The DMD gene encodes dystrophin, a large muscle protein that is mutant in Duchenne (310200) and Becker (300376) muscular dystrophy, defined as progressive ... ... <看更多>
「dmd omim」的推薦目錄：
dmd omim 在 MUSCULAR DYSTROPHY, BECKER TYPE; BMD - OMIM 的相關結果
The muscular dystrophy that carries the Becker eponym is similar to Duchenne muscular dystrophy in the distribution of muscle wasting and weakness, ... ... <看更多>
dmd omim 在 310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD 的相關結果
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced ... ... <看更多>
dmd omim 在 307030 - GLYCEROL KINASE DEFICIENCY; GKD - OMIM 的相關結果
... (300200) and/or Duchenne muscular dystrophy (DMD; 310200), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996). ... <看更多>
dmd omim 在 OMIM Entry - % 300030 - DEAFNESS, X-LINKED 3; DFNX3 的相關結果
No recombination events were noted with markers within the Duchenne muscular dystrophy locus (DMD; 310200). There was, however, no clinical evidence of ... ... <看更多>
dmd omim 在 300679 - CHROMOSOME Xp21 DELETION SYNDROME 的相關結果
... dystrophin (300377), which causes Duchenne muscular dystrophy (DMD; 310200), ... associated with DMD and/or AHC (summary by Stanczak et al., 2007). ... <看更多>
dmd omim 在 Risk assessment and genetic counseling in families ... - NCBI 的相關結果
Duchenne muscular dystrophy (DMD, OMIM # 310200) is the most common muscle disorder in childhood and also the most frequent X-linked recessive disease. The ... ... <看更多>
dmd omim 在 review - Distrofia Muscular Progressiva 的相關結果
Duchenne muscular dystrophy (DMD; OMIM 310200) is an X-linked recessive disorder that affects 1 in 3,500 males and is caused by mutations in the dystrophin ... ... <看更多>
dmd omim 在 LOINC LP19502-1 — DMD gene 的相關結果
Source: Online Mendelian Inheritance in Man®, Link to OMIM · LP19502-1 DMD gene. The DMD gene (dystrophin) [HGNC Gene ID:2928] is located on chromosome ... ... <看更多>
dmd omim 在 Gene Mutation Browser - Coriell Institute 的相關結果
Gene Gene Omim Number Disease Omim Number Chromosome Location Gene Mutation
DMD 300377 310200 Xp21.2
DMD 300377 310200 Xp21.2 5'END‑EX19DEL
DMD 300377 310200 Xp21.2 7893delC ... <看更多>
dmd omim 在 OMIM 300376; Duchenne Muscular Dystrophy (DMD) 的相關結果
It is a serious x-linked, recessive disorder caused by mutations in the DMD gene (OMIM 300377). It includes DMD-associated dilated cardiomyopathy, where the ... ... <看更多>
dmd omim 在 DMD/BMD prenatal diagnosis and treatment expectation in a ... 的相關結果
Duchenne muscular dystrophy (DMD, OMIM: 310200), the most common X-linked recessive inherited muscle disease, affects approximately 0.02% of all ... ... <看更多>
dmd omim 在 DMD gene: MedlinePlus Genetics 的相關結果
DMD , the largest known human gene, provides instructions for making a protein called dystrophin. Learn about this gene and related health conditions. ... <看更多>
dmd omim 在 The Muscular Dystrophies - OMMBID 的相關結果
The first description of Duchenne muscular dystrophy (DMD) (OMIM 310200), ... Both are caused by mutations in the gene DMD (also known as dystrophin). ... <看更多>
dmd omim 在 Micro-dystrophin Genes Bring Hope of an Effective Therapy ... 的相關結果
muscular dystrophy (DMD) to replace the missing dystrophin gene in both ... DMD is the low gene capacity of rAAV ... DMD (OMIM: 310200) is an X-linked. ... <看更多>
dmd omim 在 EMQN best practice guidelines for genetic testing in ... - Nature 的相關結果
The main phenotypes associated with pathogenic. DMD variants are severe Duchenne muscular dystrophy. (DMD, OMIM #310200), milder Becker muscular ... ... <看更多>
