Results 121 to 130 of about 56,903 (162)

A Novel NR5A1 Mutation in a Thai Boy with 46, XY DSD. [PDF]

J Pediatr Genet
Wacharasindhu S, Ittiwut C, Ittiwut R, Aroonparkmongkol S, Suphapeetiporn K.   +4 more
europepmc   +1 more source

<italic>WT1</italic> Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis.

Sex Dev
Atlas G, Bell KM, Robevska G, van den Bergen J, Hadiprajitno PI, Listyasari N, Santosa A, Juniarto AZ, Francis DI, O Apos Connell MA, Tan TY, Tucker E, Faradz SMH, Sinclair A, Ayers K.   +14 more
europepmc   +1 more source

A novel heterozygous SF1/NR5A1 gene variant causes 46,XY DSD-gonadal dysgenesis with hypergonadotropic hypogonadism without adrenal insufficiency. [PDF]

Genes Dis
Ramos L.
europepmc   +1 more source

Correction to: "An Infant With DHX37 Variant: A Novel Etiology of 46,XY DSD and Literature Review". [PDF]

JCEM Case Rep
europepmc   +1 more source

Next-Generation Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH, DHX37) in Adults With 46,XY DSD. [PDF]

J Endocr Soc, 2019
Buonocore F, Clifford-Mobley O, King TFJ, Striglioni N, Man E, Suntharalingham JP, Del Valle I, Lin L, Lagos CF, Rumsby G, Conway GS, Achermann JC.   +11 more
europepmc   +1 more source

Three-Year Experience of Cytogenetic and Molecular Genetic Evaluation in Patients With Disorders of Sex Development at a Tertiary Care Centre in Eastern India. [PDF]

Cureus
Sahoo S, Tripathy BB, Tripathy PR, Narayan RK, Kumar KP, Gaikwad MR.   +5 more
europepmc   +1 more source