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Inderjeet Dokal

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Amanda Walne; Michael Kirwan; Vincent Plagnol; Tom Vulliamy; Inderjeet Dokal
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Christine Hilcenko; Li Jin; Michael Joseph Kirwan; Len C Packman; Adam Shlien; Paul J Simpson; Frank R Bowler; Peter Campbell; Mark J Churcher; Inderjeet Dokal; Andrew J Finch; Alan J Warren
Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia.
Deniz Aslan; Harriet Holme; Tom Vulliamy; Rustu F Akata; Inderjeet Dokal
Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita.

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All Publications

2013: Amanda Walne; Michael Kirwan; Vincent Plagnol; Tom Vulliamy; Inderjeet Dokal
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
American journal of human genetics 2013;92(3):448-53.
2013: Christine Hilcenko; Li Jin; Michael Joseph Kirwan; Len C Packman; Adam Shlien; Paul J Simpson; Frank R Bowler; Peter Campbell; Mark J Churcher; Inderjeet Dokal; Andrew J Finch; Alan J Warren
Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia.
Blood 2013;121(6):1028-38.
2012: Deniz Aslan; Harriet Holme; Tom Vulliamy; Rustu F Akata; Inderjeet Dokal
Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita.
International ophthalmology 2012;32(6):615-22.
2012: Inderjeet Dokal
Heightened DNA damage response impairs hematopoiesis in Fanconi anemia.
Haematologica 2012;97(8):1117.
2012: Harriet Holme; Upal Hossain; Michael Kirwan; Tom Vulliamy; Amanda Walne; Inderjeet Dokal
Marked genetic heterogeneity in familial myelodysplasia/acute myeloid leukaemia.
British journal of haematology 2012;158(2):242-8.
2012: Michael Kirwan; Vincent Plagnol; Mark Velangi; Tom Vulliamy; Amanda Walne; Aloysius Ho; Upal Hossain; Inderjeet Dokal
Exome sequencing identifies autosomal-dominant SRP72 mutations associated with familial aplasia and myelodysplasia.
American journal of human genetics 2012;90(5):888-92.
2012: Amanda Walne; Michael Kirwan; Vincent Plagnol; Tom Vulliamy; Richard Beswick; Josu de la Fuente; Arran Dokal; Inderjeet Dokal
Exome sequencing identifies MPL as a causative gene in familial aplastic anemia.
Haematologica 2012;97(4):524-8.
2012: Marjolijn Jongmans; Eveline J Kamping; Ernie M H F Bongers; Inderjeet Dokal; Ad Geurts van Kessel; Jayne Hehir-Kwa; Yvonne Heijdra; Nicoline Hoogerbrugge; Marjolijn J L Ligtenberg; Rolph Pfundt; Liesbeth van Emst; Koen L I van Gassen; Frank van Leeuwen; Eugene T P Verwiel; Tom Vulliamy; Roland P Kuiper
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.
American journal of human genetics 2012;90(3):426-33.
2011: Inderjeet Dokal; Philip Mason; Tom Vulliamy; Monica Bessler
Clinical utility gene card for: dyskeratosis congenita.
European journal of human genetics : EJHG 2011;19(11):.
2011: Michael Kirwan; Richard Beswick; Amanda J Walne; Upal Hossain; Colin Casimir; Tom Vulliamy; Inderjeet Dokal
Dyskeratosis congenita and the DNA damage response.
British journal of haematology 2011;153(5):634-43.
2011: Elga F Belligni; Inderjeet Dokal; Raoul C M Hennekam
Prenatal and postnatal growth retardation, microcephaly, developmental delay, and pigmentation abnormalities: Naegeli syndrome, dyskeratosis congenita, poikiloderma Clericuzio type, or separate entity?
European journal of medical genetics 2011;54(3):231-5.
2011: Tom Vulliamy; Amanda Walne; Charlotte Baqai; Richard Beswick; Upal Hossain; Michael Kirwan; Judith Marsh; Anna Ratcliffe; Inderjeet Dokal
Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.
PloS one 2011;6(9):e24383.
