Related references
Note: Only part of the references are listed.TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone
Elle C. Roberson et al.
JOURNAL OF CELL BIOLOGY (2015)
Understanding disease pleiotropy: From puzzle to solution
Jean-Michel Rozet et al.
SCIENCE TRANSLATIONAL MEDICINE (2015)
Mutations in TMEM231 cause Meckel-Gruber syndrome
Ranad Shaheen et al.
JOURNAL OF MEDICAL GENETICS (2013)
Mutations Arising During Repair of Chromosome Breaks
Anna Malkova et al.
ANNUAL REVIEW OF GENETICS, VOL 46 (2012)
The ciliopathies: a transitional model into systems biology of human genetic disease
Erica E. Davis et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2012)
The NIH Undiagnosed Diseases Program: bonding scientists and clinicians
William A. Gahl et al.
DISEASE MODELS & MECHANISMS (2012)
Mutations in TMEM231 cause Joubert syndrome in French Canadians
Myriam Srour et al.
JOURNAL OF MEDICAL GENETICS (2012)
Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy
Terren K. Niethamer et al.
MOLECULAR GENETICS AND METABOLISM (2012)
A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain
Ben Chih et al.
NATURE CELL BIOLOGY (2012)
Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers
Maha S. Zaki et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
The NIH Undiagnosed Diseases Program Lessons Learned
William A. Gahl et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2011)
Patients with Bardet-Biedl Syndrome Have Hyperleptinemia Suggestive of Leptin Resistance
Penelope P. Feuillan et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)
BBS10 mutations are common in 'Meckel'-type cystic kidneys
Audrey Putoux et al.
JOURNAL OF MEDICAL GENETICS (2010)
The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine
Leslie G. Biesecker et al.
GENOME RESEARCH (2009)
Recent advances in the molecular pathology, cell biology and genetics of ciliopathies
M. Adams et al.
JOURNAL OF MEDICAL GENETICS (2008)
Gene conversion: mechanisms, evolution and human disease
Jian-Min Chen et al.
NATURE REVIEWS GENETICS (2007)
Joubert syndrome (and related disorders) (OMIM 213300)
Melissa A. Parisi et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Share Paper
