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Page 1
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.
Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Schoch K, et al. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.
[A neuropeptide at the origin of testicular aging?].
Lacombe A, Lelièvre V, Roselli CE, Salameh W, Lue YH, Lawson G, Muller JM, Waschek JA, Vilain E. Lacombe A, et al. Among authors: vilain e. Med Sci (Paris). 2006 Oct;22(10):809-11. doi: 10.1051/medsci/20062210809. Med Sci (Paris). 2006. PMID: 17026927 Free article. French. No abstract available.
DAX1 mutations map to putative structural domains in a deduced three-dimensional model.
Zhang YH, Guo W, Wagner RL, Huang BL, McCabe L, Vilain E, Burris TP, Anyane-Yeboa K, Burghes AH, Chitayat D, Chudley AE, Genel M, Gertner JM, Klingensmith GJ, Levine SN, Nakamoto J, New MI, Pagon RA, Pappas JG, Quigley CA, Rosenthal IM, Baxter JD, Fletterick RJ, McCabe ER. Zhang YH, et al. Among authors: vilain e. Am J Hum Genet. 1998 Apr;62(4):855-64. doi: 10.1086/301782. Am J Hum Genet. 1998. PMID: 9529340 Free PMC article.
Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.
Jordan BK, Mohammed M, Ching ST, Délot E, Chen XN, Dewing P, Swain A, Rao PN, Elejalde BR, Vilain E. Jordan BK, et al. Among authors: vilain e. Am J Hum Genet. 2001 May;68(5):1102-9. doi: 10.1086/320125. Epub 2001 Mar 29. Am J Hum Genet. 2001. PMID: 11283799 Free PMC article.
237 results