T. Cullup: search on Z-Library

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1

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

Verity McClelland, Thomas Cullup, Istvan Bodi, Deborah Ruddy, Anna Buj-Bello, Valerie Biancalana, J. Boehm, Marc Bitoun, Owen Miller, Wajanat Jan, Esse Menson, Luis Amaya, John Trounce, Jocelyn Laport

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 194 KB

english, 2010

2

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

Cullup, Thomas, Kho, Ay Lin, Dionisi-Vici, Carlo, Brandmeier, Birgit, Smith, Frances, Urry, Zoe, Simpson, Michael A, Yau, Shu, Bertini, Enrico, McClelland, Verity, Al-Owain, Mohammed, Koelker, Stefan,

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 1.17 MB

english, 2012

3

Clinical utility gene card for: Vici Syndrome

Cullup, Thomas, Dionisi-Vici, Carlo, Kho, Ay L, Yau, Shu, Mohammed, Shehla, Gautel, Mathias, Jungbluth, Heinz

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 197 KB

english, 2014

4

Reply: Aberrant splicing induced by the most common EPG5 mutation in an individual with Vici syndrome

Byrne, Susan, Cullup, Thomas, Fanto, Manolis, Gautel, Mathias, Jungbluth, Heinz

Journal:

Year:

2016

Language:

english

File:

PDF, 173 KB

english, 2016

5

EPG5 -related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G. W., Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohamme

Journal:

Year:

2016

Language:

english

File:

PDF, 1.49 MB

english, 2016

6

Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation

McCreary, Dara, Omoyinmi, Ebun, Hong, Ying, Mulhern, Ciara, Papadopoulou, Charalampia, Casimir, Marina, Hacohen, Yael, Nyanhete, Rodney, Ahlfors, Helena, Cullup, Thomas, Lim, Ming, Gilmour, Kimberly,

Journal:

JAMA Network Open

Year:

2019

Language:

english

File:

PDF, 2.19 MB

english, 2019

7

RYR1 mutations are a common cause of congenital myopathies with central nuclei

J.M. Wilmshurst, S. Lillis, H. Zhou, K. Pillay, H. Henderson, W. Kress, C.R. Müller, A. Ndondo, V. Cloke, T. Cullup, E. Bertini, C. Boennemann, V. Straub, R. Quinlivan, J.J. Dowling, S. Al- Sarraj, S.

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 500 KB

english, 2010

8

P61 The spectrum of genetic defects responsible for congenital fibre type disproportion

L. Feng, R. Phadke, H. Jungbluth, S. Lillis, T. Cullup, D. Chambers, S. Abbs, F. Muntoni, C. Sewry

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 43 KB

english, 2011

9

INFUSION OF ALLOGENEIC MESENCHYMAL STROMAL CELLS CAN DELAY BUT NOT PREVENT GVHD AFTER MURINE TRANSPLANTATION

Kambouris, M, Turner, B, Sinfield, L, Cullup, H, Hart, D, Atkinson, K, Rice, A

Journal:

Transplantation Journal

Year:

2008

Language:

english

File:

PDF, 72 KB

english, 2008

10

SAT0010 A Targeted Next-Generation Sequencing Gene Panel for Autoinflammation

Omoyinmi, E., Standing, A., Keylock, A., Rowczenio, D., Melo Gomes, S., Cullup, T., Jenkins, L., Gilmour, K., Eleftheriou, D., Lachmann, H., Hawkins, P., Klein, N., Brogan, P.

Journal:

Annals of the Rheumatic Diseases

Year:

2016

Language:

english

File:

PDF, 65 KB

english, 2016

11

X-linked myotubular myopathy due to a complex rearrangement involving a duplication of MTM1 exon 10

N. Trump, T. Cullup, J.B.G.M. Verheij, A. Manzur, F. Muntoni, S. Abbs, H. Jungbluth

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 268 KB

english, 2012

12

G.P.214

Hu, Y., Donkervoot, S., Stojkovic, T., Voermans, N., Foley, A.R., Leach, M., Dastgir, J., Bolduc, V., Cullup, T., Becdelièvre, A., Yang, L., Su, H., Meilleur, K., Schindler, A., Kamsteeg, E., Richard,

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 47 KB

english, 2014

13

Environmental factors and not genotype influence the plasma level of interleukin-1 receptor antagonist in normal individuals

H. CULLUP, P. G. MIDDLETON, G. DUGGAN, J. S. CONN, A. M. DICKINSON

Journal:

Clinical & Experimental Immunology

Year:

