Results 61 to 70 of about 990,174 (349)

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

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

A guide to differences/disorders of sex development/intersex in children and adolescents.

Australian Journal of General Practice, 2020
BACKGROUND Differences/disorders of sex development (DSD) or 'intersex' encompass a broad range of congenital variations in the complex pathways involved in the development of sex characteristics.
Komal A Vora, S. Srinivasan
semanticscholar   +1 more source

Genome-wide identification of CBX2 targets: insights in the human sex development network [PDF]

, 2015
CBX2 (Chromobox homolog 2) is a chromatin modifier that plays an important role in sexual development and its disorders (disorders of sex development, DSD), yet the exact rank and function of human CBX2 in this pathway remains unclear. Here, we performed
Biason-Lauber, Anna, Eid, Wassim, Opitz, Lennart   +2 more
core   +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

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

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

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

Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development)

International Journal of Molecular Sciences, 2020
The gonads are unique among the body’s organs in having a developmental choice: testis or ovary formation. Gonadal sex differentiation involves common progenitor cells that form either Sertoli and Leydig cells in the testis or granulosa and thecal cells ...
M. Estermann, C. Smith
semanticscholar   +1 more source

Tonic signaling of the B‐cell antigen‐specific receptor is a common functional hallmark in chronic lymphocytic leukemia cell phosphoproteomes at early disease stages

Molecular Oncology, EarlyView.
B‐cell chronic lymphocytic leukemia (B‐CLL) and monoclonal B‐cell lymphocytosis (MBL) show altered proteomes and phosphoproteomes, analyzed using mass spectrometry, protein microarrays, and western blotting. Identifying 2970 proteins and 316 phosphoproteins, including 55 novel phosphopeptides, we reveal BCR and NF‐kβ/STAT3 signaling in disease ...
Paula Díez, Pablo Juanes‐Velasco, Marina L. García‐Vaquero, Conrad Droste, Alicia Landeira‐Viñuela, Miguel Alcoceba, Helena Fidalgo‐Gómez, Sara Misiego‐Herrero, Almudena Navarro‐Bailón, Mónica Baile, José M. Bastida, Jose Manuel Sanchez‐Santos, Rafael Góngora, Julia Almeida, Marcos Gonzalez‐Diaz, Alberto Orfao, Javier De Las Rivas, Manuel Fuentes   +17 more
wiley   +1 more source