4.5 Article

De-novo germline second hit loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia

Related references

Note: Only part of the references are listed.
Review Peripheral Vascular Disease

Genetics of Primary Aldosteronism

Ute Scholl

Summary: Primary aldosteronism is the most common cause of secondary hypertension, largely due to genetic mutations in ion channels and pumps. Somatic mutations are responsible for sporadic cases, while germline mutations cause familial hyperaldosteronism.

HYPERTENSION (2022)

Article Genetics & Heredity

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period

Ori Eyal et al.

MOLECULAR GENETICS & GENOMIC MEDICINE (2019)

Article Genetics & Heredity

Multiple transmissions of de novo mutations in families

Hakon Jonsson et al.

NATURE GENETICS (2018)

Article Biochemistry & Molecular Biology

Progressive hereditary spastic paraplegia caused by a homozygous KY mutation

Yuval Yogev et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2017)

Article Genetics & Heredity

Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene

Janusz G. Zimowski et al.

JOURNAL OF HUMAN GENETICS (2017)

Article Ophthalmology

OVERVIEW OF THE COMPLICATIONS OF HIGH MYOPIA

Yasushi Ikuno

RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES (2017)

Article Genetics & Heredity

Clinical application of whole-exome sequencing across clinical indications

Kyle Retterer et al.

GENETICS IN MEDICINE (2016)

Letter Genetics & Heredity

De novo mutations in autosomal recessive congenital malformations

Holly A. Black et al.

GENETICS IN MEDICINE (2016)

Article Multidisciplinary Sciences

Large-scale discovery of novel genetic causes of developmental disorders

T. W. Fitzgerald et al.

NATURE (2015)

Article Medicine, General & Internal

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

Yaping Yang et al.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)

Article Genetics & Heredity

A de novo or germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling

Renata Voltolini Velho et al.

MOLECULAR GENETICS AND METABOLISM REPORTS (2014)

Article Biochemical Research Methods

DELLY: structural variant discovery by integrated paired-end and split-read analysis

Tobias Rausch et al.

BIOINFORMATICS (2012)

Review Pathology

Role of somatic mutations in vascular disease formation

Sarah M. Weakley et al.

EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2010)