TY  - GEN
AU  - Huang,Lijia
AU  - Szymanska,Katarzyna
AU  - Jensen,Victor L
AU  - Janecke,Andreas R
AU  - Innes,A Micheil
AU  - Davis,Erica E
AU  - Frosk,Patrick
AU  - Li,Chunmei
AU  - Willer,Jason R
AU  - Chodirker,Bernard N
AU  - Greenberg,Cheryl R
AU  - McLeod,D Ross
AU  - Bernier,Francois P
AU  - Chudley,Albert E
AU  - Müller,Thomas
AU  - Shboul,Mohammad
AU  - Logan,Clare V
AU  - Loucks,Catrina M
AU  - Beaulieu,Chandree L
AU  - Bowie,Rachel V
AU  - Bell,Sandra M
AU  - Adkins,Jonathan
AU  - Zuniga,Freddi I
AU  - Ross,Kevin D
AU  - Wang,Jian
AU  - Ban,Matthew R
AU  - Becker,Christian
AU  - Nürnberg,Peter
AU  - Douglas,Stuart
AU  - Craft,Cheryl M
AU  - Akimenko,Marie-Andree
AU  - Hegele,Robert A
AU  - Ober,Carole
AU  - Utermann,Gerd
AU  - Bolz,Hanno J
AU  - Bulman,Dennis E
AU  - Katsanis,Nicholas
AU  - Blacque,Oliver E
AU  - Doherty,Dan
AU  - Parboosingh,Jillian S
AU  - Leroux,Michel R
AU  - Johnson,Colin A
AU  - Boycott,Kym M
TI  - TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
SN  - 1537-6605
PY  - 2012///0202
KW  - Abnormalities, Multiple
KW  - Adult
KW  - Animals
KW  - Bardet-Biedl Syndrome
KW  - genetics
KW  - Caenorhabditis elegans
KW  - Case-Control Studies
KW  - Cell Line
KW  - Cerebellar Diseases
KW  - Cerebellum
KW  - abnormalities
KW  - Child
KW  - Child, Preschool
KW  - Chromosome Mapping
KW  - Cilia
KW  - Eye Abnormalities
KW  - Female
KW  - Gene Expression
KW  - Gene Knockdown Techniques
KW  - Gene Knockout Techniques
KW  - Genetic Association Studies
KW  - Haplotypes
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Kidney Diseases, Cystic
KW  - Male
KW  - Membrane Proteins
KW  - Mice
KW  - Microscopy, Electron, Transmission
KW  - Multiprotein Complexes
KW  - metabolism
KW  - Mutation
KW  - Polymorphism, Single Nucleotide
KW  - Retina
KW  - Sequence Analysis, DNA
KW  - Wnt Proteins
KW  - Wnt Signaling Pathway
KW  - Zebrafish
KW  - embryology
N1  - Publication Type: Journal Article; Research Support, American Recovery and Reinvestment Act; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2011.11.005
ER  -