ライフサイエンスコーパス: gonadal dysgenesis

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1 e associated with human sex reversal (46, XY gonadal dysgenesis).

2 ns of mitochondrial translation in mammalian gonadal dysgenesis.

3 quences is associated with TGCTs in cases of gonadal dysgenesis.

4 life-threatening glomerular nephropathy and gonadal dysgenesis.

5 f the 11 antisense constructs also repressed gonadal dysgenesis, a manifestation of P activity in the

6 ic problems including nephropathy, blastoma, gonadal dysgenesis and genital discordance.

7 These telomeric P elements repress P-induced gonadal dysgenesis and germ-line hypermutability in both

8 Dax1-deficient testis lay the foundation for gonadal dysgenesis and infertility in adult mice and, po

9 s of four sex-reversed XY females, each with gonadal dysgenesis and other variable malformations, and

10 s were strong repressors of pupal lethality, gonadal dysgenesis and P-element-mediated mutability; ho

11 Mutations in SRY cause XY gonadal dysgenesis and somatic sex reversal.

12 Predominant risk groups include syndromes of gonadal dysgenesis and Ullrich-Turner syndrome.

13 d in a number of cases to be associated with gonadal dysgenesis and XY sex reversal, suggesting that

14 ncy, as well as the risk for kidney disease, gonadal dysgenesis, and malignancy in their offspring.

15 ions causing human sex reversal (46, XY pure gonadal dysgenesis) are clustered in this domain.

16 Patients with 46,XY gonadal dysgenesis (GD) exhibit genital anomalies, which

17 result in 46,XY DSD with partial or complete gonadal dysgenesis implicate this pathway in normal huma

18 d sex-reversing 9p deletion, suggesting that gonadal dysgenesis in 9p-deleted individuals might be du

19 re tested for repression of P-strain-induced gonadal dysgenesis in females and for repression of tran

20 nd DAX1 each cause adrenal insufficiency and gonadal dysgenesis in humans, although the pathological

21 nd generated XY(DMY-) mutants to investigate gonadal dysgenesis in medaka.

22 ovel mutant that is useful for investigating gonadal dysgenesis in phenotypic female patients with th

23 urinary anomalies in humans, including 46,XY gonadal dysgenesis, indicating that WT1 plays a critical

24 Mutations in human SRY cause gonadal dysgenesis leading to XY female development (Swy

25 l mice and provide a molecular basis for the gonadal dysgenesis observed in ataxia telangiectasia, th

26 FOXL2 mutations cause gonadal dysgenesis or premature ovarian failure (POF) in

27 l now has been restricted to XY females with gonadal dysgenesis, progressive glomerulopathy, and a si

28 The H(hsp/CP) transgenes are able to induce gonadal dysgenesis when the transposase they encode has

29 sic diagnosis of Frasier syndrome with 46,XY gonadal dysgenesis, whereas her sister has progressive g

30 ed dogs with XY chromosomal sex but complete gonadal dysgenesis, which is classified as 78, XY disord

31 Mutations in SRY cause 46 XY gonadal dysgenesis with female somatic phenotype (Swyer

32 Mutations in SRY cause gonadal dysgenesis with female somatic phenotype.

33 XX female gonadal dysgenesis (XX-GD) is a rare, genetically hetero

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