Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations - Wikidata - awgldk - TriplyDB

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

http://www.wikidata.org/entity/Q33593242

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Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders Genetic mosaics and the germ line lineage Mutation rates and the evolution of germline structure Multiple mutation in an extended Duchenne muscular dystrophy family.Reproductive fitness and frequency of new mutations in Becker muscular dystrophy: implications for genetic risk estimates Sex ratio of the mutation frequencies in haemophilia A: coagulation assays and RFLP analysis Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy.Estimate of germinal mosaicism in Duchenne muscular dystrophy.Recurrence risk for germinal mosaics revisited.Inversions in the factor VIII gene: improvement of carrier detection and prenatal diagnosis in Dutch haemophilia A families.Germline and somatic mosaicism in a female carrier of Hunter disease The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases.Identification of de novo mutations of Duchénnè/Becker muscular dystrophies in southern Spain.Somatic mosaicism in hemophilia A: a fairly common event.Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics.Risk assessment and genetic counseling in families with Duchenne muscular dystrophy.Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation Direct and indirect estimation of the sex ratio of mutation frequencies in hemophilia A Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers.Germinal mosaicism and risk calculation in X-linked diseases.Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother.Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.Recurrence risk of a new dominant mutation in children of unaffected parents Defining DNA diagnostic tests appropriate or standard clinical care High proportion of new mutations and possible anticipation in Brazilian facioscapulohumeral muscular dystrophy families Experience and strategy for the molecular testing of Duchenne muscular dystrophy.Somatic mosaicism in a patient with neurofibromatosis type 1.Novel compounds for the treatment of Duchenne muscular dystrophy: emerging therapeutic agents Carrier detection in Duchenne muscular dystrophy using molecular methods.Comparative Genomics of X-linked Muscular Dystrophies: The Golden Retriever Model Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I.Structure-Activity Relationship Studies of 3-epi-Deoxynegamycin Derivatives as Potent Readthrough Drug Candidates.Structure-Activity Relationship Study of Leucyl-3-epi-deoxynegamycin for Potent Premature Termination Codon Readthrough.

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P2860

Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations

http://www.wikidata.org/entity/Q33593242

description

1989 nî lūn-bûn

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1989 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած

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1989 թվականի սեպտեմբերին հրատարակված գիտական հոդված

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1989年の論文

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1989年論文

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1989年論文

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1989年論文

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1989年論文

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1989年論文

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1989年论文

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Germinal mosaicism increases t ...... e muscular dystrophy mutations

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Germinal mosaicism increases t ...... e muscular dystrophy mutations

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Journal of Medical Genetics

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Germinal mosaicism increases t ...... e muscular dystrophy mutations

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P2093

Bakker E

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Bonten EJ

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Den Dunnen JT

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Grootscholten PM

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Pearson PL

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Veenema H

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van Broeckhoven C

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van Ommen GJ

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P2860

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure.

Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene.

Recurrence risks for germinal mosaics.

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

Maternal duplication associated with gene deletion in sporadic hemophilia.

Gonadal mosaicism and genetic counseling for X-linked recessive lethals.

A somatic mosaic for haemophilia A detected at the DNA level.

A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male.

Germline mosaicism and Duchenne muscular dystrophy mutations

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2810338

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1015693

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