CHARGE syndrome: the phenotypic spectrum of mutations in the <i>CHD7</i> gene

M.C.J. Jongmans, R.J.C. Admiraal, Kim P. van der Donk, +12

Journal of Medical Genetics

Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes

Mayada Tassabehji, Kay Metcalfe, Annette Karmiloff‐Smith, +7

The American Journal of Human Genetics

Down SyndromeMendelian DisorderGenetic DisorderGeneticsPhysical Phenotypes +5

Proteus syndrome: An expanded phenotype

Robin D. Clark, D Donnai, John Rogers, +4

American Journal of Medical Genetics

Hypomelanosis of Ito: a manifestation of mosaicism or chimerism.

D Donnai, Andrew Read, C McKeown, +1

Journal of Medical Genetics

ChromatinX InactivationChromosome DynamicsDna FingerprintsMendelian Disorder +11

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy

Helen Stewart, Graeme C. Black, D Donnai, +5

Ophthalmology

Lattice Corneal DystrophyMendelian DisorderOphthalmologyCorneal DystrophyGenetic Disorder +5

Multiple pterygium syndrome: evolution of the phenotype.

Elizabeth M. Thompson, D Donnai, M Baraitser, +3

Journal of Medical Genetics

Multiple Skin WebsDevelopmental AnomalyThumb HypoplasiaMendelian DisorderGenetic Disorder +11

Chromosome Anomalies and Prenatal Development: An Atlas

D Donnai

Journal of Medical Genetics

Developmental AnomalyChromatinChromosome AnomaliesDevelopmental BiologyCytogenetics +6

The expression of CD18 is increased on Trisomy 21 (Down syndrome) lymphoblastoid cells.

G M Taylor, Amanda L. Williams, S.W. D’Souza, +4

PubMed

Down SyndromeImmunogeneticsDevelopmental BiologyAutoimmune DiseaseLymphocyte Development +12

Thanatophoric dysplasia of the straight-bone type (type 2)

Andrew Norman, S. Rimmer, Sara Landy, +1

Clinical Dysmorphology

Thanatophoric DysplasiaCommon Type 1Gross AnatomyBone DiseaseDistraction Osteogenesis +6

Association of autosomal dominant cleft lip and palate and translocation 6p23;9q22.3

D Donnai, Lisa Heather, PB Sinclair, +3

Clinical Dysmorphology

GeneticsMolecular GeneticsEpigeneticsCraniofacial AnomaliesCraniofacial Development +15