Results 131 to 140 of about 168,585,035 (181)

Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the <i>NR5A1</i> gene: a case report. [PDF]

Front Pediatr
Martinková J, Mihulová M, Balaščaková M, Trachta J, Křepelová A.   +4 more
europepmc   +1 more source

<i>NR5A1</i> gene variants: variable phenotypes, new variants, and genotype-phenotype correlations. [PDF]

Front Endocrinol (Lausanne)
Li L, Mao D, Li X, Song Y, Ren X, Gong C.   +5 more
europepmc   +1 more source

Conundrum resolved by optical genome mapping in a 46,XY girl with difference in sex development and skeletal anomalies. [PDF]

JCEM Case Rep
Daghsni M, Guo F, Forsyth R, Reyes-Múgica M, Yatsenko SA, Witchel SF.   +5 more
europepmc   +1 more source

Laparoscopic excision of a large prostatic utricle in an infant with 46,xx Sry-negative differences of sex development: a case report. [PDF]

J Surg Case Rep
Costa C, Dastidar A, Rijhwani A, Ryan F, Shears D, Owen M, Chakraborty S, Moniati F, Dzhuma K.   +8 more
europepmc   +1 more source

Spectrum of Cytogenetic and Molecular Abnormalities in Disorders of Sex Development: A Retrospective Observational Study From Western India. [PDF]

Cureus
Acharya S, Chakrabarty B, Bansal N, Roy S, Kotwal N, Dagar V.   +5 more
europepmc   +1 more source

German law on protection of children with DSD: first data on care after enactment. [PDF]

Endocr Connect
Neumann U, Binder G, Eckoldt F, Döhnert U, Dunstheimer D, Holterhus PM, Ludwikowski B, Wabitsch M, Woelfle J, Richter-Unruh A, Kamrath C.   +10 more
europepmc   +1 more source

Impact of the Empower-DSD training program on the health-related quality of life in children, adolescents and young adults with differences of sex development and their parents. [PDF]

Front Pediatr
Neumann U, Schilling R, Wiegmann S, Ernst M, Winter M, Wechsung K, Marshall L, Döhnert U, Hiort O, Rohayem J, Liesenkötter KP, Richter-Unruh A, Janssen-Schmidchen G, Herrmann G, Wabitsch M, Roll S, Keil T, Stöckigt B.   +17 more
europepmc   +1 more source

Psychosocial Screening in Disorders/Differences of Sex Development: Psychometric Evaluation of the Psychosocial Assessment Tool. [PDF]

Horm Res Paediatr, 2018
Ernst MM, Gardner M, Mara CA, Délot EC, Fechner PY, Fox M, Rutter MM, Speiser PW, Vilain E, Weidler EM, Sandberg DE, The DSD-Translational Research Network Leadership Group and Psychosocial Workgroup.   +11 more
europepmc   +1 more source

Post-translational modification of proteins in the human testis development pathway. [PDF]

Hum Reprod Update
Idris FP, Ferreira LGA, Houston B, Humphrey SJ, Sinclair AH, Ayers KL.   +5 more
europepmc   +1 more source

Novel and Known <i>DHX37</i> Variants in 46,XY DSD: Expanding the Genotypic and Phenotypic Spectrum. [PDF]

Genes (Basel)
Xu X, Wu X, Chen S, Miao H, Fang K, Wu D, Zhang Y, Yang X.   +7 more
europepmc   +1 more source