Tom J. VULLIAMY : rechercher sur Z-Library

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1

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

Rio-Machin, Ana, Vulliamy, Tom, Hug, Nele, Walne, Amanda, Tawana, Kiran, Cardoso, Shirleny, Ellison, Alicia, Pontikos, Nikolas, Wang, Jun, Tummala, Hemanth, Al Seraihi, Ahad Fahad H., Alnajar, Jenna,

Journal:

Nature Communications

Année:

2020

Langue:

english

Fichier:

PDF, 1.06 MB

english, 2020

2

G6PD Mediterranean accounts for the high prevalence of G6PD deficiency in Kurdish Jews

Ariella Oppenheim, Corrine L. Jury, Deborah Rund, Tom J. Vulliamy, Lucio Luzzatto

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 184 KB

english, 1993

3

Hematologically Important Mutations: Glucose-6-phosphate Dehydrogenase

Ernest Beutler, Tom J Vulliamy

Journal:

Blood Cells, Molecules, and Diseases

Année:

2002

Langue:

english

Fichier:

PDF, 57 KB

english, 2002

4

Tetanus toxin: A marker of amphibian neuronal differentiation in vitro

Vulliamy, Tom, Messenger, E.Angela

Journal:

Neuroscience Letters

Année:

1981

Langue:

english

Fichier:

PDF, 2.04 MB

english, 1981

5

Laboratory diagnosis of G6PD deficiency. A British Society for Haematology Guideline

Roper, David, Layton, Mark, Rees, David, Lambert, Chris, Vulliamy, Tom, De la Salle, Barbara, DâSouza, Carol

Journal:

British Journal of Haematology

Année:

2020

Langue:

english

Fichier:

PDF, 425 KB

english, 2020

6

Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase gene

Tom Vulliamy, Ana Rovira, Nazarah Yusoff, Dolors Colomer, Lucio Luzzatto, Joan-Luis Vives-Corrons

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 966 KB

english, 1996

7

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

Année:

2003

Langue:

english

Fichier:

PDF, 140 KB

english, 2003

8

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

Année:

2010

Langue:

english

Fichier:

PDF, 233 KB

english, 2010

9

Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene

Tom Vulliamy, Ernest Beutler, Lucio Luzzatto

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 762 KB

english, 1993

10

Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia

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, Mar

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 217 KB

english, 2009

11

Inherited aplastic anaemias/bone marrow failure syndromes

Inderjeet Dokal, Tom Vulliamy

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 192 KB

english, 2008

12

Dyskeratosis congenita: its link to telomerase and aplastic anaemia

Inderjeet Dokal, Tom Vulliamy

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 353 KB

english, 2003

13

Clinical and haematological consequences of recurrent G6PD mutations and a single new mutation causing chronic nonspherocytic haemolytic anaemia

Tom J. Vulliamy, Jaspal S. Kaeda, Dahlila Ait-Chafa, Rosa Mangerini, David Roper, Jose Barbot, Athul B. Mehta, Athanassiou-Metaxa, Lucio Luzzatto, Philip J. Mason

Journal:

British Journal of Haematology

Année:

1998

Langue:

english

Fichier:

PDF, 308 KB

english, 1998

14

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

Année:

1998

Langue:

english

Fichier:

PDF, 612 KB

english, 1998

15

Three major glucose-6-phosphate dehydrogenase-deficient polymorphic variants identified in Mazandaran state of Iran

Seyed A. Mesbah-Namin, Mohammad H. Sanati, Alireza Mowjoodi, Philip J. Mason, Tom J. Vulliamy, Mohammad R. Noori-Daloii

Journal:

British Journal of Haematology

Année:

2002

Langue:

english

Fichier:

PDF, 58 KB

english, 2002

16

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

Année:

2002

Langue:

english

Fichier:

PDF, 58 KB

english, 2002

17

Expression of Plasmodium falciparum G6PD-6PGL in laboratory parasites and in patient isolates in G6PD-deficient and normal Nigerian children

