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5 articles related to "Heterodisomy"

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Articles

Original Research

Published on 16 Dec 2024

Heterodisomy in the GNAS locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3)

in Pediatric Endocrinology

Africa Manero-Azua
Yerai Vado
Judith Gonzàlez Morlà
Eduard Mogas
Arrate Pereda
Guiomar Perez de Nanclares

Frontiers in Endocrinology

doi 10.3389/fendo.2024.1505244

2,148 views
1 citation

Original Research

Published on 11 May 2021

A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics

in Genomic Assay Technology

Samuel P. Strom
Waheeda A. Hossain
Melina Grigorian
Mickey Li
Joseph Fierro
William Scaringe
Hai-Yun Yen
Mirandy Teguh
Joanna Liu
Harry Gao

Frontiers in Genetics

doi 10.3389/fgene.2021.608889

9,163 views
29 citations

Case Report

Published on 22 Oct 2021

Case Report: Paternal Uniparental Isodisomy and Heterodisomy of Chromosome 16 With a Normal Phenotype

in Pediatric Neurology

Xu Zhang
Li Liu
Yang Liu
Xin Pan

Frontiers in Pediatrics

doi 10.3389/fped.2021.732645

7,944 views
1 citation

Brief Research Report

Published on 10 Aug 2023

Co-occurrence of Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type 1B: coincidence or common molecular mechanism?

in Developmental Epigenetics

Laura Pignata
Francesco Cecere
Fabio Acquaviva
Emilia D’Angelo
Daniela Cioffi
Valeria Pellino
Orazio Palumbo
Pietro Palumbo
Massimo Carella
Angela Sparago

Frontiers in Cell and Developmental Biology

doi 10.3389/fcell.2023.1237629

3,682 views
10 citations

Case Report

Published on 18 Nov 2022

Case Report: Precision genetic diagnosis in a case of Dyggve-Melchior-Clausen syndrome reveals paternal isodisomy and heterodisomy of chromosome 18 with imprinting clinical implications

in Genetics of Common and Rare Diseases

María-Pilar López-Garrido
María-Carmen Carrascosa-Romero
Minerva Montero-Hernández
Caridad-María Serrano-Martínez
Francisco Sánchez-Sánchez

Frontiers in Genetics

doi 10.3389/fgene.2022.1005573

3,560 views
5 citations