|
|
|
|
|
 |
|
|
|
INGEMM - INSTITUTO DE GENETICA MEDICA Y MOLECULAR
(INSTITUTE OF MEDICAL AND MOLECULAR GENETICS)
|
|
Publications 2014
|
DOCUMENT |
I.F. |
CUARTILE |
|
Andrade, R. C.; Nevado, J.; de Lima, M. A. D. D.; Saad, T.; Moraes, L.; himelli, L.; Lapunzina, P.; Vargas, F. R. Segmental uniparental isodisomy f chromosome 6 causing transient diabetes mellitus and merosindeficient ongenital muscular dystrophy. AMERICAN JOURNAL OF EDICAL GENETICS PART A. 2014; 164A(11): 2908-2913. Artículo. |
2,159 |
Q3 |
|
Guillén-Navarro, E.; Ballesta-Martínez, M. J.; Valencia, M.; Bueno, A. M.; Martínez-Glez, V.; López-González, V.; Burnyte, B.; Utkus, A.; Lapunzina, P.; Ruiz-Pérez, V. L. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2014; 164(5): -1136-1142. Artículo. |
2,159 |
Q3 |
|
Valencia, M.; Caparros-Martín, J. A.; Sirerol-Piquer, M. S.; García-Verdugo, J. M.; Martínez-Glez, V.; Lapunzina, P.; Temtamy, S.; Aglan, M.; Lund, A. M.; Nikkels, P. G. J.; Ruiz-Pérez, V. L.; Ostergaard, E. Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2014; 164(5): 1143-1150. Artículo. |
2,159 |
Q3 |
|
Delicado, A.; Fernández, L.; de Torres, M. L.; Nevado, J.; García-Santiago, F. A.; Rodríguez, R.; Mansilla, E.; Palomares, M.; Santos-Simarro, F.; Vallespín, E.; Mori, M. A.; Lapunzina, P. Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier. BMC MEDICAL GENETICS. 2014; 15: 116. Artículo. |
2,083 |
Q3 |
García-Mendiola, T.; Martínez, T. B.; Pariente, F.; Molano, J.; Lorenzo, E. Screening of specific gene mutations associated with cystic fibrosis.
ELECTROANALYSIS. 2014; 26(6): 1362-1372. Artículo. |
2,138 |
Q2 |
|
de Munnik, S. A.; García-Miñaur, S.; Hoischen, A.; van Bon, B. W.; Boycott, K. M.; Schoots, J.; Hoefsloot, L. H.; Knoers, N. V. A. M.; Bongers, E.M. H. F.; Brunner, H. G. A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS. 2014; 22(6): 844-846. Artículo. |
4,349 |
Q1 |
|
Court, F.; Tayama, C.; Romanelli, V.; Martín-Trujillo, A.; Iglesias-Platas, I.; Okamura, K.; Sugahara, N.; Simon, C.; Moore, H.; Harness, J. V.; Keirstead, H.; Sánchez-Mut, J. V.; Kaneki, E.; Lapunzina, P.; Soejima, H.; Wake, N.; Esteller, M.; Ogata, T.; Hata, K.; Nakabayashi, K.; Monk, D. Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylationindependent mechanism of establishment. GENOME RESEARCH. 2014; 24(4): 554-569. Artículo. |
14,63 |
D1 |
|
Tenorio, J.; Mansilla, A.; Valencia, M.; Martínez-Glez, V.; Romanelli, V.; Arias, P.; Castrejón, N.; Poletta, F.; Guillén-Navarro, E.; Gordo, G.; Mansilla, E.; García-Santiago, F.; González-Casado, I.; Vallespín, E.; Palomares, M.; Mori, M. A.; Santos-Simarro, F.; García-Miñaur, S.; Fernández, L.; Mena, R.; Benito-Sanz, S.; del Pozo, A.; Silla, J. C.; Ibáñez, K.; López-Granados, E.; Martín-Trujillo, A.; Montaner, D.; Heath, K. E.; Campos-Barros, A.; Dopazo, J.; Nevado, J.; Monk, D.; Ruiz-Pérez, V. L.; Lapunzina, P. A new overgrowth syndrome is due to mutations in RNF125. HUMAN MUTATION. 2014; 35(12): 1436-1441. Artículo. |
5,144 |
Q1 |
|
Teresa-Rodrigo, M. E.; Eckhold, J.; Puisac, B.; Dalski, A.; Gil-Rodríguez, M. C.; Braunholz, D.; Baquero, C.; Hernández-Marcos, M.; de Karam, J. C.; Ciero, M.; Santos-Simarro, F.; Lapunzina, P.; Wierzba, J.; Casale, C.H.; Ramos, F. J.; Gillessen-Kaesbach, G.; Kaiser, F. J.; Pie, J. Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with cornelia de lange syndrome. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 2014; 15(6): 10350-10364. Artículo. |
2,862 |
Q2 |
Aragón, J. J.; Hermida, C.; Martínez-Costa, O. H.; Sánchez, V.; Martín,
I.; Sánchez, J. J.; Codoceo, R.; Cano, J. M.; Cano, A.; Crespo, L.; Torres, Y.; García, F. J.; Fernández-Mayoralas, A.; Solera, J.; Martínez, P. Noninvasive diagnosis of hypolactasia with 4-galactosylxylose (Gaxilose). A multicentre, open-label, phase IIB-III nonrandomized trial. JOURNAL OF CLINICAL GASTROENTEROLOGY. 2014; 48(1): 29-36. Artículo. |
3,498 |
Q2 |
|
Yuén, M.; Sandaradura, S. A.; Dowling, J. J.; Kostyukova, A. S.; Moroz, N.; Quinlan, K. G.; Lehtokari, V. L.; Ravenscroft, G.; Todd, E. J.; Ceyhan-Birsoy, O.; Gokhin, D. S.; Maluenda, J.; Lek, M.; Nolent, F.; Pappas, C. T.; Novak, S. M.; D’Amico, A.; Malfatti, E.; Thomas, B. P.; Gabriel, S. B.; Gupta, N.; Daly, M. J.; Ilkovski, B.; Houweling, P. J.; Davidson, A. E.; Swanson, L. C.; Brownstein, C. A.; Gupta, V. A.; Medne, L.; Shannon, P.; Martin, N.; Bick, D. P.; Flisberg, A.; Holmberg, E.; Van den Bergh, P.; Lapunzina, P.; Waddell, L. B.; Sioboda, D. D.; Bertini, E.; Chitayat, D.; Telfer, W. R.; Laquerriere, A.; Gregorio, C. C.; Ottenheijm, C. A. C.; Bonnemann, C. G.; Pelin, K.; Beggs, A. H.; Hayashi, Y. K.; Romero, N. B.; Laing, N. G.; Nishino, I.; Wallgren-Pettersson, C.; Melki, J.; Fowler, V. M.; MacArthur, D. G.; North, K. N.; Clarke, NF. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. JOURNAL OF CLINICAL INVESTIGATION. 2014; 124(11): 4693-4708. Artículo. |
13,262 |
D1 |
|
Rodríguez, F. A.; Unanue, N.; Hernández, M. I.; Heath, K. E.; Cassorla, F.Molecular characterization of chilean patients with a clinical diagnosis of noonan syndrome. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. 2014; 27(3-4): 305-309. Artículo. |
0,995 |
Q4 |
Aza-Carmona, M.; Barca-Tierno, V.; Hisado-Oliva, A.; Belinchón, A.;
Gorbenko-del Blanco, D.; Rodríguez, J. I.; Benito-Sanz, S.; Campos-
Barros, A.; Heath, K. E. NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development. PLOS ONE. 2014; 9(1): e83104. Artículo. |
3,234 |
Q1 |
Casado-Verrier, B.; Feito-Rodríguez, M.; Noval, S.; Martínez-Glez, V.;
Lapunzina, P.; de Lucas-Laguna, R. Cutaneous and ophthalmic signs as a clue to early diagnosis of severe neurofibromatosis type 2: report of
a novel mutation that predicts this poor prognosis. CLINICAL AND
EXPERIMENTAL DERMATOLOGY. 2014; 39(4): 557-559. Material Editorial. |
1,092 |
Q3 |
|
Eggermann, T.; Algar, E.; Lapunzina, P.; Mackay, D.; Maher, E. R.; Mannens, M.; Netchine, I.; Prawitt, D.; Riccio, A.; Temple, I. K.; Weksberg, R. Clinical utility gene card for: Beckwith-Wiedemann Syndrome. EUROPEAN JOURNAL OF HUMAN GENETICS. 2014; 22(3). Material Editorial. |
4,349 |
Q1 |
|
Mila, M.; Ramos, F.; Tejada, M. I. (Lapunzina, P.). Clinical guideline of gene FMR1-associated diseases: fragile X syndrome, primary ovarian insufficiency and tremor-ataxia syndrome. MEDICINA CLÍNICA. 2014; 142(5): 219-225. Material Editorial. |
1,417 |
Q2 |
|
Huarte, N. M.; Santos-Simarro, F.; Abascal, I. P.; García-Miñaur, S.; Omeñaca, F. Chondrodysplasia punctata associated with maternal Sjogren syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2014; 164(6): 1606-1610. Carta. |
2,159 |
Q3 |
|
Valdivielso-Ramos, M.; Solera, J.; Mauleón, C.; Hernanz, J. M.; Amiñoso, C.; Galiano, S.; de la Cueva, P. Novel mutation in the PTCH1 gene in a patient with Gorlin syndrome with prominent clinical features. CLINICAL AND EXPERIMENTAL DERMATOLOGY. 2014; 39(3): 406-407. Carta. |
1,092 |
Q3 |
|
Rivera-Pedroza, C. I.; Heath, K. E. Reply to the article entitled “Identification of an 18 bp deletion in the TWIST1 gene by CO-amplification at lower denaturation temperature-PCR (COLD-PCR) for non-invasive prenatal diagnosis of craniosynostosis: first case report” by Galbiati et al., Clin Chem Lab Med 2014;52(4):505-9. CLINICAL CHEMISTRY AND LABORATORY MEDICINE. 2014; 52(7): e127- e128. Carta. |
