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Cc2D2A Is Mutated In Joubert Syndrome And Interacts With The Ciliopathy-Associated Basal Body Protein Cep290
(Cell Press, 2008)
Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-hindbrain malformation. ...
Evaluation Of Prenatal-Onset Osteochondrodysplasias By Ultrasonography: A Retrospective And Prospective Analysis
(Wiley-Liss, 2008)
The osteochondrodysplasia or skeletal dysplasias are a heterogenous group of over 350 distinct disorders of skeletogenesis. Many manifest in the prenatal diagnosis. A retrospective analysis evaluated 1,500 cases referred ...
Gross Deletions Involving Ighm, Btk, Or Artemis: A Model For Genomic Lesions Mediated By Transposable Elements
(Cell Press, 2008)
Most genetic disruptions underlying human disease are microlesions, whereas gross lesions are rare with gross deletions being most frequently found (6%). Similar observations have been made in primary immunodeficiency ...
Human Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia Due To Tnfrsf11A (Rank) Mutations
(Cell Press, 2008)
Autosomal-Recessive Osteopetrosis (ARO) comprises a heterogeneous group of bone diseases for which mutations in five genes are known as causative. Most ARO are classified as osteoclast-rich, but recently a subset of ...
Identification Of A Founder Mutation In Tpm3 In Nemaline Myopathy Patients Of Turkish Origin
(Nature Publishing Group, 2008)
To date, six genes are known to cause nemaline (rod) myopathy (NM), a rare congenital neuromuscular disorder. In an attempt to find a seventh gene, we performed linkage and subsequent sequence analyses in 12 Turkish families ...
Tbx15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome
(Cell Press, 2008)
Members of the evolutionarily conserved T-box family of transcription factors are important players in developmental processes that include mesoderm formation and patterning and organogenesis both in vertebrates and ...
Molecular Cytogenetic Analysis And Resequencing Of Contactin Associated Protein-Like 2 In Autism Spectrum Disorders
(Cell Press, 2008)
Autism spectrum disorders (ASD) are a group of related neurodevelopmental syndromes with complex genetic etiology.(1) We identified a de novo chromosome 7q inversion disrupting Autism susceptibility candidate 2 (AUTS2) and ...