2010: Amanda J Walne; Tom Vulliamy; Richard Beswick; Michael Joseph Kirwan; Inderjeet Dokal
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;19(22):4453-61.
2010: 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; Louise Kiely; Lorna Tinworth; Kamini Kalidas; Ghulam Mufti; Jackie Cornish; Russell Keenan; Peter Mortimer; Victoria Murday
Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases.
American journal of medical genetics. Part A 2010;152A(9):2287-96.
2010: Inderjeet Dokal; Tom Vulliamy
Inherited bone marrow failure syndromes.
Haematologica 2010;95(8):1236-40.
2009: Beth Ashbridge; Angel Orte; Justin A Yeoman; Michael Joseph Kirwan; Tom Vulliamy; Inderjeet Dokal; David Klenerman; Shankar Balasubramanian
Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations.
Biochemistry 2009;48(46):10858-65.
2009: Vicky Rowena Breakey; M Stephen Meyn; Vicky Ng; Christopher Allen; Inderjeet Dokal; Peter M Lansdorp; Oussama Abla; Yigal Dror
Hepatitis-associated aplastic anemia presenting as a familial bone marrow failure syndrome.
Journal of pediatric hematology/oncology 2009;31(11):884-7.
2009: Michael Kirwan; Tom Vulliamy; Anna Marrone; Amanda J Walne; Richard Beswick; Peter Hillmen; Richard Kelly; Andrew Stewart; David Bowen; Stefan O Schonland; Annika Maria Whittle; Anthony McVerry; Maria Gilleece; Inderjeet Dokal
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia.
Human mutation 2009;30(11):1567-73.
2009: 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; John A L Yin
Guidelines for the diagnosis and management of aplastic anaemia.
British journal of haematology 2009;147(1):43-70.
2009: Ingo Borggraefe; Sibylle Koletzko; Tina Arenz; Monika Fuehrer; Florian Hoffmann; Inderjeet Dokal; Tom Vulliamy; Véronique Weiler; Matthias Griese; Bernd H Belohradsky; Thomas Lang
Severe variant of x-linked dyskeratosis congenita (Hoyeraal-Hreidarsson Syndrome) causes significant enterocolitis in early infancy.
Journal of pediatric gastroenterology and nutrition 2009;49(3):359-63.
2009: 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; Judy M Y Wong; Neal S Young; BLANCHE ALTER
Dyskeratosis congenita: the first NIH clinical research workshop.
Pediatric blood & cancer 2009;53(3):520-3.
2009: Michael Kirwan; Inderjeet Dokal
Dyskeratosis congenita, stem cells and telomeres.
Biochimica et biophysica acta 2009;1792(4):371-9.
2009: Amanda J Walne; Inderjeet Dokal
Advances in the understanding of dyskeratosis congenita.
British journal of haematology 2009;145(2):164-72.
2009: Michael Kirwan; Richard Beswick; Tom Vulliamy; Amit C Nathwani; Amanda J Walne; Colin Casimir; Inderjeet Dokal
Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients.
British journal of haematology 2009;144(5):771-81.
2008: Elena Tsangaris; Sally-Lin Adams; Grace Yoon; David Chitayat; Peter Lansdorp; Inderjeet Dokal; Yigal Dror
Ataxia and pancytopenia caused by a mutation in TINF2.
Human genetics 2008;124(5):507-13.
2008: Amanda J Walne; Tom Vulliamy; Richard Beswick; Michael Kirwan; Inderjeet Dokal
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;112(9):3594-600.
2008: Tom Vulliamy; Richard Beswick; Michael Kirwan; Anna Marrone; Martin Digweed; Amanda Walne; Inderjeet Dokal
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(23):8073-8.
2008: Lina Basel-Vanagaite; Inderjeet Dokal; Hannah Tamary; Abraham Avigdor; Ben Zion Garty; Alexander Volkov; Tom Vulliamy
Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations.
Haematologica 2008;93(6):943-4.
2008: Inderjeet Dokal; Tom Vulliamy
Inherited aplastic anaemias/bone marrow failure syndromes.
Blood reviews 2008;22(3):141-53.
2008: Inderjeet Dokal
Fanconi anemia is a highly penetrant cancer susceptibility syndrome.
