Başlık için Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu listeleme
Toplam kayıt 2912, listelenen: 1742-1761
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Musculoskeletal Pain In Elderly Patients With Osteoporosis: A Multicenter Study
(Galenos Yayıncılık, 2012)Objective: The aim of this study was to identify the ones with osteoporosis (OP) in elderly patients presenting with musculoskeletal complaints and to evaluate the distribution of region of pain and the medications used ... -
Musculoskeletal Ultrasonography In Physical And Rehabilitation Medicine
(Foundation Rehabilitation Information, 2012)Musculoskeletal ultrasound has gained a significant place in the diagnosis and management of various musculoskeletal disorders due to its several advantages (being convenient, inexpensive, non-invasive, repeatable, providing ... -
Musculoskeletal Ultrasound In Pediatric Rheumatology
(2011)Although musculoskeletal ultrasound (MSUS) has emerged as an indispensible tool among physicians involved in musculoskeletal medicine in the last two decades, only recently has it become more attractive to pediatric ... -
Musculoskeletal Ultrasound Workshops In Postgraduate Physician Training: A Pre- And Post-Workshop Survey Of 156 Participants
(2019)Background Use of ultrasonography has revolutionized diagnosis of musculoskeletal disorders. Until now, few studies have investigated usefulness of a short-period workshop for musculoskeletal ultrasound (MSKUS) education. ... -
Mutation Analysis Of The Entire Pkd1 Gene: Genetic And Diagnostic Implications
(Cell Press, 2001)Mutation screening of the major autosomal dominant polycystic kidney disease (ADPKD) locus, PKD1, has proved difficult because of the large transcript and complex reiterated gene region. We have developed methods, employing ... -
Mutation In Exon 1F Of Plec, Leading To Disruption Of Plectin Isoform 1F, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy
(Cell Press, 2010)Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of inherited muscular disorders manifesting symmetric, proximal, and slowly progressive muscle weakness. Using Affymetrix 250K SNP Array genotyping ... -
Mutation Spectrum Of Fumarylacetoacetase Gene And Clinical Aspects Of Tyrosinemia Type I Disease
(Springer-Verlag Berlin, 2011)Tyrosinemia type I (OMIM 276700) is a rare, autosomal recessive disorder caused by a deficiency in the fumarylacetoacetate hydrolase (FAH) enzyme. This study examined the spectrum of FAH gene mutation in 32 patients with ... -
Mutational Analysis Of The Xanthine Dehydrogenase Gene In A Turkish Family With Autosomal Recessive Classical Xanthinuria
(Oxford Univ Press, 2003)Background. Classical xanthinuria is classified into two categories: type I, deficient only in xanthine dehydrogenase (XDH) activity; and type II, deficient in both XDH and aldehyde oxidase. Both types present mainly with ... -
Mutations Affecting The Bhlha9 Dna-Binding Domain Cause Mssd, Mesoaxial Synostotic Syndactyly With Phalangeal Reduction, Malik-Percin Type
(Cell Press, 2014)Mesoaxial synostotic syndactyly, Malik-Percin type (MSSD) (syndactyly type IX) is a rare autosomal-recessive nonsyndromic digit anomaly with only two affected families reported so far. We previously showed that the trait ... -
Mutations In 3 Genes (Mks3, Cc2D2A And Rpgrip1L) Cause Coach Syndrome (Joubert Syndrome With Congenital Hepatic Fibrosis)
(B M J Publishing Group, 2010)Objective To identify genetic causes of COACH syndrome Background COACH syndrome is a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), ... -
Mutations In A Gene Encoding A Novel Sh3/Tpr Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy
(Univ Chicago Press, 2003)Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a distinct Schwann cell pathology. CMT4C is inherited ... -
Mutations In Anks6 Cause A Nephronophthisis-Like Phenotype With Esrd
(Amer Soc Nephrology, 2014)Nephronophthisis (NPHP) is one of the most common genetic causes of CKD; however, the underlying genetic abnormalities have been established in <50% of patients. We performed genome-wide analysis followed by targeted ... -
Mutations In Arfgef2 Implicate Vesicle Trafficking In Neural Progenitor Proliferation And Migration In The Human Cerebral Cortex
(Nature Publishing Group, 2004)Disruption of human neural precursor proliferation can give rise to a small brain ( microcephaly), and failure of neurons to migrate properly can lead to an abnormal arrest of cerebral cortical neurons in proliferative ... -
Mutations In Atp6V1E1 Or Atp6V1A Cause Autosomal-Recessive Cutis Laxa
(Cell Press, 2017)Defects of the V-type proton (H+) ATPase (V-ATPase) impair acidification and intracellular trafficking of membrane-enclosed compartments, including secretory granules, endosomes, and lysosomes. Whole-exome sequencing in ... -
Mutations In B3Galnt2 Cause Congenital Muscular Dystrophy And Hypoglycosylation Of Alpha-Dystroglycan
(Cell Press, 2013)Mutations in several known or putative glycosyltransferases cause glycosylation defects in alpha-dystroglycan (alpha-DG), an integral component of the dystrophin glycoprotein complex. The hypoglycosylation reduces the ... -
Mutations In Cln7/Mfsd8 Are A Common Cause Of Variant Late-Infantile Neuronal Ceroid Lipofuscinosis
(Oxford Univ Press, 2009)The neuronal ceroid lipofuscinoses (NCLs), the most common neurodegenerative disorders of childhood, are characterized by the accumulation of autofluorescent storage material mainly in neurons. Although clinically rather ... -
Mutations In Col6A3 Cause Severe And Mild Phenotypes Of Ullrich Congenital Muscular Dystrophy
(Univ Chicago Press, 2002)Ullrich congenital muscular dystrophy (UCMD) is an autosomal recessive disorder characterized by generalized muscular weakness, contractures of multiple joints, and distal hyperextensibility. Homozygous and compound ... -
Mutations In Cspp1 Cause Primary Cilia Abnormalities And Joubert Syndrome With Or Without Jeune Asphyxiating Thoracic Dystrophy
(Cell Press, 2014)Joubert syndrome (JBTS) is a recessive ciliopathy in which a subset of affected individuals also have the skeletal dysplasia Jeune asphyxiating thoracic dystrophy (JATD). Here, we have identified biallelic truncating CSPP1 ...
