173 related articles for article (PubMed ID: 31816618)
1. Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis.
Andrade JGR; Fabbri-Scallet H; Dos Santos AP; Cools M; Werner R; Hiort O; de Mello MP; Guerra-Júnior G; Maciel-Guerra AT
Sex Dev; 2019; 13(4):171-177. PubMed ID: 31816618
[TBL] [Abstract][Full Text] [Related]
2. 46,XY and 45,X/46,XY testicular dysgenesis: similar gonadal and genital phenotype, different prognosis.
Andrade JG; Guerra-Júnior G; Maciel-Guerra AT
Arq Bras Endocrinol Metabol; 2010 Mar; 54(3):331-4. PubMed ID: 20520965
[TBL] [Abstract][Full Text] [Related]
3. Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies.
Farrugia MK; Sebire NJ; Achermann JC; Eisawi A; Duffy PG; Mushtaq I
J Pediatr Urol; 2013 Apr; 9(2):139-44. PubMed ID: 22281282
[TBL] [Abstract][Full Text] [Related]
4. The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD?
Ocal G; Berberoğlu M; Sıklar Z; Ruhi HI; Tükün A; Camtosun E; Savaş Erdeve S; Hacıhamdioğlu B; Fitöz S
Eur J Pediatr; 2012 Oct; 171(10):1497-502. PubMed ID: 22644991
[TBL] [Abstract][Full Text] [Related]
5. Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants.
dos Santos AP; Andrade JG; Piveta CS; de Paulo J; Guerra G; de Mello MP; Maciel-Guerra AT
BMC Med Genet; 2013 Nov; 14():115. PubMed ID: 24192396
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants.
Nishi MY; Costa EM; Oliveira SB; Mendonca BB; Domenice S
Horm Res Paediatr; 2011; 75(1):26-31. PubMed ID: 20699606
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome.
McElreavey K; Jorgensen A; Eozenou C; Merel T; Bignon-Topalovic J; Tan DS; Houzelstein D; Buonocore F; Warr N; Kay RGG; Peycelon M; Siffroi JP; Mazen I; Achermann JC; Shcherbak Y; Leger J; Sallai A; Carel JC; Martinerie L; Le Ru R; Conway GS; Mignot B; Van Maldergem L; Bertalan R; Globa E; Brauner R; Jauch R; Nef S; Greenfield A; Bashamboo A
Genet Med; 2020 Jan; 22(1):150-159. PubMed ID: 31337883
[TBL] [Abstract][Full Text] [Related]
12. Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis.
Tagliarini EB; Assumpção JG; Scolfaro MR; Mello MP; Maciel-Guerra AT; Guerra Júnior G; Hackel C
Braz J Med Biol Res; 2005 Jan; 38(1):17-25. PubMed ID: 15665984
[TBL] [Abstract][Full Text] [Related]
13. [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]
14. NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review.
Wei X; Li S; He Y
Medicine (Baltimore); 2023 Dec; 102(52):e36725. PubMed ID: 38206718
[TBL] [Abstract][Full Text] [Related]
15. Role of gonadal dysgenesis in gonadoblastoma induction in 46, XY individuals. The Leuven experience in 46, XY pure gonadal dysgenesis and testicular feminization syndromes.
Lukusa T; Fryns JP; Kleczkowska A; Van den Berghe H
Genet Couns; 1991; 2(1):9-16. PubMed ID: 1741980
[TBL] [Abstract][Full Text] [Related]
16. [Clinical features and Y chromosome abnormalities in children with 45, X/46, XY mosaicism].
Xia JK; Chen C; Hou YQ; Tian FY; Kong XD
Zhonghua Er Ke Za Zhi; 2024 Feb; 62(2):165-169. PubMed ID: 38264817
[No Abstract] [Full Text] [Related]
17. Mixed gonadal dysgenesis.
Zäh W; Kalderon AE; Tucci JR
Acta Endocrinol Suppl (Copenh); 1975; 197():1-39. PubMed ID: 1094776
[TBL] [Abstract][Full Text] [Related]
18. [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]
19. Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis.
Chauhan V; Jyotsna VP; Jain V; Khadgawat R; Dada R
Horm Metab Res; 2017 Jan; 49(1):36-42. PubMed ID: 27711951
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
