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Toplam kayıt 468, listelenen: 51-60
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 ...
Cardiac and Pulmonary Investigations in Bethlem Myopathy
(Amer Medical Assoc, 2006)
Background: Bethlem myopathy is considered a relatively mild neuromuscular disorder without significant cardiac and respiratory involvement. Objective: To investigate cardiac and respiratory involvement in Bethlem myopathy. ...
A Hypokalemic Muscular Weakness After Licorice Ingestion: A Case Report
(2009)
A 21-year-old male presented to the emergency department with the complaint of muscle weakness. The patient had used a powderized over-the-counter product named 'Tekumut' for 2 weeks to quit smoking. The granulated product ...
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 ...
Assessment of Cardiovascular Risk in Paediatric Peritoneal Dialysis Patients: A Turkish Pediatric Peritoneal Dialysis Study Group (Tupepd) Report
(Oxford Univ Press, 2009)
Methods. We aimed to clarify arteriosclerotic risk and to document possible relationships between cardiovascular risk factors and echocardiographic parameters in paediatric peritoneal dialysis (PD) patients. M-mode/Doppler/tissue ...
Artemis, A Novel Dna Double-Strand Break Repair/V(D)J Recombination Protein, Is Mutated In Human Severe Combined Immune Deficiency
(Cell Press, 2001)
The V(D)J recombination process insures the somatic diversification of immunoglobulin and antigen T cell receptor encoding genes. This reaction is initiated by a DNA double-strand break (dsb), which is resolved by the ...