Results 101 to 110 of about 110,162 (292)

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants

BMC Medical Genetics, 2013
BackgroundPartial and mixed gonadal dysgenesis (PGD and MGD) are characterized by genital ambiguity and the finding of either a streak gonad and a dysgenetic testis or two dysgenetic testes.
A. P. dos Santos, Juliana Gabriel Ribeiro Andrade, C. S. C. Piveta, J. de Paulo, G. Guerra‐Júnior, M. de Mello, A. Maciel-Guerra   +6 more
semanticscholar   +1 more source

Gonadal Dysgenesis with an XY Chromosome Pattern [PDF]

, 1963
Marijke Hartog, Russell Fraser
openalex   +1 more source

Genetic Analysis for the Diagnosis of Disorders of Sexual Development in Indonesia [PDF]

, 2016
Disorders of sex development (DSD) is defined by congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical, while in clinical practice this term means any abnormality of the external genitalia.
Faradz, S. M. (Sultana)
core  

Minor Abnormalities of Testis Development in Mice Lacking the Gene Encoding the MAPK Signalling Component, MAP3K1 [PDF]

, 2011
In mammals, the Y chromosome is a dominant male determinant, causing the bipotential gonad to develop as a testis. Recently, cases of familial and spontaneous 46,XY disorders of sex development (DSD) have been attributed to mutations in the human gene ...
A Hubner, A Minden, A Pearlman, Andy Greenfield, Asha Dopplapudi, B Bonnesen, B Moniot, BD Cuevas, C Le Caignec, C Widmann, Christoph Winkler, D Bogani, D Jawaheer, D Wilhelm, D Wilhelm, Debora Bogani, E Wright, EA Craig, EA Espiner, GJ Bouma, H Chi, H Ostrer, H Ostrer, Harry Ostrer, Hilda Tateossian, J Brennan, J Karl, J Schmahl, J Whiting, JC Achermann, JS Colvin, JW Foster, K Sarafoglou, L Smith, L Zhang, M Aouadi, M Takekawa, Michael Cheeseman, MR Junttila, N Warr, Nick Warr, NL Johnson, P Berta, P Gerwins, P Siggers, PA Lee, Pam Siggers, R Hiramatsu, Rachel Brixey, S Bagheri-Fam, S Barbaux, S Cox, S Grimmond, S Nef, Sara Wells, T Wagner, T Yujiri, T Yujiri, TK Schlesinger, Y Kim, Y Xia, Ying Xia   +61 more
core   +3 more sources

Dicentric Y chromosome in mixed gonadal dysgenesis. [PDF]

, 1975
A Hayek, E.J. Yunis
openalex   +1 more source

Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis

Archives of Endocrinology and Metabolism
SUMMARY A gonadal tumor was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and mixed gonadal dysgenesis.
Sarah Crestian Cunha, Juliana Gabriel Ribeiro de Andrade, Camila Matsunaga de Angelis, Athanase Billis, Joaquim Murray Bustorff-Silva, Andréa Trevas Maciel-Guerra, Márcio Lopes Miranda, Gil Guerra-Júnior   +7 more
doaj   +1 more source

NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review. [PDF]

Medicine (Baltimore), 2023
Wei X, Li S, He Y.
europepmc   +1 more source

A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY. [PDF]

Clin Pediatr Endocrinol, 2023
Narita C, Takubo N, Sammori M, Matsumura Y, Shimura K, Ozaki R, Haruna H, Narumi S, Ishii T, Hasegawa T, Shimizu T.   +10 more
europepmc   +1 more source

Gonadoblastoma in familial XY pure gonadal dysgenesis [PDF]

, 1975

openalex   +1 more source

Estatura alta e hipodesenvolvimento mamário após reposição estrogênica em paciente com hipogonadismo hipergonadotrófico e cariótipo 45,X/46,X, der(X) com superdosagem do gene SHOX [PDF]

SHOX is exclusively expressed in the developing distal limb bones of human embryos and in the first and second pharyngeal arches. It works as a promoter for linear growth and as a repressor of growth plate fusion.
BILLERBECK, Ana Elisa Correia, CARVALHO, Luciani Renata, CORREA, Rafaela Vieira, COSTA, Elaine Maria Frade, CRUZES, André Luis, DOMENICE, Sorahia, MENDONCA, Berenice B., NISHI, Mirian Yumie   +7 more
core   +1 more source