Browsing Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu by Title
Now showing items 1762-1781 of 2912
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Mutations In Ichthyin A New Gene On Chromosome 5Q33 In A New Form Of Autosomal Recessive Congenital Ichthyosis
(Oxford Univ Press, 2004)We report the genomic localization by homozygosity mapping and the identification of a gene for a new form of non-syndromic autosomal recessive congenital ichthyosis. The phenotype usually presents as non-bullous congenital ... -
Mutations In Ig Alpha (Cd79A) Result In In B-Cell Development
(Amer Soc Clinical Investigation Inc, 1999)Mutations in Btk, mu heavy chain, or the surrogate light chain account for 85-90% of patients with early onset hypogammaglobulinemia and absent B cells. The nature of the defect in the remaining patients is unknown. We ... -
Mutations In Keops-Complex Genes Cause Nephrotic Syndrome With Primary Microcephaly
(Nature Publishing Group, 2017)Galloway-Mowat syndrome (GAMOS) is an autosomal-recessive disease characterized by the combination of early-onset nephrotic syndrome (SRNS) and microcephaly with brain anomalies. Here we identified recessive mutations in ... -
Mutations In Klhl40 Are A Frequent Cause Of Severe Autosomal-Recessive Nemaline Myopathy
(Cell Press, 2013)Nemaline myopathy (NEM) is a common congenital myopathy. At the very severe end of the NEM clinical spectrum are genetically unresolved cases of autosomal-recessive fetal akinesia sequence. We studied a multinational cohort ... -
Mutations In Plce1 Are A Major Cause Of Isolated Diffuse Mesangial Sclerosis (Idms)
(Oxford Univ Press, 2008)Background and objectives. Diffuse mesangial sclerosis (DMS) is a histologically distinct variant of nephrotic syndrome (NS) that is characterized by early onset and by progression to end-stage kidney disease (ESKD). Besides ... -
Mutations In Ripk4 Cause The Autosomal-Recessive Form Of Popliteal Pterygium Syndrome
(Cell Press, 2012)The autosomal-recessive form of popliteal pterygium syndrome, also known as Bartsocas-Papas syndrome, is a rare, but frequently lethal disorder characterized by marked popliteal pterygium associated with multiple congenital ... -
Mutations In Signal Recognition Particle Srp54 Cause Syndromic Neutropenia With Shwachman-Diamond-Like Features
(Amer Soc Clinical Investigation Inc, 2017)Shwachman-Diamond syndrome (SDS) (OMIM # 260400) is a rare inherited bone marrow failure syndrome (IBMFS) that is primarily characterized by neutropenia and exocrine pancreatic insufficiency. Seventy-five to ninety percent ... -
Mutations In Slc34A2 Cause Pulmonary Alveolar Microlithiasis And Are Possibly Associated With Testicular Microlithiasis
(Cell Press, 2006)Pulmonary alveolar microlithiasis (PAM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. We first identified a PAM locus by homozygosity mapping to 4p15, then identified, ... -
Mutations In Stat3 And Diagnostic Guidelines For Hyper-Ige Syndrome
(Mosby-Elsevier, 2010)Background: The hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by infections of the lung and skin, elevated serum IgE, and involvement of the soft and bony tissues. Recently, HIES has been associated ... -
Mutations In Stat3 And Il12Rb1 Impair The Development Of Human Il-17–Producing T Cells
(2008)The cytokines controlling the development of human interleukin (IL) 17–producing T helper cells in vitro have been difficult to identify. We addressed the question of the development of human IL-17–producing T helper cells ... -
Mutations In The Chloride-Bicarbonate Exchanger Gene Ae1 Cause Autosomal Dominant But Not Autosomal Recessive Distal Renal Tubular Acidosis
(Natl Acad Sciences, 1998)Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Kindreds showing either ... -
Mutations In The Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis And Infantile Systemic Hyalinosis
(Univ Chicago Press, 2003)Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, joint contractures, and hyaline ... -
Mutations In The Gene Encoding Gap Junction Protein Alpha 12 (Connexin 46.6) Cause Pelizaeus-Merzbacher-Like Disease
(Cell Press, 2004)The hypomyelinating leukodystrophies X-linked Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher like disease (PMLD) are characterized by nystagmus, progressive spasticity, and ataxia. In a consanguineous family ... -
Mutations In The Gene Encoding The Rer Protein Fkbp65 Cause Autosomal-Recessive Osteogenesis Imperfecta
(Cell Press, 2010)Osteogenesis imperfecta is a clinically and genetically heterogeneous brittle bone disorder that results from defects in the synthesis, structure, or posttranslational modification of type I procollagen. Dominant forms of ... -
Mutations In The Tgf Beta Binding-Protein-Like Domain 5 Of Fbn1 Are Responsible For Acromicric And Geleophysic Dysplasias
(Cell Press, 2011)Geleophysic (GD) and acromicric dysplasia (AD) belong to the acromelic dysplasia group and are both characterized by severe short stature, short extremities, and stiff joints. Although All has an unknown molecular basis, ... -
Mutations In The Very Low-Density Lipoprotein Receptor Vldlr Cause Cerebellar Hypoplasia And Quadrupedal Locomotion In Humans
(Natl Acad Sciences, 2008)Quadrupedal gait in humans, also known as Unertan syndrome, is a rare phenotype associated with dysarthric speech, mental retardation, and varying degrees of cerebrocerebellar hypoplasia. Four large consanguineous kindreds ... -
Mutations In The Wilms' Tumor 1 Gene Cause Isolated Steroid Resistant Nephrotic Syndrome And Occur In Exons 8 And 9
(Nature Publishing Group, 2006)Primary steroid-resistant nephrotic syndrome (SRNS) is characterized by childhood onset of proteinuria and progression to end-stage renal disease. Approximately 10-25% of familial and sporadic cases are caused by mutations ... -
Mutations In Vipar Cause An Arthrogryposis, Renal Dysfunction And Cholestasis Syndrome Phenotype With Defects In Epithelial Polarization
(Nature Publishing Group, 2010)Arthrogryposis, renal dysfunction and cholestasis syndrome (ARC) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells. Mutations in VPS33B account for most cases of ARC. We identified ...