2,707 |
Q1 |
|
Amiñoso, C.; García-Miñaur, S.; Martínez, L.; Tenorio, J. A.; Tovar, J. A.; Lapunzina, P.; Solera, J. Recurrence of Hirschsprung disease due to maternal mosaicism of a novel RET gene mutation. CLINICAL GENETICS. 2014; 85(4): 401-402. Carta. |
3,931 |
Q2 |
|
Lapunzina, P.; López, R. O.; Rodríguez-Laguna, L.; García-Miguel, P.; Martínez, A. R.; Martínez-Glez, V. Impact of NGS in the medical sciences: genetic syndromes with an increased risk of developing cancer as an example of the use of new technologies. GENETICS AND MOLECULAR BIOLOGY. 2014; 37(1): 241-249. Revisión. |
1,202 |
Q4 |
|
Nevado, J.; Mergener, R.; Palomares-Bralo, M.; Souza, K. R.; Vallespín, E.; Mena, R.; Martínez-Glez, V.; Mori, M. A.; Santos, F.; García-Miñaur, S.; García-Santiago, F.; Mansilla, E.; Fernández, L.; de Torres, M. L.; Riegel, M.; Lapunzina, P. New microdeletion and microduplication syndromes: a comprehensive review. GENETICS AND MOLECULAR BIOLOGY. 2014; 37(1): 210-219. Revisión. |
1,202 |
Q4 |
|
Eggermann, T.; Binder, G.; Brioude, F.; Maher, E. R.; Lapunzina, P.; Cubellis, M. V.; Bergada, I.; Prawitt, D.; Begemann, M. CDKN1C mutations: two sides of the same coin. TRENDS IN MOLECULAR MEDICINE. 2014; 20(11): 614-622. Revisión |
9,453 |
D1 |
Publications 2009 - 2013
|
YEAR |
NAME |
I.F. |
CUARTILE |
|
2013 |
Keupp, K.; Beleggia, F.; Kayserili, H.; Barnes, A. M.; Steiner, M.; Semler, O.; Fischer, B.; Yigit, G.; Janda, C. Y.; Becker, J.; Breer, S.; Altunoglu, U.; Grunhagen, J.; Krawitz, P.; Hecht, J.; Schinke, T.; Makareeva, E.; Lausch, E.; Cankaya, T.; Caparros-Martín, J. A.; Lapunzina, P.; Temtamy, S.; Aglan, M.; Zabel, B.; Eysel, P.; Koerber, F.; Leikin, S.; García, K. C.; Netzer, C.; Schonau, E.; Ruiz-Pérez, V. L.; Mundlos, S.; Amling, M.; Kornak, U.; Marini, J.; Wollnik, B. Mutations in WNT1 cause different forms of bone fragility. AMERICAN JOURNAL OF HUMAN GENETICS. 2013; 92(4): 565-574. Artículo. |
10,987 |
D1 |
|
2013 |
Tatton-Brown, K.; Murray, A.; Hanks, S.; Douglas, J.; Armstrong, R.; Banka, S.; Bird, L. M.; Clericuzio, C. L.; Cormier-Daire, V.; Cushing, T.; Flinter, F.; Jacquemont, M. L.; Joss, S.; Kinning, E.; Lynch, S. A.; Magee, A.; McConnell, V.; Medeira, A.; Ozono, K.; Patton, M.; Rankin, J.; Shears, D.; Simon, M.; Splitt, M.; Strenger, V.; Stuurman, K.; Taylor, C.; Titheradge, H.; Van Maldergem, L.; Temple, I. K.; Cole, T.; Seal, S.; Rahman, N. (Lapunzina, P.). Weaver syndrome and EZH2 mutations: clarifying the clinical phenotype. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2013; 161(12): 2972-2980. Artículo. |
2,048 |
Q3 |
|
2013 |
Vallespín, E.; Bralo, M. P.; Mori, M. A.; Martín, R.; García-Miñaur, S.; Fernández, L.; de Torres, M. L.; García-Santiago, F.; Mansilla, E.; Santos, F.; M-Montano, V. E.; Crespo, M. C.; Martín, S.; Martínez-Glez, V.; Delicado, A.; Lapunzina, P.; Nevado, J. Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous
well-defined pathological aamples. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2013; 161(8): 1950-1960. Artículo. |
2,048 |
Q3 |
|
2013 |
Ballesta-Martínez, M. J.; López-González, V.; Dulcet, L. A.; Rodríguez-Santiago, B.; García-Miñaur, S.; Guillén-Navarro, E. Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2013; 161(8): 2030-2035. Artículo. |
2,048 |
Q3 |
|
2013 |
Caparros-Martín, J. A.; Valencia, M.; Pulido, V.; Martínez-Glez, V.; Rueda-Arenas, I.; Amr, K.; Farra, C.; Lapunzina, P.; Ruiz-Pérez, V. L.; Temtamy, S.; Aglan, M. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2013; 161A(6): 1354-1369. Artículo. |
2,048 |
Q3 |
|
2013 |
Kantaputra, P. N.; Sittiwangkul, R.; Sonsuwan, N.; Romanelli, V.; Tenorio, J.; Lapunzina, P. A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2013; 161A(1): 192-197. Artículo. |
2,048 |
Q3 |
|
2013 |
Torres-Martín, M.; Martínez-Glez, V.; Peña-Granero, C.; Lassaletta, L.; Isla, A.; de Campos, J. M.; Pinto, G. R.; Burbano, R. R.; Meléndez, B.; Castresana, J. S.; Rey, J. A. Expression analysis of tumor-related genes involved in critical regulatory pathways in schwannomas. CLINICAL & TRANSLATIONAL ONCOLOGY. 2013; 15(5): 409-411. Artículo. |
1,6 |
Q4 |
|
2013 |
Hess, O.; Khayat, M.; Hwa, V.; Heath, K. E.; Teitler, A.; Hritan, Y.; Allon-Shalev, S.; Tenenbaum-Rakover, Y. A novel mutation in IGFALS, c.380T > C (p.L127P), associated with short stature, delayed puberty, osteopenia and hyperinsulinaemia in two siblings: insights into the roles of insulin growth factor-1 (IGF1). CLINICAL ENDOCRINOLOGY. 2013; 79(6): 838-844. Artículo. |
3,353 |
Q2 |
|
2013 |
Martínez-Montero, P.; Muñoz-Calero, M.; Vallespin, E.; Campistol, J.; Martorell, L.; Ruiz-Falco, M. J.; Santana, A.; Pons, R.; Dinopoulos, A.; Sierra, C.; Nevado, J.; Molano, J. PLP1 gene analysis in 88 patients with leukodystrophy. CLINICAL GENETICS. 2013; 84(6): 566-571. Artículo. |
3,652 |
Q2 |
|
2013 |
Pérez, B.; Gutiérrez-Solana, L. G.; Verdú, A.; Merinero, B.; Yuste-
Checa, P.; Ruiz-Sala, P.; Calvo, R.; Jalan, A.; Marín, L. L.; Campos, O.; Ruiz, M. A.; San Miguel, M.; Vázquez, M.; Castro, M.; Ferrer, I.; Navarrete, R.; Desviat, L. R.; Lapunzina, P.; Ugarte, M.; Pérez-Cerdá, C. Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option. EPILEPSIA. 2013; 54(2): 239-248. Artículo. |
4,584 |
Q1 |
|
2013 |
Reinstein, E.; Frentz, S.; Morgan, T.; García-Miñaur, S.; Leventer, R. J.; McGillivray, G.; Pariani, M.; van der Steen, A.; Pope, M.; Holder-Espinasse, M.; Scott, R.; Thompson, E. M.; Robertson, T.; Coppin, B.; Siegel, R.; Zurita, M. B.; Rodríguez, J. I.; Morales, C.; Rodrigues, Y.; Arcas, J.; Saggar, A.; Horton, M.; Zackai, E.; Graham, J. M.; Rimoin, D. L.; Robertson, S. P. Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. EUROPEAN JOURNAL OF HUMAN GENETICS. 2013; 21(5): 494-502. Artículo. |
4,225 |
Q1 |
|
2013 |
Akcay, A.; Ulucan, K.; Taskin, N.; Boyraz, M.; Akcay, T.; Zurita, O.; Gómez, A.; Heath, K. E.; Campos-Barros, A. Suprasellar mass mimicking a hypothalamic glioma in a patient with a complete PROP1 deletion. EUROPEAN JOURNAL OF MEDICAL GENETICS. 2013; 56(8): 445-451. Artículo. |
1,486 |
Q4 |
|
2013 |
Rodríguez-Revenga, L.; Vallespín, E.; Madrigal, I.; Palomares, M.; Mur, A.; García-Miñaur, S.; Santos, F.; Mori, M. A.; Lapunzina, P.; Mila, M.; Nevado, J. A parallel study of different array-CGH platforms in a set of Spanish patients with developmental delay and intellectual disability. GENE. 2013; 521(1): 82-86. Artículo. |
2,082 |
Q3 |
|
2013 |
Amiñoso, C.; Vallespín, E.; Fernández, L.; Arrabal, L. F.; Desviat, L. R.; Pérez, B.; Santos, F.; Solera, J. Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element. GENE. 2013; 519(1): 169-172. Artículo. |
2,082 |
Q3 |
|
2013 |
Caparros-Martín, J. A.; Valencia, M.; Reytor, E.; Pacheco, M.; Fernández, M.; Pérez-Aytes, A.; Gean, E.; Lapunzina, P.; Peters, H.; Goodship, J. A.; Ruiz-Pérez, V. L. The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia. HUMAN MOLECULAR GENETICS. 2013; 22(1): 124-139. Artículo. |
6,677 |
D1 |
|
2013 |
Court, F.; Martín-Trujillo, A.; Romanelli, V.; Garin, I.; Iglesias-Platas,