Haematologica 2008;93(4):486-8.
2008: Michael Kirwan; Tom Vulliamy; Richard Beswick; Amanda J Walne; Colin Casimir; Inderjeet Dokal
Circulating haematopoietic progenitors are differentially reduced amongst subtypes of dyskeratosis congenita.
British journal of haematology 2008;140(6):719-22.
2008: Michael Kirwan; Inderjeet Dokal
Dyskeratosis congenita: a genetic disorder of many faces.
Clinical genetics 2008;73(2):103-12.
2008: Amanda Walne; Inderjeet Dokal
Dyskeratosis Congenita: a historical perspective.
Mechanisms of ageing and development 2008;129(1-2):48-59.
2008: Tom Vulliamy; Inderjeet Dokal
Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex.
Biochimie 2008;90(1):122-30.
2007: Anna Marrone; Amanda Walne; Hannah Tamary; Yuka Masunari; Michael Kirwan; Richard Beswick; Tom Vulliamy; Inderjeet Dokal
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.
Blood 2007;110(13):4198-205.
2007: Josu de la Fuente; Inderjeet Dokal
Dyskeratosis congenita: advances in the understanding of the telomerase defect and the role of stem cell transplantation.
Pediatric transplantation 2007;11(6):584-94.
2007: Anna Marrone; Priya Sokhal; Amanda Walne; Richard Beswick; Michael Kirwan; Sally Killick; Mike Williams; Judith Marsh; Tom Vulliamy; Inderjeet Dokal
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.
Haematologica 2007;92(8):1013-20.
2007: Amanda Walne; Tom Vulliamy; Anna Marrone; Richard Beswick; Michael Kirwan; Yuka Masunari; Fat-hia Al-Qurashi; Mahmoud Aljurf; Inderjeet Dokal
Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10.
Human molecular genetics 2007;16(13):1619-29.
2007: Fiona J Plunkett; Ornella Franzese; Helene M Finney; Jean M Fletcher; Lavina L Belaramani; Mike Salmon; Inderjeet Dokal; David Webster; Alastair D G Lawson; Arne N Akbar
The loss of telomerase activity in highly differentiated CD8+CD28-CD27- T cells is associated with decreased Akt (Ser473) phosphorylation.
Journal of immunology (Baltimore, Md. : 1950) 2007;178(12):7710-9.
2006: Tom Vulliamy; Inderjeet Dokal
Dyskeratosis congenita.
Seminars in hematology 2006;43(3):157-66.
2006: Tom Vulliamy; Anna Marrone; Stuart W Knight; Amanda Walne; Philip J Mason; Inderjeet Dokal
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.
Blood 2006;107(7):2680-5.
2006: Inderjeet Dokal
Fanconi's anaemia and related bone marrow failure syndromes.
British medical bulletin 2006;77-78():37-53.
2005: Amanda Walne; Anna Marrone; Inderjeet Dokal
Dyskeratosis congenita: a disorder of defective telomere maintenance?
International journal of hematology 2005;82(3):184-9.
2005: Amom Ruhikanta Meetei; Annette L Medhurst; Chen Ling; Yutong Xue; Thiyam Ramsing Singh; Patrick Bier; Jûrgen Steltenpool; Stacie Stone; Inderjeet Dokal; Christopher G Mathew; Maureen Hoatlin; Hans Joenje; Johan P de Winter; Weidong Wang
A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.
Nature genetics 2005;37(9):958-63.
2005: Anna Marrone; Amanda Walne; Inderjeet Dokal
Dyskeratosis congenita: telomerase, telomeres and anticipation.
Current opinion in genetics & development 2005;15(3):249-57.
2005: Tom Vulliamy; Amanda Walne; Aroon Baskaradas; Philip J Mason; Anna Marrone; Inderjeet Dokal
Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
Blood cells, molecules & diseases 2005;34(3):257-63.
2005: S Pancham; C Hemmaway; H New; E Albert; Inderjeet Dokal; Irene A G Roberts; Mary P McCloy
Caspofungin for invasive fungal infections: combination treatment with liposomal amphotericin B in children undergoing hemopoietic stem cell transplantation.