dmd omim 在 TESTING FOR MYOTONIC DYSTROPHY TRIPLET REPEAT ... 的相關結果
Duchenne muscular dystrophy (DMD; OMIM 310200) and Becker muscular dystrophy (BMD; OMIM. 300376) are due to mutations in the DMD gene, located at Xp12.2. ... <看更多>
dmd omim 在 Frontiers | Case Report: Whole-Exome Sequencing With MLPA 的相關結果
Duchenne muscular dystrophy (DMD; OMIM 310200) is an X-linked recessive genetic disorder caused by defects of the DMD gene (OMIM 300377) on the ... ... <看更多>
dmd omim 在 Leiden Muscular Dystrophy Pages 的相關結果
... designed for scientist performing research and/or diagnosis in Duchenne and Duchenne-like muscular dystrophies (i.e. Duchenne, Becker, Limb-Girdle). ... <看更多>
dmd omim 在 財團法人彰化基督教醫院基因醫學部 的相關結果
參考文獻(REFERENCE) : 1. Duchenne Muscular Dystrophy (DMD): OMIM #310200。 2. Becker Muscular Dystrophy (BMD): OMIM #300376。 Gwo-Chin Ma, Ph.D. (馬國欽博士). ... <看更多>
dmd omim 在 duchenne muscular dystrophy Gene Set - Ma'ayan Laboratory ... 的相關結果
1 genes associated with the duchenne muscular dystrophy phenotype from the curated OMIM Gene-Disease Associations dataset. ... <看更多>
dmd omim 在 Duchenne muscular dystrophy - Orphanet 的相關結果
DMD ; Severe dystrophinopathy, Duchenne type. Prevalence: 1-9 / 100 000; Inheritance: X-linked recessive; Age of onset: Childhood; ICD-10: G71.0; OMIM: ... ... <看更多>
dmd omim 在 基于孕前优生平台的育龄女性假肥大型肌营养不良症携带者筛查 ... 的相關結果
假肥大型肌营养不良(Duchenne muscular dystrophy，DMD) ( OMIM # 310200 )是一种X染色体连锁隐性遗传病，是一类最常见的进行性肌营养不良症，群体发病率 ... ... <看更多>
dmd omim 在 Background of the disease - Exon skipping 的相關結果
The progressive deterioration of muscle fibers in Duchenne Muscular Dystrophy (DMD, OMIM#310200) is caused by the deficiency of the dystrophin protein. ... <看更多>
dmd omim 在 RefSeq Gene DMD - UCSC Genome Browser 的相關結果
Summary of DMD ... Gene Symbol: DMD ... Click the appropriate Label option to display the accession name or OMIM identifier instead of the gene name, ... ... <看更多>
dmd omim 在 Human Disease Model Report: Duchenne muscular dystrophy 的相關結果
Parent Disease. OMIM. MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD. Overview. In humans, multiple genes have been implicated in muscular dystrophy; in addition, ... ... <看更多>
dmd omim 在 S2 Table. - PLOS 的相關結果
P8, DMD, Congenital muscular dystrophy (HP:0003741). 9, M, P, CAPN3, AR, Muscular dystrophy, limb-girdle, autosomal recessive 1 (OMIM: 253600). ... <看更多>
dmd omim 在 DMD gene page - eDGAR 的相關結果
Gene table of DMD : dystrophin ... Disease ID, Disease name, Source of annotation with DMD, OMIM link, Number of associated genes, genes ... ... <看更多>
dmd omim 在 Comprehensive Molecular Analysis of DMD Gene Increases ... 的相關結果
DMD /BMD is an X-linked recessive disease caused by sequence alterations occurring in the DMD gene (OMIM *300377) encoding the dystrophin protein [6,7]. ... <看更多>
dmd omim 在 Genetic analysis of 1051 Chinese families with Duchenne ... 的相關結果
detect DMD gene deletions or duplications, and NGS and Sanger sequencing are then applied to exclude ... Duchenne muscular dystrophy (DMD, OMIM: 310200),. ... <看更多>
dmd omim 在 Exon skipping induced by nonsense/frameshift mutations in ... 的相關結果
In male patients, a nonsense or frameshift mutation in the DMD gene cause a severe phenotype, Duchenne muscular dystrophy (DMD; OMIM 310,200), ... ... <看更多>
dmd omim 在 Jobs and Courses - esgct 的相關結果
Description: Duchenne muscular dystrophy (DMD; OMIM #310200) is a fatal X-linked neuromuscular disorder caused by loss of function mutations in the ... ... <看更多>
dmd omim 在 Dystrophin - Wikipedia 的相關結果