I.; Salafsky, I.; Guitart, M.; de Nanclares, G. P.; Lapunzina, P.; Monk, D. Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes. HUMAN MUTATION. 2013; 34(4): 595-602. Artículo. |
5,05 |
Q1 |
|
2013 |
Peces, R.; Peces, C.; de Sousa, E.; Vega, C.; Selgas, R.; Nevado, J. A novel and de novo deletion in the OCRL1 gene associated with a severe form of Lowe syndrome. INTERNATIONAL UROLOGY AND NEPHROLOGY. 2013; 45(6): 1767-1771. Artículo. |
1,293 |
Q3 |
|
2013 |
Hermida, C.; Guerra, P.; Martínez-Costa, O. H.; Sánchez, V.; Sánchez, J. J.; Solera, J.; Fernández-Mayoral, A.; Codoceo, R.; Frías, J.; Aragón, J. J. Phase I and phase IB clinical trials for the noninvasive evaluation of intestinal lactase with 4-galactosylxylose (Gaxilose). JOURNAL OF CLINICAL GASTROENTEROLOGY. 2013; 47(6): 501-508. Artículo. |
3,186 |
Q2 |
|
2013 |
Nakatomi, M.; Hovorakova, M.; Gritli-Linde, A.; Blair, H. J.; MacArthur, K.; Peterka, M.; Lesot, H.; Peterkova, R.; Ruiz-Pérez, V. L.; Goodship, J. A.; Peters, H. Evc regulates a symmetrical response to Shh signaling in molar development. JOURNAL OF DENTAL RESEARCH. 2013; 92(3): 222-228. Artículo. |
4,144 |
D1 |
|
2013 |
Gordon, C. T.; Vuillot, A.; Marlin, S.; Gerkes, E.; Henderson, A.; AlKindy, A.; Holder-Espinasse, M.; Park, S. S.; Omarjee, A.; Sanchís-
Borja, M.; Ben Bdira, E.; Oufadem, M.; Sikkema-Raddatz, B.; Stewart, A.; Palmer, R.; McGowan, R.; Petit, F.; Delobel, B.; Speicher, M. R.; Aurora, P.; Kilner, D.; Pellerin, P.; Simon, M.; Bonnefont, J. P.; Tobias, E. S.; García-Miñaur, S.; Bitner-Glindzicz, M.; Lindholm, P.; Meijer, B. A.; Abadie, V.; Denoyelle, F.; Vázquez, M. P.; Rotky-Fast, C.; Couloigner, V.; Pierrot, S.; Manach, Y.; Bretón, S.; Hendriks, Y. M. C.; Munnich, A.; Jakobsen, L.; Kroisel, P.; Lin, A.; Kaban, L. B.; Basel-Vanagaite, L.; Wilson, L.; Cunningham, M. L.; Lyonnet, S.; Amiel, J. Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. JOURNAL OF MEDICAL GENETICS. 2013; 50(3): 174-186. Artículo. |
5,636 |
Q1 |
|
2013 |
Rodríguez, F. A.; Unanue, N.; Hernández, M. I.; Basaure, J.; Heath, K. E.; Cassorla, F. Clinical and molecular characterization of chilean patients with Leri-Weill dyschondrosteosis. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. 2013; 26(7-8): 729-734. Artículo. |
0,711 |
Q4 |
|
2013 |
Torres-Martín, M.; Martínez-Glez, V.; Peña-Granero, C.; Isla, A.; Lassaletta, L.; de Campos, J. M.; Pinto, G. R.; Burbano, R.R.; Meléndez, B.; Castresana, J. S.; Rey, J. A. Gene expression analysis of aberrant signaling pathways in meningiomas. ONCOLOGY LETTERS. 2013; 6(1): 275-279. Artículo. |
0,987 |
Q4 |
|
2013 |
Verdin, H.; D’haene, B.; Beysen, D.; Novikova, Y.; Menten, B.; Sante, T.; Lapunzina, P.; Nevado, J.; Carvalho, C. M. B.; Lupski, J. R.; de Baere, E. Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. PLOS GENETICS. 2013; 9(3): e1003358. Artículo. |
8,167 |
D1 |
|
2013 |
Juan-Mateu, J.; González-Quereda, L.; Rodríguez, M. J.; Verdura,
E.; Lázaro, K.; Jou, C.; Nascimento, A.; Jiménez-Mallebrera, C.; Colomer, J.; Monges, S.; Lubieniecki, F.; Foncuberta, M. E.; Pascual-Pascual, S. I.; Molano, J.; Baiget, M.; Gallano, P. Interplay between DMD point mutations and splicing signals in dystr phinopathy phenotypes. PLOS ONE. 2013; 8(3): e59916. Artículo. |
3,534 |
Q1 |
|
2013 |
Carcavilla, A.; Santome, J. L.; Pinto, I.; Sánchez-Pozo, J.; Guillén-Navarro, E.; Martín-Frías, M.; Lapunzina, P.; Ezquieta, B. LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy. REVISTA ESPAÑOLA DE CARDIOLOGÍA. 2013; 66(5): 350-356. Artículo. |
3,342 |
Q2 |
|
2013 |
Sarrión, P.; Sangorrin, A.; Urreizti, R.; Delgado, A.; Artuch, R.; Martorell, L.; Armstrong, J.; Antón, J.; Torner, F.; Vilaseca, M. A.; Nevado, J.; Lapunzina, P.; Asteggiano, C. G.; Balcells, S.; Grinberg, D. Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. SCIENTIFIC REPORTS. 2013; 3: 1346. Artículo. |
5,078 |
D1 |
|
2013 |
Fasciani, I.; Temperan, A.; Pérez-Atencio, L. F.; Escudero, A.; Martínez-Montero, P.; Molano, J.; Gómez-Hernández, J. M.; Paino, C. L.; González-Nieto, D.; Barrio, L. C. Regulation of connexin hemichannel activity by membrane potential and the extracellular calcium in health and disease. NEUROPHARMACOLOGY. 2013; 75: 479-490. Revisión. |
4,819 |
D1 |
|
2012 |
Fernández, L.; Nevado, J.; de Torres, M.L.; Mansilla, E.; Vallespín, E.; García-Miñaur, S.; Palomo, R.; Deirós, L.; Cabrera, M.; Galo, E. D.; Lapunzina, P.; Delicado, A. Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2012; 158A(11): 2963-2968. Letter. |
2,304 |
Q3 |
|
2012 |
Ros-Pérez, P.; Regidor, F.J.; Colino, E.; Martínez-Payo, C.; Barroso, E.; Heath, K. Achondroplasia with 47, xxy karyotype: a case report of the neonatal diagnosis of an extremely unusual association. BMC PEDIATRICS. 2012; 12: 88. Article. |
1,982 |
Q2 |
|
2012 |
Benito-Sanz, S.; Royo, J. L.; Barroso, E. ; Paumard-Hernández, B.; Barreda-Bonis, A. C. ; Liu, P. F.; Gracia, R.; Lupski, J. R.; Campos-Barros, A.; Gómez-Skarmeta, J. L.; Heath, K. E. Identifi cation of the fi rst recurrent PAR1 deletion in Leri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancer. JOURNAL OF MEDICAL GENETICS. 2012; 49(7): 442-450. Article. |
5,703 |
Q1 |
|
2012 |
Albuisson, J.; Schmitt, S.; Barón, S.; Bezieau, S.; Benito-Sanz, S.; Heath, K. E. Clinical utility gene card for: Leri-Weill Dyschondrosteosis (LWD) and Langer Mesomelic Dysplasia (LMD). EUROPEAN JOURNAL OF HUMAN GENETICS. 2012; 20(8). Editorial Material. |
4,319 |
Q1 |
|
2012 |
Heath, K.E. Radiological signs of Leri-Weill dyschondrosteosis present in the A170P carrier. JOURNAL OF CLINICAL PATHOLOGY. 2012; 65(10): 962-962. Letter. |
2,439 |
Q2 |
|
2012 |
Benito-Sanz, S.; Aza-Carmona, M.; Rodríguez-Estévez, A.; Rica-Etxebarría, I.; Gracia, R.; Campos-Barros, A.; Heath, K.E. Identifi cation of the fi rst PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature. EUROPEAN JOURNAL OF HUMAN GENETICS. 2012; 20(1): 125-127. Article. |
4,319 |
Q1 |
|
2012 |
Peraita-Ezcurra, M.; Martínez-García, M.; Ruiz-Pérez, V. L.; Sánchez-Gutiérrez, M.E.; Fenollar-Cortes, M.; Vélez-Monsalve, C.; Ramos-Corrales, C.; Pastor, I.; Santonja, C.; Trujillo-Tiebas, M. J. Ellis-van creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological and radiologic fi ndings. GENE. 2012; 499(1): 223-225. Article. |
2,196 |
Q3 |
|
2012 |
García-Herrero, C. M.; Rubio-Cabezas, O.; Azriel, S.; Gutiérrez
Nogues, A.; Aragonés, A.; Vincent, O.; Campos Barros, A.; Argente, J.; Navas, M. A. Functional Characterization of MODY2 mutations highlights the importance of the fi netuning of glucokinase and its role in glucose sensing. PLOS ONE. 2012; 7(1): e30518. Article. |
3,73 |
Q1 |
|
2012 |
Ezquieta, B.; Santomé, J. L.; Carcavilla, A.; Guillén-Navarro, E.; Pérez-Aytes, A.; del Pozo, J. S.; García-Miñaur, S.; Castillo, E.; Alonso, M.; Vendrell, T.; Santana, A.; Maroto, E.; Galbis, L. Alterations in RAS-MAPK genes in 200 spanish patients with noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. REVISTA ESPAÑOLA DE CARDIOLOGÍA. 2012; 65(5): 447-455. Article. |
3,204 |
Q2 |
|
2012 |
Cardoso, L. C. A.; Castaño, J. A. T.; Pereira, H. S.; Lima, M. A. D.
D.; dos Santos, A. C. E.; de Faria, P.S.; Ferman, S.; Seuánez, H.
