Results 41 to 50 of about 1,129,617 (326)
Human sex development: targeted technologies to improve diagnosis [PDF]
, 2016 A new study of disorders of sex development presents an improved targeted next-generation sequencing approach for their ...
Achermann, JC, Buonocore, F
core +3 more sources
Non-Syndromic 46,XY Disorders of Sex Development
Acta Medica Martiniana, 2018 Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group of disorders. We focus on the association between gene variants and the most frequent types of non-syndromic 46,XY DSD, options of molecular genetic ...
Gecz J, Breza J, Banovcin P
doaj +1 more source
Male Hypogonadism and Disorders of Sex Development
Frontiers in Endocrinology, 2020 Disorders of Sex Development (DSD) are congenital anomalies in which there is a discordance between chromosomal, genetic, gonadal, and/or internal/external genital sex.
Romina P. Grinspon +3 more
doaj +1 more source
Influence of sex differences on microRNA gene regulation in disease. [PDF]
, 2014 Sexual dimorphism is observed in most human diseases. The difference in the physiology and genetics between sexes can contribute tremendously to the disease prevalence, severity, and outcome.
Eghbali, Mansoureh, Sharma, Salil
core +1 more source
Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing
Orphanet Journal of Rare Diseases, 2021 Objective To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). Subjects and methods: Genomic DNA was extracted from a Chinese 46, XY DSD patient.
Bingqing Yu +5 more
doaj +1 more source
Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2020 Purpose Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes.
Yena Lee +8 more
doaj +1 more source
A questionnaire-based survey on hyperphagia in individuals with Prader–Willi syndrome in Japan
Endocrine JournalPrader–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 +9 more
doaj +1 more source
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 +3 more
doaj
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 +3 more
doaj +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 +2 more
core +1 more source