4.6 Article

Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss

Chen Zhao et al.

Summary: Exome sequencing showed clinical utility in identifying monogenic causes of pregnancy loss, detecting pathogenic variants and providing insights for genetic counseling and management of subsequent pregnancies. Detection rate increased by including variants of uncertain significance, with discovery of novel variants helping to understand molecular mechanisms leading to fetal death.

GENETICS IN MEDICINE (2021)

Article Biotechnology & Applied Microbiology

Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next-generation sequencing analysis

Xia Zhang et al.

Summary: This study aimed to explore the relationship between miscarriage and stillbirth with copy number variations (CNVs) by analyzing 659 fetal samples. Results showed 48.86% of cases had chromosomal abnormalities, with numerical abnormalities increasing with maternal age, and structural abnormalities differing significantly among age groups. Numerical chromosomal abnormalities also decreased with increasing gestational age of the fetuses.

JOURNAL OF GENE MEDICINE (2021)

Review Obstetrics & Gynecology

Potential genetic causes of miscarriage in euploid pregnancies: a systematic review

Emily Colley et al.

HUMAN REPRODUCTION UPDATE (2019)

Review Genetics & Heredity

Genetic diagnosis in first or second trimester pregnancy loss using exome sequencing: a systematic review of human essential genes

Sarah M. Robbins et al.

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2019)

Article Biochemistry & Molecular Biology

Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans

Charalambos Demetriou et al.

HUMAN MOLECULAR GENETICS (2019)

Article Medicine, General & Internal

Lethal multiple pterygium syndrome

Farzeen Shuaib Mohtisham et al.

BMJ CASE REPORTS (2019)

Article Multidisciplinary Sciences

High-throughput discovery of novel developmental phenotypes

Mary E. Dickinson et al.

NATURE (2016)

Article Genetics & Heredity

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

Jessica X. Chong et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2015)

Article Obstetrics & Gynecology

Molecular and Cytogenetic Analysis in Stillbirth: Results from 481 Consecutive Cases

Ellika Sahlin et al.

FETAL DIAGNOSIS AND THERAPY (2014)

Article Genetics & Heredity

Lifting the lid on unborn lethal Mendelian phenotypes through exome sequencing

Hanan E. Shamseldin et al.

GENETICS IN MEDICINE (2013)

Article Radiology, Nuclear Medicine & Medical Imaging

Prenatal Diagnosis of Lethal Multiple Pterygium Syndrome Using Two-and Three- Dimensional Ultrasonography

Fernanda Silveira Barros et al.

JOURNAL OF CLINICAL IMAGING SCIENCE (2012)

Article Genetics & Heredity

Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders

Anne Michalk et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Genetics & Heredity

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients

Julie Vogt et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2008)

Article Multidisciplinary Sciences

Structure and gating mechanism of the acetylcholine receptor pore

A Miyazawa et al.

NATURE (2003)