UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

Human molecular genetics, 1995-01, Vol.4 (1), p.1-8

1995

Volltextzugriff (PDF)

Frequency and stability of the myotonic dystrophy type 1 premutation

Neurology, 2001-02, Vol.56 (3), p.328-335

2001

Volltextzugriff (PDF)

Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects

Neurology, 2004-01, Vol.62 (2), p.269-274

2004

Volltextzugriff (PDF)

Complex gene conversion events in germline mutation at human minisatellites

Nature genetics, 1994-02, Vol.6 (2), p.136-145

1994

Volltextzugriff (PDF)

Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot–Marie–Tooth neuropathy and early hearing loss

Journal of neurology, neurosurgery and psychiatry, 2009-09, Vol.80 (9), p.1029-1035

2009

Volltextzugriff (PDF)

Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood

BMC medicine, 2022-11, Vol.20 (1), p.1-395, Article 395

2022

Volltextzugriff (PDF)

Cis-Acting Modifiers of Expanded CAG/CTG Triplet Repeat Expandability: Associations with Flanking GC Content and Proximity to CpG Islands

Human molecular genetics, 1999-06, Vol.8 (6), p.1061-1067

1999

Volltextzugriff (PDF)

Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability

Human molecular genetics, 2000-02, Vol.9 (3), p.439-445

2000

Volltextzugriff (PDF)

Mouse tissue culture models of unstable triplet repeats : in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates

Human molecular genetics, 2001-04, Vol.10 (8), p.845-854

2001

Volltextzugriff (PDF)

Progression of Somatic CTG Repeat Length Heterogeneity in the Blood Cells of Myotonic Dystrophy Patients

Human molecular genetics, 1998-02, Vol.7 (2), p.307-312

1998

Volltextzugriff (PDF)

Minisatellite repeat coding as a digital approach to DNA typing

Nature (London), 1991-11, Vol.354 (6350), p.204-209

1991

Volltextzugriff (PDF)

Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent

American journal of human genetics, 1995, Vol.56 (1), p.114-122

1995

Volltextzugriff (PDF)

Hypermutable myotonic dystrophy CTG repeats in transgenic mice

Nature genetics, 1997-02, Vol.15 (2), p.193-196

1997

Volltextzugriff (PDF)

Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism

Nature genetics, 1994-10, Vol.8 (2), p.162-170

1994

Volltextzugriff (PDF)

Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice

Human molecular genetics, 2003-01, Vol.12 (1), p.41-50

2003

Volltextzugriff (PDF)

Disease-associated CAG·CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion

Nucleic acids research, 2014-06, Vol.42 (11), p.7047-7056

2014

Volltextzugriff (PDF)

Unstable triplet repeat diseases

Circulation (New York, N.Y.), 1995-01, Vol.91 (2), p.513-520

1995

Volltextzugriff (PDF)

Estimating mutant microsatellite allele frequencies in somatic cells by small-pool PCR

Genomics (San Diego, Calif.), 2004-08, Vol.84 (2), p.419-430

2004

Volltextzugriff (PDF)

Chemical modifiers of unstable expanded simple sequence repeats: What goes up, could come down

Mutation research, 2006-06, Vol.598 (1), p.15-34

2006

Volltextzugriff (PDF)

Disease burden of myotonic dystrophy type 1

Journal of neurology, 2019-04, Vol.266 (4), p.998-1006

2019

Volltextzugriff (PDF)

Characterization and Genomic Mapping of Genes and Pseudogenes of a New Human Protein Tyrosine Phosphatase

Genomics (San Diego, Calif.), 1996-07, Vol.35 (1), p.172-181

1996

Volltextzugriff (PDF)

Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males

Human molecular genetics, 1999-12, Vol.8 (13), p.2473-2478

1999

Volltextzugriff (PDF)

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1

European journal of human genetics : EJHG, 2000-06, Vol.8 (6), p.423-430

2000

Volltextzugriff (PDF)

Change over time in ability to perform activities of daily living in myotonic dystrophy type 1

Journal of neurology, 2020-11, Vol.267 (11), p.3235-3242

2020

Volltextzugriff (PDF)

Activities of daily living in myotonic dystrophy type 1

Acta neurologica Scandinavica, 2020-05, Vol.141 (5), p.380-387

2020

Volltextzugriff (PDF)

1 – 25 von 83

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(79)
Mit Volltextzugriff
(69)

Publikationsform

Artikel
(83)

Sprache

Englisch
(83)

Erscheinungsjahr

n.n

Thema

Science & Technology
(62)
Life Sciences & Biomedicine
(59)
Humans
(57)
Biological And Medical Sciences
(34)
Genetics & Heredity
(30)
Male
(29)
Myotonic Dystrophy - Genetics
(22)
Alleles
(21)
Medical Sciences
(20)
Female
(19)
Polymerase Chain Reaction
(19)
Adult
(18)
Animals
(18)
Neurology
(18)
Neurosciences & Neurology
(18)
Biochemistry & Molecular Biology
(17)
Fundamental And Applied Biological Sciences. Psychology
(17)
Base Sequence
(15)
Myotonic Dystrophy
(15)
Clinical Neurology
(14)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses

Frequency and stability of the myotonic dystrophy type 1 premutation

Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects

Complex gene conversion events in germline mutation at human minisatellites

Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot–Marie–Tooth neuropathy and early hearing loss

Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood

Cis-Acting Modifiers of Expanded CAG/CTG Triplet Repeat Expandability: Associations with Flanking GC Content and Proximity to CpG Islands

Dramatic, expansion-biased, age-dependent, tissue-specific somatic mosaicism in a transgenic mouse model of triplet repeat instability

Mouse tissue culture models of unstable triplet repeats : in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates

Progression of Somatic CTG Repeat Length Heterogeneity in the Blood Cells of Myotonic Dystrophy Patients

Minisatellite repeat coding as a digital approach to DNA typing

Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent

Hypermutable myotonic dystrophy CTG repeats in transgenic mice

Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism

Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice

Disease-associated CAG·CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion

Unstable triplet repeat diseases

Estimating mutant microsatellite allele frequencies in somatic cells by small-pool PCR

Chemical modifiers of unstable expanded simple sequence repeats: What goes up, could come down

Disease burden of myotonic dystrophy type 1

Characterization and Genomic Mapping of Genes and Pseudogenes of a New Human Protein Tyrosine Phosphatase

Very large (CAG)(n) DNA repeat expansions in the sperm of two spinocerebellar ataxia type 7 males

Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1

Change over time in ability to perform activities of daily living in myotonic dystrophy type 1

Activities of daily living in myotonic dystrophy type 1

Suchergebnisse filtern