TY  - JOUR
AU  - Astuti, Dewi
AU  - Sabir, Ataf
AU  - Fulton, Piers
AU  - Zatyka, Malgorzata
AU  - Williams, Denise
AU  - Hardy, Carol
AU  - Milan, Gabriella
AU  - Favaretto, Francesca
AU  - Yu-Wai-Man, Patrick
AU  - Rohayem, Julia
AU  - López de Heredia, Miguel
AU  - Hershey, Tamara
AU  - Tranebjaerg, Lisbeth
AU  - Chen, Jian-Hua
AU  - Chaussenot, Annabel
AU  - Nunes, Virginia
AU  - Marshall, Bess
AU  - McAfferty, Susan
AU  - Tillmann, Vallo
AU  - Maffei, Pietro
AU  - Paquis-Flucklinger, Veronique
AU  - Geberhiwot, Tarekign
AU  - Mlynarski, Wojciech
AU  - Parkinson, Kay
AU  - Picard, Virginie
AU  - Bueno, Gema Esteban
AU  - Dias, Renuka
AU  - Arnold, Amy
AU  - Richens, Caitlin
AU  - Paisey, Richard
AU  - Urano, Fumihiko
AU  - Semple, Robert
AU  - Sinnott, Richard
AU  - Barrett, Timothy G
PY  - 2017
DO  - 10.1002/humu.23233
UR  - http://hdl.handle.net/10668/11125
T2  - Human mutation
AB  - We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease-associated variants (December...
LA  - en
KW  - Alström syndrome
KW  - Monogenic diabetes
KW  - Thiamine-responsive megaloblastic anemia syndrome
KW  - Wolfram syndrome
KW  - genotype-phenotype analysis
KW  - locus-specific database
KW  - Adolescent
KW  - Adult
KW  - Anemia, Megaloblastic
KW  - Child
KW  - Child, Preschool
KW  - Databases, Genetic
KW  - Diabetes Mellitus
KW  - Exons
KW  - Family Health
KW  - Female
KW  - Genetic Association Studies
KW  - Genetic Variation
KW  - Genotype
KW  - Hearing Loss, Sensorineural
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Phenotype
KW  - Prognosis
KW  - Sensitivity and Specificity
KW  - Thiamine Deficiency
KW  - Wolfram Syndrome
KW  - Young Adult
TI  - Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
TY  - research article
VL  - 38
ER  -