Sampson, Julian : rechercher sur Z-Library

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1

Tuberous sclerosis complex

Henske, Elizabeth P., Jóźwiak, Sergiusz, Kingswood, J. Christopher, Sampson, Julian R., Thiele, Elizabeth A.

Journal:

Nature Reviews Disease Primers

Année:

2016

Langue:

english

Fichier:

PDF, 4.67 MB

english, 2016

2

Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors

Al-Tassan, Nada, Chmiel, Nikolas H., Maynard, Julie, Fleming, Nick, Livingston, Alison L., Williams, Geraint T., Hodges, Angela K., Davies, D. Rhodri, David, Sheila S., Sampson, Julian R.

Journal:

Nature Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 1003 KB

english, 2002

3

Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes

Paul Emmerson, Julie Maynard, Siân Jones, Rachel Butler, Julian R. Sampson, Jeremy P. Cheadle

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 192 KB

english, 2003

4

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

Julian R Sampson, Sunil Dolwani, Sian Jones, Diana Eccles, Anthony Ellis, D Gareth Evans, Ian Frayling, Sheila Jordan, Eamonn R Maher, Tony Mak, Julie Maynard, Francesca Pigatto, Joan Shaw, Jeremy P C

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 68 KB

english, 2003

5

Epilepsy in Tuberous Sclerosis: Phenotypes, Mechanisms, and Treatments

Saxena, Anurag, Sampson, Julian

Journal:

Seminars in Neurology

Année:

2015

Langue:

english

Fichier:

PDF, 201 KB

english, 2015

6

Anterolateral Thigh Free Flap

Pribaz, Julian J., Orgill, Dennis P., Epstein, Mark D., Sampson, Christian E., Hergrueter, Charles A.

Journal:

Annals of Plastic Surgery

Année:

1995

Fichier:

PDF, 754 KB

1995

7

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

Cleaver, Ruth, Berg, Jonathan, Craft, Emily, Foster, Alison, Gibbons, Richard J., Hobson, Emma, Lachlan, Katherine, Naik, Swati, Sampson, Julian R., Sharif, Saba, Smithson, Sarah, Parker, Michael J.,

Journal:

American Journal of Medical Genetics Part A

Année:

2019

Langue:

english

Fichier:

PDF, 1.08 MB

english, 2019

8

Gorlin syndrome: Identification of 4 novel germ-line mutations of the human patched (PTCH) gene

Kerstin Hasenpusch-Theil, Veronique Bataille, Jaana Laehdetie, Franz Obermayr, Julian R. Sampson, Anna-Maria Frischauf

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 35 KB

english, 1998

9

Trisomy 14pter → q21: A case with associated ovarian germ cell tumor and review of the literature

Lisa Lee-Jones, Tom Williams, Elizabeth Little, Julian Sampson

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 279 KB

english, 2004

10

Sacrococcygeal chordomas in patients with tuberous sclerosis complex show somatic loss of TSC1 or TSC2

Lisa Lee-Jones, Irene Aligianis, Peter A. Davies, Ana Puga, Peter A. Farndon, Anat Stemmer-Rachamimov, Vijaya Ramesh, Julian R. Sampson

Journal:

Genes, Chromosomes and Cancer

Année:

2004

Langue:

english

Fichier:

PDF, 303 KB

english, 2004

11

Low level mosaicism detectable by DHPLC but not by direct sequencing

Alistair C. Jones, Julian R. Sampson, Jeremy P. Cheadle

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 121 KB

english, 2001

12

Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic NavigatorTM software

James Colley, Siân Jones, Anthony R. Dallosso, Julie H. Maynard, Vikki Humphreys, Sunil Dolwani, Julian R. Sampson, Jeremy P. Cheadle

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 285 KB

english, 2005

13

Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer

Christina Fleischmann, Julian Peto, Jeremy Cheadle, Bindiya Shah, Julian Sampson, Richard S. Houlston

Journal:

International Journal of Cancer

Année:

2004

Langue:

english

Fichier:

PDF, 76 KB

english, 2004

14

MUTYH-associated polyposis

Julian R. Sampson, Natalie Jones

Journal:

Best Practice & Research Clinical Gastroenterology

Année:

2009

Langue:

english

Fichier:

