about
Drug treatment for myotoniaDrug treatment for myotoniaAnticipation in familial leukemiaMolecular genetics and genetic testing in myotonic dystrophy type 1.Paternal transmission and anticipation in schizophreniaComparison of the myotonic dystrophy associated CTG repeat in European and Japanese populationsPresymptomatic diagnosis of myotonic dystrophyThe natural history of congenital myotonic dystrophy: mortality and long term clinical aspectsFrench myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertionA case of paternally inherited congenital myotonic dystrophy.Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family.Anticipation in Swedish families with bipolar affective disorder.Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families.Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.Ascertainment of myotonic dystrophy through cataract by selective screening.A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathyDirect molecular analysis of myotonic dystrophy in the German population: important considerations in genetic counselling.Anticipation in schizophrenia: a review and reconsideration.Familial aggregation of inflammatory bowel disease in patients with ulcerative colitisOsteochondrodysplasia in Scottish Fold cats.Clinical heterogeneity of familial colorectal cancer and its influence on screening protocols.Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.Variation in age at ESRD in autosomal dominant polycystic kidney diseaseReproductive fitness in familial schizophrenia.Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).Anticipation in bipolar affective disorder.Anticipation in myotonic dystrophy: new light on an old problem.Anticipation or ascertainment bias in schizophrenia? Penrose's familial mental illness sample.Testing Liddle's three-syndrome model in families with schizophreniaParental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1.Penetrance and expressivity in the molecular age.Arrhythmias in the muscular dystrophies.Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophyFoci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues.Anticipation phenomenon in familial adenomatous polyposis:an analysis of its originBest practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.Allelic instability in mitosis: a unified model for dominant disordersIdentification and characterization of DM1 patients by a new diagnostic certified assay: neuromuscular and cardiac assessments.
P2860
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P2860
description
1989 nî lūn-bûn
@nan
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
1989年论文
@zh
1989年论文
@zh-cn
name
Anticipation in myotonic dystrophy: fact or fiction?
@en
type
label
Anticipation in myotonic dystrophy: fact or fiction?
@en
prefLabel
Anticipation in myotonic dystrophy: fact or fiction?
@en
P2093
P356
P1433
P1476
Anticipation in myotonic dystrophy: fact or fiction?
@en
P2093
Geraedts JP
Höweler CJ
Niermeijer MF
P304
P356
10.1093/BRAIN/112.3.779
P407
P478
112 ( Pt 3)
P577
1989-06-01T00:00:00Z