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Publications by Alexandre Irrthum

Congenital Hereditary Lymphedema Caused by a Mutation That Inactivates VEGFR3 Tyrosine Kinase

American Journal of Human Genetics

English

Related publications

Familial Scaphocephaly Syndrome Caused by a Novel Mutation in the FGFR2 Tyrosine Kinase Domain

Journal of Medical Genetics

English

A Novel Mutation in CELSR1 Is Associated With Hereditary Lymphedema

Computer Networks

Developmental Neuroscience

English

Janus Kinase 3 Deficiency Caused by a Homozygous Synonymous Exonic Mutation That Creates a Dominant Splice Site

Journal of Allergy and Clinical Immunology

English

A GEF-to-phospholipase Molecular Switch Caused by Phosphatidic Acid, Rac and JAK Tyrosine Kinase That Explains Leukocyte Cell Migration

Journal of Cell Science

English

Congenital Dyserythropoietic Anemia Associated to a GATA1 Mutation Aggravated by Pyruvate Kinase Deficiency

Annals of Hematology

English

Two Siblings With Congenital Central Hypothyroidism Caused by a Novel Mutation in the IGSF1 Gene

Clinical Pediatric Endocrinology

English

Congenital Lymphedema in Two Siblings

Japanese journal of human genetics

English

Oxidative Stress Inactivates VEGF Survival Signaling in Retinal Endothelial Cells via PI 3-Kinase Tyrosine Nitration

Journal of Cell Science

English

Hereditary Amyloid Cardiomyopathy Caused by a Variant Apolipoprotein A1

American Journal of Pathology

Forensic Medicine

English