PDF, 208 KB

english, 2009

15

Identification of a region required for TSC1 stability by functional analysis ofTSC1missense mutations found in individuals with tuberous sclerosis complex

Melika Mozaffari, Marianne Hoogeveen-Westerveld, David Kwiatkowski, Julian Sampson, Rosemary Ekong, Sue Povey, Johan T den Dunnen, Ans van den Ouweland, Dicky Halley, Mark Nellist

Journal:

BMC Medical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 1.40 MB

english, 2009

16

Refined localization of TSC1 by combined analysis of 9q34 and 16pl3 data in 14 tuberous sclerosis families

Bart Janssen, Julian Sampson, Mieke Est, Wout Deelen, Senno Verhoef, Ian Daniels, Arjenne Hesseling, Phillip Brook-Carter, Mark Nellist, Dick Lindhout, Lodewijk Sandkuijl, Dicky Halley

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 336 KB

english, 1994

17

Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog

Toshiyuki Kobayashi, Shinji Urakami, Jeremy P. Cheadle, Richard Aspinwall, Peter Harris, Julian R. Sampson, Okio Hino

Journal:

Mammalian Genome

Année:

1997

Langue:

english

Fichier:

PDF, 1.44 MB

english, 1997

18

Molecular genetic advances in tuberous sclerosis

Jeremy P. Cheadle, Mary Pat Reeve, Julian R. Sampson, David J. Kwiatkowski

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 171 KB

english, 2000

19

Molecular analysis of theTSC1andTSC2tumour suppressor genes in sporadic glial and glioneuronal tumours

Lee Parry, Julie Maynard, Amit Patel, Angela Hodges, Andreas von Deimling, Julian Sampson, Jeremy Cheadle

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 90 KB

english, 2000

20

Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis

Alistair C. Jones, Julian R. Sampson, Bastian Hoogendoorn, David Cohen, Jeremy P. Cheadle

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 196 KB

english, 2000

21

Evaluation of pharyngeal shape and size using anatomical optical coherence tomography in individuals with and without obstructive sleep apnoea

JENNIFER H. WALSH, MATTHEW S. LEIGH, ALEXANDRE PADUCH, KATHLEEN J. MADDISON, DANIELLE L. PHILIPPE, JULIAN J. ARMSTRONG, DAVID D. SAMPSON, DAVID R. HILLMAN, PETER R. EASTWOOD

Journal:

Journal of Sleep Research

Année:

2008

Langue:

english

Fichier:

PDF, 268 KB

english, 2008

22

Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome

Brook-Carter, Phillip T., Peral, Belén, Ward, Christopher J., Thompson, Peter, Hughes, Jim, Maheshwar, Magitha M., Nellist, Mark, Gamble, Vicki, Harris, Peter C., Sampson, Julian R.

Journal:

Nature Genetics

Année:

1994

Fichier:

PDF, 649 KB

1994

23

The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination

Benvenuto, Giovanna, Li, Shaowei, Brown, Samantha J, Braverman, Richard, Vass, William C, Cheadle, Jeremy P, Halley, Dicky JJ, Sampson, Julian R, Wienecke, Ralf, DeClue, Jeffrey E

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 341 KB

english, 2000

24

Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression

Soucek, Thomas, Rosner, Margit, Miloloza, Angelina, Kubista, Marion, Cheadle, Jeremy P, Sampson, Julian R, Hengstschläger, Markus

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 197 KB

english, 2001

25

Genetic Testing Considerations in Breast Cancer Patients

Liz France, Jonathon Gray, Glyn Elwyn, Mark Tischkowitz, Kate Brain, Julian Sampson, Cathy Anglim, Angus Clarke, Evelyn Parsons, Helen Sweetland, Robert Mansel, Peter Barrett-Lee, Peter Harper

Journal:

Journal of Genetic Counseling

Année:

1999

Langue:

english

Fichier:

PDF, 498 KB

english, 1999

26

Society news

Penny Tranter, Julian Mayes, Laura Sampson

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 232 KB

english, 2006

27

Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus

Jeremy P. Cheadle, Lorraine Dobbie, Shelley Idziaszczyk, Angela K. Hodges, Andrew J.H. Smith, Julian R. Sampson, Janet Young

Journal:

Mammalian Genome

Année:

2000

Langue:

english

Fichier:

