Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene-Reference-Cited by-同舟云学术

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Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene

Published:2017-07 Issue:3 Volume:26 Page:148-153
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Bayat Allan,Kirchhoff Maria,Madsen Camilla G.,Roos Laura,Kreiborg Sven

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics(clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology, and Child Health

Reference15 articles.

1. Interstitial microdeletion of chromosome 1p in two siblings;Cambell;Am J Med Genet,2002

2. Chromosome 1p32–p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction;Chen;Taiwan J Obstet Gynecol,2011

3. Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum;Das Neves;Proc Natl Acad Sci USA,1999

4. Microdeletion of 1p32–p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects;Ji;Eur J Med Genet,2014

5. A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum;Koehler;Eur J Pediatr,2010

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1. Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders;Scientific Reports;2024-05-16

2. Prenatal diagnosis of non-typical Chiari malformation type I associated with de novo Nuclear Factor I A gene mutation: a case report;Journal of Medical Case Reports;2024-02-13

3. Microdeletion 1p32p31 Presenting with Moyamoya Disease and Incomplete Hippocampal Inversion;Molecular Syndromology;2024

4. NFIA haploinsufficiency: case series and literature review;Frontiers in Pediatrics;2023-10-17

5. Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature;Genes;2022-11-30

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