Trent Burgess : rechercher sur Z-Library

Campagne de collecte 15 septembre 2024 – 1 octobre 2024 C'est quoi, la collecte de fonds?

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Campagne de collecte 15 septembre 2024 – 1 octobre 2024

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1

High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy

Damien L. Bruno, Trent Burgess, Hua Ren, Sara Nouri, Mark D. Pertile, David I. Francis, Fiona Norris, Bronwyn K. Kenney, Jan Schouten, K.H. Andy Choo, Howard R. Slater

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 293 KB

english, 2006

2

Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1

Wallis, Mathew, Tsurusaki, Yoshinori, Burgess, Trent, Borzi, Peter, Matsumoto, Naomichi, Miyake, Noriko, True, Deanna, Patel, Chirag

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 691 KB

english, 2016

3

Congenital Retroperitoneal Teratoma in Neurofibromatosis Type 1

Yap, Patrick, Super, Leanne, Qin, Jinyi, Burgess, Trent, Prodanovic, Zdenka, Edwards, Caitlin, Thomas, Rosemary, Carpenter, Karen, Tan, Tiong Yang

Journal:

Pediatric Blood & Cancer

Année:

2016

Langue:

english

Fichier:

PDF, 119 KB

english, 2016

4

Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion

Mei, Cristina, Fedorenko, Evelina, Amor, David J., Boys, Amber, Hoeflin, Caitlyn, Carew, Peter, Burgess, Trent, Fisher, Simon E., Morgan, Angela T.

Journal:

European Journal of Human Genetics

Année:

2018

Langue:

english

Fichier:

PDF, 652 KB

english, 2018

5

Performance on auditory, vestibular, and visual tests is stable across two seasons of youth tackle football

White-Schwoch, Travis, Krizman, Jennifer, McCracken, Kristi, Burgess, Jamie K., Thompson, Elaine C., Nicol, Trent, LaBella, Cynthia R., Kraus, Nina

Journal:

Année:

2019

Langue:

english

Fichier:

PDF, 1.40 MB

english, 2019

6

PRENATAL DIAGNOSIS OF PRADER–WILLI SYNDROME USING PW71 METHYLATION ANALYSIS—UNIPARENTAL DISOMY AND THE SIGNIFICANCE OF RESIDUAL TRISOMY 15

HOWARD R. SLATER, CATHRYN VAUX, MARK PERTILE, TRENT BURGESS, VIDA PETROVIC

Journal:

Prenatal Diagnosis

Année:

1997

Langue:

english

Fichier:

PDF, 346 KB

english, 1997

7

Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: Preliminary data suggest an involvement of epigenetic mechanisms

Danuta Z. Loesch, David E. Godler, Mahmoud Khaniani, Emma Gould, Freya Gehling, Cheryl Dissanayake, Trent Burgess, Flora Tassone, Richard Huggins, Howard Slater, KH Andy Choo

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 120 KB

english, 2009

8

Atypical Silver–Russell phenotype resulting from maternal uniparental disomy of chromosome 7

Zornitza Stark, Monique M. Ryan, Damien L. Bruno, Trent Burgess, Ravi Savarirayan

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 176 KB

english, 2010

9

Results of a 2-arm Phase II study of 9-nitrocamptothecin in patients with advanced soft-tissue sarcomas

Shreyaskumar R. Patel, Jennifer Beach, Nicholas Papadopoulos, M. Andrew Burgess, Jonathan Trent, Jan Jenkins, Robert S. Benjamin

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 110 KB

english, 2003

10

A two-arm phase II study of temozolomide in patients with advanced gastrointestinal stromal tumors and other soft tissue sarcomas

Jonathan C. Trent, Jennifer Beach, Michael A. Burgess, Nicholas Papadopolous, Lei L. Chen, Robert S. Benjamin, Shreyaskumar R. Patel

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 141 KB

english, 2003

11

Angiosarcoma of the breast

Stephan A. Vorburger, Yan Xing, Kelly K. Hunt, Gregory E. Lakin, Robert S. Benjamin, Barry W. Feig, Peter W. T. Pisters, Matthew T. Ballo, Lei Chen, Jonathan Trent III, Michael Burgess, Shreyaskumar P

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 176 KB

english, 2005

12

Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays

Damien L. Bruno, Zornitza Stark, David J. Amor, Trent Burgess, Kathy Butler, Sylvea Corrie, David Francis, Devika Ganesamoorthy, Louise Hills, Paul A. James, Darren O'Rielly, Ralph Oertel, Ravi Savari