Dystrophin ; DMD, BMD, CMD3B, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85, dystrophin · OMIM: 300377 MGI: 94909 HomoloGene: ... ... <看更多>
dmd omim 在 GDGDB - ACGG 的相關結果
Disease name: Preferred Term ABBR, DMD. Disease name: Synonyms (from OMIM and MeSH), MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE ... <看更多>
dmd omim 在 Combining Protein Expression and Molecular Data Improves ... 的相關結果
Different mutations in the DMD gene, which encodes for dystrophin protein ... DMD (OMIM #310200), one of the most common and severe forms of ... ... <看更多>
dmd omim 在 Disease #05324 (DMD (dystrophy, muscular, Duchenne type ... 的相關結果
Genes screened Variants in genes
00007484 Netherlands cancer, breast, DMD BRCA1, BRCA2 BRCA2 1 1
00007485 Netherlands cancer, breast, DMD BRCA1, BRCA2 BRCA2 1 1
00007486 Netherlands cancer, breast, DMD BRCA1, BRCA2 BRCA2 1 1 ... <看更多>
dmd omim 在 Test | Dystrophinopathy via the DMD Gene - PreventionGenetics 的相關結果
The dystrophinopathies include Duchenne muscular dystrophy (DMD, OMIM 310200), Becker muscular dystrophy (BMD, OMIM 300376), and dilated cardiomyopathy, ... ... <看更多>
dmd omim 在 PhD Studentship – Therapeutic genome editing - sftcg 的相關結果
Description: Duchenne muscular dystrophy (DMD; OMIM #310200) is a fatal X-linked neuromuscular disorder caused by loss of function mutations in the dystrophin ... ... <看更多>
dmd omim 在 The dystrophinopathies in Costa Rica - SciELO 的相關結果
Key words: Muscular dystrophy, Duchenne, Becker, X chromosome, carriers, ... from cardiac failure (Emery 1993, and for a more updated review see OMIM). ... <看更多>
dmd omim 在 Empleos y cursos - SETGyC 的相關結果
Description: Duchenne muscular dystrophy (DMD; OMIM #310200) is a fatal X-linked neuromuscular disorder caused by loss of function mutations in the ... ... <看更多>
dmd omim 在 (PDF) Case Report: Whole-Exome Sequencing With MLPA ... 的相關結果
PDF | Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are two ... Duchenne muscular dystrophy (DMD; OMIM 310200) is an. ... <看更多>
dmd omim 在 OMIM:310200 - Human Phenotype Ontology 的相關結果
Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of ... ... <看更多>
dmd omim 在 Online Resource Centre | OMIM Database Links - Oxford ... 的相關結果
OMIM ™ - Online Mendelian Inheritance in Man™ - is a catalog database of ... Duchenne muscular dystrophy, www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=310200. ... <看更多>
dmd omim 在 Rapid method for targeted prenatal diagnosis of Duchenne ... 的相關結果
The dystrophinopathies encompass a spectrum of muscle diseases caused by mutations in the DMD gene, which encodes the protein dystrophin (OMIM 300377, Online ... ... <看更多>
dmd omim 在 RetNet: Genes and Mapped Loci Causing Retinal Diseases 的相關結果
OMIM Numbers, Location, Diseases; ... DMD; 310200, Xp21.2-p21.1, X-linked Oregon eye disease (probably); protein: dystrophin [Gene] ... ... <看更多>
dmd omim 在 DMD - Genomics England PanelApp 的相關結果
Green DMD in Gene therapy clinical trials ... Sources. OMIM. Tags. Skewed X-inactivation. Green DMD in Gastrointestinal neuromuscular disorders. ... <看更多>
dmd omim 在 Consenso colombiano para el seguimiento de pacientes con ... 的相關結果
La distrofia muscular de Duchenne (DMD) (OMIM #310200,. ORPHA: 98896) es la distrofia muscular más grave y común en niños. Es un trastorno genético ... ... <看更多>
dmd omim 在 Duchenne and Becker muscular Dystrophies (OMIM ) are ... 的相關結果
Becker, Duchenne, Carrier, Dystrophin, Mutation ... whose major clinical feature is progressive muscle weakness (OMIM 310200 & 300376). ... <看更多>
dmd omim 在 Dystrophin - Homo sapiens (Human) - DMD gene & protein 的相關結果
