Results 121 to 130 of about 1,174,652 (161)

<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

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

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

Unexpected ethical dilemmas in sex assignment in 46,XY DSD due to 5-alpha reductase type 2 deficiency. [PDF]

Am J Med Genet C Semin Med Genet, 2017
Byers HM, Mohnach LH, Fechner PY, Chen M, Thomas IH, Ramsdell LA, Shnorhavorian M, McCauley EA, Amies Oelschlager AE, Park JM, Sandberg DE, Adam MP, Keegan CE.   +12 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

Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype. [PDF]

PLoS One, 2015
Camats N, Fernández-Cancio M, Audí L, Mullis PE, Moreno F, González Casado I, López-Siguero JP, Corripio R, Bermúdez de la Vega JA, Blanco JA, Flück CE.   +10 more
europepmc   +1 more source