Results 121 to 130 of about 110,162 (292)

Molecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development

Frontiers in Pediatrics
ObjectiveA firm diagnosis revealing the etiology of disorders/differences of sex development (DSD) is most helpful in guiding clinical management. The aim of this study is to investigate molecular genetic diagnoses and surgical treatment in a cohort of ...
Yuenshan Sammi Wong, Yuenshan Sammi Wong, Ho Ming Luk, Ho Chung Yau, Lap Ming Wong, Sarah Wing Yiu Poon, Joanna Yuet Ling Tung, Yuk Him Tam, Yuk Him Tam   +8 more
doaj   +1 more source

Disruption of the topologically associated domain at Xp21.2 is related to 46,XY gonadal dysgenesis. [PDF]

J Med Genet, 2023
Meinel JA, Yumiceba V, Künstner A, Schultz K, Kruse N, Kaiser FJ, Holterhus PM, Claviez A, Hiort O, Busch H, Spielmann M, Werner R.   +11 more
europepmc   +1 more source

Pure Gonadal Dysgenesis [PDF]

Proceedings of the Royal Society of Medicine, 1970
openaire   +3 more sources

Disorders of sex development (DSD): an overview of recent scientific advances [PDF]

, 2014
Developments in biotechnology have radically altered clinical and research themes in the small field of disorders of sex development, as in other rare medical conditions. In the age of genetics, an increasing number of DSDs have been identified. Aided by
Conway, GS
core  

Linkage analysis of a kindred with inherited 46,XY partial gonadal dysgenesis [PDF]

, 1996
John S. Fuqua
openalex   +1 more source

A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication. [PDF]

Int J Mol Sci, 2022
Francese-Santos AP, Meinel JA, Piveta CSC, Andrade JGR, Barros BA, Fabbri-Scallet H, Gil-da-Silva-Lopes VL, Guerra-Junior G, Künstner A, Busch H, Hiort O, de Mello MP, Werner R, Maciel-Guerra AT.   +13 more
europepmc   +1 more source

Unusual combination of acute aortic dissection, Mayer-Rokitansky-Küster-Hauser syndrome, and 46,XX gonadal dysgenesis: A case report. [PDF]

Front Cardiovasc Med, 2022
Zeng Y, Hu Y, Jiang B, Tan L, Tang H.
europepmc   +1 more source

Ovarian dysgenesis associated with an unbalanced X;6 translocation: first characterisation of reproductive anatomy and cytogenetic evaluation in partial trisomy 6 with breakpoints at Xq22 and 6p23. [PDF]

, 2012
The aim of this study was to describe the clinical and laboratory findings associated with a previously unreported unbalanced X;6 translocation. Physical examination, reproductive history and cytogenetic techniques were used to characterise a novel ...
Cotter, Philip D, Marron, Kevin D, Salem, Rifaat D, Shkrobot, Lyuda V, Sills, Eric Scott, Walsh, Harriet MA   +5 more
core   +1 more source

Diabetes Mellitus and Thyroid Autoimmunity in Gonadal Dysgenesis

, 1973
J. Van Campenhout, A. Antaki, E Rasio
openalex   +1 more source

Novel mutation in the SRY gene results in 46,XY gonadal dysgenesis [PDF]

, 1998
Fergus Cameron, Matthijs J. Smith, Garry L. Warne, Andrew Sinclair   +3 more
openalex   +1 more source