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Dyskeratosis congenita: The diverse clinical presentation of mutations in the telomerase complex

Biochimie, 2008, Vol.90 (1), p.122-130

2008

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Dyskeratosis congenita. A disease of premature ageing

The Lancet (British edition), 2001-12, Vol.358 Suppl, p.S27-S27

Dokal, I

2001

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A ribosome-related signature in peripheral blood CLL B cells is linked to reduced survival following treatment

Cell death & disease, 2016-06, Vol.7 (6), p.e2249-e2249

2016

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Effects of MSC co-injection on the reconstitution of aplastic anemia patient following hematopoietic stem cell transplantation

Leukemia, 2010-10, Vol.24 (10), p.1791-1795

2010

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Late death after unrelated-BMT for dyskeratosis congenita following conditioning with alemtuzumab, fludarabine and melphalan

Bone marrow transplantation (Basingstoke), 2007-11, Vol.40 (9), p.913-914

2007

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X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene

American journal of human genetics, 1999-07, Vol.65 (1), p.50-58

1999

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The genetics of Fanconi's anaemia

Bailliere's best practice & research. Clinical haematology, 2000-09, Vol.13 (3), p.407-425

Dokal, Inderjeet

2000

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Somatic Mosaicism in Fanconi Anemia: Molecular Basis and Clinical Significance

European journal of human genetics : EJHG, 1997-05, Vol.5 (3), p.137-148

1997

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Identification of novel DKC1 mutations in patients with dyskeratosis congenita : implications for pathophysiology and diagnosis

Human genetics, 2001-04, Vol.108 (4), p.299-303

2001

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Reduced-Intensity Conditioning Using Fludarabine and Antithymocyte Globulin Alone Allows Stable Engraftment in a Patient with Dyskeratosis Congenita

Acta haematologica, 2010-01, Vol.124 (4), p.200-203

2010

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Dyskeratosis congenita: recent advances and future directions

Journal of pediatric hematology/oncology, 1999-09, Vol.21 (5), p.344

Dokal, I

1999

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The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

Nature (London), 2001-09, Vol.413 (6854), p.432-435

2001

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Disseminated herpes virus (HSV-2) infection with rhabdomyolysis and hemophagocytic lymphohistiocytosis in a patient with bone marrow failure syndrome

Annals of hematology, 2006-09, Vol.85 (9), p.629-630

2006

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Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene

European journal of human genetics : EJHG, 1999-01, Vol.7 (1), p.52-59

1999

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X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

Nature genetics, 1998-05, Vol.19 (1), p.32-38

1998

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Very Short Telomeres in the Peripheral Blood of Patients with X-Linked and Autosomal Dyskeratosis Congenita

Blood cells, molecules, & diseases, 2001-03, Vol.27 (2), p.353-357

2001

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Engraftment of hematopoietic progenitor cells transduced with the Fanconi anemia group C gene (FANCC)

Human gene therapy, 1999-09, Vol.10 (14), p.2337-2346

1999

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Severe aplastic anemia including Fanconi's anemia and dyskeratosis congenita

Current opinion in hematology, 1996, Vol.3 (6), p.453-460

Dokal, I

1996

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Non-TBI stem cell transplantation protocol for Fanconi anaemia using HLA-compatible sibling and unrelated donors

Bone marrow transplantation (Basingstoke), 2004-07, Vol.34 (1), p.95-95

2004

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Detection of hereditary haemochromatosis in an HLA-identical pedigree showing discordance between HLA class I genes and the disease locus

Human genetics, 1991-12, Vol.88 (2), p.209-214

1991

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Disseminated herpes virus (HSV-2) infection with rhabdomyolysis and hemophagocytic lymphohistiocytosis in a patient with bone marrow failure syndrome

Annals of hematology, 2006, Vol.85 (9), p.629-630

2006

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Dyskeratosis congenita, stem cells and telomeres

Biochimica et biophysica acta, 2009-04, Vol.1792 (4), p.371-379

2009

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Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

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

2013

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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

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TGF-β Pathway Inhibition Signals New Hope for Fanconi Anemia

Cell stem cell, 2016-05, Vol.18 (5), p.567-568

2016

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Dyskeratosis congenita: The diverse clinical presentation of mutations in the telomerase complex

Dyskeratosis congenita. A disease of premature ageing

A ribosome-related signature in peripheral blood CLL B cells is linked to reduced survival following treatment

Effects of MSC co-injection on the reconstitution of aplastic anemia patient following hematopoietic stem cell transplantation

Late death after unrelated-BMT for dyskeratosis congenita following conditioning with alemtuzumab, fludarabine and melphalan

X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene

The genetics of Fanconi's anaemia

Somatic Mosaicism in Fanconi Anemia: Molecular Basis and Clinical Significance

Identification of novel DKC1 mutations in patients with dyskeratosis congenita : implications for pathophysiology and diagnosis

Reduced-Intensity Conditioning Using Fludarabine and Antithymocyte Globulin Alone Allows Stable Engraftment in a Patient with Dyskeratosis Congenita

Dyskeratosis congenita: recent advances and future directions

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

Disseminated herpes virus (HSV-2) infection with rhabdomyolysis and hemophagocytic lymphohistiocytosis in a patient with bone marrow failure syndrome

Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

Very Short Telomeres in the Peripheral Blood of Patients with X-Linked and Autosomal Dyskeratosis Congenita

Engraftment of hematopoietic progenitor cells transduced with the Fanconi anemia group C gene (FANCC)

Severe aplastic anemia including Fanconi's anemia and dyskeratosis congenita

Non-TBI stem cell transplantation protocol for Fanconi anaemia using HLA-compatible sibling and unrelated donors

Detection of hereditary haemochromatosis in an HLA-identical pedigree showing discordance between HLA class I genes and the disease locus

Disseminated herpes virus (HSV-2) infection with rhabdomyolysis and hemophagocytic lymphohistiocytosis in a patient with bone marrow failure syndrome

Dyskeratosis congenita, stem cells and telomeres

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

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

TGF-β Pathway Inhibition Signals New Hope for Fanconi Anemia

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