Results 171 to 180 of about 168,585,466 (202)

<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

Prenatal sex discordance revealing SRY-positive 46,XX testicular disorder of sex development. [PDF]

Urol Case Rep
Tobia-Gonzalez S, Barganski N, Miller M, Renck A, Smith-Harrison L.   +4 more
europepmc   +1 more source

A dynamic "hormonal tug-of-war" driven by a functioning ovarian remnant after testis-preserving partial gonadectomy in ovotesticular disorders of sex development: a case report. [PDF]

Clin Pediatr Endocrinol
Johnin K, Matsui K, Moritani S, Chatani S, Itoh R, Mori Y, Nakagawa S, Kobayashi K, Yoshida T, Kageyama S.   +9 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

Genetically Confirmed Osteogenesis Imperfecta (COL1A1) With Unexplained Ambiguous Genitalia in a 46,XY Child: An Index Case Report. [PDF]

Clin Case Rep
Agarwal H, Jha T, Azmi MO, Sarkar S, Suresh V.   +4 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

Canine XX Disorders/Differences of Sex Development (SRY-Negative): A Potential Role for the <i>FOXL2</i> Gene.

Sex Dev
Krzeminska P.
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

Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing. [PDF]

Orphanet J Rare Dis
Błaszczyk E, Więcek M, Jazela-Stanek A, Kudela G, Koszutski T, Kowalczyk K, Sikora J, Wiernik A, Żarczyńska M, Kempińska W, Bielska-Brodziak A, Gawlik-Starzyk A.   +11 more
europepmc   +1 more source

PEG-rhGH successfully improved the height of a patient with rare 45,X[40]/46,XY[31] disorder of sex development: the first reported case. [PDF]

Transl Pediatr
Li S, Ge R, Liao N, Su Y, Lei C, Hu S, Wang Y, Ren Y.   +7 more
europepmc   +1 more source