Ara
Toplam kayıt 466, listelenen: 61-70
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, ...
Genotype-Phenotype Analysis Of Human Frontoparietal Polymicrogyria Syndromes
(Wiley, 2005)
Human cerebral cortical polymicrogyria is a heterogeneous disorder, with only one known gene (GPR56) associated with an apparently distinctive phenotype, termed bilateral frontoparietal polymicrogyria (BFPP). To define the ...
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 Kif21A Mutations As A Rare Cause Of Congenital Fibrosis Of The Extraocular Muscles Type 3 (Cfeom3)
(Assoc Research Vision Ophthalmology Inc, 2004)
PURPOSE. Three congenital fibrosis of the extraocular muscles phenotypes (CFEOM1-3) have been identified. Each represents a specific form of paralytic strabismus characterized by congenital restrictive ophthalmoplegia, ...
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 ...
Hyper-Igm Syndrome Type 4 With A B Lymphocyte-Intrinsic Selective Deficiency In Ig Class-Switch Recombination
(Amer Soc Clinical Investigation Inc, 2003)
Hyper-IgM syndrome (HIGM) is a heterogeneous condition characterized by impaired Ig class-switch recombination (CSR). The molecular defects that have so far been associated with this syndrome which affect the CD40 ligand ...
Hypertrichosis: The Possible Side Effect Of Cyclosporin In An Infant With Hemophagocytic Lymphohistiocytosis Receiving Hlh-2004 Chemotherapy Protocol
(Aves Yayincilik, 2009)
Hemophagocytic lymphohistiocytosis is a life-threatening condition of severe hyperinflammation that results from an uncontrolled proliferation of activated lymphocytes and histiocytes secreting high amounts of inflammatory ...