Becker muscular dystrophy has a more benign course than Duchenne muscular dystrophy. Related information in OMIM. Feature key, Position(s), DescriptionActions ... ... <看更多>
dmd omim 在 Genetic testing for Duchenne/Becker muscular dystrophy in ... 的相關結果
Duchenne muscular dystrophy (DMD) (OMIM #310200) is an X-linked recessive inherited muscle-wasting disease characterised primarily by progressive weakness and ... ... <看更多>
dmd omim 在 Duchenne muscular dystrophy and dystrophin - EMBO Press 的相關結果
The vast majority of DMD patients lack the dystrophin protein. Becker muscular dystrophy (BMD; OMIM 300376)—a much milder form of the disease—is caused by a ... ... <看更多>
dmd omim 在 Muskeldystrophie Duchenne/Becker (X-chromosomal) OMIM ... 的相關結果
Diese Website verwendet Cookies, um Ihnen einen besseren Service zu bieten. Mit der Nutzung unserer Website erklären Sie sich mit der ... ... <看更多>
dmd omim 在 Differing disease phenotypes of Duchenne muscular ... - X-MOL 的相關結果
Duchenne muscular dystrophy (DMD, OMIM#310200) is X-linked recessive ... On the other hand, Moyamoya disease (MMD, OMIM #607151) is a ... ... <看更多>
dmd omim 在 a multi-technique molecular analysis of a dmd - Authorea 的相關結果
Our work depicts a familial Duchenne muscular dystrophy case with a complex ... diseases caused by pathogenic variants in DMD gene (OMIM. ... <看更多>
dmd omim 在 Complexities of Clinical Genetics Consultation - MedEdPORTAL 的相關結果
Muscular dystrophy, Duchenne type; DMD. OMIM website. https://www.omim.org/entry/310200. Published June 4, 1986. Updated November 26, 2018. ... <看更多>
dmd omim 在 Genetic Diagnosis of Single Gene Disorders - KoreaScience 的相關結果
Key Words: Preimplantation genetic diagnosis, Single cell PCR, Duchenne muscular ... DMD (OMIM No. ... res in the pre-clinical diagnostic tests for Duchenne. ... <看更多>
dmd omim 在 DMD/BMD Linkage Analysis [#3097] - Duzen Laboratories ... 的相關結果
... TYPE (OMIM #310200);MUSCULAR DYSTROPHY, BECKER TYPE (OMIM #300376);. Synonym. Duchenne muscular dystrophy (DMD) linkage Analysis;Becker ... ... <看更多>
dmd omim 在 A novel FKRP-related muscular dystrophy founder mutation in ... 的相關結果
[1] Duchenne's muscular dystrophy (DMD; OMIM #310200) and Becker's muscular dystrophy (BMD; OMIM #300376), grouped together as dystrophinopathies, are both ... ... <看更多>
dmd omim 在 Muskeldystrophie/Muskeldystrophie Typ Duchenne (DMD ... 的相關結果
Muskeldystrophie/Muskeldystrophie Typ Duchenne (DMD,OMIM 310200)/Muskeldystrophie Typ Becker (BMD, OMIM 300376). Die Bezeichnung Muskeldystrophie beschreibt ... ... <看更多>
dmd omim 在 Protein and DNA diagnostics for genetic muscular dystrophies ... 的相關結果
OMIM. Disease. Gene. 310200 / 300376. Duchenne muscular dystrophy / Becker muscular dystrophy. DMD. 310300. X-linked Emery Dreifuss muscular dystrophy type ... ... <看更多>
dmd omim 在 Duchennes muskeldystrofi - Socialstyrelsen 的相關結果
Gothia förlag. Databaser. OMIM (Online Mendelian Inheritance in Man) omim.org. Sökord: duchenne muscular dystrophy. GeneReviews (University of ... ... <看更多>
dmd omim 在 Clinical Summary Key Results and Interpretatoins: Variant of ... 的相關結果
Mutation in the DMD gene found to be associated with Duchenne muscular dystrophy and Becker muscular dystrophy (DMD, OMIM #310200, #300376). ... <看更多>
dmd omim 在 A novel DMD intronic alteration: a potentially disease-causing ... 的相關結果
Pathogenic germline variants in DMD gene, which encodes the well-known cy- ... Duchenne muscular dystrophy (DMD; OMIM #310200),. ... <看更多>
dmd omim 在 Gene Term Annotation Report - Rat Genome Database 的相關結果
