Results 61 to 70 of about 2,220,873 (330)
Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa +23 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello +10 more
wiley +1 more source
Iatrogenic chimerism in a patient with Fanconi anemia and delayed puberty
Гинекология, 2020 The article presents a clinical case of delayed puberty in a 13-year-old girl with Fanconi anemia who was sent to the Department of gynecology of children and adolescents for removal of the sexual glands due to the detection of a Y-chromosome in the ...
Zaira Kh. Kumykova +3 more
doaj +1 more source
Early onset of puberty in an obese boy with Klinefelter syndrome [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2016 Klinefelter syndrome (KS) is one of the most common disease entities characterized by X-chromosomal aberration causing the primary hypogonadism in adult men. Patients with KS seem to be typically characterized by tall, slender bodies with delayed puberty
Byoung-Wook Cho +5 more
doaj +1 more source
Genetic architecture of self-limited delayed puberty and congenital hypogonadotropic hypogonadism
Frontiers in Endocrinology, 2023 Distinguishing between self limited delayed puberty (SLDP) and congenital hypogonadotropic hypogonadism (CHH) may be tricky as they share clinical and biochemical characteristics. and appear to lie within the same clinical spectrum.
Valeria Vezzoli +11 more
doaj +1 more source
Growth, puberty, and bone health in children and adolescents with inflammatory bowel disease
BMC Pediatrics, 2021 Background Endocrine complications such as impaired growth, delayed puberty, and low bone mineral density (BMD) can be associated with inflammatory bowel disease (IBD) in children and adolescents.
H. Jin +7 more
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 more
wiley +1 more source
Genetic and Epigenetic Control of Puberty
Sexual Development, 2021 Puberty is a complex transitional phase in which reproductive capacity is achieved. There is a very wide variation in the age range of the onset of puberty, which follows a familial, ethnic, and sex pattern.
M. Manotas +4 more
semanticscholar +1 more source
Not Judging by Appearances: The Role of Genotype in Jewish Law on Intersex Conditions [PDF]
, 2012 Jewish communities have always had children with intersex conditions, which involve atypical anatomic, chromosomal, or gonadal sex. In the last several decades, Orthodox rabbis have issued ad hoc rulings to assign sex to children and adults with intersex
Hillel Gray
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli +11 more
wiley +1 more source