Results 21 to 30 of about 3,493 (177)
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
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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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Acta Dermato-Venereologica, 2023 is missing (Short communication)
Hiroshi Koga +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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Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism
BMC Pediatrics, 2019 Background The aim of this study was to review the growth data, gonadal function and tumour risk of children and adolescents with 45,X/46,XY mosaicism who presented to a single centre in China.
Lili Pan +7 more
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MRKH syndrome and Turner syndrome co-existing in a patient with primary amenorrhoea
Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2020 Mayer-Rokitansky-Haüser-Kuster (MRHK) or Mullerian agenesis syndrome is characterized by aplasia or hypoplasia of uterus and upper 2/3 of the vagina. Patients usually have normal gonadal function as both ovaries develop from different embryonic sources ...
Mohammad Moin Shahid
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Advanced Science, EarlyView.A three‐tier livestock multi‐omics framework resolves four typical analytical pitfalls. Moving from statistical association through machine learning preprocessing to triple‐modal causal inference, it converts omics results into genomic selection and gene editing strategies to achieve One Health, underpinned by multi‐omics data, multimodal sequencing ...
Jiying Wen +5 more
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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
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Mixed gonadal dysgenesis in Yaoundé: A preliminary experience about three cases
African Journal of Paediatric Surgery, 2016 Mixed gonadal dysgenesis is characterised by unilateral chromosomal abnormality, which is probably the result of anaphase lag during mitosis. The 45, XO/46, XY karyotype is the most common form of mosaicism involving the Y chromosome.
F F Mouafo Tambo +7 more
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#332 : A Rare Case Report of Mixed Gonadal Dysgenesis with MOS 46, XY, 47,XY+21, 45,X Karyotype
Fertility & Reproduction, 2023 Background and Aims: Mixed gonadal dysgenesis is a condition of unusual and asymmetrical gonadal development leading to an unassigned sex differentiation. A number of differences have been reported in the karyotype, most commonly a mosaicism 45, X/46, XY.
Meycha Dafhonsa +2 more
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