Results 141 to 150 of about 168,585,035 (181)

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

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

7th International Workshop on SOX Transcription Factors. [PDF]

Biol Open
Uchida A.
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

Uncovering Hidden Genetic Contributors to 46,XY Disorders of Sex Development Through Phenotype-Driven Rare Variant Assessment: A Pilot Study. [PDF]

Genes (Basel)
Tang Y, Chen Y, Zhang Q, Tang J, Ding Y, Li J, Yu T, Wang X.   +7 more
europepmc   +1 more source

GATA4 Single-Amino Acid Deletion in a Male Patient With Congenital Heart Defects, Differences of Sex Development, and Diaphragmatic Hernia. [PDF]

Clin Genet
Koga N, Katoh-Fukui Y, Fukui S, Kashimada K, Fukami M.   +4 more
europepmc   +1 more source

Discordant Gender Identity and Surgical Goals in Two Adults with Comparable Ambiguous Genitalia: Two Case Reports from a Resource-Limited Setting. [PDF]

Cureus
Ainomugisha B, Kajabwangu R, Byamukama O, Kato KP, Geissbuhler V, Kayondo M.   +5 more
europepmc   +1 more source

Comprehensively identifying and validating the implications of NR5A1 and DHX37 variants for 46,XY disorders of sex development diagnosis. [PDF]

BMC Med Genomics
Li C, Yang B, Li X, Zhen S, Liu X, Li P, Chen W, Wang X, Xue M.   +8 more
europepmc   +1 more source

Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD.

J Clin Endocrinol Metab
Sepich M, Bertelloni S, Tyutyusheva N, Lucas-Herald A, Mazen I, Cools M, Van Paemel R, Poyrazoğlu Ş, Hiort O, Döhnert U, Neumann U, Phan-Hug F, Atapattu N, Seneviratne S, Markosyan R, Rey R, Suco S, Baronio F, Lichiardopol C, Verkauskas G, Stancampiano M, Russo G, Konrad D, Lenherr-Taube N, Hannema S, Gazdagh G, Peroni D, Ahmed SF.   +27 more
europepmc   +1 more source