N.; Nevado, J. B.; de Almeida, J. C. C.; Lapunzina, P.; Vargas, F.
R. Constitutional and somatic methylation status of DMRH19 and KvDMR in Wilms tumor patients. GENETICS AND MOLECULAR
BIOLOGY. 2012; 35(4): 714-724. Article. |
0,744 |
Q4 |
|
2012 |
Pérez-Nanclares, G.; Romanelli, V.; Mayo, S.; Garin, I.; Zazo, C.; Fernández-Rebollo, E.; Martínez, F.; Lapunzina, P.; de Nanclares,
G. P. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2012; 97(6): E1060-E1067. Article. |
6,43 |
Q1 |
|
2012 |
Scott, R. H.; Murray, A.; Baskcomb, L.; Turnbull, C.; Loveday, C.; Al-Saadi, R.; Williams, R.; Breatnach, F.; Gerrard, M.; Hale, J.; Kohler, J.; Lapunzina, P.; Levitt, G. A.; Picton, S.; Pizer, B.; Ronghe, M. D.; Traunecker, H.; Williams, D.; Kelsey, A.; Vujanic, G. M.; Sebire, N. J.; Grundy, P.; Stiller, C. A.; Pritchard-Jones, K.; Douglas, J.; Rahman, N. Stratifi cation of wilms tumor by genetic and epigenetic analysis. ONCOTARGET. 2012; 3(3): 327-335. Article. |
6,636 |
Q1 |
|
2012 |
Casado, I. G.; de la Puente Arévalo, A.; Moreira, O. L.; Lapunzina,
P.; Bouthelier, R. G. Hypoglycaemia due to persistent hyperinsulinism in a patient with Sotos syndrome. ANALES DE PEDIATRÍA. 2012; 76(4): 232-234. Letter. |
0,867 |
Q4 |
|
2012 |
Eggermann, T.; Begemann, M.; Gogiel, M.; Palomares, M.; Vallespín, E.; Fernández, L.; Cazorla, R.; Spengler, S.; García-Miñaur, S. Heterogeneous growth patterns in carriers of chromosome 7p12.2 imbalances affecting GRB10. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2012; 158A (11): 2815-2819. Article. |
2,304 |
Q3 |
|
2012 |
Armengol, L.; Nevado, J.; Serra-Juhe, C.; Plaja, A.; Mediano, C.; García-Santiago, F. A.; García-Aragonés, M.; Villa, O.; Mansilla, E.; Preciado, C.; Fernández, L.; Mori, M. A.; García-Pérez, L.; Lapunzina, P. D.; Pérez-Jurado, L. A. Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis. HUMAN GENETICS. 2012; 131(3): 513-523. Article. |
4,633 |
Q1 |
|
2012 |
Kim, J. J.; Park, Y. M.; Baik, K. H.; Choi, H. Y.; Yang, G. S.; Koh, I.;
Hwang, J. A.; Lee, J.; Lee, Y. S.; Rhee, H.; Kwon, T. S.; Han, B.
G.; Heath, K. E.; Inoue, H.; Yoo, H. W.; Park, K.; Lee, J. K. Exome
sequencing and subsequent association studies identify five amino acid-altering variants infl uencing human height. HUMAN GENETICS. 2012; 131(3): 471-478. Article. |
4,633 |
Q1 |
|
2012 |
Pérez, B.; Nevado, J.; Lapunzina, P.; Gallego, L.; Pérez-Cerdá,
C.; Merinero, B.; Ugarte, M.; Desviat, L. R. Segmental uniparental
disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases. MOLECULAR GENETICS AND METABOLISM. 2012; 105(2): 270-271. Letter. |
2,834 |
Q2 |
|
2012 |
Martínez-Glez, V.; Valencia, M.; Caparrós-Martín, J. A.; Aglan, M.; Temtamy, S.; Tenorio, J.; Pulido, V.; Lindert, U.; Rohrbach, M.; Eyre, D.; Giunta, C.; Lapunzina, P.; Ruiz-Pérez, V.L. Identification of a mutation causing defi cient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfect. HUMAN MUTATION. 2012; 33(2): 343-350. Article. |
5,213 |
Q1 |
|
2012 |
Puig-Hervas, M. T.; Temtamy, S.; Aglan, M.; Valencia, M.; Martínez-Glez, V.; Ballesta-Martínez, M. J.; López-González, V.; Ashour, A. M.; Amr, K.; Pulido, V.; Guillén-Navarro, E.; Lapunzina, P.; Caparrós-Martín, J. A.; Ruiz-Pérez, V. L. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-osteogenesis imperfecta phenotypic spectrum. HUMAN MUTATION. 2012; 33(10): 1444-1449. Article. |
5,213 |
Q1 |
|
2012 |
Carrillo, J.; Martínez, P.; Solera, J.; Moratilla, C.; González, A.; Manguán-García, C.; Aymerich, M.; Canal, L.; del Campo, M.; Dapena, J. L.; Escoda, L.; García-Sagredo, J. M.; Martín-Sala, S.; Rives, S.; Sevilla, J.; Sastre, L.; Perona, R. High resolution melting analysis for the dentifi cation of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenital. BLOOD CELLS MOLECULES AND DISEASES. 2012; 49 (03-apr): 140-146. Article. |
2,259 |
Q3 |
|
2012 |
Pacheco, M.; Valencia, M.; Caparrós-Martín, J. A.; Mulero, F.; Goodship, J. A.; Ruiz-Pérez, V. L. Evc works in chondrocytes and osteoblasts to regulate multiple aspects of growth plate development in the appendicular skeleton and cranial base. BONE. 2012; 50(1): 28-41. Article. |
3,823 |
Q2 |
|
2012 |
Banka, S.; Veeramachaneni, R.; Reardon, W.; Howard, E.; Bunstone, S.; Ragge, N.; Parker, M.J .; Crow, Y. J.; Kerr, B.; Kingston, H.; Metcalfe, K.; Chandler, K.; Magee, A.; Stewart, F.; McConnell, V. P. M.; Donnelly, D. E.; Berland, S.; Houge, G.; Morton, J. E.; Oley, C.; Revencu, N.; Park, S. M.; Davies, S. J.; Fry, A. E.; Lynch, S. A.; Gill, H.; Schweiger, S.; Lam, W. W. K.; Tolmie, J.; Mohammed, S. N.; Hobson, E.; Smith, A.; Blyth, M.; Bennett, C.; Vasudevan, P. C.; García-Miñaur, S.; Henderson, A.; Goodship, J.; Wright, M. J.; Fisher, R.; Gibbons, R.; Price, S. M.; de Silva, D. C.; Temple, I. K.; Collins, A. L.; Lachlan, K.; Elmslie, F.; McEntagart, M.; Castle, B.; Clayton-Smith, J.; Black, G. C.; Donnai, D. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. EUROPEAN JOURNAL OF HUMAN GENETICS. 2012; 20(4): 381-388. Article. |
4,319 |
Q1 |
|
2012 |
Prior, N.; Remor, E.; Gomez-Traseira, C.; López-Serrano, C.; Cabañas, R.; Contreras, J.; Campos, A.; Cardona, V.; Cimbollek, S.; González-Quevedo, T.; Guilarte, M.; de Rojas, D. H. F.; Marcos, C.; Rubio, M.; Tejedor-Alonso, M. A.; Caballero, T. Development of a disease-specifi c quality of life questionnaire for adult patients with hereditary angioedema due to C1 inhibitor deficiency (HAE-QoL): Spanish multi-centre research project. HEALTH AND QUALITY OF LIFE OUTCOMES. 2012; 10: 82. Article. |
2,272 |
Q2 |
|
2012 |
Leban, N.; Abarrategui-Garrido, C.; Fariza-Requejo, E.; Amiñoso-Carbonero, C.; Pinto, S.; Chibani, J. B.; Khelil, A.H.; Sánchez-Corral, P. Factor H and CFHR1 polymorphisms associated with atypical Haemolytic Uraemic Syndrome (AHUS) are differently expressed in tunisian and in caucasian populations. INTERNATIONAL JOURNAL OF IMMUNOGENETICS. 2012; 39(2): 110-113. Article. |
1,355 |
Q4 |
|
2012 |
Giménez, C.; Pérez-Siles, G.; Martínez-Villarreal, J.; Arribas-González, E.; Jimenez, E.; Núñez, E.; de Juan-Sanz, J.; Fernández-Sánchez, E.; García-Tardón, N.; Ibáñez, I.; Romanelli, V.; Nevado, J.; James, V.M.; Topf, M.; Chung, S. K.; Thomas, R. H.; Desviat, L. R.; Aragón, C.; Zafra, F.; Rees, M. I.; Lapunzina, P.; Harvey, R. J.; López-Corcuera, B. A novel dominant hyperekplexia mutation Y705C alters traffi cking and biochemical properties of the presynaptic glycine transporter GlyT2. JOURNAL OF BIOLOGICAL CHEMISTRY. 2012; 287(34): 28986-29002. Article. |
4,651 |
Q1 |
|
2012 |
Kamath, B. M.; Bauer, R. C.; Loomes, K. M.; Chao, G.; Gerfen, J.; Hutchinson, A.; Hardikar, W.; Hirschfi eld, G.; Jara, P.; Krantz, I. D.; Lapunzina, P.; Leonard, L.; Ling, S.; Ng, V. L.; Hoang, P. L.; Piccoli, D. A.; Spinner, N. B. NOTCH2 mutations in Alagille syndrome. JOURNAL OF MEDICAL GENETICS. 2012; 49(2): 138-144. Article. |
5,703 |
Q1 |
|
2012 |