2004

Language:

english

File:

PDF, 138 KB

english, 2004

14

Vitamin D receptor gene polymorphism associates with graft-versus-host disease and survival in HLA-matched sibling allogeneic bone marrow transplantation

Middleton, P G, Cullup, H, Dickinson, A M, Norden, J, Jackson, G H, Taylor, P R A, Cavet, J

Journal:

Bone Marrow Transplantation

Year:

2002

Language:

english

File:

PDF, 104 KB

english, 2002

15

A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly

Ishida, M., Cullup, T., Boustred, C., James, C., Docker, J., English, C., GOSgene,, Lench, N., Copp, A.J., Moore, G.E., Greene, N.D.E., Stanier, P.

Journal:

Clinical Genetics

Year:

2017

Language:

english

File:

PDF, 1.27 MB

english, 2017

16

Autosomal dominant mitochondrial membrane protein‐associated neurodegeneration (MPAN)

Gregory, Allison, Lotia, Mitesh, Jeong, Suh Young, Fox, Rachel, Zhen, Dolly, Sanford, Lynn, Hamada, Jeff, Jahic, Amir, Beetz, Christian, Freed, Alison, Kurian, Manju A., Cullup, Thomas, van der Weijde

Journal:

Molecular Genetics & Genomic Medicine

Year:

2019

File:

PDF, 882 KB

2019

17

P3.38 X-linked myotubular myopathy due to a complex rearrangement involving exon 10 of the myotubularin (MTM1) gene

N. Trump, T. Cullup, F. Muntoni, J. Verheij, H. Jungbluth

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 47 KB

english, 2011

18

Environmental conditions are important for establishing and evaluating pre-clinical models of GVHD

Christensen, M E, Sinfield, L J, Cullup, H, Waterhouse, N J, Atkinson, K, Rice, A M

Journal:

Bone Marrow Transplantation

Year:

2012

Language:

english

File:

PDF, 216 KB

english, 2012

19

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis

A.C. Thomas, C. Sinclair, N. Mahmud, T. Cullup, J.E. Mellerio, J. Harper, B.A. Dale, C. Turc-Carel, D. Hohl, J.A. McGrath, A. Vahlquist, M. Hellstrom-Pigg, A. Ganemo, K. Metcalfe, C.A. Mein, E.A O’Too

Journal:

British Journal of Dermatology

Year:

2008

Language:

english

File:

PDF, 112 KB

english, 2008

20

Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation

Heinz Jungbluth, Tom Cullup, Suzanne Lillis, Haiyan Zhou, Stephen Abbs, Caroline Sewry, Francesco Muntoni

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 303 KB

english, 2010

21

Mutations in ABCA12 Underlie the Severe Congenital Skin Disease Harlequin Ichthyosis

P. David Kelsell, E. Elizabeth Norgett, Harriet Unsworth, Muy-Teck Teh, Thomas Cullup, Charles A. Mein, J. Patricia Dopping-Hepenstal, A. Beverly Dale, Gianluca Tadini, Philip Fleckman, G. Karen Steph

Journal:

The American Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 3.06 MB

english, 2005

22

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

Fassad, Mahmoud R., Patel, Mitali P., Shoemark, Amelia, Cullup, Thomas, Hayward, Jane, Dixon, Mellisa, Rogers, Andrew V., Ollosson, Sarah, Jackson, Claire, Goggin, Patricia, Hirst, Robert A., Rutman,

Journal:

Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 931 KB

english, 2019

23

Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11

Shoemark, Amelia, Burgoyne, Thomas, Kwan, Robert, Dixon, Mellisa, Patel, Mitali P., Rogers, Andrew V., Onoufriadis, Alexandros, Scully, Juliet, Daudvohra, Farheen, Cullup, Thomas, Loebinger, Michael R

Journal:

European Respiratory Journal

Year:

2018

Language:

english

File:

PDF, 1.08 MB

english, 2018

24

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

Fassad, Mahmoud R., Shoemark, Amelia, le Borgne, Pierrick, Koll, France, Patel, Mitali, Dixon, Mellisa, Hayward, Jane, Richardson, Charlotte, Frost, Emily, Jenkins, Lucy, Cullup, Thomas, Chung, Eddie

Journal:

The American Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 3.24 MB

english, 2018

25

Oestrogen receptor α gene polymorphism associates with occurrence of graft-versus-host disease and reduced survival in HLA-matched sib-allo BMT

Middleton, P G, Norden, J, Cullup, H, Cavet, J, Jackson, G H, Taylor, P R A, Dickinson, A M

Journal:

Bone Marrow Transplantation

Year:

2003

Language:

english

File:

PDF, 148 KB

english, 2003

26

Antibody to the dendritic cell surface activation antigen CD83 prevents acute graft-versus-host disease

Wilson, J., Cullup, H., Lourie, R., Sheng, Y., Palkova, A., Radford, K. J., Dickinson, A. M., Rice, A. M., Hart, D. N.J., Munster, D. J.