Journal:

Année:

2011

Langue:

english

Fichier:

PDF, 235 KB

english, 2011

13

Use of fluorescence in situ hybridization (fish) to study chromosomal damage induced by radiation and bromodeoxyuridine in human colon cancer cells

Stephen R. Wilt, Ann C. Burgess, Daniel P. Normolle, Jeffrey M. Trent, Theodore S. Lawrence

Journal:

International Journal of Radiation Oncology*Biology*Physics

Année:

1994

Langue:

english

Fichier:

PDF, 2.87 MB

english, 1994

14

Improved Methodology for Assessment of mRNA Levels in Blood of Patients with FMR1 Related Disorders

David E Godler, Danuta Z Loesch, Richard Huggins, Lavinia Gordon, Howard R Slater, Freya Gehling, Trent Burgess, KH Andy Choo

Journal:

BMC Clinical Pathology

Année:

2009

Langue:

english

Fichier:

PDF, 1.01 MB

english, 2009

15

An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1)

Mahmoud S Khaniani, Paul Kalitsis, Trent Burgess, Howard R Slater

Journal:

Molecular Cytogenetics

Année:

2008

Langue:

english

Fichier:

PDF, 726 KB

english, 2008

16

Coverage of chromosome 6 by chromosome microdissection: generation of 14 subregion-specific probes

Xin-Yuan Guan, Paul S. Meltzer, Ann C. Burgess, Jeffrey M. Trent

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 1.13 MB

english, 1995

17

Identification by fish of non-uniform chromosome breakage in cancer cells treated with radiation ± BrdUrd

Stephen R. Wilt, Ann C. Burgess, Daniel P. Normolle, Jeffrey M. Trent, Theodore S. Lawrencel

Journal:

International Journal of Radiation Oncology*Biology*Physics

Année:

1993

Fichier:

PDF, 110 KB

1993

18

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome

Hawkins, Malcolm, Boyle, Jennifer, Wright, Kathleen E, Elles, Rob, Ramsden, Simon C, O'Grady, Anna, Sweeney, Michael, Barton, David E, Burgess, Trent, Moore, Melanie

Journal:

European Journal of Human Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 785 KB

english, 2010

19

Rapid generation of region specific probes by chromosome microdissection and their application

Meltzer, Paul S., Guan, Xin-Yuan, Burgess, Ann, Trent, Jeffrey M.

Journal:

Nature Genetics

Année:

1992

Fichier:

PDF, 586 KB

1992

20

Surgical Resection of Gastrointestinal Stromal Tumors After Treatment with Imatinib

Robert H. I. Andtbacka, Chaan S. Ng, Courtney L. Scaife, Janice N. Cormier, Kelly K. Hunt, Peter W. T. Pisters, Raphael E. Pollock, Robert S. Benjamin, Michael A. Burgess, Lei L. Chen, Jonathan Trent,

Journal:

Annals of Surgical Oncology

Année:

2007

Langue:

english

Fichier:

PDF, 236 KB

english, 2007

21

Chromosome breakpoint at 17q11.2 and insertion of DNA from three different chromosomes in a glioblastoma with exceptional glial fibrillary acidic protein expression

Paul E. McKeever, Thomas R. Dennis, Ann C. Burgess, Paul S. Meltzer, Douglas A. Marchuk, Jeffrey M. Trent

Journal:

Cancer Genetics and Cytogenetics

Année:

1996

Langue:

english

Fichier:

PDF, 1006 KB

english, 1996

22

Is there a role for surgery in patients with “unresectable” cKIT+ gastrointestinal stromal tumors treated with imatinib mesylate?

Courtney L Scaife, Kelly K Hunt, Shreyaskumar R Patel, Robert S Benjamin, Michael A Burgess, Lei L Chen, Jonathan Trent, A.Kevin Raymond, Janice N Cormier, Peter W.T Pisters, Raphael E Pollock, Barry

Journal:

The American Journal of Surgery

Année:

2003

Langue:

english

Fichier:

PDF, 49 KB

english, 2003

23

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment

Alison Yeung, Damien Bruno, Ingrid E. Scheffer, Daniel Carranza, Trent Burgess, Howard R. Slater, David J. Amor

Journal:

European Journal of Medical Genetics

Année:

2009

Langue:

english

Fichier:

PDF, 281 KB

english, 2009

24

Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: Comparison with the interphase FISH Method

Howard Slater, Damien Bruno, Hua Ren, Phung La, Trent Burgess, Louise Hills, Sara Nouri, Jan Schouten, K.H. Andy Choo

