Update and audit of the St George’s classification algorithm of primary lymphatic anomalies: a clinical and molecular approach to diagnosis

Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome

(2019) Philip M. Boone et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Splice-site mutations in VEGFC cause loss of function and Nonne-Milroy-like primary lymphedema

(2018) E. Fastré et al.   CLINICAL GENETICS

A Novel Splice-Site Mutation in VEGFC Is Associated with Congenital Primary Lymphoedema of Gordon

(2018) Noeline Nadarajah et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Loss of ADAMTS3 activity causes Hennekam lymphangiectasia–lymphedema syndrome 3

(2017) Pascal Brouillard et al.   HUMAN MOLECULAR GENETICS

Lymphatic System in Cardiovascular Medicine

(2016) Aleksanteri Aspelund et al.   CIRCULATION RESEARCH

EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis

(2016) Silvia Martin-Almedina et al.   JOURNAL OF CLINICAL INVESTIGATION

Etiology of non-immune hydrops fetalis: An update

(2015) Carlo Bellini et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

(2015) Viktor Lukacs et al.   Nature Communications

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

(2015) Elisavet Fotiou et al.   Nature Communications

PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

(2014) Kim M. Keppler-Noreuil et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome

(2014) Mariëlle Alders et al.   HUMAN GENETICS

New developments in clinical aspects of lymphatic disease

(2014) Peter S. Mortimer et al.   JOURNAL OF CLINICAL INVESTIGATION

A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease

(2014) Emilia Balboa-Beltran et al.   JOURNAL OF MEDICAL GENETICS

Mutation in Vascular Endothelial Growth Factor-C, a Ligand for Vascular Endothelial Growth Factor Receptor-3, Is Associated With Autosomal Dominant Milroy-Like Primary Lymphedema

(2013) Kristiana Gordon et al.   CIRCULATION RESEARCH

The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings

(2013) FC Connell et al.   CLINICAL GENETICS

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

(2011) P. Ostergaard et al.   JOURNAL OF MEDICAL GENETICS

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

(2011) Pia Ostergaard et al.   NATURE GENETICS

GJC2 Missense Mutations Cause Human Lymphedema

(2010) Robert E. Ferrell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A new classification system for primary lymphatic dysplasias based on phenotype

(2010) F Connell et al.   CLINICAL GENETICS

HGF and MET Mutations in Primary and Secondary Lymphedema

(2009) David N. Finegold et al.   Lymphatic Research and Biology

A Human Papillomavirus–Associated Disease With Disseminated Warts, Depressed Cell-Mediated Immunity, Primary Lymphedema, and Anogenital Dysplasia

(2008) Alexander Kreuter   ARCHIVES OF DERMATOLOGY

Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas

(2008) F. C. Connell et al.   HUMAN GENETICS

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations

(2008) Nicole Revencu et al.   HUMAN MUTATION