Maternal UPD(14) in the patient with a normal karyotype: Clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference16 articles.
1. Growth Hormone and Prolactin Stimulate the Expression of Rat Preadipocyte Factor-1/Δ-Like Protein in Pancreatic Islets: Molecular Cloning and Expression Pattern during Development and Growth of the Endocrine Pancreas*
2. Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD(20) in a cohort of growth retarded patients
3. Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty
4. Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting.
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1. Temple Syndrome: Clinical Findings, Body Composition and Cognition in 15 Patients;Journal of Clinical Medicine;2022-10-25
2. Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China;Orphanet Journal of Rare Diseases;2022-06-13
3. Prenatal diagnosis and molecular cytogenetic characterization of a familial small supernumerary marker chromosome derived from the acrocentric chromosome 14/22;Taiwanese Journal of Obstetrics and Gynecology;2022-03
4. The Spectrum of the Prader–Willi-like Pheno- and Genotype: A Review of the Literature;Endocrine Reviews;2021-08-30
5. Temple syndrome resulting from uniparental disomy is undiagnosed by a methylation assay due to low‐level mosaicism for trisomy 14;American Journal of Medical Genetics Part A;2021-02-17
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