Journal:

Journal of Experimental Medicine

Year:

2009

Language:

english

File:

PDF, 1.52 MB

english, 2009

27

Graham, R. (1998). Taking each other seriously: Experiences in learning and teaching. Durham: Fieldhouse Press/University of Durham School of Education. ISBN 0 903380 84 6.

Cullup, Michael

Journal:

International Journal of Education and Religion

Year:

2000

File:

PDF, 1.07 MB

2000

28

Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

Yassin,, D’Arco,, Morín,, Pagarkar,, Harrop-Griffiths,, Shaida,, Fernández,, Cullup,, De-Souza,, Moreno-Pelayo,, Bitner-Glindzicz,

Journal:

Year:

2019

Language:

english

File:

PDF, 10.67 MB

english, 2019

29

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

Fassad, Mahmoud R., Patel, Mitali P., Shoemark, Amelia, Cullup, Thomas, Hayward, Jane, Dixon, Mellisa, Rogers, Andrew V., Ollosson, Sarah, Jackson, Claire, Goggin, Patricia, Hirst, Robert A., Rutman,

Journal:

Journal of Medical Genetics

Year:

2019

File:

PDF, 931 KB

2019

30

P87 Nebulin mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

M. Scoto, T. Cullup, S. Cirak, M. Yau, L. Feng, A. Manzur, H. Jungbluth, S. Abbs, C. Sewry, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

31

Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom

Maggi, L., Scoto, M., Cirak, S., Robb, S.A., Klein, A., Lillis, S., Cullup, T., Feng, L., Manzur, A.Y., Sewry, C.A., Abbs, S., Jungbluth, H., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 462 KB

english, 2013

32

Antibody to the dendritic cell surface activation antigen CD83 prevents acute graft-versus-host disease

Wilson, J., Cullup, H., Lourie, R., Sheng, Y., Palkova, A., Radford, K. J., Dickinson, A. M., Rice, A. M., Hart, D. N.J., Munster, D. J.

Journal:

Journal of Experimental Medicine

Year:

2009

Language:

english

File:

PDF, 837 KB

english, 2009

33

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia

Fassad, Mahmoud R., Shoman, Walaa I., Morsy, Heba, Patel, Mitali P., Radwan, Nesrine, Jenkins, Lucy, Cullup, Thomas, Fouda, Eman, Mitchison, Hannah M., Fasseeh, Nader

Journal:

Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 1.87 MB

english, 2019

34

A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia

Menzies, Lara, Cullup, Tom, Calder, Alistair, Wilson, Louise, Faravelli, Francesca

Journal:

Clinical Dysmorphology

Year:

2019

File:

PDF, 313 KB

2019

35

1FC2.5 Recessive mutations in the skeletal muscle ryanodine receptor (RYR1) gene may mimick X-linked centronuclear (myotubular) myopathy (XLMTM)

A.D. Gika, S. Lillis, T. Cullup, I. Bodi, P. Manta, R. Pons, E. Yatrakou, K. Karachristou, M. Tzeti, S. Youroukos, F. Muntoni, S. Abbs, H. Jungbluth

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 38 KB

english, 2011

36

P3.45 Muscle pathology in a large cohort of cases with SEPN1 mutations

L.H. Feng, M. Scoto, R. Phadke, S. Lillis, T. Cullup, R. Mein, S. Abbs, F. Muntoni, C.A. Sewry

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 61 KB

english, 2011

37

P75 Exome sequencing identifies EPG5 mutations in two siblings with a childhood onset vacuolar myopathy

Whyte, T., Cullup, T., Robb, S., Sewry, C., Jungbluth, H., Muntoni, F.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 50 KB

english, 2014

38

Mosaicism for Dominant Collagen 6 Mutations as a Cause for Intrafamilial Phenotypic Variability

Donkervoort, Sandra, Hu, Ying, Stojkovic, Tanya, Voermans, Nicol C., Foley, A. Reghan, Leach, Meganne E., Dastgir, Jahannaz, Bolduc, Véronique, Cullup, Thomas, de Becdelièvre, Alix, Yang, Lin, Su, Hai

