Konu "Genetics & Heredity" için Dahili Tıp Bilimleri Bölümü Makale Koleksiyonu listeleme
Toplam kayıt 130, listelenen: 1-20
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A Comprehensive Molecular Study on Coffin-Siris And Nicolaides-Baraitser Syndromes Identifies A Broad Molecular and Clinical Spectrum Converging on Altered Chromatin Remodeling
(Oxford Univ Press, 2013)Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. Denovodominant mutations in different members of the ... -
A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused By Defective De Novo Phosphatidylcholine Biosynthesis
(Cell Press, 2011)Congenital muscular dystrophy is a heterogeneous group of inherited muscle diseases characterized clinically by muscle weakness and hypotonia in early infancy. A number of genes harboring causative mutations have been ... -
A Cross Section of Autosomal Recessive Limb-Girdle Muscular Dystrophies In 38 Families
(BMJ, 2000)Limb-girdle muscular dystrophies constitute a broad range of clinical and genetic entities. We have evaluated 38 autosomal recessive limb-girdle muscular dystrophy (LGMD2) families by linkage analysis for the known loci ... -
A Giant Short Arm Of No. 21 Chromosome In Mother Of 21/21 Translocation Mongol
(British Med Journal Publ Group, 1976) -
A Large Turkish Kindred with Syndactyly Type-II (Synpolydactyly) .1. Field Investigation, Clinical and Pedigree Data
(British Med Journal Publ Group, 1995)A very large Turkish family with syndactyly type II (synpolydactyly (SPD)) is described, which originated from and is mainly concentrated in the village of Derbent, Afyon. The kindred consists of 425 subjects over seven ... -
A Large Turkish Kindred With Syndactyly Type-II (Synpolydactyly) .2. Homozygous Phenotype
(British Med Journal Publ Group, 1995)Syndactyly type II (synpolydactyly (SPD)) is an autosomal dominant condition with typical abnormalities of the distal parts of both upper and lower limbs. We report here a previously undescribed phenotypic feature of people ... -
A Molecular and Clinical Study of Larsen Syndrome Caused by Mutations in FLNB
(BMJ, 2007)Background: Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently, Larsen syndrome was shown to be caused by missense mutations or ... -
A Novel Protein Tyrosine Phosphatase Gene is Mutated in Progressive Myoclonus Epilepsy of the Lafora Type (Epm2)
(Oxford Univ Press, 1999)Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy, myoclonus, progressive neurological deterioration and glycogen-like ... -
A Phenocopy of Caii Deficiency: A Novel Genetic Explanation for Inherited Infantile Osteopetrosis with Distal Renal Tubular Acidosis
(British Med Journal Publ Group, 2003)The rare bone thickening disease osteopetrosis occurs in various forms, one of which is accompanied by renal tubular acidosis (RTA), and is known as Guibaud-Vainsel of this autosomal recessive syndrome comprise oncreased ... -
A Recurrent De Novo Mutation In Kcnc1 Causes Progressive Myoclonus Epilepsy
(Nature Publishing Group, 2015)Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonicclonic seizures and ataxia. We sequenced the exomes of 84 unrelated individuals with PME of unknown ... -
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 ... -
Allelic Variants in Genes Associated with Hereditary Periodic Fever Syndromes as Susceptibility Factors for Reactive Systemic AA Amyloidosis
(Nature Publishing Group, 2004)We investigated the hypothesis that low-penetrance mutations in genes (TNFRSF1A, MEFV and NALP3/CIAS1) associated with hereditary periodic fever syndromes (HPFs) might be risk factors for AA amyloidosis among patients with ... -
Analysis of Centrosome and Dna Damage Response In Plk4 Associated Seckel Syndrome
(Nature Publishing Group, 2017)Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes ... -
Assignment of the Muscle-Eye-Brain Disease Gene to 1P32-P34 by Linkage Analysis and Homozygosity Mapping
(Univ Chicago Press, 1999)Muscle-eye-brain disease (MEB) is an autosomal recessive disease of unknown etiology characterized by severe mental retardation, ocular abnormalities, congenital muscular dystrophy, and a polymicrogyria-pachygyria-type ... -
Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish
(Cell Press, 2012)Bone morphogenetic protein 1 (BMP1) is an astacin metalloprotease with important cellular functions and diverse substrates, including extracellular-matrix proteins and antagonists of some TGF beta superfamily members. ... -
Atypical Aicardi-Goutieres Syndrome: Is the Wrn Locus a Modifier?
(Wiley-Blackwell, 2014)We describe a 28-year-old Turkish man with consanguineous parents who presented with an aged appearance with prematurely gray hair and scleroderma-like skin, spastic paraplegia, and apparent disability. The proband and ... -
Bernard Lerer: Recipient of the 2014 Inaugural Werner Kalow Responsible Innovation Prize in Global Omics and Personalized Medicine (Pacific Rim Association For Clinical Pharmacogenetics)
(Mary Ann Liebert, Inc, 2014)This article announces the recipient of the 2014 inaugural Werner Kalow Responsible Innovation Prize in Global Omics and Personalized Medicine by the Pacific Rim Association for Clinical Pharmacogenetics (PRACP): Bernard ... -
Calpainopathy - A Survey of Mutations and Polymorphisms
(Cell Press, 1999)Limb-girdle muscular dystrophy-type 2A (LGMD2A) is an autosomal recessive disorder characterized mainly by symmetrical and selective atrophy of the proximal limb muscles. It derives, from defects in the, human CAPN3 gene, ... -
Cc2D2A Is Mutated In Joubert Syndrome And Interacts With The Ciliopathy-Associated Basal Body Protein Cep290
(Cell Press, 2008)Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-hindbrain malformation. ...