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 276 KB

english, 2004

25

Phenotype in novel Xp duplication

Manju Salaria, Trent Burgess, Stella Setyapranata, Ingrid Winship

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 211 KB

english, 2012

26

Cytogenetic analysis of 9 new human melanoma cell lines: Further evidence for involvement of chromosome 6 alterations

A. Leibovitz, F.L. Meyskens, A. Burgess, F.H. Thompson, J.M. Trent

Journal:

Cancer Genetics and Cytogenetics

Année:

1987

Langue:

english

Fichier:

PDF, 96 KB

english, 1987

27

Cytogenetic comparison of multiple lesions from three patients with metastatic malignant melanoma

AC Burgess, SPL Leong, F Meyskens, FH Thompson, JM Trent

Journal:

Cancer Genetics and Cytogenetics

Année:

1989

Langue:

english

Fichier:

PDF, 41 KB

english, 1989

28

Chromosome alterations in 71 cases of malignant metastatic melanoma

H McBride, S Leong, F Meyskens, A Burgess, F Thompson, J Trent

Journal:

Cancer Genetics and Cytogenetics

Année:

1989

Langue:

english

Fichier:

PDF, 69 KB

english, 1989

29

Detailed description of abnormal cytogenetic findings in 32 patients with metastatic melanoma

AC Burgess, FH Thompson, S Olson, SPL Leong, SE Salmon, JM Trent

Journal:

Cancer Genetics and Cytogenetics

Année:

1991

Langue:

english

Fichier:

PDF, 59 KB

english, 1991

30

Generation of region-specific library and painting probes on chromosome 6 by micro-dissection

X-Y. Guan, P.S. Meltzer, A. Burgess, J. Cao, J.M. Trent

Journal:

Cancer Genetics and Cytogenetics

Année:

1993

Langue:

english

Fichier:

PDF, 111 KB

english, 1993

31

Application of chromosome microdissection to the identification of complex chromosomal rearrangements in malignancy

J.M. Trent, X.-Y. Guan, J. Zang, A. Burgess, T. Dennis, P.S. Meltzer

Journal:

Cancer Genetics and Cytogenetics

Année:

1993

Langue:

english

Fichier:

PDF, 114 KB

english, 1993

32

Stabilization of chromosome breakage by telomere capture: Demonstration by chromosome microdissection

Paul S. Meltzer, Xin-Yuan Guan, Tom Dennis, Ann Burgess, Jeffrey M. Trent

Journal:

Cancer Genetics and Cytogenetics

Année:

1993

Langue:

english

Fichier:

PDF, 101 KB

english, 1993

33

Detailed cytogenetic analysis of malignant melanoma

Tom Dennis, Ann Burgess, Elizabeth Thompson, Jeffrey M. Trent

Journal:

Cancer Genetics and Cytogenetics

Année:

1993

Langue:

english

Fichier:

PDF, 126 KB

english, 1993

34

Cytogenetic abnormalities in 24 cases of stage II malignant melanoma

S Olson, FH Thompson, A Burgess, S Fox, J Emerson, R Taetle, SE Salmon, JM Trent

Journal:

Cancer Genetics and Cytogenetics

Année:

1993

Langue:

english

Fichier:

PDF, 126 KB

english, 1993

35

Clonal chromosome abnormalities in 54 cases of ovarian carcinoma

F.H. Thompson, J. Emerson, D. Alberts, Y. Liu, X-Y. Guan, A. Burgess, S. Fox, R. Taetle, R. Weinstein, R. Makar, D. Powell, J. Trent

Journal:

Cancer Genetics and Cytogenetics

Année:

1994

Langue:

english

Fichier:

PDF, 1.69 MB

english, 1994

36

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome

Hawkins, Malcolm, Boyle, Jennifer, Wright, Kathleen E, Elles, Rob, Ramsden, Simon C, O'Grady, Anna, Sweeney, Michael, Barton, David E, Burgess, Trent, Moore, Melanie, Burns, Chris, Stacey, Glyn, Gray,

Journal:

European Journal of Human Genetics

Année:

2013

Fichier:

PDF, 64 KB

2013

37

White Matter Changes in Patients with Parkinson's Disease Carrying Small CGG Expansion FMR1 Alleles: A Pilot Study

Trost, Nicholas, Cook, Mark, Hammersley, Eleanor, Bui, Minh Q., Brotchie, Peter, Burgess, Trent, Slater, Howard, Storey, Elsdon, Loesch, Danuta Z.

