Results 221 to 230 of about 282,756 (243)

High Rate of Mosaicism in Tuberous Sclerosis Complex

American Journal of Human Genetics, 1999
Sergiusz Jozwiak, Dick Lindhout
exaly  

Gonadal Pathology and Tumor Risk in Relation to Clinical Characteristics in Patients with 45,X/46,XY Mosaicism

Journal of Clinical Endocrinology and Metabolism, 2011
Piet Hoebeke, Leendert H J Looijenga
exaly  

The Mosaicism Ratio of 45,X May Explain the Phenotype in a Case of Mixed Gonadal Dysgenesis

Sexual Development, 2018
Megumi Hatano, R. Fukuzawa, Y. Hasegawa
semanticscholar   +1 more source

A genomic view of mosaicism and human disease

Nature Reviews Genetics, 2013
Leslie G Biesecker, Nancy B Spinner
exaly  

Genetic anomalies consistent with gonadal mosaicism encountered in a sexual assault-homicide.

Forensic Science International: Genetics, 2012
G. Shutler, T. Roy
semanticscholar   +1 more source

Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm

Nature Genetics, 1994
Shelin Adam, Lorne A Clarke, Michael R Hayden   +2 more
exaly  

Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation

Journal of Maternal-Fetal & Neonatal Medicine, 2011
J. Weichert, A. Schröer, D. Beyer, G. Gillessen‐Kaesbach, I. Stefanova   +4 more
semanticscholar   +1 more source

Effects of cancer chemotherapy on gonadal function and reproductive capacity

Ca-A Cancer Journal for Clinicians, 1990
exaly  

Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array‐based comparative genomic hybridization

American Journal of Medical Genetics. Part A, 2011
Aguinaldo Bonalumi Filho, J. Souza, F. Faucz, V. Sotomaior, B. Dupont, F. Bartel, Reycel Rodriguez, C. Schwartz, C. Skinner, Sarah Alliman, S. Raskin   +10 more
semanticscholar   +1 more source

Familial syringomas: an example of gonadal mosaicism.

Cutis, 2002
K J, Smith, H G, Skelton
openaire   +1 more source