Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

Kristien Hoornaert, Inge Vereecke, Chantal Dewinter, +50

European Journal of Human Genetics

Mendelian DisorderAutoimmune DiseaseGenetic DisorderGeneticsPathogenesis +9

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Sonja A. de Munnik, Louise S. Bicknell, Salim Aftimos, +29

European Journal of Human Genetics

Molecular DiagnosisMendelian DisorderGenetic DisorderMedicineGenetics +7

Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)

Liesbeth Rooms, Edwin Reyniers, Rob van Luijk, +6

Human Mutation

CytogeneticsNeurological DisorderGeneticsMolecular BiologyMolecular Genetics +20

A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands

Rick van Minkelen, Yolande van Bever, Joan N. R. Kromosoeto, +4

Clinical Genetics

Neurological DisorderDiagnosisPathologyDisease Gene IdentificationDermatology +18

<i>ACTG2</i>variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Danny Halim, Robert M.W. Hofstra, Luca Signorile, +16

Human Molecular Genetics

Developmental BiologyMolecular PhysiologyMedicineEnteric Smooth MusclePathogenesis +11

Waardenburg syndrome: Clinical differentiation between types I and II

Eliete Pardono, Yolande van Bever, Jenneke van den Ende, +7

American Journal of Medical Genetics Part A

Disease MechanismGenetic DisorderW IndexDifferential DiagnosisInherited Metabolic Disease +11

A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family

Jeroen Knijnenburg, Yolande van Bever, Lorette O. M. Hulsman, +5

European Journal of Human Genetics

Kb TriplicationOphthalmologyOculoplasticsPathologyThree-generation Family +3

Legius syndrome in fourteen families

Ellen Denayer, Magdalena Chmara, Hilde Brems, +19

Human Mutation

Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

Sonja A. de Munnik, Barto J. Otten, Jeroen Schoots, +33

American Journal of Medical Genetics Part A

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

Mariëlle Alders, Antonella Mendola, Lesley C. Adès, +21

Molecular Syndromology

GeneticsImmunologyDiagnosisPathologyGene Ccbe1 +16