Harakalova, M.; van Harssel, J. J. T.; Terhal, P. A.; van Lieshout, S.; Duran, K.; Renkens, I.; Amor, D. J.; Wilson, L. C.; Kirk, E. P.; Turner, C. L. S.; Shears, D.; García-Miñaur, S.; Lees, M.M.; Ross, A.; Venselaar, H.; Vriend, G.; Takanari, H.; Rook, M. B.; van der Heyden, M. A. G.; Asselbergs, F. W.; Breur, H. M.; Swinkels, M. E.; Scurr, I. J.; Smithson, S. F.; Knoers, N. V.; van der Smagt, J. J.; Nijman, I. J.; Kloosterman, W. P.; van Haelst, M. M.; van Haaften, G.; Cuppen, E. Dominant missense mutations in ABCC9 cause Cantu syndrome. NATURE GENETICS. 2012; 44(7): 793-796. Article. |
35,209 |
D1 |
|
2012 |
Mazón, M. J.; Barros, F.; de la Peña, P.; Quesada, J. F.; Escudero,
A.; Cobo, A. M.; Pascual-Pascual, S. I.; Gutiérrez-Rivas, E.; Guillén, E.; Arpa, J.; Eraso, P.; Portillo, F.; Molano, J. Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. NEUROMUSCULAR DISORDERS. 2012; 22(3): 231-243. Article. |
3,464 |
Q1 |
|
2012 |
Campuzano, V.; Segura-Puimedón, M.; Terrado, V.; Sánchez-Rodríguez, C.; Coustets, M.; Menacho-Márquez, M.; Nevado, J.; Bustelo, X. R.; Francke, U.; Pérez-Jurado, L. A. Reduction of NADPH-Oxidase. Activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome. PLOS GENETICS. 2012; 8(2): e1002458. Article. |
8,517 |
D1 |
|
2012 |
Borobia, A. M.; Lubomirov, R.; Ramírez, E.; Lorenzo, A.; Campos,
A.; Muñoz-Romo, R.; Fernández-Capitán, C.; Frías, J.; Carcas, A. J. An acenocoumarol dosing algorithm using clinical and pharmacogenetic data in spanish patients with thromboembolic disease. PLOS ONE. 2012; 7(7): e41360. Article. |
3,73 |
Q1 |
|
2012 |
Barba-Romero, M. A.; Barrot, E.; Bautista-Lorite, J.; Gutiérrez-
Rivas, E.; Illa, I.; Jiménez, L. M.; Ley-Martos, M.; de Munaín, A. L.; Pardo, J.; Pascual-Pascual, S. I.; Pérez-López, J.; Solera, J.; Vílchez-Padilla, J. J. Clinical guidelines for late-onset pompe disease. REVISTA DE NEUROLOGÍA. 2012; 54(8): 497-507. Review. |
1,179 |
Q4 |
|
2011 |
Palomares, M.; Delicado, A.; Mansilla, E.; de Torres, M. L.; Vallespín, E.; Fernández, L.; Martínez-Glez, V.; García-Miñaur, S.; Nevado, J.; Simarro, F. S.; Ruiz-Pérez, V. L.; Lynch, S. A.; Sharkey, F. H.; Thuresson, A. C.; Anneren, G.; Belligni, E. F.; Martínez-Fernández, M. L.; Bermejo, E.; Nowakowska, B.; Kutkowska-Kazmierczak, A.; Bocian, E.; Obersztyn, E.; Martínez-Frias, M. L.; Hennekam, R. C. M.; Lapunzina, P. Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype. AMERICAN JOURNAL OF HUMAN GENETICS. 2011; 89(2): 295-301. Article. |
10,603 |
D1 |
|
2011 |
García-Escudero, V.; Gargini, R.; Gallego-Hernández, M. T.; García-Gómez, A.; Martín-Bermejo, M. J.; Simón, D.; Delicado, A.; Moreno-Flores, M. T.; Ávila, J.; Lim, F. A Neuroregenerative Human Ensheathing Glia Cell Line With Conditional Rapid Growth. CELL TRANSPLANTATION. 2011; 20(2): 153-166. Article. |
N/A |
N/A |
|
2011 |
Rodríguez, L.; Nevado, J.; Vallespín, E.; Palomares, M.; Golmayo, L.; Bonaglia, M. C.; Delicado, A.; Abarca, E. Molecular Characterization of an Atypical Inv Dup Del 8q. Proposal of a Mechanism of Formation. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2011; 155A(4): 915-919. Letter. |
2,391 |
Q3 |
|
2011 |
Benito-Sanz, S.; Aragonés, A.; Gracia, R.; Campos-Barros, A.; Heath, K. E. A Non-Pathogenic Pseudoautosomal Region 1 opy Number Variant Downstream of SHOX. AMERICAN OURNAL OF MEDICAL GENETICS PART A. 2011; 155A(4): 35-937. Letter. |
2,391 |
Q3 |
|
2011 |
Blair, H. J.; Tompson, S.; Liu, Y. N.; Campbell, J.; MacArthur, K.; Ponting, C. P.; Ruiz-Pérez, V. L.; Goodship, J. A. Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus. BMC BIOLOGY. 2011; 9:14. Article. |
5,75 |
D1 |
|
2011 |
Morey, M.; Castro-Feijoo, L.; Barreiro, J.; Cabañas, P.; Pombo,
M.; Gil, M.; Bernabeu, I.; Díaz-Grande, J. M.; Rey-Cordo, L.; Ariceta,
G.; Rica, I.; Nieto, J.; Vilalta, R.; Martorell, L.; Vila-Cots, J.; Aleixandre, F.; Fontalba, A.; Soriano-Guillen, L.; García-Sagredo, J. M.; García-Miñaur, S.; Rodríguez, B.; Juaristi, S.; García-Pardos, C.; Martínez-Peinado, A.; Millan, J. M.; Medeira, A.; Moldovan, O.; Fernández, A.; Loidi, L. Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)(2)D serum levels are associated with PHEX mutation type. BMC MEDICAL GENETICS. 2011; 12: 116. Article. |
2,328 |
Q3 |
|
2011 |
Barca-Tierno, V.; Aza-Carmona, M.; Barroso, E.; Heine-Suñer, D.; Azmanov, D.; Rosell, J.; Ezquieta, B.; Montane, L. S.; Vendrell, T.; Cruz, J.; Santos, F.; Rodríguez, J. I.; Pozo, J.; Argente, J.; Kalaydjieva,
L.; Gracia, R.; Campos-Barros, A.; Benito-Sanz, S.; Heath, K. E. Identification of a Gypsy SHOX mutation (p.A170P) in Leri-Weill dyschondrosteosis and Langer mesomelic dysplasia. EUROPEAN JOURNAL OF HUMAN GENETICS. 2011; 19(12): 1218-1225. Article. |
4,4 |
Q1 |
|
2011 |
Aza-Carmona, M.; Shears, D. J.; Yuste-Checa, P.; Barca-Tierno, V.;
Hisado-Oliva, A.; Belinchón, A.; Benito-Sanz, S.; Rodríguez, J. I.;
Argente, J.; Campos-Barros, A.; Scambler, P. J.; Heath, K. E. SHOX
interacts with the chondrogenic transcription factors SOX5 and
SOX6 to activate the aggrecan enhancer. HUMAN MOLECULAR
GENETICS. 2011; 20(8): 1547-1559. Article. |
7,636 |
D1 |
|
2011 |
Benito-Sanz, S.; Barroso, E.; Heine-Suñer, D.; Hisado-Oliva, A.; Romanelli, V.; Rosell, J.; Aragonés, A.; Caimari, M.; Argente, J.; Ross, J. L.; Zinn, A. R.; Gracia, R.; Lapunzina, P.; Campos-Barros, A.; Heath, K. E. Clinical and Molecular Evaluation of SHOX/PAR1 Duplications in Leri-Weill Dyschondrosteosis (LWD) and Idiopathic Short Stature (ISS). JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2011; 96(2): E404-E412. |
5,967 |
Q1 |
|
2011 |
Aza-Carmona, M.; Barreda-Bonis, A. C.; Guerrero-Fernández, J.;
Gónzalez-Casado, I.; Gracia, R.; Heath, K. E. Familial glucocorticoid
deficiency due to compound heterozygosity of two novel MC2R mutations. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM. 2011; 24(05 jun): 395-397. Article. |
0,875 |
Q4 |
|
2011 |
Fickie, M. R.; Lapunzina, P.; Gentile, J. K.; Tolkoff-Rubin, N.; Kroshinsky, D.; Galán, E.; Gean, E.; Martorell, L.; Romanelli, V.; Toral, J. F.; Lin, A. E. Adults With Sotos Syndrome: Review of 21 Adults With Molecularly Confirmed NSD1 Alterations, Including a Detailed Case Report of the Oldest Person. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2011; 155A(9): 2105-2111. Review. |
2,391 |
Q3 |
|
2011 |
Lapunzina, P.; Monk, D. The consequences of uniparental disomy and
copy number neutral loss-of-heterozygosity during human development
and cancer. BIOLOGY OF THE CELL. 2011; 103(7): 303-317.
Review. |
3,6 |
Q2 |
|
2011 |
Romanelli, V.; Meneses, H. N. M.; Fernández, L.; Martínez-Glez, V.;
Gracia-Bouthelier, R.; Fraga, M. F.; Guillen, E.; Nevado, J.; Gean, E.;
Martorell, L.; Marfil, V. E.; García-Miñaur, S.; Lapunzina, P. Beckwith-
Wiedemann syndrome and uniparental disomy 11p: fine mapping
of the recombination breakpoints and evaluation of several techniques.
EUROPEAN JOURNAL OF HUMAN GENETICS. 2011; 19(4): 416-421. Article. |
4,4 |
Q1 |
|
2011 |
Nakabayashi, K.; Trujillo, A. M.; Tayama, C.; Camprubi, C.; Yoshida,
W.; Lapunzina, P.; Sánchez, A.; Soejima, H.; Aburatani, H.; Nagae, G.;
Ogata, T.; Hata, K.; Monk, D. Methylation screening of reciprocal genome-wide UPDs identifies novel human-specific imprinted genes. HUMAN MOLECULAR GENETICS. 2011; 20(16): 3188-3197.
