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342 results on '"XY gonadal dysgenesis"'

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1. Germ Cell Tumors in 46, XY Gonadal Dysgenesis

2. Germ Cell Tumors in 46, XY Gonadal Dysgenesis.

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3. Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis

4. An Infant With DHX37 Variant: A Novel Etiology of 46,XY DSD and Literature Review.

5. Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child.

6. Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis.

7. Mode of delivery of women with Swyer syndrome in a German case series.

8. Swyer Syndrome: A Case of Dysgerminoma Solely within the Fallopian Tube.

9. Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh

10. Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37

11. Two successful pregnancies after in vitro fertilisation with oocyte donation in a patient with Swyer syndrome – a case report

12. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

13. Amenorréia primária e cariótipo XY: identificando pacientes em risco Primary amenorrhea and XY karyotype: identifying patients in risk

15. Expanding the spectrum of syndromic PPP2R3C-related XY gonadal dysgenesis to XX gonadal dysgenesis

16. Author response for 'Expanding the spectrum of syndromic PPP2R3C ‐related XY gonadal dysgenesis to XX gonadal dysgenesis'

17. Seedless orchids: Issues in the anorchid adult

18. 46,XY complete gonadal dysgenesis in a familial case with a rare mutation in the desert hedgehog (DHH) gene

19. Swyer Syndrome/46 XY Gonadal Dysgenesis: Remove the Tubes or Not?

21. Inherited Human Sex Reversal due to Loss of a Water-Mediated Hydrogen Bond at a Conserved Protein-DNA Interface

22. Linear and Nonlinear Heart Rate Variability Analysis in Gonadal Dysgenesis (Swyer Syndrome): A Case Report

23. The Desert Hedgehog Signalling Pathway in Human Gonadal Development and Differences of Sex Development

24. State of the art review in gonadal dysgenesis: challenges in diagnosis and management.

25. A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review

26. MON-075 Autonomy and Self-Determination in a Patient with XY Gonadal Dysgenesis

27. XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing

28. Disruption of the topological associated domain at Xp21.2 is related to gonadal dysgenesis: A general mechanism of pathogenesis

29. Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective

30. In vitrofunctional characterization of the novelDHHmutations p.(Asn337Lysfs*24) and p.(Glu212Lys) associated with gonadal dysgenesis

32. Clinical, Cytogenetic, and Histopathologic Profile of a Case Of 46,XY Gonadal Dysgenesis

34. Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure.

35. XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome.

36. Disorders of sexual development and associated changes in the pituitary-gonadal axis in dogs

37. Undifferentiated Gonadal Tissue, Y Chromosome Instability, and Tumors in XY Gonadal Dysgenesis.

38. Störungen der männlichen Gonadendifferenzierung.

39. A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome

41. Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci.

42. Clinical implications of overt and cryptic Y mosaicism in individuals with dysgenetic gonads

43. CRISPR/Cas9-mediated simultaneous knockout of Dmrt1 and Dmrt3 does not recapitulate the 46,XY gonadal dysgenesis observed in 9p24.3 deletion patients

44. DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation

45. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

46. Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes.

47. Gonadoblastoma and Dysgerminoma Associated with XY Gonadal Dysgenesis in an Adolescent with Chronic Renal Failure: A Case of Frasier Syndrome

49. A Phenotypic Female Adolescent with Primary Amenorrhea and Dysmorphic Features

50. Tumors Containing Both Germ Cell and Sex Cord-Stromal Elements