Olugbemiro Sodeinde, Julia L. Clarke, Tom J. Vulliamy, Lucio Luzzatto, Philip J. Mason

Journal:

British Journal of Haematology

Année:

2003

Langue:

english

Fichier:

PDF, 211 KB

english, 2003

18

Plasmodium falciparum glucose-6-phosphate dehydrogenase (G6PD) — the N-terminal portion is homologous to a predicted protein encoded near to G6PD in Haemophilus influenzae

Deborah A. Scopes, José M. Bautista, Tom J. Vulliamy, Philip J. Mason

Journal:

Molecular Microbiology

Année:

1997

Langue:

english

Fichier:

PDF, 558 KB

english, 1997

19

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

Année:

2004

Langue:

english

Fichier:

PDF, 1.27 MB

english, 2004

20

Genomic instability in Hoyeraal–Hreidarsson syndrome

Elvis Terci Valera, María Sol Brassesco, Pérsio Roxo Jr., Charles Marques Lourenço, Carlos Alberto Scrideli, Virginia Paes Ferriani, Luiz Gonzaga Tone, Tom Vulliamy, Elza Tiemi Sakamoto-Hojo

Journal:

Pediatric Blood & Cancer

Année:

2010

Langue:

english

Fichier:

PDF, 120 KB

english, 2010

21

APvuII restriction fragment length polymorphism of the glucose-6-phosphate dehydrogenase gene is an African-specific marker

Martin F. Fey, Jim S. Wainscoat, E. C. Mukwala, A. G. Falusi, Tom J. Vulliamy, Lucio Luzzatto

Journal:

Année:

1990

Langue:

english

Fichier:

PDF, 194 KB

english, 1990

22

At least five polymorphic mutants account for the prevalence of glucose-6-phosphate dehydrogenase deficiency in Algeria

Khedoudja Nafa, Abderrezak Reghis, Naima Osmani, Lamia Baghli, Hassen Aït-Abbes, Mohamed Benabadji, Jean-Claude Kaplan, Tom Vulliamy, Lucio Luzzatto

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 467 KB

english, 1994

23

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:

Année:

2001

Langue:

english

Fichier:

PDF, 66 KB

english, 2001

24

Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split

Marin Barišić, Jelena Korać, Ivana Pavlinac, Vjekoslav Krželj, Eugenija Marušić, Tom Vulliamy, Janoš Terzić

Journal:

Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 153 KB

english, 2005

25

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

Année:

2008

Langue:

english

Fichier:

PDF, 105 KB

english, 2008

26

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

Année:

2009

Langue:

english

Fichier:

PDF, 666 KB

english, 2009

27

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

Année:

2011

Langue:

english

Fichier:

PDF, 544 KB

english, 2011

28

Cell-surface antigen distinguishes sensory and autonomic peripheral neurones from central neurones

Vulliamy, Tom, Rattray, Stephanie, Mirsky, Rhona

Journal:

Année:

1981

Fichier:

PDF, 515 KB

1981

29

Deficiency in red blood cells

MACDONALD, DONALD, TOWN, MARGARET, MASON, PHILIP, VULLIAMY, TOM, LUZZATTO, Lucio, GOFF, D. K.

Journal:

Année:

1991

Fichier:

PDF, 141 KB

1991

30

10.1038/35096585

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

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 195 KB

english, 2001

31

Clinical utility gene card for: Dyskeratosis congenita

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

Journal:

European Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 190 KB

english, 2011

32

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

Année:

1998

Fichier:

PDF, 1.32 MB

1998

33

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

Année:

2004

Langue:

english

Fichier:

PDF, 140 KB

english, 2004

34

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:

Année:

2002

Langue:

english

Fichier:

PDF, 276 KB

english, 2002

35

Cloning of the glucose 6-phosphate dehydrogenase gene from Plasmodium f alciparum

Estella O'Brien, Buran Kurdi-Haidar, Wanchai Wanachiwanawin, Jose-Luis Carvajal, Tom J. Vulliamy, Marina Cappadoro, Philip J. Mason, Lucio Luzzatto

Journal:

Molecular and Biochemical Parasitology

Année:

