4.5 Article

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Related references

Note: Only part of the references are listed.
Article Gastroenterology & Hepatology

Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking

L. Braiterman et al.

AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY (2011)

Article Clinical Neurology

Exome Sequencing Allows for Rapid Gene Identification in a Charcot-Marie-Tooth Family

Gladys Montenegro et al.

ANNALS OF NEUROLOGY (2011)

Article Biochemistry & Molecular Biology

The Expanding Horizons of Asparagine-Linked Glycosylation

Angelyn Larkin et al.

BIOCHEMISTRY (2011)

Review Genetics & Heredity

Novel Genomic Techniques Open New Avenues in the Analysis of Monogenic Disorders

Gregor Kuhlenbaeumer et al.

HUMAN MUTATION (2011)

Editorial Material Endocrinology & Metabolism

How to find and diagnose a CDG due to defective N-glycosylation

Dirk J. Lefeber et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2011)

Review Clinical Neurology

Exome sequencing: a transformative technology

Andrew B. Singleton

LANCET NEUROLOGY (2011)

Article Genetics & Heredity

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Michael A. Simpson et al.

NATURE GENETICS (2011)

Review Genetics & Heredity

Exome sequencing as a tool for Mendelian disease gene discovery

Michael J. Bamshad et al.

NATURE REVIEWS GENETICS (2011)

Review Biotechnology & Applied Microbiology

Unlocking Mendelian disease using exome sequencing

Christian Gilissen et al.

GENOME BIOLOGY (2011)

Article Genetics & Heredity

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

Christian Gilissen et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Article Genetics & Heredity

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

Sarah B. Pierce et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Article Genetics & Heredity

Next-Generation Sequencing of a 40 Mb Linkage Interval Reveals TSPAN12 Mutations in Patients with Familial Exudative Vitreoretinopathy

Konstantinos Nikopoulos et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Article Genetics & Heredity

Congenital disorders of glycosylation

Jaak Jaeken

YEAR IN HUMAN AND MEDICAL GENETICS: NEW TRENDS IN MENDELIAN GENETICS (2010)

Article Genetics & Heredity

Exome sequencing identifies the cause of a mendelian disorder

Sarah B. Ng et al.

NATURE GENETICS (2010)

Article Genetics & Heredity

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Alexander Hoischen et al.

NATURE GENETICS (2010)

Article Genetics & Heredity

A de novo paradigm for mental retardation

Lisenka E. L. M. Vissers et al.

NATURE GENETICS (2010)

Article Endocrinology & Metabolism

Congenital disorder of glycosylation type Ix:: Review of clinical spectrum and diagnostic steps

E. Morava et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2008)

Article Genetics & Heredity

Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik

M Schwarz et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2004)