Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients

Mutations in ANTXR1 Cause GAPO Syndrome

(2013) Viktor Stránecký et al.   AMERICAN JOURNAL OF HUMAN GENETICS

WDR19: An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome

(2013) R G Coussa et al.   CLINICAL GENETICS

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy

(2013) Jan Halbritter et al.   HUMAN GENETICS

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

(2013) Geneviève Baujat et al.   JOURNAL OF MEDICAL GENETICS

Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations

(2012) Isabelle Perrault et al.   AMERICAN JOURNAL OF HUMAN GENETICS

WDR35mutation in siblings with Sensenbrenner syndrome: A ciliopathy with variable phenotype

(2012) Carlos A. Bacino et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ciliary disorder of the skeleton

(2012) Celine Huber et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

NovelWDR35mutations in patients with cranioectodermal dysplasia (Sensenbrenner syndrome)

(2012) JL Hoffer et al.   CLINICAL GENETICS

Severe aortic stenosis, bicuspid aortic valve and atrial septal defect in a child with Joubert Syndrome and Related Disorders (JSRD) – A case report and review of congenital heart defects reported in the human ciliopathies

(2012) Natalya Karp et al.   European Journal of Medical Genetics

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

(2011) Cecilie Bredrup et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)

(2011) Kim M. Keppler-Noreuil et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

(2011) H. H. Arts et al.   JOURNAL OF MEDICAL GENETICS

Ciliopathies

(2011) Friedhelm Hildebrandt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ellis–van Creveld Syndrome and Congenital Heart Defects: Presentation of an Additional 32 Cases

(2011) Christine B. Hills et al.   PEDIATRIC CARDIOLOGY

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

(2010) Christian Gilissen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cranioectodermal Dysplasia, Sensenbrenner Syndrome, Is a Ciliopathy Caused by Mutations in the IFT122 Gene

(2010) Joanna Walczak-Sztulpa et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Connective tissue involvement in two patients with features of cranioectodermal dysplasia

(2009) Andrew E. Fry et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cranioectodermal dysplasia: A probable ciliopathy

(2009) Anastasia E. Konstantinidou et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

GAPO syndrome with the novel features of pulmonary hypertension, ankyloglossia, and prognathism

(2009) Elif F. Demirgüneş et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Liver and kidney disease in ciliopathies

(2009) Meral Gunay-Aygun   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Making sense of cilia in disease: The human ciliopathies

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