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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 ...
Homozygous Inactivating Mutations In The Nkx3-2 Gene Result In Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
(Cell Press, 2009)
Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is a rare skeletal dysplasia with only a few cases reported in the literature. Affected individuals have a disproportionate short stature with a short and stiff neck and ...
Familial Mediterranean Fever In The 'Chuetas' Of Mallorca: A Question Of Jewish Origin Or Genetic Heterogeneity
(Nature Publishing Group, 2000)
Familial Mediterranean fever (FMF) is a hereditary disease commonly found among Jews, Armenians, Turks and Arabs. Recently, FMF was found in the 'Chuetas', a unique community on the island of Mallorca (Spain). To address ...
Escobar Syndrome Is A Prenatal Myasthenia Caused By Disruption Of The Acetylcholine Receptor Fetal Gamma Subunit
(Univ Chicago Press, 2006)
Escobar syndrome is a form of arthrogryposis multiplex congenita and features joint contractures, pterygia, and respiratory distress. Similar findings occur in newborns exposed to nicotinergic acetylcholine receptor (AChR) ...
Giant Axonal Neuropathy Locus Refinement To A < 590 Kb Critical Interval
(Nature Publishing Group, 2000)
Giant axonal neuropathy (GAN) is a rare autosomal recessive neurodegenerative disorder, characterised clinically by the development of chronic distal polyneuropathy during childhood, mental retardation, kinky or curly hair, ...
Identification Of Cant1 Mutations In Desbuquois Dysplasia
(Cell Press, 2009)
Desbuquois dysplasia is a severe condition characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. Studying nine Desbuquois families, we identified seven distinct ...
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 ...
Risk Assessment and Communication Tools For Genotype Associations With Multifactorial Phenotypes: The Concept of "Edge Effect" And Cultivating an Ethical Bridge Between Omics Innovations and Society
(Mary Ann Liebert, Inc, 2009)
Applications of omics technologies in the postgenomics era swiftly expanded from rare monogenic disorders to multifactorial common complex diseases, pharmacogenomics, and personalized medicine. Already, there are signposts ...
Genome Scan Meta-Analysis of Schizophrenia and Bipolar Disorder, Part III: Bipolar Disorder
(Cell Press, 2003)
Genome scans of bipolar disorder (BPD) have not produced consistent evidence for linkage. The rank-based genome scan meta-analysis (GSMA) method was applied to 18 BPD genome scan data sets in an effort to identify regions ...
Dach: Genomic Characterization, Evaluation As A Candidate For Postaxial Polydactyly Type A2, And Developmental Expression Pattern Of The Mouse Homologue
(Academic Press Inc, 2001)
The gene DACH is a human homologue of Drosophila melanogaster dachshund (dac), which encodes a nuclear factor essential for determining cell fates in the eye, leg, and nervous system of the fly. To investigate possible ...