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Ali A, Christie PT, Grigorieva IV, Harding B, Van Esch H, Ahmed SF, Bitner-Glindzicz M, Blind E, Bloch C, Christin P, Clayton P, Gecz J, Gilbert-Dussardier B, Guillen-Navarro E, Hackett A, Halac I, Hendy GN, Lalloo F, Mache CJ, Mughal Z, Ong AC, Rinat C, Shaw N, Smithson SF, Tolmie J, Weill J, Nesbit MA, Thakker RV. Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet. 2007 Feb 1;16(3):265-75. Epub 2007 Jan 8. PubMed PMID: 17210674.
AÑO: 2007; IF: 7.806
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17210674
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Ramos-Trujillo E, González-Acosta H, Flores C, García-Nieto V, Guillén E, Gracia S, Vicente C, Espinosa L, Maseda MA, Santos F, Camacho JA, Claverie-Martín F. A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease. J Hum Genet. 2007;52(3):255-61. Epub 2007 Jan 30. PubMed PMID: 17262170.
AÑO: 2007; IF: 2.275
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Villaverde C, Trujillo-Tiebas MJ, Garcia-Hoyos M, Perez N, Narvaiza RC, Guillén E, Ayuso C. Novel human pathological mutations. Gene symbol: CHM. Disease: choroideraemia. Hum Genet. 2007 Jun;121(5):648. PubMed PMID: 17879443.
AÑO: 2007; IF: 3.974
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Clewing JM, Fryssira H, Goodman D, Smithson SF, Sloan EA, Lou S, Huang Y, Choi K, Lücke T, Alpay H, André JL, Asakura Y, Biebuyck-Gouge N, Bogdanovic R, Bonneau D, Cancrini C, Cochat P, Cockfield S, Collard L, Cordeiro I, Cormier-Daire V, Cransberg K, Cutka K, Deschenes G, Ehrich JH, Fründ S, Georgaki H, Guillen-Navarro E, Hinkelmann B, Kanariou M, Kasap B, Kilic SS, Lama G, Lamfers P, Loirat C, Majore S, Milford D, Morin D, Ozdemir N, Pontz BF, Proesmans W, Psoni S, Reichenbach H, Reif S, Rusu C, Saraiva JM, Sakallioglu O, Schmidt B, Shoemaker L, Sigaudy S, Smith G, Sotsiou F, Stajic N, Stein A, Stray-Pedersen A, Taha D, Taque S, Tizard J, Tsimaratos M, Wong NA, Boerkoel CF. Schimke immunoosseous dysplasia: suggestions of genetic diversity. Hum Mutat. 2007 Mar;28(3):273-83. PubMed PMID: 17089404.
AÑO: 2007; IF: 6.273
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Martínez-Lage JF, Ruíz-Espejo AM, Gilabert A, Pérez-Espejo MA, Guillén-Navarro E. Positional skull deformities in children: skull deformation without synostosis. Childs Nerv Syst. 2006 Apr;22(4):368-74. Epub 2005 Oct 20. PubMed PMID: 16237569.
AÑO: 2006; IF: 1.257
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