Results 41 to 50 of about 282,756 (243)
Mosaicism in Tuberous Sclerosis Complex
Pediatric Neurology Briefs, 1999 Six families with mosaicism in a series of 62 unrelated families with a mutation in one of the two tuberous sclerosis complex (TSC) genes, TSC1 or TSC2, are reported from the Erasmus University and Hospital, Rotterdam, The Netherlands.
J Gordon Millichap
doaj +1 more source
Acta Dermato-Venereologica, 2023 is missing (Short communication)
Hiroshi Koga +6 more
doaj +1 more source
Gonadal dysgenesis and tumors: genetic and clinical features [PDF]
, 2005 Gonadal dysgenesis comprises a clinical spectrum of anomalies in patients with female, ambiguous or male phenotype, absent or impaired puberty and karyotype with or without Y chromosome and/or chromosome markers.
Bianco, Bianca Alves Vieira +2 more
core +3 more sources
The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center
Journal of the Formosan Medical Association, 2019 Background/Purpose: 45,X/46,XY mosaicism is a rare sex chromosome abnormality. Here, we present our experience in the management of 45,X/46,XY Taiwanese children. Patients and Methods: We enrolled 19 patients from January 1981 to September 2016.
Yen-Chun Huang +6 more
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Mixed gonadal dysgenesis in 45,X Turner syndrome with gene [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2015 Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male.
Jae Yeop Jung +6 more
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A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs [PDF]
, 2012 BACKGROUND: About 9% of the offspring of a clinically healthy Piétrain boar named ‘Campus’ showed a progressive postural tremor called Campus syndrome (CPS).
Barbara Harlizius +3 more
core +2 more sources
Sex assignment in conditions affecting sex development [PDF]
, 2017 The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of
Ahmed, S. Faisal, Markosyan, Renata
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O espectro das falências ovarianas ligadas ao cromossomo X [PDF]
, 2001 Clinically ovarian failure is presented by primary or secondary amenorrhea and high levels of pituitary gonadotropins mainly FSH. Monossomy or X-chromosome rearrangements are among a variable number of suggested etiopathogenic factors of ovarian failure ...
Hassum Filho, Péricles A. +2 more
core +3 more sources
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis [PDF]
, 2016 Schwannomatosis is characterized by the predisposition to develop multiple schwannomas and, less commonly, meningiomas. Despite the clinical overlap with neurofibromatosis type 2 (NF2), schwannomatosis is not caused by germline NF2 gene mutations ...
Cooper, David Neil +3 more
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X/XYq - mosaicism and mixed gonadal dysgenesis. [PDF]
Journal of Medical Genetics, 1977 A non-fluorescent Y chromosome was observed in a phenotypic male with 45,X/46,XYq-mosaicism and mixed gonadal dysgenesis. Q-banding of the father's chromosomes showed a normally fluorescent Y. Measurements of the Y chromosomes in the father and the patient showed a significant difference in length.
E, Yunis +3 more
openaire +2 more sources