Novel Mutations Including Deletions of the EntireOFD1Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

(2012) Michael Field et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

(2012) Andrea Poretti et al.   Orphanet Journal of Rare Diseases

Cerebral dysgenesis does not exclude OFD I syndrome

(2011) Christel Thauvin-Robinet et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I)

(2010) Shilpa Chetty-John et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ofd1 is required in limb bud patterning and endochondral bone development

(2010) Sabrina Bimonte et al.   DEVELOPMENTAL BIOLOGY

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

(2010) Enza Maria Valente et al.   NATURE GENETICS

The role of primary cilia in neuronal function

(2010) Jeong Ho Lee et al.   NEUROBIOLOGY OF DISEASE

Functional modules, mutational load and human genetic disease

(2010) Norann A. Zaghloul et al.   TRENDS IN GENETICS

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

(2009) Karlien L.M. Coene et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Joubert syndrome with bilateral polymicrogyria: Clinical and neuropathological findings in two brothers

(2009) L. Giordano et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Are the oral-facial-digital syndromes ciliopathies?

(2009) Helga V. Toriello   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The molecular basis of oral-facial-digital syndrome, type 1

(2009) Marina Macca et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Centrioles, Centrosomes, and Cilia in Health and Disease

(2009) Erich A. Nigg et al.   CELL

Convergent extension movements and ciliary function are mediated by ofd1 , a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene

(2008) Maria I. Ferrante et al.   HUMAN MOLECULAR GENETICS

Genomic deletions ofOFD1account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing

(2008) Christel Thauvin-Robinet et al.   HUMAN MUTATION

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

(2008) Clelia Prattichizzo et al.   HUMAN MUTATION

Autosomal Dominant Polycystic Kidney Disease: Recent Advances in Pathogenesis and Treatment

(2007) Ming-Yang Chang et al.   NEPHRON PHYSIOLOGY