Article. |
7,636 |
D1 |
|
2011 |
Romanelli, V.; Nevado, J.; Fraga, M.; Trujillo, A. M.; Mori, M. A.; Fernández, L.; de Nanclares, G. P.; Martínez-Glez, V.; Pita, G.; Meneses, H.; Gracia, R.; García-Miñaur, S.; de Miguel, P. G.; Lecumberri, B.; Rodríguez, J. I.; Neira, A. G.; Monk, D.; Lapunzina, P. Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism. JOURNAL OF MEDICAL GENETICS. 2011; 48(3): 212-216. Article. |
6,365 |
Q1 |
|
2011 |
Tatton-Brown, K.; Hanks, S.; Ruark, E.; Zachariou, A.; Duarte, S. D.;
Ramsay, E.; Snape, K.; Murray, A.; Perdeaux, E. R.; Seal, S.; Loveday, C.; Banka, S.; Clericuzio, C.; Flinter, F.; Magee, A.; McConnell, V.; Patton, M.; Raith, W.; Rankin, J.; Splitt, M.; Strenger, V.; Taylor, C.; Wheeler, P.; Temple, I. K.; Cole, T.; Douglas, J.; Rahman, N. (Lapunzina, P.) Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. ONCOTARGET. 2011; 2(12): 1127-1133. Article. |
4,784 |
Q1 |
|
2011 |
Curieses, P. B.; López, F. H.; Molpeceres, R. G.; Muñoz, O. Z.; Barros,
A. C. Fasting hyperglycaemia and polymorphism in glucokinase promoter
(rs1799884). ANALES DE PEDIATRÍA. 2011; 75(4): 273-276.
Article. |
0,77 |
Q4 |
|
2011 |
Grabowska, A.; Abelairas, J.; Peralta, J.; Asencio, M.; García-Cabezas,
M. A.; Escabias-Del Pozo, C.; Nevado, J.; Vallespín, E.; Solera, J.; Pilar, P. M.; Sastre-Urgelles, A. Uveal melanoma in a 19-month-old child. JOURNAL OF AAPOS. 2011; 15(6): 606-608. Article. |
1,028 |
Q3 |
|
2011 |
Sánchez-Rodríguez, C.; Peiró, C.; Vallejo, S.; Matesanz, N.; El-Assar,
M.; Azcutia, V.; Romacho, T.; Sánchez-Ferrer, C. F.; Rodríguez-Mañas,
L.; Nevado, J. Pathan Mesothelial Cells. AMERICAN JOURNAL OF
NEPHROLOGY. 2011; 34(2): 104-114. Article. |
2,539 |
Q2 |
|
2011 |
Barroso, E.; Pérez-Carrizosa, V.; García-Recuero, I.; Glucksman, M. J.;
Wilkie, A. O.; García-Miñaur, S.; Heath, K. E. Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2011; 155A(12): 3050-3053. Article. |
2,391 |
Q3 |
|
2011 |
Sanz, M.; Moreno, J. C. Towards the timely diagnosis of hypothyroidism
caused by DEHAL1 gene defects. ANNALES D ENDOCRINOLOGIE. 2011; 72(2): 87-87. Article. |
0,741 |
Q4 |
|
2011 |
Ratbi, I.; Elalaoui, S. C.; Escudero, A.; Kriouile, Y.; Molano, J.; Sefiani, A. Moroccan consanguineous family with Becker myotonia and review. ANNALS OF INDIAN ACADEMY OF NEUROLOGY. 2011; 14(4):
307-309. Article. |
0,928 |
Q4 |
|
2011 |
García-Pavia, P.; Vázquez, M. E.; Segovia, J.; Salas, C.; Avellana, P.;
Gómez-Bueno, M.; Vilches, C.; Gallardo, M. E.; Garesse, R.; Molano,
J.; Bornstein, B.; Alonso-Pulpón, L. Genetic basis of end-stage hypertrophic cardiomyopathy. EUROPEAN JOURNAL OF HEART FAILURE. 2011; 13(11): 1193-1201. Article. |
4,896 |
Q1 |
|
2011 |
Kamath, B. M.; Bauer, R. C.; Loomes, K. M.; Chao, G.; Gerfen, J.; Hutchinson, A.; Hardikar, W.; Hirschfield, G.; Jara, P.; Krantz, I. D.; Lapunzina, P.; Leonard, L.; Ling, S.; Ng, V. L.; Hoang, P. L.; Piccoli, D. A.; Spinner, N. B. NOTCH2 mutations in Alagille syndrome. JOURNAL OF MEDICAL GENETICS. 2011; 49(2): 138-144. Article. |
6,365 |
Q1 |
|
2011 |
Bastida, P.; García-Miñaur, S.; Ezquieta, B.; Dapena, J. L.; de Toledo, J. S. Myeloproliferative Disorder in Noonan Syndrome. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY. 2011; 33(1): E43-E45.
Article. |
1,159 |
Q3 |
|
2011 |
Planells, J. G.; Molano, J.; Borrego, S. Recommendations of good practices for the genetic diagnosis of myotonic dystrophy. MEDICINA CLÍNICA. 2011; 136(7): 303-308. Editorial Material. |
1,385 |
Q2 |
|
2010 |
Ávila-Fernández, A.; Cantalapiedra, D.; Aller, E.; Vallespín, E., Aguirre-Lambán, J.; Blanco-Kelly, F.; Corton, M.; Riveiro-Álvarez, R.; Allikmets, R.; Trujillo-Tiebas, M. J.; Millán, J. M.; Cremers, F. P.; Ayuso C. Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. MOLECULAR VISION. 2010; 16(2): 550-558. Article. |
2,511 |
Q2 |
|
2010 |
Fofanova-Gambetti, O. V.; Hwa, V.; Wit, J. M.; Domene, H. M.; Argente, J.; Bang, P.; Högler, W.; Kirsch, S.; Pihoker, C.; Chiu, H. K.; Cohen, L.; Jacobsen, C.; Jasper, H. G.; Haeusler, G.; Campos-Barros, A.; Gallego-Gómez, E.; Gracía-Bouthelier, R: van Duyvenvoorde, H. A.; Pozo, J.; Rosenfeld, R. G. Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2010; 95(9); 4184-8191. Article. |
6,495 |
Q1 |
|
2010 |
Senou, M.; Khalifa, C.; Thimmesch, M.; Jouret, F.; Devuyst, O.; Col, V.; Audinot, J. N.; Lipnik, P.; Moreno, J. C.; Van Sande, J.; Dumont, J. E.; Many, M. C.; Colin, I. M.; Gérard, A. C. A coherent organization of differentiation proteins is required to maintain an appropriate thyroid function in the Pendred thyroid. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM.; 2010; 95(8); 4021-4030. Article. |
6,495 |
Q1 |
|
2010 |
Daly, S. B.; Urquhart, J. E.; Hilton, E.; McKenzie, E. A.; Kammerer, R. A.; Lewis, M.; Kerr, B.; Stuart, H.; Donnai, D.; Long, D. A.; Burgu, B.; Aydogdu, O.; Derbent, M.; García-Minaur, S.; Reardon, W.; Gener, B.; Shalev, S.; Smith, R.; Woolf, A. S.; Black, G. C.; Newman, W. G. Mutations in HPSE2 Cause Urofacial Syndrome. AMERICAN JOURNAL OF HUMAN GENETICS. 2010; 86(6): 963-969. Article. |
11,68 |
Q1 |
|
2010 |
Lapunzina, P.; Aglan, M.; Temtamy, S.; Caparros-Martín, J. A.; Valencia, M.; Leton, R.; Martínez-Glez, V.; Elhossini, R.; Amr, K.; Vilaboa, N.; Ruiz-Pérez, V. L. Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta. AMERICAN JOURNAL OF HUMAN GENETICS. 2010; 87(1): 110-114. Article. |
11,68 |
Q1 |
|
2010 |
Romanelli, V.; Belinchon, A.; Benito-Sanz, S.; Martínez-Glez, V.; Gracía-Bouthelier, R.; Heath, KE.; Campos-Barros, A.; García-Minaur, S.; Fernández, L.; Meneses, H.; López-Siguero, JP.; Guillén-Navarro, E.; Gómez-Puertas, P.; Wesselink, JJ.; Mercado, G.; Esteban-Marfil, V.; Palomo, R.; Mena, R.; Sánchez, A.; del Campo, M.; Lapunzina, P. CDKN1C (p57(Kip2)) Analysis in Beckwith-Wiedemann Syndrome (BWS) Patients: Genotype-Phenotype Correlations, Novel Mutations, and Polymorphisms. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2010; 152A(6): 1390-1397. Article. |
2.505 |
Q2 |
|
2010 |
Martínez-Glez, V.; Álvarez, L.; Franco-Hernández, C.; Torres-Martín, M.; de Campos, J. M.; Isla, A.; Vaquero, J.; Lassaletta, L.; Castresana, J. S.; Casartelli, C.; Rey, JA. Genomic deletions at 1p and 14q are associated with an abnormal cDNA microarray gene expression pattern in meningiomas but not in schwannomas. CANCER GENETICS AND CYTOGENETICS. 2010; 196(1): 1-6. Article. |
1,551 |
Q4 |
|
2010 |
Nevado, J.; Sanz, R.; Sánchez-Rodríguez, C.; García-Berrocal, J. R.; Martín-Sanz, E.; González-García, J. A.; Esteban-Sánchez, J.; Ramírez-Camacho, R. Ginkgo biloba extract (EGb761) protects against aging-related caspase-mediated apoptosis in rat cochlea. ACTA OTO-LARYNGOLOGICA. 2010; 130(10): 1101-1112. Article. |
1,2 |
Q2 |
|
2010 |
González-García, J. A.; Nevado, J.; García-Berrocal, J. R.; Sánchez-Rodríguez, C.; Trinidad, A.; Sanz, R.; Ramírez-Camacho, R. Endogenous protection against oxidative stress caused by cisplatin: role of superoxide dismutase. ACTA OTO-LARYNGOLOGICA. 2010; 130(4): 453-457. Article. |
1,2 |
Q2 |
|
2010 |
