Yayıncı "B M J Publishing Group" için listeleme
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Accounting For Genetic Heterogeneity In Homozygosity Mapping: Application To Mendelian Susceptibility To Mycobacterial Disease
(B M J Publishing Group, 2011)Introduction Genome-wide homozygosity mapping is a powerful method for locating rare recessive Mendelian mutations. However, statistical power decreases dramatically in the presence of genetic heterogeneity. Methods The ... -
Ahi1 Mutations Cause Both Retinal Dystrophy and Renal Cystic Disease in Joubert Syndrome
(B M J Publishing Group, 2006)Background: Joubert syndrome (JS) is an autosomal recessive disorder characterised by hypotonia, ataxia, mental retardation, altered respiratory pattern, abnormal eye movements, and a brain malformation known as the molar ... -
C Reactive Protein: Protecting from Lupus in Familial Mediterranean Fever
(B M J Publishing Group, 2005) -
Coexistence Of Lactating Adenoma And Invasive Ductal Adenocarcinoma Of The Breast In A Pregnant Woman
(B M J Publishing Group, 2005)A 36 year old pregnant woman was admitted to hospital complaining of an enlarging mass in her left breast. Histopathological examination of the mastectomy specimen revealed a high grade infiltrating ductal adenocarcinoma ... -
Comprehensive Isokinetic Knee Measurements And Quadriceps Tendon Evaluations In Footballers For Assessing Functional Performance
(B M J Publishing Group, 2003)Objectives: To ascertain whether detailed isokinetic knee muscle testing reflects the results of other functional measurements in footballers and to look for any correlations between quadriceps tendon thickness and knee ... -
Decreased Prevalence Of Atopy In Paediatric Patients With Familial Mediterranean Fever
(B M J Publishing Group, 2004)Background: A number of inflammatory diseases, including familial Mediterranean fever (FMF), have been shown to be driven by a strongly dominated Th1 response, whereas the pathogenesis of atopic diseases is associated with ... -
Differences In Sole Arch Indices In Various Sports
(B M J Publishing Group, 2005)Background: There are controversial data about the relation between foot morphology and athletic injuries of the lower extremity. Studies in soldiers have shown some relationship, whereas those involving athletes have not ... -
Eular Evidence-Based Recommendations For The Management Of Fibromyalgia Syndrome
(B M J Publishing Group, 2008)Objective: To develop evidence-based recommendations for the management of fibromyalgia syndrome. Methods: A multidisciplinary task force was formed representing 11 European countries. The design of the study, including ... -
Eular/Pres Endorsed Consensus Criteria For The Classification Of Childhood Vasculitides
(B M J Publishing Group, 2006)Background: There has been a lack of appropriate classification criteria for vasculitis in children. Objective: To develop a widely accepted general classification for the vasculitides observed in children and specific and ... -
Extensive Scanning Of The Calpain-3 Gene Broadens The Spectrum Of Lgmd2A Phenotypes
(B M J Publishing Group, 2005)Background: The limb girdle muscular dystrophies ( LGMD) are a heterogeneous group of Mendelian disorders highlighted by weakness of the pelvic and shoulder girdle muscles. Seventeen autosomal loci have been so far identified ... -
High Cystine In Platelets From Patients With Nephropathic Cystinosis: A Chemical, Ultrastructural, And Functional Evaluation
(B M J Publishing Group, 2005)Aim: To investigate the morphology and function of platelets in nephropathic cystinosis (NC). Methods: Seven patients ( mean age, 6.5 years; SD, 20 months) with NC were investigated. Their platelets were examined by ... -
Interferon Alfa in Protracted Arthritis of Familial Mediterranean Fever: A Robust Alternative for Synovectomy
(B M J Publishing Group, 2004) -
Molecular Screening Of Adamtsl2 Gene In 33 Patients Reveals The Genetic Heterogeneity Of Geleophysic Dysplasia
(B M J Publishing Group, 2011)Background Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin. Patients often present with a progressive cardiac ... -
Multiple Osteochondroses And Avulsion Fracture Of Anterior Superior Iliac Spine In A Soccer Player
(B M J Publishing Group, 2005)Apophysitis describes a chronic traction injury at the insertion site of a tendon. There is a gradual onset of pain with no clear history of injury. Without adequate preventive methods, an avulsion fracture may result. The ... -
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), ... -
Quantification of the Weakness and Fatigue in Thoracic Outlet Syndrome with Isokinetic Measurements
(B M J Publishing Group, 2005)Objectives: Patients with thoracic outlet syndrome (TOS) complain of many subjective symptoms that are difficult to measure and quantify. In this study we have tried to assess the weakness ( muscle strength) and fatigue ( ... -
Relation Between Foot Arch Index and Ankle Strength in Elite Gymnasts: A Preliminary Study
(B M J Publishing Group, 2005)Background: Gymnasts usually start intensive training from early childhood. The impact of such strenuous training on the musculoskeletal system is not clear. Objectives: To evaluate the relation between muscle strength of ... -
Rights of Patients in Developing Countries: The Case of Turkey
(B M J Publishing Group, 2004)Patient rights are universal values which we have to adopt. It is not so easy, however, to put such values and principles into effect. As approaches and attitudes differ from individual to individual, from society to ... -
Varicella Vaccination In Children With Lymphoma And Solid Tumours
(B M J Publishing Group, 2006)Background: Varicella infection can be a severe disease, especially in immunosuppressed patients. Here, experience with live varicella vaccine to prevent varicella infection is reported in children who were undergoing ...