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Dyskeratosis congenita in all its forms

British journal of haematology, 2000-09, Vol.110 (4), p.768-779

Dokal, Inderjeet

2000

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Dyskeratosis congenita: a genetic disorder of many faces

Clinical genetics, 2008-02, Vol.73 (2), p.103-112

2008

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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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Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia

Leukemia, 2016-10, Vol.30 (10), p.2083-2086

2016

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

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

2016

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

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

2013

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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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X-linked dyskeratosis congenita presenting in adulthood with photodamaged skin and epiphora

Clinical and experimental dermatology, 2014-04, Vol.39 (3), p.310-314

2014

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Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2

Clinical genetics, 2012-01, Vol.81 (1), p.76-81

2012

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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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Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

British journal of haematology, 1999-11, Vol.107 (2), p.335-339

1999

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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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Dyskeratosis congenita

British journal of haematology, 1999-04, Vol.105 Suppl 1, p.11-15

Dokal, I

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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Inherited bone marrow failure syndromes

Haematologica (Roma), 2010-08, Vol.95 (8), p.1236-1240

2010

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

Bone marrow transplantation (Basingstoke), 2003-10, Vol.32 (7), p.653-656

2003

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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.344-350

DOKAL, I

1999

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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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Guidelines for the diagnosis and management of aplastic anaemia

British journal of haematology, 2009-10, Vol.147 (1), p.43-70

2009

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Heightened DNA damage response impairs hematopoiesis in Fanconi anemia

Haematologica (Roma), 2012-08, Vol.97 (8), p.1117-1117

Dokal, Inderjeet

2012

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Dyskeratosis congenita in all its forms

Dyskeratosis congenita: a genetic disorder of many faces

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

Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia

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

Dyskeratosis congenita. A disease of premature ageing

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

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

X-linked dyskeratosis congenita presenting in adulthood with photodamaged skin and epiphora

Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2

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

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

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

Outcome of 69 allogeneic stem cell transplantations for Fanconi anemia using HLA-matched unrelated donors : a study on behalf of the European Group for Blood and Marrow Transplantation

Dyskeratosis congenita

The genetics of Fanconi's anaemia

Inherited bone marrow failure syndromes

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

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

Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance

Guidelines for the diagnosis and management of aplastic anaemia

Heightened DNA damage response impairs hematopoiesis in Fanconi anemia

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