Identification of patients with classical and/or cryptic dyskeratosis congenita (DKC) by telomere length screening using different percentiles - results from the Aachen telomeropathy registry

被引：0

作者：

Beier, F. ^{[1
]}

Kirschner, M. ^{[1
]}

Bouillon, A-S ^{[1
]}

Halfmeyer, I ^{[1
]}

Ferreira, Ventura M. ^{[1
]}

Kricheldorf, K. ^{[1
]}

Maurer, A. ^{[1
]}

Wilop, S. ^{[1
]}

Thol, F. ^{[2
]}

Roeth, A. ^{[3
]}

Platzbecker, U. ^{[4
]}

Radsak, M. ^{[5
]}

Ayuk, F. A. ^{[6
]}

Corbacioglu, S. ^{[7
]}

Hoechsmann, B. ^{[8
]}

Wilk, C. M. ^{[9
]}

Hinze, C. ^{[10
]}

Chromik, J. ^{[11
]}

Egle, A. ^{[12
]}

Bittenbring, J. T. ^{[13
]}

Eggermann, T. ^{[14
]}

Kurth, I ^{[14
]}

Koschmieder, S. ^{[1
]}

Schemionek, M. ^{[1
]}

Isfort, S. ^{[1
]}

Panse, J. ^{[1
]}

Bruemmendorf, T. H. ^{[1
]}

机构：

[1] Uniklin RWTH Aachen, Klin Hamatol Onkol Hamostaseol & Stammzelltranspl, Aachen, Germany

[2] Hannover Med Sch, Klin Hamatol & Onkol, Hannover, Germany

[3] Univ Klinikum Essen, Klin Hamatol, Westdeutsch Tumorzentrum, Essen, Germany

[4] Univ Klinikum Carl Gustav Carus Dresden, Med Klin & Poliklin 1, Dresden, Germany

[5] Uniklinikum Mainz, Med Klin & Poliklin Hamatol Internist Onkol & Pne, Mainz, Germany

[6] Uniklinikum Hamburg, Klin Stammzelltransplantat, Hamburg, Germany

[7] Uniklinikum Regensburg, Padiat Hamatol Onkol & Stammzelltransplantat, Regensburg, Germany

[8] Uniklin Ulm, Transfus Med Zentrum Bayreuth Inst Klin Transfus, Ulm, Germany

[9] Univ Spital Zurich, Klin Hamatol, Zurich, Switzerland

[10] Uniklin Munster, Padiatr Klin Rheumatol & Immunol, Munster, Germany

[11] Uniklin Frankfurt, Klin Hamatol & Onkol, Frankfurt, Germany

[12] Uniklin Salzburg, Univ Klin Innere Med Hamatol Internist Onkol 3, Salzburg, Germany

[13] Uniklin Saarlandes, Klin Hamatol & Onkol, Homburg, Germany

[14] Uniklin Aachen, Inst Humangenet, Aachen, Germany

来源：

ONCOLOGY RESEARCH AND TREATMENT | 2018年 / 41卷

关键词：

D O I：

暂无

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

V382

引用

页码：126 / 127

页数：2

共 7 条

[1] TELOMERE LENGTH SCREENING TRIGGERED BY CLINICAL SUSPICION FOR CLASSICAL AND/OR CRYPTIC DYSKERATOSIS CONGENITA - PROSPECTIVE RESULTS FROM THE AACHEN TELOMEROPATHY REGISTRY
Beier, F.
Kirschner, M.
Bouillon, A. -S.
Halfmeyer, I.
Ferreira, M. S. Ventura
Maurer, A.
Wilop, S.
Thol, F.
Roeth, A.
Platzbecker, U.
Blau, W.
Ayuk, F. A.
Corbacioglu, S.
Schrezenmeier, H.
Manz, M. G.
Eggermann, T.
Zerres, K.
Koschmieder, S.
Schmemionek, M.
Isfort, S.
Panse, J.
Bruemmendorf, T. H.
HAEMATOLOGICA, 2017, 102 : 62 - 62
[2] Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria
Tometten, Mareike
Kirschner, Martin
Meyer, Robert
Begemann, Matthias
Halfmeyer, Insa
Vieri, Margherita
Kricheldorf, Kim
Maurer, Angela
Platzbecker, Uwe
Radsak, Markus
Schafhausen, Philippe
Corbacioglu, Selim
Hoechsmann, Britta
Wilk, C. Matthias
Hinze, Claas
Chromik, Joerg
Heuser, Michael
Kreuter, Michael
Koschmieder, Steffen
Panse, Jens
Isfort, Susanne
Kurth, Ingo
Bruemmendorf, Tim H.
Beier, Fabian
HEMASPHERE, 2023, 7 (05): : E874
[3] Heterozygous RTEL1 variants are associated with bone marrow failure in cryptic dyskeratosis congenita - first results from the Aachen telomere registry
Kirschner, M.
Bouillon, A. -S.
Ferreira, Ventura M.
Maurer, A.
Wilop, S.
Thol, F.
Roeth, A.
Platzbecker, U.
Blau, W.
Ayuk, F. A.
Corbacioglu, S.
Schrezenmeier, H.
Manz, M.
Ebel, L.
Koschmieder, S.
Schemionek, M.
Isfort, S.
Panse, J.
Brmmendorf, T. H.
Beier, F.
ONCOLOGY RESEARCH AND TREATMENT, 2017, 40 : 252 - 252
[4] Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry
Mareike Tometten
Martin Kirschner
Susanne Isfort
Marie-Luise Berres
Tim H. Brümmendorf
Fabian Beier
Orphanet Journal of Rare Diseases, 16
[5] Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry
Tometten, Mareike
Kirschner, Martin
Isfort, Susanne
Berres, Marie-Luise
Bruemmendorf, Tim H.
Beier, Fabian
ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)
[6] Clinical Presentation of Patients with Adult Late-Onset Telomere Biology Disorders - Results from the Aachen Telomeropathy Registry
Beier, Fabian
Tometten, Mareike
Kirschner, Martin
Halfmeyer, Insa
Vieri, Margherita
Kricheldorf, Kim
Maurer, Angela
Roeth, Alexander
Platzbecker, Uwe
Radsak, Markus P.
Schafhausen, Philippe
Corbacioglu, Selim
Hoechsmann, Britta
Wilk, C. Matthias
Hinze, Claas
Chromik, Joerg
Egle, Alexander
Heuser, Michael
Kreuter, Michael
Kurth, Ingo
Koschmieder, Steffen
Panse, Jens
Meyer, Robert
Isfort, Susanne
Brummendorf, Tim H.
BLOOD, 2021, 138
[7] Comparison of Fluorescence in Situ Hybridization and Flow Cytometry (Flow-FISH) with Monochrome Multiplex Quantitative Polymerase Chain Reaction (MM-qPCR) for Telomere Length Screening in Adult Patients with Suspected Cryptic Dyskeratosis Congenita (DKC)
Ferreira, Monica Sofia Ventura
Estrada, Natalia
Kirschner, Martin
Xicoy, Blanca
Bouillon, Anne-Sophie
Wilop, Stefan
Koschmieder, Steffen
Panse, Jens P.
Bruemmendorf, Tim H.
Beier, Fabian
BLOOD, 2018, 132

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