Pediatric transplantation 2005;9(2):254-7.
2005: Patrick Ip; Ravi Knight; Inderjeet Dokal; Adnan Y Manzur; Francesco Muntoni
Peripheral neuropathy--a novel finding in dyskeratosis congenita.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2005;9(2):85-9.
2004: Anna Marrone; Inderjeet Dokal
Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.
Expert reviews in molecular medicine 2004;6(26):1-23.
2004: Anna Marrone; David Stevens; Tom Vulliamy; Inderjeet Dokal; Philip J Mason
Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency.
Blood 2004;104(13):3936-42.
2004: Marc Tischkowitz; Inderjeet Dokal
Fanconi anaemia and leukaemia - clinical and molecular aspects.
British journal of haematology 2004;126(2):176-91.
2004: Amanda Walne; Inderjeet Dokal
Telomerase dysfunction and dyskeratosis congenita.
Cytotechnology 2004;45(1-2):13-22.
2004: 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
Total deletion of in vivo telomere elongation capacity: an ambitious but possibly ultimate cure for all age-related human cancers.
Annals of the New York Academy of Sciences 2004;1019():147-70.
2004: Tom Vulliamy; Anna Marrone; Richard Szydlo; Amanda Walne; Philip J Mason; Inderjeet Dokal
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.
Nature genetics 2004;36(5):447-9.
2004: Alex J Tipping; Tom Vulliamy; Neil V Morgan; Inderjeet Dokal
Molecular diagnosis of Fanconi anemia and dyskeratosis congenita.
Methods in molecular medicine 2004;91():3-17.
2003: Yves Sznajer; Clarisse Baumann; Albert David; Hubert Journel; Didier Lacombe; Yves Perel; Pascale Blouin; Jean-François Segura; Jean-Pierre Cezard; Michel Peuchmaur; Tom Vulliamy; Inderjeet Dokal; Alain Verloes
Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).
European journal of pediatrics 2003;162(12):863-7.
2003: Inderjeet Dokal; Tom Vulliamy
Dyskeratosis congenita: its link to telomerase and aplastic anaemia.
Blood reviews 2003;17(4):217-25.
2003: J de la Fuente; S Reiss; Mary P McCloy; Tom Vulliamy; Irene A G Roberts; Amin Rahemtulla; Inderjeet Dokal
Non-TBI stem cell transplantation protocol for Fanconi anaemia using HLA-compatible sibling and unrelated donors.
Bone marrow transplantation 2003;32(7):653-6.
2003: Hans Knoblauch; Cornelia Tennstedt; Wolfgang Brueck; Hannes Hammer; Tom Vulliamy; Inderjeet Dokal; Rüdiger Lehmann; Folker Hanefeld; Sigrid Tinschert
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome).
American journal of medical genetics. Part A 2003;120A(2):261-5.
2003: Inderjeet Dokal
Inherited aplastic anaemia.
The hematology journal : the official journal of the European Haematology Association / EHA 2003;4(1):3-9.
2003: Sarah E Lawson; Irene A G Roberts; Persis J Amrolia; Inderjeet Dokal; Richard Szydlo; Philip J Darbyshire
Bone marrow transplantation for beta-thalassaemia major: the UK experience in two paediatric centres.
British journal of haematology 2003;120(2):289-95.
2002: Fausto Cossu; Tom Vulliamy; Anna Marrone; Manuela Badiali; Antonio Cao; Inderjeet Dokal
A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.
British journal of haematology 2002;119(3):765-8.
2002: Jun He; Sandra Navarrete; Murek Jasinski; Tom Vulliamy; Inderjeet Dokal; Monica Bessler; Philip J Mason
Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice.
Oncogene 2002;21(50):7740-4.
2002: Josu de la Fuente; Michel Deenamode; Inderjeet Dokal
Detection of implanted splenic tissue using 99m-Technetium-labelled heat-damaged autologous red cells.
British journal of haematology 2002;118(1):2.
2002: Tom Vulliamy; Anna Marrone; Inderjeet Dokal; Philip J Mason
Association between aplastic anaemia and mutations in telomerase RNA.