García-Berrocal, J. R.; Nevado, J.; González-García, J. A.; Sánchez-Rodriguez, C.; Sanz, R.; Trinidad, A.; Espana, P.; Citores, M. J.; Ramirez-Camacho, R. Heat shock protein 70 and cellular disturbances in cochlear cisplatin ototoxicity model. JOURNAL OF LARYNGOLOGY AND OTOLOGY. 2010; 124(6): 599-609. Article. |
0,697 |
Q4 |
|
2010 |
García-Escudero, V.; García-Gómez, A.; Gargini, R.; Martín-Bermejo, M. J.; Langa, E.; de Yebenes, J. G.; Delicado, A.; Ávila, J.; Moreno-Flores, M. T.; Lim, F. Prevention of Senescence Progression in Reversibly Immortalized Human Ensheathing Glia Permits Their Survival After Deimmortalization. MOLECULAR THERAPY. 2010; 18(2): 394-403. Article. |
7,149 |
Q1 |
|
2010 |
Zhang, F.; Potocki, L.; Sampson, J. B.; Liu, P. F.; Sánchez-Valle, A.; Robbins-Furman, P.; Navarro, A. D.; Wheeler, P.G.; Spence, J. E.; Brasington, C.K.; Withers, M. A.; Lupski, J. R. Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS. AMERICAN JOURNAL OF HUMAN GENETICS. 2010; 86(3): 462-470. Article. |
11,68 |
Q1 |
|
2010 |
Antonell, A.; Del Campo, M.; Magano, L. F.; Kaufmann, L.; de la Iglesia, J. M.; Gallastegui, F.; Flores, R.; Schweigmann, U.; Fauth, C.; Kotzot, D.; Pérez-Jurado, L. A. Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile. JOURNAL OF MEDICAL GENETICS. 2010; 47(5): 312-320. Article. |
7,037 |
Q1 |
|
2010 |
Barroso, E.; Benito-Sanz, S.; Belinchón, A.; Yuste-Checa, P.; Gracía, R.; Aragonés, A.; Campos-Barros, A.; Heath, K. E. Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Leri-Weill dyschondrosteosis (LWD). EUROPEAN JOURNAL OF MEDICAL GENETICS. 2010; 53(4): 204-207. Article. |
2,335 |
Q3 |
|
2010 |
D'haene, B.; Nevado, J.; Pugeat, M.; Pierquin, G.; Lowry, R. B.; Reardon, W.; Delicado, A.; García-Minaur, S.; Palomares, M.; Courtens, W.; Stefanova, M.; Wallace, S.; Watkins, W.; Shelling, A. N.; Wieczorek, D.; Veitia, R. A.; De Paepe, A.; Lapunzina, P.; De Baere, E. FOXL2 Copy Number Changes in the Molecular Pathogenesis of BPES: Unique Cohort of 17 Deletions. HUMAN MUTATION. 2010; 31(5): E1332. Article. |
5,956 |
Q1 |
|
2010 |
Louie, C. M.; Caridi, G.; Lopes, V. S.; Brancati, F.; Kispert, A.; Lancaster, M. A.; Schlossman, A. M.; Otto, E. A.; Leitges, M.; Grone, H. J.; López, I.; Gudiseva, H. V.; O'Toole, J. F.; Vallespin, E.; Ayyagari, R.; Ayuso, C.; Cremers, F. P. M.; den Hollander, AI.; Koenekoop, R. K.; Dallapiccola, B.; Ghiggeri, G.M.; Hildebrandt, F.; Valente, E. M.; Williams, D. S.; Gleeson, J. G. NATURE GENETICS. 2010; 42(2): 175-U117. Article. |
36,377 |
Q1 |
|
2010 |
Vallespín, E.; Ávila-Fernández, A.; Almoguera, B.; Cantalapiedra, D.; García-Hoyos, M.; Riveiro-Álvarez, R.; Aguirre-Lamban, J.; Bustamante-Aragonés, A.; Trujillo-Tiebas, M. J.; Ayuso, C. Novel human pathological mutations. Gene symbol: LCA5. Disease: Leber Congenital Amaurosis (LCA). HUMAN GENETICS. 2010; 127(1): 118-118. Article. |
5,047 |
Q1 |
|
2010 |
Vallespín, E.; Ávila-Fernández, A.; Vélez-Monsalve, C.; Almoguera, B.; Martínez-García, M.; Gómez-Dominguez, B.; González-Roubaud, C.; Cantalapiedra, D.; Trujillo-Tiebas, M. J.; Ayuso, C. Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis. HUMAN GENETICS. 2010;127(1): 119-119. Article. |
5,047 |
Q1 |
|
2010 |
Kobayashi, T.; Aoki, Y.; Niihori, T.; Cave, H.; Verloes, A.; Okamoto, N.; Kawame, H.; Fujiwara, I.; Takada, F.; Ohata, T.; Sakazume, S.; Ando, T.; Nakagawa, N.; Lapunzina, P.; Meneses, A. G.; Gillessen-Kaesbach, G.; Wieczorek, D.; Kurosawa, K.; Mizuno, S.; Ohashi, H.; David, A.; Philip, N.; Guliyeva, A.; Narumi, Y.; Kure, S.; Tsuchiya, S.; Matsubara, Y. Molecular and Clinical Analysis of RAF1 in Noonan Syndrome and Related Disorders: Dephosphorylation of Serine 259 as the Essential Mechanism for Mutant Activation. HUMAN MUTATION. 2010; 31(3): 184-294. Article. |
5,956 |
Q1 |
|
2010 |
L.; Fernández-Cancio, M.; Carrascosa, A.; Andaluz, P.; Toran, N.; Piro, C.; Vilaro, E.; Vicens-Calvet, E.; Gussinye, M.; Albisu, M. A.; Yeste, D.; Clemente, M.; de la Calle, IH.; Del Campo, M.; Vendrell, T.; Blanco, A.; Martínez-Mora, J.; Granada, M. L.; Salinas, I.; Forn, J.; Calaf, J.; Angerri, O.; Martínez-Sopena, M. J.; del Valle, J.; García, E.; Gracia-Bouthelier, R.; Lapunzina, P.; Mayayo, E.; Labarta, J. I.; Lledo, G.; del Pozo, J. S.; Arroyo, J.; Pérez-Aytes, A.; Beneyto, M.; Segura, A.; Borras, V.; Gabau, E.; Caimari, M.; Rodriguez, A.; Martínez-Aedo, M. J.; Carrera, M.; Castano, L.; Andrade, M.; de la Vega, JAB. Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. 2010; 95(4): 1876-1888. Article. |
6,495 |
Q1 |
|
2010 |
Campana, H.; Pawluk, M. S.; Camelo, J. S. L. Births prevalence of 27 selected congenital anomalies in 7 geographic regions of Argentina. ARCHIVOS ARGENTINOS DE PEDIATRIA. 2010; 108(5): 409-417. Article. |
0,432 |
Q4 |
|
2010 |
Martínez-Glez, V.; Romanelli, V.; Mori, MA.; Gracia, R.; Segovia, M.; González-Meneses, A.; López-Gutiérrez, J. C.; Gean, E.; Martorell, L.; Lapunzina, P. Macrocephaly-Capillary Malformation: Analysis of 13 Patients and Review of the Diagnostic Criteria. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2010; 152a(12): 3101-3106. Review. |
2,505 |
Q2 |
|
2010 |
Moreno, J. C.; Visser, T. J. Genetics and phenomics of hypothyroidism and goiter due to iodotyrosine deiodinase (DEHAL1) gene mutations. MOLECULAR AND CELLULAR ENDOCRINOLOGY. 2010; 322: 91-98. Review |
4,119 |
Q2 |
|
2009 |
Rodriguez-Manas, L; El-Assar, M; Vallejo, S; Lopez-Doriga, P; Solis, J; Petidier, R; Montes, M; Nevado, J; Castro, M; Gomez-Guerrero, C; Peiro, C; Sanchez-Ferrer, CF. Endothelial dysfunction in aged humans is related with oxidative stress and vascular inflammation. AGING CELL. 2009; 8(3): 226-238 |
7,554 |
Q1
|
|
2009 |
Roche, A; Perez-Duenas, B; Camacho, JA; Torres, RJ; Puig, JG; Garcia-Cazorla, A; Artuch, R. Efficacy of Rasburicase in Hyperuricemia Secondary to Lesch-Nyhan Syndrome. AMERICAN JOURNAL OF KIDNEY DISEASES. 2009; 53(4): 677-680 |
5,152 |
Q1
|
|
2009 |
Nevado, J; de Torres, ML; Fernandez, L; Mori, MA; Villa, A; Palomares, M; Garcia-Santiago, F; Mansilla, E; Garcia-Minaur, S; Delicado, A; Lapunzina, P. Unusual Four-Generation Chromosome-22 Rearrangement: When "Normality" Masks Abnormality. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2009; 149A(7): 1561-1564 |
2,404 |
Q3
|
|
2009 |
Martinez-Fernandez, P; Hierro, L; Jara, P; Alvarez, L. Knockdown of ATP8B1 expression leads to specific downregulation of the bile acid sensor FXR in HepG2 cells: effect of the FXR agonist GW4064. AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY. 2009; 296(5): G1119-G1129 |
3,258 |
Q2
|
|
2009 |
Fernandez, L; Nevado, J; Santos, F; Heine-Suner, D; Martinez-Glez, V; Garcia-Minaur, S; Palomo, R; Delicado, A; Pajares, IL; Palomares, M; Garcia-Guereta, L; Valverde, E; Hawkins, F; Lapunzina, P. A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review. BMC MEDICAL GENETICS. 2009; 10: 48 |
2,840 |
Q2
|
|
2009 |
Garcia, MG; Puig, JG; Torres, RJ. Abnormal adenosine and dopamine receptor expression in lymphocytes of Lesch-Nyhan patients. BRAIN BEHAVIOR AND IMMUNITY. 2009; 23(8): 1125-1131 |
