460 results on '"McElreavey, K."'
Search Results
2. Expanding DSD phenotypes associated with variants in the DEAH-box RNA helicase DHX37
3. Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development
4. Biological assessment of abnormal genitalia
5. Gene dosage effects in 46, XY DSD: usefulness of CGH technologies for diagnosis
6. Mutations in NALP12 Cause Hereditary Periodic Fever Syndromes
7. First Asian Workshop on Genomics and Community Genetics
8. A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome
9. Understanding Inherited Disease through Human Migrations : A South-West Asian Perspective
10. Sperm global DNA methylation level: association with semen parameters and genome integrity
11. Effect of temozolomide on male gametes: an epigenetic risk to the offspring?
12. Understanding the genetic aetiology in patients with XY DSD
13. Familial Case of 46,XY Disorder of Sex Development DSD and Congenital Heart Defects (CHD) Associated with a Mutation in GATA4.
14. Mutations in NR5A1 Encoding Steroidogenic Factor 1 Are Associated with Spermatogenic Failure.
15. The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility
16. Polymorphismes du chromosome Y et fertilité masculine
17. Élargissement du spectre phénotypique du syndrome meds (microcéphalie, épilepsie et diabète néonatal) lié au gène IER3IP1 : à propos d’un cas Tunisien présentant un hypogonadisme
18. Mutations in the protamine locus: association with spermatogenic failure?
19. Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype
20. Sons conceived by assisted reproduction techniques inherit deletions in the azoospermia factor (AZF) region of the Y chromosome and the DAZ gene copy number
21. Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder
22. Mutations in the protamine 1 gene associated with male infertility
23. Sperm-FISH analysis in a pericentric chromosome 1 inversion, 46,XY,inv(1)(p22q42), associated with infertility
24. Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome
25. Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’
26. Haplotypes, mutations and male fertility: the story of the testis-specific ubiquitin protease USP26
27. Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation
28. Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study
29. Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility
30. Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis
31. Y chromosome haplotypes and testicular cancer in the English population
32. Transmission of an unbalanced (Y;1) translocation in Brittany, France
33. Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses
34. Identification of a Y chromosome haplogroup associated with reduced sperm counts
35. A High Frequency of Y Chromosome Deletions in Males with Nonidiopathic Infertility*
36. GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’
37. Infertilité masculine et les microdélétions du chromosome Y
38. SRY-negative XX fetus with complete male phenotype
39. Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome
40. New Technologies for the identification of novel markers of Disorders of Sex Development
41. The origins of the Negroid Makrani population from Pakistan: maternal and paternal perspectives
42. Identification of genetic risk factors associated with infertility. A Y chromosome haplogroup is associated with reduced sperm counts
43. Genotype and phenotype correlations in oligozoospermic and azoospermic men with Y chromosome microdeletions
44. Genetics of male infertility in Iran
45. Identification of a novel mammalian DM-domain containing gene, candidate for premature ovarian failure
46. Identification of human SRY-interacting factors
47. Analysis of Genetic Sex Reversal by Comparative Genomic Hybridization
48. Mutational analysis of DM domain genes in the region on 9p associated with 46,XY gonadal dysgenesis
49. Paternally transmitted recurrent true-hermaphroditism associated with SRY mosaicism
50. Report of fertility in a woman with a predominantly 46, XY karyotype in a family with multiple disorders of sexual development
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