Vilain E - Search Results

1

Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene.

Shalitin S, Josefsberg Z, Vilain E, Shomrat R, Weintrob N. Shalitin S, et al. Among authors: vilain e. Mol Genet Metab. 2002 Jun;76(2):157-61. doi: 10.1016/s1096-7192(02)00029-x. Mol Genet Metab. 2002. PMID: 12083815

2

Mammalian sex determination: from gonads to brain.

Vilain E, McCabe ER. Vilain E, et al. Mol Genet Metab. 1998 Oct;65(2):74-84. doi: 10.1006/mgme.1998.2749. Mol Genet Metab. 1998. PMID: 9787099 Review.

3

DAX1 gene expression upregulated by steroidogenic factor 1 in an adrenocortical carcinoma cell line.

Vilain E, Guo W, Zhang YH, McCabe ER. Vilain E, et al. Biochem Mol Med. 1997 Jun;61(1):1-8. doi: 10.1006/bmme.1997.2601. Biochem Mol Med. 1997. PMID: 9232190

4

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.

5

Midkine is expressed early in rat fetal adrenal development.

Dewing P, Ching ST, Zhang YH, Huang BL, Peirce RM, McCabe ER, Vilain E. Dewing P, et al. Among authors: vilain e. Mol Genet Metab. 2000 Dec;71(4):616-22. doi: 10.1006/mgme.2000.3111. Mol Genet Metab. 2000. PMID: 11136554

6

Primate DAX1, SRY, and SOX9: evolutionary stratification of sex-determination pathway.

Patel M, Dorman KS, Zhang YH, Huang BL, Arnold AP, Sinsheimer JS, Vilain E, McCabe ER. Patel M, et al. Among authors: vilain e. Am J Hum Genet. 2001 Jan;68(1):275-80. doi: 10.1086/316932. Epub 2000 Dec 7. Am J Hum Genet. 2001. PMID: 11112659 Free PMC article.

7

Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency.

Cederbaum SD, Koo-McCoy S, Tein I, Hsu BY, Ganguly A, Vilain E, Dipple K, Cvitanovic-Sojat L, Stanley C. Cederbaum SD, et al. Among authors: vilain e. Mol Genet Metab. 2002 Nov;77(3):195-201. doi: 10.1016/s1096-7192(02)00169-5. Mol Genet Metab. 2002. PMID: 12409266

8

IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.

Vilain E, Le Merrer M, Lecointre C, Desangles F, Kay MA, Maroteaux P, McCabe ER. Vilain E, et al. J Clin Endocrinol Metab. 1999 Dec;84(12):4335-40. doi: 10.1210/jcem.84.12.6186. J Clin Endocrinol Metab. 1999. PMID: 10599684 Review.

9

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.

10

AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency.

Zhang Y, Dipple KM, Vilain E, Huang BL, Finlayson G, Therrell BL, Worley K, Deininger P, McCabe ER. Zhang Y, et al. Among authors: vilain e. Hum Mutat. 2000;15(4):316-23. doi: 10.1002/(SICI)1098-1004(200004)15:4<316::AID-HUMU3>3.0.CO;2-9. Hum Mutat. 2000. PMID: 10737976

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