Journal:

Neurodegenerative Diseases

Année:

2014

Langue:

english

Fichier:

PDF, 161 KB

english, 2014

38

The Prevalence of Turner Syndrome in Girls Presenting with Coarctation of the Aorta

Wong, Sze Choong, Burgess, Trent, Cheung, Michael, Zacharin, Margaret

Journal:

The Journal of Pediatrics

Année:

2014

Langue:

english

Fichier:

PDF, 228 KB

english, 2014

39

Neonatal presentation of chromosome 9q33.2–q34.3 duplication

Moody, Alexandra, Athikarisamy, Sam E, Yeung, Alison, Burgess, Trent, Malhotra, Atul

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 855 KB

english, 2013

40

Identification of Small FRAXA Premutations

David Francis MSc,Trent Burgess BSc,John Mitchell PhD…

Journal:

Molecular Diagnosis & Therapy

Année:

2000

Langue:

english

Fichier:

PDF, 2.38 MB

english, 2000

41

5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases

Brown, Natasha, Burgess, Trent, Forbes, Robin, McGillivray, George, Kornberg, Andrew, Mandelstam, Simone, Stark, Zornitza

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 783 KB

english, 2013

42

Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions

Burgess, Trent, Brown, Natasha J., Stark, Zornitza, Bruno, Damien L., Oertel, Ralph, Chong, Belinda, Calabro, Vanessa, Kornberg, Andrew, Sanderson, Christine, Kelly, Julian, Howell, Katherine B., Sava

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 1.04 MB

english, 2014

43

FOXP1 mutations cause intellectual disability and a recognizable phenotype

Le Fevre, Anna K., Taylor, Sharelle, Malek, Neva H., Horn, Denise, Carr, Christopher W., Abdul-Rahman, Omar A., O'Donnell, Sherindan, Burgess, Trent, Shaw, Marie, Gecz, Jozef, Bain, Nicole, Fagan, Ker

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 798 KB

english, 2013

44

Copy-number variation associated with congenital anomalies of the kidney and urinary tract

Caruana, Georgina, Wong, Milagros N., Walker, Amanda, Heloury, Yves, Webb, Nathalie, Johnstone, Lilian, James, Paul A., Burgess, Trent, Bertram, John F.

Journal:

Pediatric Nephrology

Année:

2015

Langue:

english

Fichier:

PDF, 228 KB

english, 2015

45

Monosomy 21 Seen in Live Born Is Unlikely to Represent True Monosomy 21: A Case Report and Review of the Literature

Burgess, Trent, Downie, Lilian, Pertile, Mark D., Francis, David, Glass, Melissa, Nouri, Sara, Pszczola, Rosalynn

Journal:

Case Reports in Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 1.26 MB

english, 2014

46

Questionable pathogenicity of FOXG1 duplication

Amor, David J, Burgess, Trent, Tan, Tiong Y, Pertile, Mark D

Journal:

European Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 188 KB

english, 2012

47

A model for offering carrier screening for fragile X syndrome to nonpregnant women: results from a pilot study

Metcalfe, Sylvia, Jacques, Alice, Archibald, Alison, Burgess, Trent, Collins, Veronica, Henry, Anna, McNamee, Kathleen, Sheffield, Leslie, Slater, Howard, Wake, Samantha, Cohen, Jonathan

Journal:

Genetics in Medicine

Année:

2008

Langue:

english

Fichier:

PDF, 852 KB

english, 2008

48

A neural crest origin for cohesinopathy heart defects

Schuster, Kevin, Leeke, Bryony, Meier, Michael, Wang, Yizhou, Newman, Trent, Burgess, Sean, Horsfield, Julia A.

Journal:

Human Molecular Genetics

Année:

2015

Langue:

english

Fichier:

PDF, 1.20 MB

english, 2015

49

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder

Jacobsen, Jessie C., Wilson, Callum, Cunningham, Vicki, Glamuzina, Emma, Prosser, Debra O., Love, Donald R., Burgess, Trent, Taylor, Juliet, Swan, Brendan, Hill, Rosamund, Robertson, Stephen P., Snell

Journal:

Journal of Inherited Metabolic Disease

Année:

2016

Langue:

english

Fichier:

PDF, 359 KB

english, 2016

50

Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R

Leffler, Melanie, Puusepp, Sanna, Žilina, Olga, Zhu, Ying, Kuuse, Kati, Bain, Nicole, Burgess, Trent, Õunap, Katrin, Field, Michael

Journal:

European Journal of Medical Genetics

Année:

2016

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2016