Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability-Reference-Cited by-同舟云学术

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Prenatal diagnosis of a 3.2-Mb 2p16.1-p15 duplication associated with familial intellectual disability

Published:2018-08 Issue:4 Volume:57 Page:578-582
ISSN:1028-4559
Container-title:Taiwanese Journal of Obstetrics and Gynecology
language:en
Short-container-title:Taiwanese Journal of Obstetrics and Gynecology

Author:

Chen Chih-Ping,Chern Schu-Rern,Wu Peih-Shan,Chen Shin-Wen,Lai Shih-Ting,Chuang Tzu-Yun,Chen Wen-Lin,Yang Chien-Wen,Wang Wayseen

Funder

Ministry of Science and Technology

MacKay Memorial Hospital, Taipei, Taiwan

Publisher

Elsevier BV

Subject

Obstetrics and Gynaecology

Reference45 articles.

1. Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1;Rajcan-Separovic;J Med Genet,2007

2. The facial dysmorphy in the newly recognised microdeletion 2p15-p16.1 refined to a 570 kb region in 2p15;Chabchoub;J Med Genet,2008

3. A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis;De Leeuw;J Med Genet,2008

4. A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion;Liang;J Med Genet,2009

5. Further characterization of microdeletion syndrome involving 2p15-p16.1;Félix;Am J Med Genet,2010

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1. Case Report: Identification of microduplication in the chromosomal 2p16.1p15 region in an infant suffering from pulmonary arterial hypertension;Frontiers in Cardiovascular Medicine;2023-10-23

2. Large Chromosome 2p Duplication-Associated Mechanisms and Clinical Presentations;Cytogenetic and Genome Research;2023

3. NeuroSCORE is a genome-wide omics-based model that identifies candidate disease genes of the central nervous system;Scientific Reports;2022-03-31

4. NeuroSCORE: A Genome-wide Omics-Based Model to Identify Candidate Disease Genes of the Central Nervous System;2021-02-06

5. Detection of submicroscopic chromosomal aberrations by chromosomal microarray analysis for the prenatal diagnosis of central nervous system abnormalities;Journal of Clinical Laboratory Analysis;2020-07-16

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