Identification of the gene that, when mutated, causes the human obesity syndrome BBS4

Kirk Mykytyn, Terry A. Braun, Rivka Carmi, +16

Nature Genetics

ObesityMetabolic SyndromeMetabolic DisorderGenetic DisorderGenetics +6

Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1)

Kirk Mykytyn, Darryl Nishimura, Charles Searby, +18

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderMedicineGeneticsLinkage Analysis +6

Linkage Mapping in 29 Bardet–Biedl Syndrome Families Confirms Loci in Chromosomal Regions 11q13, 15q22.3–q23, and 16q21

Elspeth A. Bruford, Ruth Riise, Peter Teague, +12

Genomics

Chromosome DynamicsLinkage MappingChromosomal Regions 11Q13Genetic DisorderGenetics +8

In Vivo Morphology of the Limbal Palisades of Vogt Correlates With Progressive Stem Cell Deficiency in Aniridia-Related Keratopathy

Neil Lagali, Tor Paaske Utheim, Xiangjun Chen, +3

Investigative Ophthalmology & Visual Science

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger, +34

The American Journal of Human Genetics

Incidence of registered visual impairment in the Nordic child population.

Thomas Rosenberg, T Flage, Esben Søvsø Szocska Hansen, +4

British Journal of Ophthalmology

Prospective Register StudyPopulation ChildrenOcular DiseaseBlindsightOphthalmology +12

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

Ruth Riise, Sten Andréasson, M. Borgström, +4

British Journal of Ophthalmology

Visual impairment in Nordic children

Ruth Riise, T Flage, Esben Søvsø Szocska Hansen, +4

Acta Ophthalmologica

Bardet-Biedl syndrome in Denmark-report of 13 novel sequence variations in six genes

Tina Duelund Hjortshøj, Karen Grønskov, Alisdair R. Philp, +5

Human Mutation

Novel Sequence VariationsComplex Trait GeneticsQuantitative GeneticsMendelian DisorderGenetic Disorder +12

Epidemiology of aniridia in Sweden and Norway

David Iggman, Ruth Riise, Kristina Törnqvist

Acta Ophthalmologica