5,061 |
Q1
|
|
2009 |
Barroso, E; Pita, G; Arias, JI; Menendez, P; Zamora, P; Blanco, M; Benitez, J; Ribas, G. The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features. BREAST CANCER RESEARCH AND TREATMENT. 2009; 118(3): 655-660 |
4,696 |
Q1
|
|
2009 |
Riveiro-Alvarez, R; Aguirre-Lamban, J; Lopez-Martinez, MA; Trujillo-Tiebas, MJ; Cantalapiedra, D; Vallespin, E; Avila-Fernandez, A; Ramos, C; Ayuso, C. Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. BRITISH JOURNAL OF OPHTHALMOLOGY. 2009; 93(10): 1359-1364 |
2,917 |
Q1
|
|
2009 |
Aguirre-Lamban, J; Riveiro-Alvarez, R; Maia-Lopes, S; Cantalapiedra, D; Vallespin, E; Avila-Fernandez, A; Villaverde-Montero, C; Trujillo-Tiebas, MJ; Ramos, C; Ayuso, C. Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants. BRITISH JOURNAL OF OPHTHALMOLOGY. 2009; 93(5): 614-621 |
2,917 |
Q1
|
|
2009 |
Franco-Hernandez, C; Martinez-Glez, V; de Campos, JM; Isla, A; Vaquero, J; Gutierrez, M; Casartelli, C; Rey, JA. Allelic status of 1p and 19q in oligodendrogliomas and glioblastomas: multiplex ligation-dependent probe amplification versus loss of heterozygosity. CANCER GENETICS AND CYTOGENETICS. 2009; 190(2): 93-96 |
1,537 |
Q3
|
|
2009 |
Lassaletta, L; Martinez-Glez, V; Torres-Martin, M; Rey, JA; Gavilan, J. cDNA microarray expression profile in vestibular schwannoma: correlation with clinical and radiological features. CANCER GENETICS AND CYTOGENETICS. 2009; 194(2): 125-127 |
1,537 |
Q3
|
|
2009 |
de Graaff, LCG; Argente, J; Veenma, DCM; Herrebout, MAC; Friesema, ECH; Uitterlinden, AG; Drent, ML; Campos-Barros, A; Hokken-Koelega, ACS. Genetic screening of a Dutch population with isolated GH deficiency (IGHD). CLINICAL ENDOCRINOLOGY. 2009; 70(5): 742-750 |
3,201 |
Q2
|
|
2009 |
Solera, J; Arias, P; Aminoso, C; Gonzalez-Casado, I; Garre, P; Herranz, L; Villarroel, A; Cruz, M; Janez, M; Pallardo, LF; Gracia, R. Identification of eight new mutations in the GCK gene by DHPLC screening in a Spanish population. DIABETES RESEARCH AND CLINICAL PRACTICE. 2009; 85(1): 20-23 |
2,160 |
Q3
|
|
2009 |
Romacho, T; Azcutia, V; Vazquez-Bella, M; Matesanz, N; Cercas, E; Nevado, J; Carraro, R; Rodriguez-Manas, L; Sanchez-Ferrer, CF; Peiro, C. Extracellular PBEF/NAMPT/visfatin activates pro-inflammatory signalling in human vascular smooth muscle cells through nicotinamide phosphoribosyltransferase activity. DIABETOLOGIA. 2009; 52(11): 2455-2463 |
6,551 |
Q1
|
|
2009 |
Bijlsma, EK; Gijsbers, ACJ; Schuurs-Hoeijmakers, JHM; van Haeringen, A; van de Putte, DEF; Anderlid, BM; Lundin, J; Lapunzina, P; Jurado, LAP; Delle Chiaie, B; Loeys, B; Menten, B; Oostra, A; Verhelst, H; Amor, DJ; Bruno, DL; van Essen, AJ; Hordijk, R; Si. Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals. EUROPEAN JOURNAL OF MEDICAL GENETICS. 2009; 52(40239): 77-87 |
1,568 |
Q3
|
|
2009 |
Ezquieta,B.;Oyarzabal,M.;Barrio,R.;Luzuriaga,C.;Hermoso,F.;Lechuga,J. L.;Quinteiro,S.;Rodriguez,A.;Labarta,J. I.;Gutierrez Macias,A.;Gallego,M.;Bellon,J. M.. Monogenic and polygenic models detected in steroid 21-hydroxylase deficiency-related paediatric hyperandrogenism. HORMONE RESEARCH. 2009; 71(1): 28-37 |
N/A |
N/A
|
|
2009 |
Aguirre-Lamban,J.;Riveiro-Alvarez,R.;Cantalapiedra,D.;Avila-Fernandez,A.;Vallespin,E.;Villaverde-Montero,C.;Gomez-Dominguez,B.;Auz-Alexandre,C. L.;Trujillo-Tiebas,M. J.;Ayuso,C.. Novel human pathological mutations. Gene symbol: ABCA4. Disease: macular dystrophy. HUMAN GENETICS. 2009; 126(2): 330 |
4,523 |
Q1
|
|
2009 |
Aguirre-Lamban,J.;Riveiro-Alvarez,R.;Garcia-Hoyos,M.;Cantalapiedra,D.;Martinez-Garcia,M.;Vallespin,E.;Avila-Fernandez,A.;Villaverde-Montero,C.;Trujillo-Tiebas,M. J.;Ayuso,C.. Novel human pathological mutations. Gene symbol: ABCA4. Disease: Stargardt disease. HUMAN GENETICS. 2009; 126(2): 341 |
4,523 |
Q1
|
|
2009 |
Auz-Alexandre,C. L.;Vallespin,E.;Aguirre-Lamban,J.;Cantalapiedra,D.;Avila-Fernandez,A.;Villaverde-Montero,C.;Ainse,E.;Trujillo-Tiebas,M. J.;Ayuso,C.. Novel human pathological mutations. Gene symbol: GUCY2D. Disease: Leber congenital amaurosis. HUMAN GENETICS. 2009; 125(3): 349 |
4,523 |
Q1
|
|
2009 |
Valencia, M; Lapunzina, P; Lim, D; Zannolli, R; Bartholdi, D; Wollnik, B; Al-Ajlouni, O; Eid, SS; Cox, H; Buoni, S; Hayek, J; Martinez-Frias, ML; Antonio, PA; Temtamy, S; Aglan, M; Goodship, JA; Ruiz-Perez, VL. Widening the Mutation Spectrum of EVC and EVC2: Ectopic Expression of Weyer Variants in NIH 3T3 Fibroblasts Disrupts Hedgehog Signaling. HUMAN MUTATION. 2009; 30(12): 1667-1675 |
6,887 |
Q1
|
|
2009 |
Martinez-Glez, V; Franco-Hernandez, C; Alvarez, L; De Campos, JM; Isla, A; Vaquero, J; Lassaletta, L; Casartelli, C; Rey, JA. Meningiomas and schwannomas: Molecular subgroup classification found by expression arrays. INTERNATIONAL JOURNAL OF ONCOLOGY. 2009; 34(2): 493-504 |
2,447 |
Q3
|
|
2009 |
Valverde, D; Pereiro, I; Vallespin, E; Ayuso, C; Borrego, S; Baiget, M. Complexity of Phenotype-Genotype Correlations in Spanish Patients with RDH12 Mutations. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE. 2009; 50(3): 1065-1068 |
3,431 |
Q1
|
|
2009 |
Kleefstra, T; van Zelst-Stams, WA; Nillesen, WM; Cormier-Daire, V; Houge, G; Foulds, N; van Dooren, M; Willemsen, MH; Pfundt, R; Turner, A; Wilson, M; McGaughran, J; Rauch, A; Zenker, M; Adam, MP; Innes, M; Davies, C; Lopez, AGM; Casalone, R; Weber, A; Br. Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. JOURNAL OF MEDICAL GENETICS. 2009; 46(9): 598-606 |
5,751 |
Q1
|
|
2009 |
Jenkins, ZA; van Kogelenberg, M; Morgan, T; Jeffs, A; Fukuzawa, R; Pearl, E; Thaller, C; Hing, AV; Porteous, ME; Garcia-Minaur, S; Bohring, A; Lacombe, D; Stewart, F; Fiskerstrand, T; Bindoff, L; Berland, S; Ades, LC; Tchan, M; David, A; Wilson, LC; Henne. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. NATURE GENETICS. 2009; 41(1): 95-100 |
34,284 |
Q1
|
|
2009 |
Franco-Hernandez, C; Martinez-Glez, V; Torres-Martin, M; de Campos, JM; Isla, A; Vaquero, J; Casartelli, C; Rey, JA. Identification of genetic alterations by multiple ligation-dependent probe amplification (MLPA) analysis in oligodendrogliomas. NEUROCIRUGIA. 2009; 20(2): 117-123 |
0,247 |
Q4
|
|
2009 |
Jara, P; Hierro, L; Martinez-Fernandez, P; Alvarez-Doforno, R; Yanez, F; Diaz, MC; Camarena, C; De la Vega, A; Frauca, E; Munoz-Bartolo, G; Lopez-Santamaria, M; Larrauri, J; Alvarez, L. Recurrence of Bile Salt Export Pump Deficiency after Liver Transplantation.. NEW ENGLAND JOURNAL OF MEDICINE. 2009; 361(14): 1359-1367 |
47,050 |
Q1
|
|
2009 |
Romanelli, V; Belinchon, A; Campos-Barros, A; Heath, KE; Garcia-Minaur, S; Martinez-Glez, V; Palomo, R; Mercado, G; Gracia, R; Lapunzina, P. CDKN1C Mutations in HELLP/Preeclamptic Mothers of Beckwith-Wiedemann Syndrome (BWS) Patients. PLACENTA. 2009; 30(6): 551-554 |
2,767 |
Q1
|
|
2009 |
Berdasco, M; Ropero, S; Setien, F; Fraga, MF; Lapunzina, P; Losson, R; Alaminos, M; Cheung, NK; Rahman, N; Esteller, M. Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2009; 106(51): 21830-21835 |
9,432 |
Q1
|
|
|
|
|