A review of genetic factors underlying craniorachischisis and omphalocele: Inspired by a unique trisomy 18 case-Reference-Cited by-同舟云学术

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A review of genetic factors underlying craniorachischisis and omphalocele: Inspired by a unique trisomy 18 case

Published:2019-06-11 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Tobin Michael¹^ORCID,Gunaji Rajesh²,Walsh John C.³,Grice Guerard P.⁴

Affiliation:

1. CPT, Medical Corps, US Army, PGY‐1 Emergency Medicine ResidentMadigan Army Medical Center, Joint Base Lewis‐McChord Washington

2. LT, Medical Corps, US NavyF. Edward Hébert School of Medicine, Class of 2019, Uniformed Services University of the Health Sciences Bethesda MD

3. Laboratory DepartmentLCDR, Medical Corps (FS), US Navy, PGY‐5 Pathology Resident, Naval Medical Center San Diego California

4. Laboratory DepartmentCAPT (Ret.), Medical Corps, US Navy, Naval Medical Center San Diego California

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61255

Reference69 articles.

1. Invasive prenatal testing for aneuploidy. ACOG practice bulletin no. 88;ACOG;Obstetrics and Gynecology,2007

2. Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis;Allache R.;Birth Defects Research Part A: Clinical and Molecular Teratology,2012

3. Chromosome‐selective sequencing of maternal plasma cell‐free DNA for first‐trimester detection of trisomy 21 and trisomy 18;Ashoor G.;American Journal of Obstetrics and Gynecology,2012

4. Co‐occurrence of neural tube defect, thoracal defect and Omphalocele: A rare case and review of the literature;Aydin B. H.;Genetic Counseling,2015

5. Neural tube defects and folate: Case far from closed;Blom H. J.;Nature Reviews: Neuroscience,2006

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1. Craniorachischisis in a stillbirth associated with maternal smoking;Taiwanese Journal of Obstetrics and Gynecology;2024-01

2. Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele;Case Reports in Genetics;2023-02-25

3. The role of Lrp6-mediated Wnt/β-catenin signaling in the development and intervention of spinal neural tube defects in mice;Disease Models & Mechanisms;2022-06-01

4. Prenatal diagnosis of acrania/exencephaly/anencephaly sequence (AEAS): additional structural and genetic anomalies;Archives of Gynecology and Obstetrics;2022-05-12

5. Single-Cell Transcriptomics of Cultured Amniotic Fluid Cells Reveals Complex Gene Expression Alterations in Human Fetuses With Trisomy 18;Frontiers in Cell and Developmental Biology;2022-03-22

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