Lancet 2002;359(9324):2168-70.
2001: Inderjeet Dokal
Dyskeratosis congenita. A disease of premature ageing.
Lancet 2001;358 Suppl():S27.
2001: Tom Vulliamy; Anna Marrone; Frederick D Goldman; A Dearlove; Monica Bessler; Philip J Mason; Inderjeet Dokal
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita.
Nature 2001;413(6854):432-5.
2001: Persis J Amrolia; Tom Vulliamy; G Vassiliou; Sarah Lawson; J Bryon; Jaspal Kaeda; Inderjeet Dokal; R Johnston; Paul Veys; Philip J Darbyshire; Irene A G Roberts
Analysis of chimaerism in thalassaemic children undergoing stem cell transplantation.
British journal of haematology 2001;114(1):219-25.
2001: Stuart W Knight; Tom Vulliamy; B Morgan; koenraad devriendt; Philip J Mason; Inderjeet Dokal
Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis.
Human genetics 2001;108(4):299-303.
2001: Tom Vulliamy; Stuart W Knight; Philip J Mason; Inderjeet Dokal
Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita.
Blood cells, molecules & diseases 2001;27(2):353-7.
2001: Mary P McCloy; A Almeida; P Daly; Tom Vulliamy; Irene A G Roberts; Inderjeet Dokal
Fludarabine-based stem cell transplantation protocol for Fanconi's anaemia in myelodysplastic transformation.
British journal of haematology 2001;112(2):427-9.
2000: L Faivre; Philippe Guardiola; C Lewis; Inderjeet Dokal; Wolfram Ebell; Adriana Zatterale; Cigdem Altay; Janet Poole; David Stones; Mei Lan Kwee; M van Weel-Sipman; C Havenga; N Morgan; Johan P de Winter; Martin Digweed; Anna Savoia; J Pronk; T J L de Ravel; Stander Jansen; Hans Joenje; Eliane Gluckman; Christopher G Mathew
Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.
Blood 2000;96(13):4064-70.
2000: Inderjeet Dokal
Dyskeratosis congenita in all its forms.
British journal of haematology 2000;110(4):768-79.
2000: Inderjeet Dokal
The genetics of Fanconi's anaemia.
Baillière's best practice & research. Clinical haematology 2000;13(3):407-25.
2000: Philippe Guardiola; Ricardo Pasquini; Inderjeet Dokal; JJ Ortega; M van Weel-Sipman; Judith C W Marsh; Sarah E Ball; Franco Locatelli; Christiane Vermylen; R Skinner; Per Ljungman; Roberto Miniero; Peter Shaw; G Souillet; Mauricette Michallet; Albert Bekassy; G Krivan; Paolo Di Bartolomeo; C Heilmann; Luigi Zanesco; Jean-Yves Cahn; William Arcese; Andrea Bacigalupo; Eliane Gluckman
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.
Blood 2000;95(2):422-9.
1999: Stuart W Knight; Nina S Heiss; Tom Vulliamy; C M Aalfs; C McMahon; P Richmond; A Jones; Raoul Hennekam; Annemarie Poustka; Philip J Mason; Inderjeet Dokal
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.
British journal of haematology 1999;107(2):335-9.
1999: Inderjeet Dokal
Dyskeratosis congenita: recent advances and future directions.
Journal of pediatric hematology/oncology 1999;21(5):344-50.
1999: Tom Vulliamy; Stuart W Knight; Nina S Heiss; O P Smith; Annemarie Poustka; Inderjeet Dokal; Philip J Mason
Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier.
Blood 1999;94(4):1254-60.
1999: Stephen B Marley; John L Lewis; R John Davidson; Irene A G Roberts; Inderjeet Dokal; John M Goldman; Myrtle Y Gordon
Evidence for a continuous decline in haemopoietic cell function from birth: application to evaluating bone marrow failure in children.
British journal of haematology 1999;106(1):162-6.
1999: Stuart W Knight; Nina S Heiss; Tom Vulliamy; S Greschner; G Stavrides; G Shashidhar Pai; Gilles G Lestringant; N Varma; Philip J Mason; Inderjeet Dokal; Annemarie Poustka
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
American journal of human genetics 1999;65(1):50-8.
