Results 51 to 60 of about 1,109,166 (346)

Améliorer les pratiques de soins pour les personnes présentant une variation du développement du sexe en Suisse. L’École de Lausanne (depuis 2005)

Droit et Cultures, 2021
This article presents a short history of the Lausanne School or “Swiss model” (as it is sometimes called abroad) created in the context of an interdisciplinary “SHS and gender in medicine” project we launched in 2005 to improve medical care for persons ...
Cynthia Kraus, Franziska Phan-Hug, François Ansermet, Blaise Julien Meyrat   +3 more
doaj  

Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development

BMC Medical Genomics, 2022
Background Disorders of sex development (DSD) are congenital disorders in which the development of the chromosomal, gonadal, or anatomical sex is atypical.
Jia Wei, Jiaqi Wu, Wei Ru, Guangjie Chen, Lei Gao, Daxing Tang   +5 more
doaj   +1 more source

Sex-biased gene expression in the developing brain: implications for autism spectrum disorders. [PDF]

, 2013
RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'.
Rennert, Owen M, Ziats, Mark N
core   +2 more sources

A questionnaire-based survey on hyperphagia in individuals with Prader–Willi syndrome in Japan

Endocrine Journal
Prader–Willi syndrome (PWS) is associated with increased mortality, primarily due to complications from hyperphagia-associated obesity. Clinical trials investigating anti-hyperphagic medications are currently underway.
Makiko Tachibana, Yuji Oto, Kenichi Kashimada, Tomohiro Ishii, Yutaka Takahashi, Koji Muroya, Yoko Aoki, Kenji Kurosawa, Tsutomu Ogata, Masanobu Kawai   +9 more
doaj   +1 more source

True hermaphrodite presenting as primary amenorrhea

Indian Journal of Endocrinology and Metabolism, 2012
True hermaphrodite is one of the rare variety of disorders of sex development. Most of them are genotypically females (46 XX) and present as under virilized males. Features of hyperandrogenism are present in those reared as females.
Lal Bahadur Palo, Mary Daniel, Alaganandam Padma, Jaya Prakash Sahoo   +3 more
doaj   +1 more source

Analysis in the influence factors of urethroplasty in DSD

BMC Urology, 2022
Background At present, there is no specific research on the factors affecting the success rate of urethroplasty in patients with DSD. The purpose of this study is to explore the factors affecting the success of urethroplasty in DSD patients, and to ...
Jing Yu, Ning Sun, Hongcheng Song, Minglei Li, Lele Li, Chunxiu Gong, Weiping Zhang   +6 more
doaj   +1 more source

Towards a virtual research environment for paediatric endocrinology across Europe [PDF]

, 2009
Paediatric endocrinology is a medical specialty dealing with variations of physical growth and sexual development in childhood. Genetic anomalies that can cause disorders of sexual development in children are rare.
Ahmed, F., Jiang, J., Sinnott, R.O., Stell, A., Watt, J.   +4 more
core   +2 more sources

Identifying infrequent genetic changes in monozygotic twins afflicted with hypospadias via targeted panel sequencing [PDF]

Investigative and Clinical Urology
Purpose: We aimed to identify the genetic causes of hypospadias in children using targeted gene panel sequencing for disorders of sex development (DSD).
Ja Hye Kim, Kun Suk Kim, Jae Hyeon Han, Dongsu Kim, Chan Hoon Kwak, Jin-Ho Choi, Sang Hoon Song   +6 more
doaj   +1 more source

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development [PDF]

, 2011
Disorders of sex development (DSD) are congenital conditions where chromosomal, gonad or genital development is atypical. In a significant proportion of 46,XY DSD cases it is not possible to identify a causative mutation, making genetic counseling ...
AJ Notini, AJ Paige, AK Bednarek, Andrew Sinclair, D Wilhelm, DM Maatouk, E Sutton, Erin Turbitt, H Stoop, Jacqueline Hewitt, JH Ludes-Meyers, Leendert Looijenga, LH Looijenga, M Cools, M Cools, Martine Cools, MI Nunez, N Bouteille, PA Lee, Peter Koopman, R Hersmus, Remko Hersmus, RI Aqeilan, RI Aqeilan, RI Aqeilan, RI Aqeilan, S Del Mare, SJ White, SJ White, Stefan White, Stenvert Drop, Vincent Harley, Yvonne van der Zwan   +32 more
core   +1 more source

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD)

Endocrine Connections, 2019
Disorders of sex development (DSDs) are a diverse group of conditions where the chromosomal, gonadal or anatomical sex can be atypical. The highly heterogeneous nature of this group of conditions often makes determining a genetic diagnosis challenging ...
L. Hughes, K. McKay Bounford, E. Webb, Pooja Dasani, S. Clokie, Harish Chandran, L. McCarthy, Zainaba Mohamed, J. Kirk, N. Krone, S. Allen, T. Cole   +11 more
semanticscholar   +1 more source