UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 39

Sortiert nach

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

American journal of human genetics, 2013-03, Vol.92 (3), p.448-453

2013

Volltextzugriff (PDF)

Advances in the understanding of dyskeratosis congenita

British journal of haematology, 2009-04, Vol.145 (2), p.164-172

2009

Volltextzugriff (PDF)

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation

American journal of human genetics, 2016-07, Vol.99 (1), p.115-124

2016

Volltextzugriff (PDF)

ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function

American journal of human genetics, 2014-02, Vol.94 (2), p.246-256

2014

Volltextzugriff (PDF)

Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia

American journal of human genetics, 2012-05, Vol.90 (5), p.888-892

2012

Volltextzugriff (PDF)

High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders

Human genetics, 2021-06, Vol.140 (6), p.945-955

2021

Volltextzugriff (PDF)

Mutations in the telomere capping complex in bone marrow failure and related syndromes

Haematologica (Roma), 2013-03, Vol.98 (3), p.334-338

2013

Volltextzugriff (PDF)

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

Haematologica (Roma), 2016-10, Vol.101 (10), p.1180

2016

Volltextzugriff (PDF)

Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia

Human mutation, 2009-11, Vol.30 (11), p.1567-1573

2009

Volltextzugriff (PDF)

Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies

Haematologica (Roma), 2017-08, Vol.102 (8), p.e293

2017

Volltextzugriff (PDF)

Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

Haematologica (Roma), 2012-04, Vol.97 (4), p.524-528

2012

Volltextzugriff (PDF)

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

Blood, 2008-11, Vol.112 (9), p.3594-3600

2008

Volltextzugriff (PDF)

Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4

Haematologica (Roma), 2014-07, Vol.99 (7), p.e109

2014

Volltextzugriff (PDF)

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome

Human molecular genetics, 2010-11, Vol.19 (22), p.4453-4461

2010

Volltextzugriff (PDF)

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

Human molecular genetics, 2007-07, Vol.16 (13), p.1619-1629

2007

Volltextzugriff (PDF)

A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure

Proceedings of the National Academy of Sciences - PNAS, 2020-07, Vol.117 (29), p.17151-17155

2020

Volltextzugriff (PDF)

Triallelic and epigenetic-like inheritance in human disorders of telomerase

Blood, 2015-07, Vol.126 (2), p.176-184

2015

Volltextzugriff (PDF)

Dyskeratosis Congenita: A historical perspective

Mechanisms of ageing and development, 2008, Vol.129 (1), p.48-59

2008

Volltextzugriff (PDF)

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita–like phenotypes

Blood, 2018-09, Vol.132 (12), p.1349-1353

2018

Volltextzugriff (PDF)

Dyskeratosis congenita : A disorder of defective telomere maintenance?

International journal of hematology, 2005-10, Vol.82 (3), p.184-189

2005

Volltextzugriff (PDF)

Long tails, short telomeres: Dyskeratosis congenita

Oncotarget, 2015-06, Vol.6 (16), p.13856-13857

2015

Volltextzugriff (PDF)

Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes

Blood advances, 2021-12, Vol.5 (23), p.5360-5371

2021

Volltextzugriff (PDF)

Dyskeratosis congenita and the DNA damage response

British journal of haematology, 2011-06, Vol.153 (5), p.634-643

2011

Volltextzugriff (PDF)

Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients

British journal of haematology, 2009-03, Vol.144 (5), p.771-781

2009

Volltextzugriff (PDF)

Circulating haematopoietic progenitors are differentially reduced amongst subtypes of dyskeratosis congenita

British journal of haematology, 2008-03, Vol.140 (6), p.719-722

2008

Volltextzugriff (PDF)

1 – 25 von 39

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(38)
Mit Volltextzugriff
(36)

Publikationsform

Artikel
(39)

Sprache

Englisch
(39)
Japanisch
(6)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

Advances in the understanding of dyskeratosis congenita

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation

ERCC6L2 Mutations Link a Distinct Bone-Marrow-Failure Syndrome to DNA Repair and Mitochondrial Function

Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia

High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders

Mutations in the telomere capping complex in bone marrow failure and related syndromes

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia

Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies

Exome sequencing identifies MPL as a causative gene in familial aplastic anemia

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

Targeted resequencing of 52 bone marrow failure genes in patients with aplastic anemia reveals an increased frequency of novel variants of unknown significance only in SLX4

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund–Thomson syndrome

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failure

Triallelic and epigenetic-like inheritance in human disorders of telomerase

Dyskeratosis Congenita: A historical perspective

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita–like phenotypes

Dyskeratosis congenita : A disorder of defective telomere maintenance?

Long tails, short telomeres: Dyskeratosis congenita

Genome-wide whole-blood transcriptome profiling across inherited bone marrow failure subtypes

Dyskeratosis congenita and the DNA damage response

Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients

Circulating haematopoietic progenitors are differentially reduced amongst subtypes of dyskeratosis congenita

Suchergebnisse filtern