Journal:

Year:

2015

Language:

english

File:

PDF, 3.07 MB

english, 2015

39

Donor interleukin 1 receptor antagonist genotype associated with acute graft-versus-host disease in human leucocyte antigen-matched sibling allogeneic transplants

H. Cullup, A. M. Dickinson, G. H. Jackson, P. R. Taylor, J. Cavet, P. G. Middleton

Journal:

British Journal of Haematology

Year:

2001

Language:

english

File:

PDF, 95 KB

english, 2001

40

GvHD risk assessment in hematopoietic stem cell transplantation: role of cytokine gene polymorphisms and an in vitro human skin explant model

A.M Dickinson, J Cavet, H Cullup, X.N Wang, L Sviland, P.G Middleton

Journal:

Human Immunology

Year:

2001

Language:

english

File:

PDF, 470 KB

english, 2001

41

[BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health GOSH Conference 2019, Care of the Complex Child - ()] Abstracts - 17âUsing whole genome sequencing to make new diagnoses in paediatrics: successes, challenges and lifelong learning

Menzies, Lara, Morrogh, Deborah, Cullup, Thomas, Buckton, Andrew, Clement, Emma, Kumar, Ajith, Hurst, Jane

File:

PDF, 55 KB

42

ABCA12 Is the Major Harlequin Ichthyosis Gene

Thomas, Anna C, Cullup, Tom, Norgett, Elizabeth E, Hill, Tara, Barton, Stephanie, Dale, Beverly A, Sprecher, Eli, Sheridan, Eamonn, Taylor, Aileen E, Wilroy, Robert S

Journal:

The Journal of Investigative Dermatology

Year:

2006

Language:

english

File:

PDF, 213 KB

english, 2006

43

G.O.8 Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathy

S.A. Robb, C.A. Sewry, A.Y. Manzur, R.K. Knight, K.R. Mills, M. Pike, C. Muller, M.M. Lees, T. Cullup, H. Jungbluth, M.C. Pitt, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

44

Haematopoietic stem cell transplantation: can our genes predict clinical outcome?

Dickinson, Anne M., Harrold, Jane L., Cullup, Hannah

Journal:

Expert Reviews in Molecular Medicine

Year:

2007

Language:

english

File:

PDF, 238 KB

english, 2007

45

A novel ABCA12 mutation underlying a case of Harlequin ichthyosis

S.F. Rajpar, T. Cullup, D.P. Kelsell, C. Moss

Journal:

British Journal of Dermatology

Year:

2006

Language:

english

File:

PDF, 216 KB

english, 2006

46

Somatic mitochondrial DNA mutations in primary and metastatic ovarian cancer

P.O. Van Trappen, T. Cullup, R. Troke, D. Swann, J.H. Shepherd, I.J. Jacobs, S.A. Gayther, C.A. Mein

Journal:

Gynecologic Oncology

Year:

2007

Language:

english

File:

PDF, 293 KB

english, 2007

47

Mesenchymal stromal cells transiently alter the inflammatory milieu post-transplant to delay graft-versus-host disease

Christensen, M. E., Turner, B. E., Sinfield, L. J., Kollar, K., Cullup, H., Waterhouse, N. J., Hart, D. N. J., Atkinson, K., Rice, A. M.

Journal:

Year:

2010

Language:

english

File:

PDF, 1.30 MB

english, 2010

48

Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing

Scoto, Mariacristina, Cullup, Thomas, Cirak, Sebahattin, Yau, Shu, Manzur, Adnan Y, Feng, Lucy, Jacques, Thomas S, Anderson, Glenn, Abbs, Stephen, Sewry, Caroline, Jungbluth, Heinz, Muntoni, Francesco

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 842 KB

english, 2013

49

OP81 – 2242: Genetic diagnosis in early infantile epileptic encephalopathy and severe neurodevelopmental delay using a gene panel: Our experience and results so far

Trump, N., McTague, A., Kurian, M., Papandreou, A., Cullup, T., Boustred, C., Gomez, B., Jenkins, L., Scott, R.

Journal:

European Journal of Paediatric Neurology

Year:

2015

Language:

english

File:

PDF, 118 KB

english, 2015

50

Reply

Sowden, Jane C., Patel, Aara, Dahlmann-Noor, Annegret, Cullup, Thomas, Jenkins, Lucy

Journal:

Year:

2020

Language:

english

File:

PDF, 265 KB

english, 2020

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