Results 91 to 100 of about 5,340 (169)

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

A rare case of 46,XX gonadal dysgenesis, Mayer-Rokitansky-Kuster-Hauser syndrome, pituitary and thyroid hypoplasia. [PDF]

Endocrinol Diabetes Metab Case Rep, 2022
Ambachew R, Gulilat A, Aberra T, Terefework Z, Bedilu W, Tarekegn G, Reja A.   +6 more
europepmc   +1 more source

Gonadal Dysgenesis

Southern Medical Journal, 1973
openaire   +4 more sources

A novel homozygous frameshift mutation in MCM8 causes primary gonadal dysgenesis in both genders. [PDF]

J Assist Reprod Genet
Dong J, Zou Z, Wang W, Chen L, Ma R, Ge X, Jing J, Ma J, Yao B.   +8 more
europepmc   +1 more source

Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant. [PDF]

Front Genet, 2022
Alhamoudi KM, Alghamdi B, Aljomaiah A, Alswailem M, Al-Hindi H, Alzahrani AS.   +5 more
europepmc   +1 more source

Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing. [PDF]

Front Endocrinol (Lausanne)
Zhang N, You S, Guo J, Chang X, Qiu J, Hua K.   +5 more
europepmc   +1 more source

Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C. [PDF]

Eur J Endocrinol, 2021
Cicek D, Warr N, Yesil G, Kocak Eker H, Bas F, Poyrazoglu S, Darendeliler F, Direk G, Hatipoglu N, Eltan M, Yavas Abali Z, Gurpinar Tosun B, Kaygusuz SB, Seven Menevse T, Helvacioglu D, Turan S, Bereket A, Reeves R, Simon M, Mackenzie M, Teboul L, Greenfield A, Guran T.   +22 more
europepmc   +1 more source

Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review. [PDF]

Front Genet, 2022
Zhang W, Mao J, Wang X, Sun B, Zhao Z, Zhang X, Nie M, Wu X.   +7 more
europepmc   +1 more source

Patatin-Like Phospholipase Domain-Containing Protein 8 Mutation Associated with Gonadal Dysgenesis, Cerebellar Ataxia, and Peripheral Neuropathy in an Indian Family. [PDF]

Ann Indian Acad Neurol
Saluja A, Anees S, Ghotekar LH, Yadav V, Haque A, Sharma MC.   +5 more
europepmc   +1 more source

Mixed gonadal dysgenesis with an ovotestis on imaging mimicking ovotesticular disorder of sexual differentiation. [PDF]

Proc (Bayl Univ Med Cent), 2021
Fine S, Ford K, Trotter B, Le HK, Crisp M, Santiago J, Birkemeier K.   +6 more
europepmc   +1 more source