1994

Langue:

english

Fichier:

PDF, 1.08 MB

english, 1994

36

The molecular basis of glucose-6-phosphate dehydrogenase deficiency

Tom Vulliamy, Philip Mason, Lucio Luzzatto

Journal:

Trends in Genetics

Année:

1992

Langue:

english

Fichier:

PDF, 757 KB

english, 1992

37

Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

Marjolijn C.J. Jongmans, Eugene T.P. Verwiel, Yvonne Heijdra, Tom Vulliamy, Eveline J. Kamping, Jayne Y. Hehir-Kwa, Ernie M.H.F. Bongers, Rolph Pfundt, Liesbeth van Emst, Frank N. van Leeuwen, Koen L.

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 1.06 MB

english, 2012

38

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

Année:

2012

Langue:

english

Fichier:

PDF, 422 KB

english, 2012

39

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

Année:

2012

Langue:

english

Fichier:

PDF, 263 KB

english, 2012

40

Non-lymphoid blast crisis of CML with rearrangement of immunoglobulin and T-cell receptor delta genes

Asad Bashey, Tom Vulliamy, Bi Su Cai, Anthony P. Schwarer, John M. Goldman

Journal:

European Journal of Haematology

Année:

1991

Langue:

english

Fichier:

PDF, 897 KB

english, 1991

41

The production of normal and variant human glucose-6-phosphate dehydrogenase in cos cells

Philip J. MASON, Tom J. VULLIAMY, Nicholas S. FOULKES, Margaret TOWN, Buran HAIDAR, Lucio LUZZATTO

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 450 KB

english, 1988

42

Hematologically Important Mutations: Glucose-6-Phosphate Dehydrogenase

Tom Vulliamy, Lucio Luzzatto, Akira Hirono, Ernest Beutler

Journal:

Blood Cells, Molecules, and Diseases

Année:

1997

Langue:

english

Fichier:

PDF, 88 KB

english, 1997

43

Hematologically Important Mutations: Glucose-6-phosphate Dehydrogenase

Ernest Beutler, Tom Vulliamy, Lucio Luzzatto

Journal:

Blood Cells, Molecules, and Diseases

Année:

1996

Langue:

english

Fichier:

PDF, 62 KB

english, 1996

44

Human Hexose-6-phosphate Dehydrogenase (Glucose 1-Dehydrogenase) Encoded at 1p36: Coding Sequence and Expression

Philip J. Mason, David Stevens, Amalia Diez, Stuart W. Knight, Deborah A. Scopes, Tom J. Vulliamy

Journal:

Blood Cells, Molecules, and Diseases

Année:

1999

Langue:

english

Fichier:

PDF, 170 KB

english, 1999

45

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

Année:

2001

Langue:

english

Fichier:

PDF, 127 KB

english, 2001

46

Organization of the Human Protein 4.1 Genomic Locus: New Insights into the Tissue-Specific Alternative Splicing of the Pre-mRNA

Faouzi Baklouti, Shu-Ching Huang, Tom J. Vulliamy, Jean Delaunay, Edward J. Benz Jr.

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 909 KB

english, 1997

47

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

Année:

2005

Langue:

english

Fichier:

PDF, 272 KB

english, 2005

48

Association between aplastic anaemia and mutations in telomerase RNA

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

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 71 KB

english, 2002

49

Combined glucose-6-phosphate dehydrogenase and glucosephosphate isomerase deficiency can alter clinical outcome

Julia L Clarke, Tom J Vulliamy, David Roper, Seyed A Mesbah-Namin, Barbara J Wild, James I Walker, Andrew M Will, Paula H Bolton-Maggs, Philip J Mason, D.Mark Layton

Journal:

Blood Cells, Molecules, and Diseases

Année:

2003

Langue:

english

Fichier:

PDF, 171 KB

english, 2003

50

Dyskeratosis Congenita

Tom Vulliamy, Inderjeet Dokal

Journal:

Seminars in Hematology

Année:

2006

Langue:

english

Fichier:

PDF, 259 KB

english, 2006