PDF, 821 KB

english, 2000

28

MUTYH-associated polyposis—From defect in base excision repair to clinical genetic testing

Jeremy P. Cheadle, Julian R. Sampson

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 401 KB

english, 2007

29

Distribution of airway narrowing responses across generations and at branching points, assessedin vitroby anatomical optical coherence tomography

Peter B Noble, Robert A McLaughlin, Adrian R West, Sven Becker, Julian J Armstrong, Peter K McFawn, Peter R Eastwood, David R Hillman, David D Sampson, Howard W Mitchell

Journal:

Respiratory Research

Année:

2010

Langue:

english

Fichier:

PDF, 2.24 MB

english, 2010

30

In vivo size and shape measurement of the human upper airway using endoscopic longrange optical coherence tomography

Armstrong, Julian, Leigh, Matthew, Walton, Ian, Zvyagin, Andrei, Alexandrov, Sergey, Schwer, Stefan, Sampson, David, Hillman, David, Eastwood, Peter

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 1.11 MB

english, 2003

31

Refractive index tomography of turbid media by bifocal optical coherence refractometry

Silva, K. K. M. B., Alexandrov, Sergey, Hillman, Timothy, Armstrong, Julian, Tsuzuki, Takuya, Zvyagin, Andrei, Sampson, David

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 3.39 MB

english, 2003

32

Applying anatomical optical coherence tomography to quantitative 3D imaging of the lower airway

McLaughlin, Robert A., Williamson, Jonathan P., Phillips, Martin J., Armstrong, Julian J., Becker, Sven, Hillman, David R., Eastwood, Peter R., Sampson, David D.

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 1.56 MB

english, 2008

33

Respiratory gating of anatomical optical coherence tomography images of the human airway

McLaughlin, Robert A., Armstrong, Julian J., Becker, Sven, Walsh, Jennifer H., Jain, Arpit, Hillman, David R., Eastwood, Peter R., Sampson, David D.

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 539 KB

english, 2009

34

Correlation of static speckle with sample properties in optical coherence tomography

Hillman, Timothy R., Adie, Steven G., Seemann, Volker, Armstrong, Julian J., Jacques, Steven L., Sampson, David D.

Journal:

Année:

2006

Langue:

english

Fichier:

PDF, 110 KB

english, 2006

35

Needle-based refractive index measurement using low-coherence interferometry

Zysk, Adam M., Adie, Steven G., Armstrong, Julian J., Leigh, Matthew S., Paduch, Alexandre, Sampson, David D., Nguyen, Freddy T., Boppart, Stephen A.

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 144 KB

english, 2007

36

Alternative Splicing of the Tuberous Sclerosis 2 (TSC2) Gene in Human and Mouse Tissues

Lin Xu, Christopher Sterner, Magitha M. Maheshwar, Peter J. Wilson, Mark Nellist, Priscilla M. Short, Jonathan L. Haines, Julian R. Sampson, Vijaya Ramesh

Journal:

Année:

1995

Fichier:

PDF, 504 KB

1995

37

Tuberin and hamartin are aberrantly expressed and linked to clinical outcome in human breast cancer: The role of promoter methylation of TSC genes

Wen G. Jiang, Julian Sampson, Tracey A. Martin, Lisa Lee-Jones, Gareth Watkins, Anthony Douglas-Jones, Kefah Mokbel, Robert E. Mansel

Journal:

European Journal of Cancer

Année:

2005

Langue:

english

Fichier:

PDF, 578 KB

english, 2005

38

T2 weighted MRI for assessing renal lesions in transgenic mouse models of tuberous sclerosis

Maria Kalogerou, Yadan Zhang, Jian Yang, Nigel Garrahan, Stephen Paisey, Paweł Tokarczuk, Andrew Stewart, John Gallacher, Julian R. Sampson, Ming Hong Shen

Journal:

European Journal of Radiology

Année:

2012

Langue:

english

Fichier:

PDF, 822 KB

english, 2012

39

LD-PCR coupled to long-read direct sequencing: an approach for mutation detection in genes with compact genomic structures

Nick Fleming, Julie Maynard, Loukas Tzitzis, Julian R. Sampson, Jeremy P. Cheadle

Journal:

Journal of Biochemical and Biophysical Methods

Année:

2001

Langue:

english

Fichier:

