Results 61 to 70 of about 1,089,337 (357)

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

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

Gender Identity and Assignment Recommendations in Disorders of Sex Development Patients: 20 Years’ Experience and Challenges

Journal of Clinical Research in Pediatric Endocrinology, 2020
Objective: Gender assignment in infants and children with disorders of sex development (DSD) is a stressful situation for both patient/families and medical professionals.
Fatih Gürbüz, M. Alkan, G. Çelik, A. Bişgin, N. Çekin, I. Ünal, A. Topaloğlu, Ü. Zorludemir, A. Avcı, B. Yüksel   +9 more
semanticscholar   +1 more source

A long-term follow-up of Sex Chromosomal Mosaicism Disorders of Sex Development

Journal of Biomedicine and Translational Research, 2019
Background: Chromosomal mosaicism is characterized by the presence of two or more distinct cell lines in an individual. Mosaicism in sex chromosome is a major component of Disorders of Sex Development (DSD) results in a large clinical spectrum of ...
Nurin Aisyiyah Listyasari, Iit Fitrianingrum, Sultana MH Faradz   +2 more
doaj   +1 more source

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’

European Journal of Endocrinology, 2018
The differential diagnosis of differences or disorders of sex development (DSD) belongs to the most complex fields in medicine. It requires a multidisciplinary team conducting a synoptic and complementary approach consisting of thorough clinical ...
L. Audí, S. Ahmed, N. Krone, M. Cools, K. McElreavey, P. Holterhus, A. Greenfield, A. Bashamboo, O. Hiort, S. Wudy, R. McGowan   +10 more
semanticscholar   +1 more source

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency [PDF]

, 2009
OBJECTIVE. Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are ...
Achermann, J.C., Akkurt, I., Biebermann, H., Cetindag, C., Grüters, A., Hiort, O., Köhler, B., Lin, L., Mazen, I., Rossi, R.   +9 more
core   +2 more sources

46XX testicular disorder of sex development

Journal of Human Reproductive Sciences, 2021
In this case report, we present the case of a 31-year-old man who presented with primary infertility, azoospermia and occasional sexual dysfunction. History and general physical examination were unremarkable. Local examination showed bilateral low volume testes and remaining aspects of the male reproductive tract were unremarkable.
Krishna Chaitanya Mantravadi, Durga Gedela Rao   +1 more
openaire   +3 more sources

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation [PDF]

, 2012
Patients with Disorders of Sex Development (DSD), especially those with gonadal dysgenesis and hypovirilization are at risk of developing malignant type II germ cell tumors/cancer (GCC) (seminoma/dysgerminoma and nonseminoma), with either carcinoma in ...
Alders, M. (Mariëlle), Bernard, P. (Pascal), Boer, S. (Suzan) de, Brüggenwirth, H.T. (Hennie), Drop, S.L.S. (Stenvert), Harley, V.R. (Vincent), Hersmus, R. (Remko), Looijenga, L.H.J. (Leendert), McElreavy, K. (Kenneth), Oosterhuis, J.W. (Wolter), Sreenivasan, R. (Rajini), Stoop, J.A. (Hans), White, S.J. (Stefan), Wolffenbuttel, K.P. (Katja), Zwan, Y.G. (Yvonne ) van der   +14 more
core   +1 more source

Participation of adults with disorders/differences of sex development (DSD) in the clinical study dsd-LIFE: design, methodology, recruitment, data quality and study population

BMC Endocrine Disorders, 2017
Background dsd-LIFE is a comprehensive cross-sectional clinical outcome study of individuals with disorders/differences of sex development (DSD).
Robert Röhle, Katharina Gehrmann, Maria Szarras-Czapnik, Hedi Claahsen-van der Grinten, Catherine Pienkowski, Claire Bouvattier, Peggy Cohen-Kettenis, Anna Nordenström, Ute Thyen, Birgit Köhler, on behalf of the dsd-LIFE group   +10 more
doaj   +1 more source