1999: Inderjeet Dokal
Dyskeratosis congenita.
British journal of haematology 1999;105 Suppl 1():11-5.
1999: M Wijker; Neil V Morgan; Sabine Herterich; Carola G M van Berkel; Alex J Tipping; Hans J Gross; Johan J P Gille; Gerard Pals; Maria Savino; Cigdem Altay; S Mohan; Inderjeet Dokal; J Cavenagh; Judith Marsh; M van Weel; JJ Ortega; D Schuler; E Samochatova; M Karwacki; Albert Bekassy; M Abecasis; Wolfram Ebell; Mei Lan Kwee; T J L de Ravel
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.
European journal of human genetics : EJHG 1999;7(1):52-9.
1998: S Knight; Tom Vulliamy; A Copplestone; E Gluckman; P Mason; Inderjeet Dokal
Dyskeratosis Congenita (DC) Registry: identification of new features of DC.
British journal of haematology 1998;103(4):990-6.
1998: Stuart W Knight; Tom Vulliamy; Nina S Heiss; G Matthijs; koenraad devriendt; J M Connor; Michele D'Urso; Annemarie Poustka; Philip J Mason; Inderjeet Dokal
1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis.
Journal of medical genetics 1998;35(12):993-6.
1998: S Coulthard; Andrew Chase; J Pickard; J Goldman; Inderjeet Dokal
Chromosomal breakage analysis in dyskeratosis congenita peripheral blood lymphocytes.
British journal of haematology 1998;102(5):1162-4.
1998: Nina S Heiss; Stuart W Knight; Tom Vulliamy; Sabine M Klauck; Stefan Wiemann; Philip J Mason; Annemarie Poustka; Inderjeet Dokal
X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.
Nature genetics 1998;19(1):32-8.
1998: Philippe Guardiola; Gérard Socié; Ricardo Pasquini; Inderjeet Dokal; JJ Ortega; M van Weel-Sipman; Judith Marsh; Franco Locatelli; G Souillet; Jean-Yves Cahn; Per Ljungman; Roberto Miniero; J Shaw; Christiane Vermylen; Eric Archimbaud; Albert Bekassy; G Krivan; Paolo Di Bartolomeo; Andrea Bacigalupo; Eliane Gluckman
Allogeneic stem cell transplantation for Fanconi Anaemia. Severe Aplastic Anaemia Working Party of the EBMT and EUFAR. European Group for Blood and Marrow Transplantation.
Bone marrow transplantation 1998;21 Suppl 2():S24-7.
1998: C Dufour; J Maher; N Murray; M Manning; Inderjeet Dokal; L Luzzatto; Irene A G Roberts
An unusual case of familial aplastic anaemia: in vitro and in vivo evidence for a multipotent progenitor responsive to G-CSF.
European journal of haematology 1998;60(3):209-12.
1998: J O'Donnell; John M Goldman; K Wagner; G Ehinger; N Martin; M Leahy; N Kariuki; Inderjeet Dokal; I Roberts
Donor-derived Plasmodium vivax infection following volunteer unrelated bone marrow transplantation.
Bone marrow transplantation 1998;21(3):313-4.
1997: Inderjeet Dokal; SA Rule; F Chen; M Potter; J Goldman
Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome.
British journal of haematology 1997;99(1):171-3.
1997: Tom Vulliamy; Stuart W Knight; Inderjeet Dokal; Philip J Mason
Skewed X-inactivation in carriers of X-linked dyskeratosis congenita.
Blood 1997;90(6):2213-6.
1997: James O'Donnell; I Roberts; J De la Fuente; P Daly; H New; Inderjeet Dokal
Successful second bone marrow transplant for Fanconi's anaemia following escalation of conditioning.
British journal of haematology 1997;98(3):772-4.
1997: J R Lo Ten Foe; Mei Lan Kwee; Martin A Rooimans; Anneke B Oostra; A J Veerman; M van Weel; R M Pauli; N T Shahidi; Inderjeet Dokal; I Roberts; Cigdem Altay; Eliane Gluckman; Robert Alan Gibson; Christopher G Mathew; Fré Arwert; Hans Joenje
Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance.
