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1

Bone marrow transplantation for β-thalassaemia major: the UK experience in two paediatric centres

Sarah E. Lawson, Irene A. G. Roberts, Persis Amrolia, Inderjeet Dokal, Richard Szydlo, Philip J. Darbyshire

Journal:

British Journal of Haematology

Year:

2003

Language:

english

File:

PDF, 111 KB

english, 2003

2

Understanding aplastic anaemia/bone-marrow failure syndromes

Momin Ahmed, Inderjeet Dokal

Journal:

Paediatrics and Child Health

Year:

2009

Language:

english

File:

PDF, 1.15 MB

english, 2009

3

Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome)

Hans Knoblauch, Cornelia Tennstedt, Wolfgang Brueck, Hannes Hammer, Tom Vulliamy, Inderjeet Dokal, Rüdiger Lehmann, Folker Hanefeld, Sigrid Tinschert

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 140 KB

english, 2003

4

Emberger syndrome—Primary lymphedema with myelodysplasia: Report of seven new cases

Sahar Mansour, Fiona Connell, Colin Steward, Pia Ostergaard, Glen Brice, Sarah Smithson, Peter Lunt, Steve Jeffery, Inderjeet Dokal, Tom Vulliamy, Brenda Gibson, Shirley Hodgson, Sally Cottrell, Louis

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 233 KB

english, 2010

5

Inherited aplastic anaemias/bone marrow failure syndromes

Inderjeet Dokal, Tom Vulliamy

Journal:

Year:

2008

Language:

english

File:

PDF, 192 KB

english, 2008

6

Dyskeratosis congenita: its link to telomerase and aplastic anaemia

Inderjeet Dokal, Tom Vulliamy

Journal:

Year:

2003

Language:

english

File:

PDF, 353 KB

english, 2003

7

Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome

Inderjeet Dokal, Simon Rule, Fred Chen, Mike Potter, John Goldman

Journal:

British Journal of Haematology

Year:

1997

Language:

english

File:

PDF, 241 KB

english, 1997

8

Chromosomal breakage analysis in dyskeratosis congenita peripheral blood lymphocytes

Stephanie Coulthard, Aandrew Chase, Julie Pickard, John Goldman, Inderjeet Dokal

Journal:

British Journal of Haematology

Year:

1998

Language:

english

File:

PDF, 235 KB

english, 1998

9

Dyskeratosis Congenita (DC) Registry: identification of new features of DC

Stuart Knight, Tom Vulliamy, Adrian Copplestone, Eliane Gluckman, Philip Mason, Inderjeet Dokal

Journal:

British Journal of Haematology

Year:

1998

Language:

english

File:

PDF, 612 KB

english, 1998

10

Dyskeratosis congenita in all its forms

Inderjeet Dokal

Journal:

British Journal of Haematology

Year:

2000

Language:

english

File:

PDF, 261 KB

english, 2000

11

Detection of implanted splenic tissue using 99m-Technetium-labelled heat-damaged autologous red cells

Josu De La Fuente, Michel Deenamode, Inderjeet Dokal

Journal:

British Journal of Haematology

Year:

2002

Language:

english

File:

PDF, 66 KB

english, 2002

12

A novel DKC1 mutation, severe combined immunodeficiency (T+B–NK– SCID) and bone marrow transplantation in an infant with Hoyeraal–Hreidarsson syndrome

Fausto Cossu, Tom J. Vulliamy, Anna Marrone, Manuela Badiali, Antonio Cao, Inderjeet Dokal

Journal:

British Journal of Haematology

Year:

2002

Language:

english

File:

PDF, 58 KB

english, 2002

13

A mutation in a functional Sp1 binding site of the telomerase RNA gene (hTERC) promoter in a patient with Paroxysmal Nocturnal Haemoglobinuria

W Nicol Keith, Tom Vulliamy, Jiangqin Zhao, Cem Ar, Can Erzik, Alan Bilsland, Birsen Ulku, Anna Marrone, Philip J Mason, Monica Bessler, Nedime Serakinci, Inderjeet Dokal

Journal:

BMC Blood Disorders

Year:

2004

Language:

english

File:

PDF, 1.27 MB

english, 2004

14

Dyskeratosis congenita: The first NIH clinical research workshop

Sharon A. Savage, Inderjeet Dokal, Mary Armanios, Geraldine Aubert, Edward W. Cowen, Demetrio L. Domingo, Neelam Giri, Mark H. Greene, Paul J. Orchard, Jakub Tolar, Ekaterini Tsilou, Carter Van Waes,

Journal:

Pediatric Blood & Cancer

Year:

2009

Language:

english

File:

PDF, 68 KB

english, 2009

15

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

Inderjeet Dokal, Deirdre Lord, David Rhodes, Graeme Bydder, Timothy Cox

Journal:

Year:

1991

Language:

english

File:

PDF, 1.25 MB

english, 1991

16

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome)

