Tom J Vulliamy: search on 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

Year:

2020

Language:

english

File:

PDF, 1.06 MB

english, 2020

2

Tetanus toxin: A marker of amphibian neuronal differentiation in vitro

Vulliamy, Tom, Messenger, E.Angela

Journal:

Neuroscience Letters

Year:

1981

Language:

english

File:

PDF, 2.04 MB

english, 1981

3

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

Year:

2020

Language:

english

File:

PDF, 425 KB

english, 2020

4

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:

Year:

1993

Language:

english

File:

PDF, 184 KB

english, 1993

5

Hematologically Important Mutations: Glucose-6-phosphate Dehydrogenase

Ernest Beutler, Tom J Vulliamy

Journal:

Blood Cells, Molecules, and Diseases

Year:

2002

Language:

english

File:

PDF, 57 KB

english, 2002

6

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

7

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

Year:

1999

Language:

english

File:

PDF, 170 KB

english, 1999

8

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

9

Single-Molecule Analysis of the Human Telomerase RNA·Dyskerin Interaction and the Effect of Dyskeratosis Congenita Mutations

Ashbridge, Beth, Orte, Angel, Yeoman, Justin A., Kirwan, Michael, Vulliamy, Tom, Dokal, Inderjeet, Klenerman, David, Balasubramanian, Shankar

Journal:

Year:

2009

Language:

english

File:

PDF, 2.32 MB

english, 2009

10

Dyskeratosis Congenita

Tom Vulliamy, Inderjeet Dokal

Journal:

Seminars in Hematology

Year:

2006

Language:

english

File:

PDF, 259 KB

english, 2006

11

A T CELL CLONE IN ASSOCIATION WITH AN EPSTEIN-BARR VIRUS-RELATED B CELL LYMPHOMA

FRANKEL, ANDREW H., THOMPSON, MARY, VULLIAMY, TOM, WILLIAMS, GORDON, THOMAS, J. ALERO, CRAWFORD, DOROTHY H., REES, ANDREW J., LECHLER, ROBERT

Journal:

Transplantation Journal

Year:

1991

File:

PDF, 496 KB

1991

12

DNA ligase IV deficiency: Immunoglobulin class deficiency depends on the genotype

Dard, Rodolphe, Herve, Bérénice, Leblanc, Thierry, de Villartay, Jean-Pierre, Collopy, Laura, Vulliami, Tom, Drunat, Severine, Gorde, Stephanie, Babik, Abel, Souchon, Pierre-François, Agadr, Aomar, Ab

Journal:

Pediatric Allergy and Immunology

Year:

2017

Language:

english

File:

PDF, 670 KB

english, 2017

13

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data

Pontikos, Nikolas, Yu, Jing, Moghul, Ismail, Withington, Lucy, Blanco-Kelly, Fiona, Vulliamy, Tom, Wong, Tsz Lun Ernest, Murphy, Cian, Cipriani, Valentina, Fiorentino, Alessia, Arno, Gavin, Greene, Da

Journal:

Year:

2017

Language:

english

File:

PDF, 207 KB

english, 2017

14

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

Year:

1997

Language:

english

File:

PDF, 558 KB

english, 1997

15

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

16

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

17

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

Year:

2003

Language:

english

File:

PDF, 171 KB

english, 2003

18

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

Year:

1998

Language:

english

File:

PDF, 308 KB

english, 1998

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

Year:

2004

Language:

english

File:

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

Year:

2010

Language:

english

File:

PDF, 120 KB

english, 2010

21

The molecular basis of glucose-6-phosphate dehydrogenase deficiency

Tom Vulliamy, Philip Mason, Lucio Luzzatto

Journal:

Trends in Genetics

Year:

1992

Language:

english

File:

PDF, 757 KB

english, 1992

22

Isolation of human glucose-6-phosphate dehydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5′ non-coding region

Persico, M. Graziella, Viglietto, Giuseppe, Martini, Giuseppe, Toniolo, Daniela, Paonessa, Giacomo, Moscatelli, Claudio, Dono, Rosanna, Vulliamy, Tom, Luzzatto, Lucio, D'Urso, Michele

Journal:

Nucleic Acids Research

Year:

1986

File:

PDF, 47 KB

1986

23

Isolation of human glucose-6-pbosphate debydrogenase (G6PD) cDNA clones: primary structure of the protein and unusual 5' non-coding region

Persico, M.Graziella, Viglietto, Giuseppe, Martini, Giuseppe, Toniolo, Daniela, Paonessa, Giacomo, Moscatelli, Claudio, Dono, Rosanna, Vulliamy, Tom, Luzzatto, Lucio, D'Urso, Michele

Journal:

Nucleic Acids Research

Year:

1986

Language:

english

File:

PDF, 740 KB

english, 1986

24

DKC1 mutation causing different phenotypes in a family with X-linked Hoyeraal-Hreidarsson syndrome

