Results 61 to 70 of about 282,756 (243)
Clinical сase of disorder of sex development with karyotype 47XYY
Медицинский вестник Юга России, 2023 Disorder of sex development (DSD) is a term used to refer to congenital disorders that led to atypical structure of the genitals. The cause of DSD is a disorder of the embryonic development of the reproductive system due to chromosomal, genetic pathology
M. R. Shaydullina +4 more
doaj +1 more source
A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism [PDF]
, 2014 Here we analyze the genetic and molecular basis responsible for a very benign phenotype observed in an NF1 patient. Quantification of cells carrying the NF1 mutation in different samples derived from the three embryonic layers revealed mosaicism ...
Benavente, Yolanda +7 more
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi +11 more
wiley +1 more source
Swyer syndrome: The gender swayer?
Alexandria Journal of Medicine, 2017 46XY complete gonadal dysgenesis (SWYER SYNDROME) is a rare type of Disorder of Sex Development. Herein we report a 15 years-old child, reared as female, presented with complaints of primary amenorrhoea, without short stature or Turner’s stigmata ...
Jaideep Khare +3 more
doaj +1 more source
Reproductive Issues in Women with Turner Syndrome [PDF]
, 2015 Turner syndrome is one of the most common chromosomal abnormalities affecting female infants. The severity of clinical manifestations varies and it affects multiple organ systems.
Folsom, Lisal J., Fuqua, John S.
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman +15 more
wiley +1 more source
The Anatomical Record, EarlyView.Abstract Neuroanatomical research has progressed considerably in several vertebrate lineages, yet studies of reptilian brain morphology remain markedly underdeveloped. Here we provide the first description of macroscopic brain anatomy and its ontogeny in the viperid Bothrops moojeni, based on a sample of seven individuals.
Paula Araújo +2 more
wiley +1 more source
Turner syndrome masquerading as normal early puberty [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2014 Approximately 50% of patients with Turner syndrome (TS) have complete loss of one X chromosome, whereas the rest of the patients with TS display mosaicism or structural abnormalities of the X chromosome.
Yong Hee Hong, Young Lim Shin
doaj +1 more source
Management of infertility in a patient presenting with ovarian dysfunction and McCune-Albright syndrome [PDF]
, 2004 Persistent autonomous ovarian dysfunction in McCune-Albright syndrome (MAS) patients is associated with the development of multiple dominant follicles, premature luteinization, cyst formation, and anovulatory infertility.
Fauser, B.C.J.M. (Bart) +3 more
core +3 more sources
Modern competency‐based teaching of human sexual development
Anatomical Sciences Education, EarlyView.Abstract Embryology is an integral part of anatomy and a key subject in basic medical education. The development of the sexual tract, which is closely associated with the formation of the urinary tract and the organs of continence, is particularly complex and relevant for many medical disciplines.
Elisabeth Eppler +2 more
wiley +1 more source