Results 101 to 110 of about 2,312 (175)

Twins With Pathogenic <i>RNF113A</i> Variant Presenting With Testicular Regression Syndrome. [PDF]

JCEM Case Rep
Resnick O, Beauchamp G.
europepmc   +1 more source

[Pure gonadal dysgenesis with 46/XY karyotype].

Endokrynologia Polska, 1967
K, Boczkowski, J, Teter, J, Potocki
openaire   +1 more source

Cytogenomic Investigation of Individuals with Ovotesticular Difference of Sex Development.

Sex Dev
Lima-Santos J, Nascimento-Vidoti CG, Correia-Costa GR, Campos NLV, Guaragna MS, de Oliveira FM, Barros BA, Miranda ML, Antolini Tavares A, Guerra-Junior G, Maciel-Guerra AT, Fabbri-Scallet H, Vieira TP.   +12 more
europepmc   +1 more source

The Role of WWOX Gene Variant in Hypospadias and 46,XY Disorders of Sexual Development. [PDF]

Reprod Sci
Denkboy Ongen Y, Tezcan-Unlu H, Unal U, Efendi-Erdem E, Cecener G, Eren E.   +5 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

Clinical practice guidelines for the management of differences of sex development in Japan. [PDF]

Endocr J
Ishii T, Kashimada K, Kawai M, Itonaga T, Iwasa T, Utsunomiya A, Ozaki K, Kawamura K, Kanno J, Koh J, Kojima Y, Sasaki S, Sato H, Shiraishi K, Naiki Y, Nishiyama M, Hamajima T, Fujisawa Y, Makita N, Matsui K, Yanai T, Horikawa R, Ogata T.   +22 more
europepmc   +2 more sources

A qPCR-based algorithm for the diagnosis of classic and non-classic Turner syndrome. [PDF]

Indian J Med Res
Bose C, Mondal S, Saha C, Sengupta N, Bhattacharyya NP, Mukhopadhyay S.   +5 more
europepmc   +1 more source

Two Cases of 46,XY Differences of Sex Development Due to Gonadal Dysgenesis Associated With Novel <i>NR5A1</i> Variants. [PDF]

JCEM Case Rep
Gialouris JV, Cheong PL, Zekanovic S, Wang M, Wijewardene A.   +4 more
europepmc   +1 more source

Prenatal diagnosis, genetic analysis, and pregnancy outcomes of fetuses with mosaic isodicentric Y chromosomes. [PDF]

Mol Cytogenet
Gao T, Wei H, Zheng Y, Xiao Y, Zheng M, Hong S.   +5 more
europepmc   +1 more source