Results 141 to 150 of about 9,016 (186)

Stage IIIC Bilateral Dysgerminoma in a 16-Year-Old Phenotypic Female With 46,XY Complete Gonadal Dysgenesis and Primary Amenorrhea: A Case Report. [PDF]

Clin Case Rep
Vasef M, Afshar Moghaddam N, Raoufi M, Iranipour M, Moghadami S.   +4 more
europepmc   +1 more source

<i>SOX9</i> gene anomalies and campomelic / acampomelic campomelic dysplasia: case report and literature review. [PDF]

Front Genet
Towers CV, Meadows JT, Petruzzi PT, Grabeel KL.   +3 more
europepmc   +1 more source

Investigation of balanced chromosomal aberrations prevalence in healthy Turkish Cypriot couples. [PDF]

Glob Med Genet
Deryali D, Cobanogullari H, Ergoren MC.
europepmc   +1 more source

Hematologic malignancies in pediatric patients with RUNX1-familial platelet disorder with associated myeloid malignancy. [PDF]

Blood Adv
Kajdic A, Deuitch NT, Bresciani E, Chong S, Craft K, Davis J, Bashtawi R, McReynolds LJ, Giri N, Young DJ, Liu PP.   +10 more
europepmc   +1 more source

46,XX/46,XY Chimera with Ovotesticular Disorder of Sex Development (OT-DSD): A Rare Entity

Open Journal of Genetics
Mama Sy, Chérif Mouhamed Dial, Racha Ibondou, Abdoulaye Séga Diallo, Abdoulaye Ba, Oumar Faye   +5 more
openaire   +1 more source

Incomplete obstructive diseases of the female genital tract: a classification analysis of 72 cases and a literature review. [PDF]

Front Med (Lausanne)
Si H, Zhang C, Yuan M, Dong L, Jia H, Xie Z, Wang H.   +6 more
europepmc   +1 more source

Maternal Microchimerism Is Uncommon in Patients with Hypospadias.

Sex Dev
Muranishi Y, Katoh-Fukui Y, Kon M, Koga N, Tamaoka S, Hattori A, Shinohara N, Abe T, Fukami M.   +8 more
europepmc   +1 more source

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Testicular Architecture of Men with 46,XX Testicular Disorders of Sex Development

Sexual Development, 2023
Background: A subtype of disorders of sex development (DSD) in individuals with a 46,XX karyotype who are phenotypically male is classified as testicular DSD (46,XX TDSD). These individuals develop testes but are infertile due to germ cell loss. However, little is known about their testicular architecture.
Mirkka Hiort, Julia Rohayem, Regine Knaf, Sandra Laurentino, Agnethe Berglund, Claus H. Gravholt, Jörg Gromoll, Joachim Wistuba   +7 more
openaire   +3 more sources

Molecular mechanisms associated with 46,XX disorders of sex development

Clinical Science, 2016
In the female gonad, distinct signalling pathways activate ovarian differentiation while repressing the formation of testes. Human disorders of sex development (DSDs), such as 46,XX DSDs, can arise when this signalling is aberrant. Here we review the current understanding of the genetic mechanisms that control gonadal development, with particular ...
Ingrid, Knarston, Katie, Ayers, Andrew, Sinclair   +2 more
openaire   +2 more sources