European journal of human genetics : EJHG 1997;5(3):137-48.
1996: Stuart W Knight; Tom Vulliamy; G L Forni; D Oscier; Philip J Mason; Inderjeet Dokal
Fine mapping of the dyskeratosis congenita locus in Xq28.
Journal of medical genetics 1996;33(12):993-5.
1996: Inderjeet Dokal
Severe aplastic anemia including Fanconi's anemia and dyskeratosis congenita.
Current opinion in hematology 1996;3(6):453-60.
1996: Inderjeet Dokal; I A Roberts
Bone marrow transplantation for Fanconi's anaemia: conditioning with reduced doses of cyclophosphamide without radiation.
British journal of haematology 1996;94(2):423.
1996: Inderjeet Dokal; Andrew Chase; Neil V Morgan; S Coulthard; G Hall; Christopher G Mathew; I Roberts
Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group C mutations.
British journal of haematology 1996;93(4):813-6.
1996: Inderjeet Dokal
Dyskeratosis congenita: an inherited bone marrow failure syndrome.
British journal of haematology 1996;92(4):775-9.
1996: Robert Alan Gibson; Neil V Morgan; L H Goldstein; I C Pearson; I P Kesterton; N J Foot; S Jansen; C Havenga; T Pearson; T J de Ravel; R J Cohn; I M Marques; Inderjeet Dokal; I Roberts; Judith Marsh; S Ball; R D Milner; J C Llerena; E Samochatova; S P Mohan; P Vasudevan; F Birjandi; A Hajianpour; M Murer-Orlando; Christopher G Mathew
Novel mutations and polymorphisms in the Fanconi anemia group C gene.
Human mutation 1996;8(2):140-8.
1994: Inderjeet Dokal; Lucio Luzzatto
Dyskeratosis congenita is a chromosomal instability disorder.
Leukemia & lymphoma 1994;15(1-2):1-7.
1992: Inderjeet Dokal; J Bungey; P Williamson; D Oscier; J Hows; Lucio Luzzatto
Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements.
Blood 1992;80(12):3090-6.
1991: Inderjeet Dokal; D Lord; D Rhodes; G Bydder; T Cox
Detection of hereditary haemochromatosis in an HLA-identical pedigree showing discordance between HLA class I genes and the disease locus.
Human genetics 1991;88(2):209-14.
1990: Inderjeet Dokal; T M Cox; D A Galton
Vitamin B-12 and folate deficiency presenting as leukaemia.
BMJ (Clinical research ed.) 1990;300(6734):1263-4.
1990: Inderjeet Dokal; M Deenmamode; S M Lewis
Detection and functional assessment of accessory splenic tissue (splenunculi) with radiolabelled heat damaged autologous erythrocytes.
Clinical and laboratory haematology 1990;12(4):387-93.
1989: Inderjeet Dokal; P Ganly; I Riebero; J Marsh; A Steed; J Kendra; C Drysdale; J Hows
Late onset bone marrow failure associated with proximal fusion of radius and ulna: a new syndrome.
British journal of haematology 1989;71(2):277-80.
1989: Inderjeet Dokal; A Pagliuca; M Deenmamode; G J Mufti; S M Lewis
Development of polycythaemia vera in a patient with myelofibrosis.
European journal of haematology 1989;42(1):96-8.
1989: Inderjeet Dokal; M Deenmamode; S M Lewis
Radioisotope studies in monitoring of Gaucher's disease and its treatment.
Clinical and laboratory haematology 1989;11(2):91-6.
1989: Inderjeet Dokal; L Jones; M Deenmamode; S M Lewis; John M Goldman
Allogeneic bone marrow transplantation for primary myelofibrosis.
British journal of haematology 1989;71(1):158-60.
1989: Inderjeet Dokal; A Bradshaw; A Stoneham; S Bowcock; R Coombs; D Royston; K Taylor; J Hows
Major surgery in von Willebrand's disease.
Clinical and laboratory haematology 1989;11(3):205-11.