Dmd, ISO, RGD:736976 · 7240710, OMIM ... Dmd, ISO, RGD:736976 · 8554872, ClinVar, ClinVar Annotator: match by OMIM:302045, PMID:19937601. ... <看更多>
dmd omim 在 Resources for Researchers and Clinicians - Carver College of ... 的相關結果
Online Databases DOVE: DMD open-access variant explorer FSHD2 – SMCHD1 sequence ... inheritance of man (OMIM) · The DMD mutations database: UMD-DMD France ... ... <看更多>
dmd omim 在 Modeling lethal X-linked genetic disorders in pigs with ... - PNAS 的相關結果
300400) (9), and DMD (OMIM no. 310200) (10). Chimerism induced in a gene-deficient embryo has been demonstrated to. ... <看更多>
dmd omim 在 Identification of two novel Duchenne muscular ... - J Genet Med 的相關結果
Duchenne and Becker muscular dystrophies (DMD, OMIM #310200 and BMD, OMIM #300376; respectively) are caused by mutations in DMD ... ... <看更多>
dmd omim 在 DMD - ClinGen Dosage Sensitivity Map 的相關結果
... OMIM: https://omim.org/entry/300377; Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1116/?term=DMD%5Bgenesymbol%5D; ClinGen Haploinsufficiency ... ... <看更多>
dmd omim 在 Risk assessment and genetic counseling in ... - CiteSeerX 的相關結果
Duchenne muscular dystrophy (DMD, OMIM # ... Mutations in the dystrophin gene (OMIM * 300377) ... trophin gene confirms the diagnosis of DMD or BMD. ... <看更多>
dmd omim 在 Prenatal diagnosis for a Chinese family with a de novo DMD g... 的相關結果
... includes Duchenne muscular dystrophy (DMD, OMIM #310200) and Becker muscular dystrophy (BMD, OMIM #300376) with the incidences of 1 in 3600 and 1 in ... ... <看更多>
dmd omim 在 DMD and Duchenne/Becker Muscular Dystrophy - Otogenetics 的相關結果
The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily ... OMIM [DMD:310200] (http://www.ncbi.nlm.nih.gov/omim). ... <看更多>
dmd omim 在 Marked Hemiatrophy in Carriers of Duchenne Muscular ... 的相關結果
DNA sequencing of the 79 coding exons of the DMD gene (OMIM 300377) did not identify any point mutations, but MLPA analysis revealed a heterozygous ... ... <看更多>
dmd omim 在 Neuromuscular diseases / Neuropathies - SYNLAB ... 的相關結果
Muscular dystrophy type Duchenne/Becker (DMD/BMD) more information. OMIM: 300376, 310200. Gene: DMD, locus Xp21.2-Xp21.1; Inheritance: X-linked recessive ... ... <看更多>
dmd omim 在 Bioengineered in vitro skeletal muscles as new tools for ... 的相關結果
Duchenne muscular dystrophy (DMD) (OMIM #310200). Early childhood. XR (DMD; Entrez #1756). Proximal muscles. Myotonic dystrophies (DM). DM1 (OMIM #160900). ... <看更多>
dmd omim 在 Mutational profile of the dystrophin gene | TACG - Dove ... 的相關結果
Duchenne Muscular Dystrophy (DMD-OMIM #310200) and Becker Muscular ... The DMD gene encodes for a 427 kDa protein, called dystrophin, ... ... <看更多>
dmd omim 在 Duchenne Muscular Dystrophy - NORD (National Organization 的相關結果
Duchenne muscular dystrophy (DMD) is a rare muscle disorder but it is one of the most ... Available at: http://omim.org/entry/310200 Accessed June 21, 2016. ... <看更多>
dmd omim 在 Bioline International Official Site (site up-dated regularly) 的相關結果
Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular ... Duchenne muscular dystrophy (DMD; OMIM # 310200) is one of the most ... ... <看更多>
dmd omim 在 Echo cs 1201 price 的相關結果
... Installed,Insulation Work,Laminate Fl CS (OMIM code #218040) is a genetic ... O. The initial evidence for the involvement of PARP activity in DMD was ... ... <看更多>
dmd omim 在 310200 - MUSCULAR DYSTROPHY, DUCHENNE TYPE; DMD 的相關結果
The most distinctive feature of Duchenne muscular dystrophy is a progressive proximal muscular dystrophy with characteristic pseudohypertrophy of the calves. ... <看更多>