Boufleur, Karine, Scrideli, Carlos Alberto, Valera, Elvis, Tone, Luiz, Vulliamy, Tom, Arruda, L Karla, Roxo Jr, Persio

Journal:

World Allergy Organization Journal

Year:

2015

Language:

english

File:

PDF, 189 KB

english, 2015

25

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

26

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

27

In-vitro analysis of the effects of TA65 and danazol on the proliferation and telomerase activity of T lymphocytes in bone marrow failure syndromes

Collins, Janine, Tummala, Hemanth, Collopy, Laura, Vulliamy, Tom, Dokal, Inderjeet

Journal:

Year:

2016

Language:

english

File:

PDF, 60 KB

english, 2016

28

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

Year:

2005

Language:

english

File:

PDF, 153 KB

english, 2005

29

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

Vulliamy, Tom, Rattray, Stephanie, Mirsky, Rhona

Journal:

Year:

1981

File:

PDF, 515 KB

1981

30

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

31

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:

Year:

1990

Language:

english

File:

PDF, 194 KB

english, 1990

32

Retinal vasculopathy in autosomal dominant dyskeratosis congenita due to TINF2 mutation

Gleeson, Mary, O'Marcaigh, Aengus, Cotter, Melanie, Brosnahan, Donal, Vulliamy, Tom, Smith, Owen P.

Journal:

British Journal of Haematology

Year:

2012

Language:

english

File:

PDF, 128 KB

english, 2012

33

Clinical utility gene card for: Dyskeratosis congenita – update 2015

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

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 196 KB

english, 2015

34

Dyskeratosis congenita: its link to telomerase and aplastic anaemia

Inderjeet Dokal, Tom Vulliamy

Journal:

Year:

2003

Language:

english

File:

PDF, 353 KB

english, 2003

35

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

36

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:

Year:

1997

Language:

english

File:

PDF, 909 KB

english, 1997

37

Molecular Characterization of G6PD Deficiency in Oman

Daar, Shahina, Vulliamy, Tom J., Kaeda, Jaspal, Mason, Philip J., Luzzatto, Lucio

Journal:

Year:

1996

File:

PDF, 894 KB

1996

38

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

Year:

1991

Language:

english

File:

PDF, 897 KB

english, 1991

39

Hematologically Important Mutations: Glucose-6-phosphate Dehydrogenase

Ernest Beutler, Tom Vulliamy, Lucio Luzzatto

Journal:

Blood Cells, Molecules, and Diseases

Year:

1996

Language:

english

File:

PDF, 62 KB

english, 1996

40

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

41

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:

Year:

1994

Language:

english

File:

PDF, 467 KB

english, 1994

42

DNA Genotypic Conservation During Phenotypic Switch from T-cell Acute Lymphoblastic Leukaemia to Acute Myeloblastic Leukaemia

Scott, Colin Stephen, Vulliamy, Tom, Catcevsky, Daniel, Matutes, Estela, Norfolk, Derek R.

Journal:

Leukemia and Lymphoma

Year:

1989

Language:

english

File:

PDF, 1.36 MB

english, 1989

43

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

44

Haematological recovery in dyskeratosis congenita patients treated with danazol

Islam, Amin, Rafiq, Shafquat, Kirwan, Mike, Walne, Amanda, Cavenagh, Jamie, Vulliamy, Tom, Dokal, Inderjeet

Journal:

British Journal of Haematology

Year:

2013

Language:

english

File:

PDF, 149 KB

english, 2013

45

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

46

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

47

Glucose-6-phosphate dehydrogenase deficiency

Atul Mehta, Philip J. Mason, Tom J. Vulliamy

Journal:

Best Practice & Research Clinical Haematology

Year:

2000

Language:

english

File:

PDF, 350 KB

english, 2000

48

Severe Variant of X-linked Dyskeratosis Congenita (Hoyeraal-Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy

Borggraefe, Ingo, Koletzko, Sibylle, Arenz, Tina, Fuehrer, Monika, Hoffmann, Florian, Dokal, Inderjeet, Vulliamy, Tom, Weiler, Véronique, Griese, Matthias, Belohradsky, Bernd H, Lang, Thomas

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2009

Language:

english

File:

PDF, 855 KB

english, 2009

49

Urinary prostanoids in preschool wheeze

Grigg, Jonathan, Whitehouse, Abigail, Pandya, Hitesh, Turner, Stephen, Griffiths, Christopher J., Vulliamy, Tom, T. Walton, Robert, Price, David B., Sanak, Marek, Holloway, John W., Noimark, Lee, Leso

Journal:

European Respiratory Journal

Year:

2017

Language:

english

File:

PDF, 436 KB

english, 2017

50

Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease

Walne, Amanda, Tummala, Hemanth, Ellison, Alicia, Cardoso, Shirleny, Sidhu, Jasmin, Sciuccati, Gabriela, Vulliamy, Tom, Dokal, Inderjeet

Journal:

Year:

2018

Language:

english

File:

PDF, 1007 KB

english, 2018

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