McElreavey K - Search Results

1

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.

Portnoi MF, Dumargne MC, Rojo S, Witchel SF, Duncan AJ, Eozenou C, Bignon-Topalovic J, Yatsenko SA, Rajkovic A, Reyes-Mugica M, Almstrup K, Fusee L, Srivastava Y, Chantot-Bastaraud S, Hyon C, Louis-Sylvestre C, Validire P, de Malleray Pichard C, Ravel C, Christin-Maitre S, Brauner R, Rossetti R, Persani L, Charreau EH, Dain L, Chiauzzi VA, Mazen I, Rouba H, Schluth-Bolard C, MacGowan S, McLean WHI, Patin E, Rajpert-De Meyts E, Jauch R, Achermann JC, Siffroi JP, McElreavey K, Bashamboo A. Portnoi MF, et al. Among authors: mcelreavey k. Hum Mol Genet. 2018 Apr 1;27(7):1228-1240. doi: 10.1093/hmg/ddy037. Hum Mol Genet. 2018. PMID: 29373757 Free PMC article. Clinical Trial.

2

A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY.

McElreavey K, Rappaport R, Vilain E, Abbas N, Richaud F, Lortat-Jacob S, Berger R, Le Coniat M, Boucekkine C, Kucheria K, et al. McElreavey K, et al. Hum Genet. 1992 Sep-Oct;90(1-2):121-5. doi: 10.1007/BF00210754. Hum Genet. 1992. PMID: 1427767

3

Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.

Vilain E, McElreavey K, Jaubert F, Raymond JP, Richaud F, Fellous M. Vilain E, et al. Among authors: mcelreavey k. Am J Hum Genet. 1992 May;50(5):1008-11. Am J Hum Genet. 1992. PMID: 1570829 Free PMC article.

4

XY sex reversal associated with a nonsense mutation in SRY.

McElreavey KD, Vilain E, Boucekkine C, Vidaud M, Jaubert F, Richaud F, Fellous M. McElreavey KD, et al. Genomics. 1992 Jul;13(3):838-40. doi: 10.1016/0888-7543(92)90164-n. Genomics. 1992. PMID: 1639410

5

Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion.

Tar A, Sólyom J, Györvári B, Ion A, Telvi L, Barbaux S, Souleyreau N, Vilain E, Fellous M, McElreavey K. Tar A, et al. Among authors: mcelreavey k. Hum Genet. 1995 Oct;96(4):464-8. doi: 10.1007/BF00191807. Hum Genet. 1995. PMID: 7557971

6

[Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis].

Boucekkine C, Vilain E, McElreavey K, Jaubert F, Brauner R, Thibaud E, Battin J, Toublanc JE, Kucheria K, Chaabouni S, et al. Boucekkine C, et al. Among authors: mcelreavey k. Ann Endocrinol (Paris). 1994;54(5):315-21. Ann Endocrinol (Paris). 1994. PMID: 8085778 French.

7

Deletions of distal 9p associated with 46,XY male to female sex reversal: definition of the breakpoints at 9p23.3-p24.1.

Veitia R, Nunes M, Brauner R, Doco-Fenzy M, Joanny-Flinois O, Jaubert F, Lortat-Jacob S, Fellous M, McElreavey K. Veitia R, et al. Among authors: mcelreavey k. Genomics. 1997 Apr 15;41(2):271-4. doi: 10.1006/geno.1997.4648. Genomics. 1997. PMID: 9143505

8

Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype.

Veitia R, Ion A, Barbaux S, Jobling MA, Souleyreau N, Ennis K, Ostrer H, Tosi M, Meo T, Chibani J, Fellous M, McElreavey K. Veitia R, et al. Among authors: mcelreavey k. Hum Genet. 1997 May;99(5):648-52. doi: 10.1007/s004390050422. Hum Genet. 1997. PMID: 9150734

9

Donor splice-site mutations in WT1 are responsible for Frasier syndrome.

Barbaux S, Niaudet P, Gubler MC, Grünfeld JP, Jaubert F, Kuttenn F, Fékété CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K. Barbaux S, et al. Among authors: mcelreavey k. Nat Genet. 1997 Dec;17(4):467-70. doi: 10.1038/ng1297-467. Nat Genet. 1997. PMID: 9398852

10

Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene.

Ion R, Telvi L, Chaussain JL, Barbet JP, Nunes M, Safar A, Réthoré MO, Fellous M, McElreavey K. Ion R, et al. Among authors: mcelreavey k. Hum Genet. 1998 Feb;102(2):151-6. doi: 10.1007/s004390050669. Hum Genet. 1998. PMID: 9521582

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