Yves Sznajer, Clarisse Baumann, Albert David, Hubert Journel, Didier Lacombe, Yves Perel, Pascale Blouin, Jean-François Segura, Jean-Pierre Cezard, Michel Peuchmaur, Tomy Vulliamy, Inderjeet Dokal, Al

Journal:

European Journal of Pediatrics

Year:

2003

Language:

english

File:

PDF, 317 KB

english, 2003

17

Ataxia and pancytopenia caused by a mutation in TINF2

Elena Tsangaris, Sally-Lin Adams, Grace Yoon, David Chitayat, Peter Lansdorp, Inderjeet Dokal, Yigal Dror

Journal:

Year:

2008

Language:

english

File:

PDF, 557 KB

english, 2008

18

Identification of novelDKC1mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis

Stuart Knight, Tom Vulliamy, Ben Morgan, Koen Devriendt, Philip Mason, Inderjeet Dokal

Journal:

Year:

2001

Language:

english

File:

PDF, 66 KB

english, 2001

19

Telomerase dysfunction and dyskeratosis congenita

Amanda J. Walne, Inderjeet Dokal

Journal:

Year:

2004

Language:

english

File:

PDF, 219 KB

english, 2004

20

Inherited bone marrow failure syndromes

Inderjeet Dokal

Journal:

Journal of Hematopathology

Year:

2011

Language:

english

File:

PDF, 243 KB

english, 2011

21

Fanconi anaemia and leukaemia – clinical and molecular aspects

Marc Tischkowitz, Inderjeet Dokal

Journal:

British Journal of Haematology

Year:

2004

Language:

english

File:

PDF, 285 KB

english, 2004

22

Circulating haematopoietic progenitors are differentially reduced amongst subtypes of dyskeratosis congenita

Michael Kirwan, Tom Vulliamy, Richard Beswick, Amanda J. Walne, Colin Casimir, Inderjeet Dokal

Journal:

British Journal of Haematology

Year:

2008

Language:

english

File:

PDF, 105 KB

english, 2008

23

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

Michael Kirwan, Richard Beswick, Tom Vulliamy, Amit C. Nathwani, Amanda J. Walne, Colin Casimir, Inderjeet Dokal

Journal:

British Journal of Haematology

Year:

2009

Language:

english

File:

PDF, 666 KB

english, 2009

24

Advances in the understanding of dyskeratosis congenita

Amanda J. Walne, Inderjeet Dokal

Journal:

British Journal of Haematology

Year:

2009

Language:

english

File:

PDF, 252 KB

english, 2009

25

Guidelines for the diagnosis and management of aplastic anaemia

Judith C. W. Marsh, Sarah E. Ball, Jamie Cavenagh, Phil Darbyshire, Inderjeet Dokal, Edward C. Gordon-Smith, Jane Keidan, Andrew Laurie, Anna Martin, Jane Mercieca, Sally B. Killick, Rhona Stewart, Jo

Journal:

British Journal of Haematology

Year:

2009

Language:

english

File:

PDF, 293 KB

english, 2009

26

Dyskeratosis congenita and the DNA damage response

Michael Kirwan, Richard Beswick, Amanda J. Walne, Upal Hossain, Colin Casimir, Tom Vulliamy, Inderjeet Dokal

Journal:

British Journal of Haematology

Year:

2011

Language:

english

File:

PDF, 544 KB

english, 2011

27

Dyskeratosis congenita: Advances in the understanding of the telomerase defect and the role of stem cell transplantation

Josu De La Fuente, Inderjeet Dokal

Journal:

Pediatric Transplantation

Year:

2007

Language:

english

File:

PDF, 634 KB

english, 2007

28

10.1038/35096585

Vulliamy, Tom, Marrone, Anna, Goldman, Frederick, Dearlove, Andrew, Bessler, Monica, Mason, Philip J., Dokal, Inderjeet

Journal:

Year:

2001

Language:

english

File:

PDF, 195 KB

english, 2001

29

Clinical utility gene card for: Dyskeratosis congenita

Dokal, Inderjeet, Vulliamy, Tom, Mason, Philip, Bessler, Monica

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 190 KB

english, 2011

30

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

Heiss, Nina S., Knight, Stuart W., Vulliamy, Tom J., Klauck, Sabine M., Wiemann, Stefan, Mason, Philip J., Poustka, Annemarie, Dokal, Inderjeet

Journal:

Nature Genetics

Year:

1998

File:

PDF, 1.32 MB

1998

31

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC

Vulliamy, Tom, Marrone, Anna, Szydlo, Richard, Walne, Amanda, Mason, Philip J, Dokal, Inderjeet

Journal:

Nature Genetics

Year:

2004

Language:

english

File:

PDF, 140 KB

english, 2004

32

A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M

Meetei, Amom Ruhikanta, Medhurst, Annette L, Ling, Chen, Xue, Yutong, Singh, Thiyam Ramsing, Bier, Patrick, Steltenpool, Jurgen, Stone, Stacie, Dokal, Inderjeet, Mathew, Christopher G