PDF, 262 KB

english, 2001

40

Temperature modulation of DHPLC analysis for detection of coexisting constitutional and mosaic sequence variants in TSC2

Emmanuel S. Antonarakis, Julian R. Sampson, Jeremy P. Cheadle

Journal:

Journal of Biochemical and Biophysical Methods

Année:

2002

Langue:

english

Fichier:

PDF, 104 KB

english, 2002

41

Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis

Alistair C. Jones, Magitha M. Shyamsundar, Meinir W. Thomas, Julie Maynard, Shelley Idziaszczyk, Susan Tomkins, Julian R. Sampson, Jeremy P. Cheadle

Journal:

The American Journal of Human Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 149 KB

english, 1999

42

Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene

Julian R. Sampson, Magitha M. Maheshwar, Richard Aspinwall, Peter Thompson, Jeremy P. Cheadle, David Ravine, Sushmita Roy, Eric Haan, Jay Bernstein, Peter C. Harris

Journal:

The American Journal of Human Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 1.11 MB

english, 1997

43

Cross-Species Comparison of Human and Mouse Intestinal Polyps Reveals Conserved Mechanisms in Adenomatous Polyposis Coli (APC)-Driven Tumorigenesis

Claudia Gaspar, Joana Cardoso, Patrick Franken, Lia Molenaar, Hans Morreau, Gabriela Möslein, Julian Sampson, Judith M. Boer, Renée X. de Menezes, Riccardo Fodde

Journal:

The American Journal of Pathology

Année:

2008

Langue:

english

Fichier:

PDF, 2.48 MB

english, 2008

44

Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis

Alistair C. Jones,Julian R. Sampson,Bastian Hoogendoorn,David Cohen…

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 196 KB

english, 2000

45

MYH polyposis: A new autosomal recessive form of familial adenomatous polyposis due to defective base excision repair-reappraisal of genetic risk and family management

Sunil Dolwani, Julian Sampson, Sian Jones, Diana Eccles, Anthony Ellis, Gareth Evans, Ian Frayling, Tony Mak, Francesca Pigatto, Sheila Jordan, Eamonn Maher, Julie Maynard, Joan Shaw, Jeremy Cheadle

Journal:

Gastroenterology

Année:

2003

Langue:

english

Fichier:

PDF, 171 KB

english, 2003

46

Analysis of MUTYH Genotypes and Colorectal Phenotypes in Patients With MUTYH-Associated Polyposis

Maartje Nielsen, Mirjam C. Joerink - van de Beld, Natalie Jones, Stefanie Vogt, Carli M. Tops, Hans F.A. Vasen, Julian R. Sampson, Stefan Aretz, Frederik J. Hes

Journal:

Gastroenterology

Année:

2009

Langue:

english

Fichier:

PDF, 712 KB

english, 2009

47

Expanded Extracolonic Tumor Spectrum in MUTYH-Associated Polyposis

Stefanie Vogt, Natalie Jones, Daria Christian, Christoph Engel, Maartje Nielsen, Astrid Kaufmann, Verena Steinke, Hans F. Vasen, Peter Propping, Julian R. Sampson, Frederik J. Hes, Stefan Aretz

Journal:

Gastroenterology

Année:

2009

Langue:

english

Fichier:

PDF, 599 KB

english, 2009

48

Recent Linkage Studies in Tuberous Sclerosis : Chromosome 9 Markers

J. MICHAEL CONNOR, JULIAN SAMPSON

Journal:

Annals of the New York Academy of Sciences

Année:

1991

Langue:

english

Fichier:

PDF, 367 KB

english, 1991

49

Renal tumours in a Tsc1+/– mouse model show epigenetic suppression of organic cation transporters Slc22a1, Slc22a2 and Slc22a3, and do not respond to metformin

Yang, Jian, Kalogerou, Maria, Gallacher, John, Sampson, Julian R., Shen, Ming Hong

Journal:

European Journal of Cancer

Année:

2013

Langue:

english

Fichier:

PDF, 1.60 MB

english, 2013

50

Rehabilitation following hand transplantation

Bueno, Ericka, Benjamin, Marie-Jose, Sisk, Geoffroy, Sampson, Christian E., Carty, Matthew, Pribaz, Julian J., Pomahac, Bohdan, Talbot, Simon G.

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 355 KB

english, 2014