Jaubert F - Search Results

1

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: jaubert f. Am J Hum Genet. 1992 May;50(5):1008-11. Am J Hum Genet. 1992. PMID: 1570829 Free PMC article.

2

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. Among authors: jaubert f. Genomics. 1992 Jul;13(3):838-40. doi: 10.1016/0888-7543(92)90164-n. Genomics. 1992. PMID: 1639410

3

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: jaubert f. C R Acad Sci III. 1993;316(4):375-83. C R Acad Sci III. 1993. PMID: 8402263

4

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: jaubert f. Differentiation. 1993 Jan;52(2):151-9. doi: 10.1111/j.1432-0436.1993.tb00625.x. Differentiation. 1993. PMID: 8472885

5

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: jaubert f. Nat Genet. 1997 Dec;17(4):467-70. doi: 10.1038/ng1297-467. Nat Genet. 1997. PMID: 9398852

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: jaubert f. 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: jaubert f. Genomics. 1997 Apr 15;41(2):271-4. doi: 10.1006/geno.1997.4648. Genomics. 1997. PMID: 9143505

8

Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome.

Veitia RA, Nunes M, Quintana-Murci L, Rappaport R, Thibaud E, Jaubert F, Fellous M, McElreavey K, Gonçalves J, Silva M, Rodrigues JC, Caspurro M, Boieiro F, Marques R, Lavinha J. Veitia RA, et al. Among authors: jaubert f. Am J Hum Genet. 1998 Sep;63(3):901-5. doi: 10.1086/302023. Am J Hum Genet. 1998. PMID: 9718353 Free PMC article. No abstract available.

9

SRY protein is expressed in ovotestis and streak gonads from human sex-reversal.

Salas-Cortés L, Jaubert F, Nihoul-Feketé C, Brauner R, Rosemblatt M, Fellous M. Salas-Cortés L, et al. Among authors: jaubert f. Cytogenet Cell Genet. 2000;91(1-4):212-6. doi: 10.1159/000056847. Cytogenet Cell Genet. 2000. PMID: 11173859

10

Expression of the human SRY protein during development in normal male gonadal and sex-reversed tissues.

Salas-Cortés L, Jaubert F, Bono MR, Fellous M, Rosemblatt M. Salas-Cortés L, et al. Among authors: jaubert f. J Exp Zool. 2001 Nov 1;290(6):607-15. doi: 10.1002/jez.1111. J Exp Zool. 2001. PMID: 11748609

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