Journal:

Nature Genetics

Year:

2005

Language:

english

File:

PDF, 278 KB

english, 2005

33

Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice

He, Jun, Navarrete, Sandra, Jasinski, Murek, Vulliamy, Tom, Dokal, Inderjeet, Bessler, Monica, Mason, Philip J

Journal:

Year:

2002

Language:

english

File:

PDF, 276 KB

english, 2002

34

Total Deletion of in Vivo Telomere Elongation Capacity: An Ambitious but Possibly Ultimate Cure for All Age-Related Human Cancers

AUBREY D. N. J. DE GREY, F CHARLES CAMPBELL, INDERJEET DOKAL, LESLIE J. FAIRBAIRN, GERRY J. GRAHAM, COLIN A. B. JAHODA, ANDREW C. G. PORTERG

Journal:

Annals of the New York Academy of Sciences

Year:

2004

File:

PDF, 4.58 MB

2004

35

Dyskeratosis Congenita: A Disorder of Defective Telomere Maintenance?

Amanda J. Walne, Anna Marrone, Inderjeet Dokal

Journal:

International Journal of Hematology

Year:

2005

Language:

english

File:

PDF, 131 KB

english, 2005

36

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

Michael Kirwan, Amanda J. Walne, Vincent Plagnol, Mark Velangi, Aloysius Ho, Upal Hossain, Tom Vulliamy, Inderjeet Dokal

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 422 KB

english, 2012

37

Peripheral neuropathy—a novel finding in dyskeratosis congenita

Patrick Ip, Ravi Knight, Inderjeet Dokal, Adnan Y. Manzur, Francesco Muntoni

Journal:

European Journal of Paediatric Neurology

Year:

2005

Language:

english

File:

PDF, 129 KB

english, 2005

38

Dyskeratosis Congenita: A historical perspective

Amanda J. Walne, Inderjeet Dokal

Journal:

Mechanisms of Ageing and Development

Year:

2008

Language:

english

File:

PDF, 646 KB

english, 2008

39

The Inherited Bone Marrow Failure Syndromes: Fanconi Anemia, Dyskeratosis Congenita and Diamond-Blackfan Anemia

Inderjeet Dokal

Journal:

Reviews in Clinical and Experimental Hematology

Year:

2000

Language:

english

File:

PDF, 1.32 MB

english, 2000

40

Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia

Harriet Holme, Upal Hossain, Michael Kirwan, Amanda Walne, Tom Vulliamy, Inderjeet Dokal

Journal:

British Journal of Haematology

Year:

2012

Language:

english

File:

PDF, 263 KB

english, 2012

41

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

Tom J Vulliamy, Stuart W Knight, Philip J Mason, Inderjeet Dokal

Journal:

Blood Cells, Molecules, and Diseases

Year:

2001

Language:

english

File:

PDF, 127 KB

english, 2001

42

Dyskeratosis congenita, stem cells and telomeres

Michael Kirwan, Inderjeet Dokal

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2009

Language:

english

File:

PDF, 518 KB

english, 2009

43

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure

Tom J. Vulliamy, Amanda Walne, Aroon Baskaradas, Philip J. Mason, Anna Marrone, Inderjeet Dokal

Journal:

Blood Cells, Molecules, and Diseases

Year:

2005

Language:

english

File:

PDF, 272 KB

english, 2005

44

Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?

Elga F. Belligni, Inderjeet Dokal, Raoul C.M. Hennekam

Journal:

European Journal of Medical Genetics

Year:

2011

Language:

english

File:

PDF, 393 KB

english, 2011

45

Dyskeratosis congenita: telomerase, telomeres and anticipation

Anna Marrone, Amanda Walne, Inderjeet Dokal

Journal:

Current Opinion in Genetics & Development

Year:

2005

Language:

english

File:

PDF, 166 KB

english, 2005

46

A disease of premature ageing

Inderjeet Dokal

Journal:

Year:

2001

Language:

english

File:

PDF, 84 KB

english, 2001

47

Association between aplastic anaemia and mutations in telomerase RNA

Tom Vulliamy, Anna Marrone, Inderjeet Dokal, Philip J Mason

Journal:

Year:

2002

Language:

english

File:

PDF, 71 KB

english, 2002

48

Dyskeratosis Congenita

Tom Vulliamy, Inderjeet Dokal

Journal:

Seminars in Hematology

Year:

2006

Language:

english

File:

PDF, 259 KB

english, 2006

49

Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita

Deniz Aslan, Rustu F. Akata, Harriet Holme, Tom Vulliamy, Inderjeet Dokal

Journal:

International Ophthalmology

Year:

2012

Language:

english

File:

PDF, 317 KB

english, 2012

50

Dyskeratosis congenita: an inherited bone marrow failure syndrome

Inderjeet Dokal

Journal:

British Journal of Haematology

Year:

1996

Language:

english

File:

PDF, 151 KB

english, 1996