536 related articles for article (PubMed ID: 8496317)
1. Report of a kindred with X-linked (or autosomal dominant sex-limited) 46,XY partial gonadal dysgenesis.
Fechner PY; Marcantonio SM; Ogata T; Rosales TO; Smith KD; Goodfellow PN; Migeon CJ; Berkovitz GD
J Clin Endocrinol Metab; 1993 May; 76(5):1248-53. PubMed ID: 8496317
[TBL] [Abstract][Full Text] [Related]
2. Clinical and pathologic spectrum of 46,XY gonadal dysgenesis: its relevance to the understanding of sex differentiation.
Berkovitz GD; Fechner PY; Zacur HW; Rock JA; Snyder HM; Migeon CJ; Perlman EJ
Medicine (Baltimore); 1991 Nov; 70(6):375-83. PubMed ID: 1956279
[TBL] [Abstract][Full Text] [Related]
3. 46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred.
Le Caignec C; Baron S; McElreavey K; Joubert M; Rival JM; Mechinaud F; David A
Am J Med Genet A; 2003 Jan; 116A(1):37-43. PubMed ID: 12476449
[TBL] [Abstract][Full Text] [Related]
4. Linkage analysis of a kindred with inherited 46,XY partial gonadal dysgenesis.
Fuqua JS; Sher ES; Fechner PY; Ostrer H; Oddeux C; Schafer AJ; Rosales TO; Migeon CJ; Berkovitz GD
J Clin Endocrinol Metab; 1996 Dec; 81(12):4479-83. PubMed ID: 8954063
[TBL] [Abstract][Full Text] [Related]
5. Partial gonadal dysgenesis in a patient with a marker Y chromosome.
Fechner PY; Smith KD; Jabs EW; Migeon CJ; Berkovitz GD
Am J Med Genet; 1992 Apr; 42(6):807-12. PubMed ID: 1313209
[TBL] [Abstract][Full Text] [Related]
6. 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
Proc Natl Acad Sci U S A; 1996 Aug; 93(16):8590-4. PubMed ID: 8710915
[TBL] [Abstract][Full Text] [Related]
7. [XY type gonadal dysgenesis, trisomy X and variants].
Kikuchi I; Takeuchi H; Kinoshita K
Nihon Rinsho; 2004 Feb; 62(2):309-12. PubMed ID: 14968537
[TBL] [Abstract][Full Text] [Related]
8. Embryonic testicular regression sequence: a part of the clinical spectrum of 46,XY gonadal dysgenesis.
Marcantonio SM; Fechner PY; Migeon CJ; Perlman EJ; Berkovitz GD
Am J Med Genet; 1994 Jan; 49(1):1-5. PubMed ID: 8172233
[TBL] [Abstract][Full Text] [Related]
9. [Causes of ambiguous external genitalia in neonates].
Zdravković D; Milenković T; Sedlecki K; Guć-Sćekić M; Rajić V; Banićević M
Srp Arh Celok Lek; 2001; 129(3-4):57-60. PubMed ID: 11534268
[TBL] [Abstract][Full Text] [Related]
10. Management of 46, XY partial gonadal dysgenesis--revisited.
Crone J; Amann G; Gheradini R; Kirchlechner V; Fékété CN
Wien Klin Wochenschr; 2002 Jun; 114(12):462-7. PubMed ID: 12422582
[TBL] [Abstract][Full Text] [Related]
11. Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis.
Jawaheer D; Juo SH; Le Caignec C; David A; Petit C; Gregersen P; Dowbak S; Damle A; McElreavey K; Ostrer H
Clin Genet; 2003 Jun; 63(6):530-5. PubMed ID: 12786760
[TBL] [Abstract][Full Text] [Related]
12. Undifferentiated gonadal tissue, Y chromosome instability, and tumors in XY gonadal dysgenesis.
Beaulieu Bergeron M; Lemieux N; Brochu P
Pediatr Dev Pathol; 2011; 14(6):445-59. PubMed ID: 21692598
[TBL] [Abstract][Full Text] [Related]
13. Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome.
Coutant R; Mallet D; Lahlou N; Bouhours-Nouet N; Guichet A; Coupris L; Croué A; Morel Y
J Clin Endocrinol Metab; 2007 Aug; 92(8):2868-73. PubMed ID: 17488792
[TBL] [Abstract][Full Text] [Related]
14. The X linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies.
Mann JR; Corkery JJ; Fisher HJ; Cameron AH; Mayerová A; Wolf U; Kennaugh AA; Woolley V
J Med Genet; 1983 Aug; 20(4):264-70. PubMed ID: 6620326
[TBL] [Abstract][Full Text] [Related]
15. [Diagnosis and management of 46,XY mixed gonadal dysgenesis and disorder of sexual differentiation].
Verkauskas G; Macianskyte D; Janciauskas D; Preiksa RT; Verkauskiene R; Jaubert F
Medicina (Kaunas); 2009; 45(5):357-64. PubMed ID: 19535881
[TBL] [Abstract][Full Text] [Related]
16. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development.
Benko S; Gordon CT; Mallet D; Sreenivasan R; Thauvin-Robinet C; Brendehaug A; Thomas S; Bruland O; David M; Nicolino M; Labalme A; Sanlaville D; Callier P; Malan V; Huet F; Molven A; Dijoud F; Munnich A; Faivre L; Amiel J; Harley V; Houge G; Morel Y; Lyonnet S
J Med Genet; 2011 Dec; 48(12):825-30. PubMed ID: 22051515
[TBL] [Abstract][Full Text] [Related]
17. Use of a probe for the putative sex determining gene, zinc finger Y, in the study of patients with ambiguous genitalia and XY gonadal dysgenesis.
Erickson RP; Verga V; Dasouki M
Am J Med Genet; 1990 Jun; 36(2):232-6. PubMed ID: 2368811
[TBL] [Abstract][Full Text] [Related]
18. Pathogenetics of 45,X/46,XY gonadal mosaicism.
Reddy KS; Sulcova V
Cytogenet Cell Genet; 1998; 82(1-2):52-7. PubMed ID: 9763660
[TBL] [Abstract][Full Text] [Related]
19. 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
Differentiation; 1993 Jan; 52(2):151-9. PubMed ID: 8472885
[TBL] [Abstract][Full Text] [Related]
20. XY gonadal dysgenesis: aberrant testicular differentiation in the presence of H-Y antigen.
Moltz L; Schwartz U; Pickartz H; Hammerstein J; Wolf U
Obstet Gynecol; 1981 Jul; 58(1):17-25. PubMed ID: 7195530
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]