McElreavey K - Search Results

1

Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis.

Bastian C, Muller JB, Lortat-Jacob S, Nihoul-Fékété C, Bignon-Topalovic J, McElreavey K, Bashamboo A, Brauner R. Bastian C, et al. Among authors: mcelreavey k. Fertil Steril. 2015 May;103(5):1297-304. doi: 10.1016/j.fertnstert.2015.01.043. Epub 2015 Mar 23. Fertil Steril. 2015. PMID: 25813279 Free article.

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

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

4

[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.

5

Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome.

Abbas N, McElreavey K, Leconiat M, Vilain E, Jaubert F, Berger R, Nihoul-Fekete C, Rappaport R, Fellous M. Abbas N, et al. Among authors: mcelreavey k. C R Acad Sci III. 1993;316(4):375-83. C R Acad Sci III. 1993. PMID: 8402263

6

Pathology of 46,XY pure gonadal dysgenesis: absence of testis differentiation associated with mutations in the testis-determining factor.

Vilain E, Jaubert F, Fellous M, McElreavey K. Vilain E, et al. Among authors: mcelreavey k. Differentiation. 1993 Jan;52(2):151-9. doi: 10.1111/j.1432-0436.1993.tb00625.x. Differentiation. 1993. PMID: 8472885

7

Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.

McElreavey K, Vilain E, Barbaux S, Fuqua JS, Fechner PY, Souleyreau N, Doco-Fenzy M, Gabriel R, Quereux C, Fellous M, Berkovitz GD. McElreavey K, et al. Proc Natl Acad Sci U S A. 1996 Aug 6;93(16):8590-4. doi: 10.1073/pnas.93.16.8590. Proc Natl Acad Sci U S A. 1996. PMID: 8710915 Free PMC article.

8

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

9

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

10

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

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