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1

Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene

Beard, Catherine, Purvis, Rebecca, Winship, Ingrid M., Macrae, Finlay A., Buchanan, Daniel D.

Journal:

Familial Cancer

Year:

2019

File:

PDF, 989 KB

2019

2

False-positive diagnosis of trisomy 21 using fluorescence in situ hybridisation (FISH) on uncultured amniotic fluid cells

Alice M. George, Paul Oei, Ingrid Winship

Journal:

Prenatal Diagnosis

Year:

2003

Language:

english

File:

PDF, 65 KB

english, 2003

3

Genetic Diversity and Linkage Disequilibrium in the Polynesian Population of Niue Island

WILLIAM G. H. ABBOTT, INGRID M. WINSHIP, EDWARD J. GANE, SITALEKI A. FINAU, STEPHEN R. MUNN and COLIN F. TUKUITONGA

Journal:

Year:

2006

Language:

english

File:

PDF, 1.38 MB

english, 2006

4

Antioxidant Effect of Warfarin Therapy: A Possible Symptomatic Treatment for Erythropoietic Protoporphyria

Winship, Ingrid, Ross, Gayle, Nicoll, Amanda, Hogan, Chris, Leong, Yoke, Varigos, George

Journal:

Archives of Dermatology

Year:

2009

Language:

english

File:

PDF, 48 KB

english, 2009

5

Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned

Duong, Bich-Thu, Savarirayan, Ravi, Winship, Ingrid

Journal:

Familial Cancer

Year:

2016

Language:

english

File:

PDF, 868 KB

english, 2016

6

Preparing for genomic medicine: a real world demonstration of health system change

Gaff, Clara L., M. Winship, Ingrid, M. Forrest, Susan, P. Hansen, David, Clark, Julian, M. Waring, Paul, South, Mike, H. Sinclair, Andrew

Journal:

npj Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 728 KB

english, 2017

7

The influence of unmet supportive care needs on anxiety and depression during cancer treatment and beyond: a longitudinal study of survivors of haematological cancers

Oberoi, Devesh, White, Victoria M., Seymour, John F., Miles Prince, H., Harrison, Simon, Jefford, Michael, Winship, Ingrid, Hill, David, Bolton, Damien, Kay, Anne, Millar, Jeremy, Doo, Nicole Wong, Gi

Journal:

Supportive Care in Cancer

Year:

2017

Language:

english

File:

PDF, 412 KB

english, 2017

8

Marfanoid Habitus, Dysmorphic Features, and Web Neck

LEE, GARY Y. C., WILSON, CALLUM J., WINSHIP, INGRID M., VEALE, ANDREW G.

Journal:

Southern Medical Journal

Year:

2000

File:

PDF, 1.14 MB

2000

9

The use of a risk assessment and decision support tool (CRISP) compared with usual care in general practice to increase risk-stratified colorectal cancer screening: study protocol for a randomised controlled trial

Walker, Jennifer G., Macrae, Finlay, Winship, Ingrid, Oberoi, Jasmeen, Saya, Sibel, Milton, Shakira, Bickerstaffe, Adrian, Dowty, James G., De Abreu Lourenço, Richard, Clark, Malcolm, Galloway, Louise

Journal:

Year:

2018

Language:

english

File:

PDF, 2.29 MB

english, 2018

10

Arrhythmogenic Right Ventricular Cardiomyopathy: A Review of Living and Deceased Probands

Blusztein, David I., Zentner, Dominica, Thompson, Tina, Jayadeva, Pavithra, Liang, Danlu, Wang, Ray, Winship, Ingrid, James, Paul A., Trainer, Alison H., Kalman, Jonathan M., Vohra, Jitendra

Journal:

Heart, Lung and Circulation

Year:

2018

Language:

english

File:

PDF, 462 KB

english, 2018

11

Sequence variation within the RPGR gene: Evidence for a founder complex allele

Ilaria Zito, Alex Morris, Phil Tyson, Ingrid Winship, Dianne Sharp, Dale Gilbert, Dawn L. Thiselton, Shomi S. Bhattacharya, Alison J. Hardcastle

Journal:

Year:

2000

Language:

english

File:

PDF, 66 KB

english, 2000

12

Hierarchical mutation screening protocol for the BRCA1 gene

Madhuri R. Hegde, Belinda Chong, Matthew J. Fawkner, Jenny Leary, Andrew N. Shelling, Bronwyn Culling, Ingrid Winship, Donald R. Love

Journal:

Year:

2000

Language:

english

File:

PDF, 344 KB

english, 2000

13

Supernumerary marker chromosomes 5: Confirmation of a critical region and resultant phenotype

Loredana D'Amato Sizonenko, Daniel Ng, Paul Oei, Ingrid Winship

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 242 KB

english, 2002

14

X-linked inheritance of ocular albinism with late-onset sensorineural deafness

Ingrid Winship, George Gericke, Professor Peter Beighton

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 348 KB

english, 1984

15

Further case report of a child with a 9q34 deletion and a review of the reported cases

Peter Kannu, Ingrid Winship, Salim Aftimos

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 71 KB

english, 2005

16

Novel germline CDH1 mutations in hereditary diffuse gastric cancer families

Bostjan Humar, Tumi Toro, Francesco Graziano, Hansjakob Müller, Zuzana Dobbie, Han Kwang-Yang, Charis Eng, Heather Hampel, Dale Gilbert, Ingrid Winship, Susan Parry, Robyn Ward, Mike Findlay, Alice Ch

Journal:

Year:

2002

Language:

english

File:

PDF, 414 KB

english, 2002

17

Polymorphism in intron 1 of the interferon-gamma gene influences both serum immunoglobulin E levels and the risk for chronic hepatitis B virus infection in Polynesians

William Abbott, Edward Gane, Ingrid Winship, Stephen Munn, Colin Tukuitonga

Journal:

Year:

2007

Language:

english

File:

PDF, 191 KB

english, 2007

18

Familial breast cancer: double heterozygosity for BRCA1 and BRCA2 mutations with differing phenotypes

Margaret Smith, Susan Fawcett, Emanouil Sigalas, Richard Bell, Sophie Devery, Nikolina Andrieska, Ingrid Winship

Journal:

Familial Cancer

Year:

2008

Language:

english

File:

PDF, 220 KB

english, 2008

19

X-linked recessive polyfibromatosis manifesting with spontaneous keloid scars and Dupuytren's contracture

Lena Ly, Ingrid Winship

Journal:

Australasian Journal of Dermatology

Year:

2012

Language:

english

File:

PDF, 176 KB

english, 2012

20

Asthma phenotypes in Niue Islanders

William G. H. ABBOTT, Ingrid M. WINSHIP, Margaret L. WILSHER, Malama NILAU, Colin F. TUKUITONGA

Journal:

Year:

2004

Language:

english

File:

PDF, 148 KB

english, 2004

21

Sotos syndrome — autosomal dominant inheritance substantiated

Ingrid M. Winship

Journal:

Clinical Genetics

Year:

1985

Language:

english

File:

PDF, 248 KB

english, 1985

22

Piebaldism: an autonomous autosomal dominant entity

Ingrid Winship, Karen Young, Robert Martell, Rajkumar Ramesar, Diana Curtis, Peter Beighton

Journal:

Clinical Genetics

Year:

1991

Language:

english

File:

PDF, 665 KB

english, 1991

23

X-Linked Ocular Albinism and Sensorineural Deafness: Linkage to Xp22.3

Ingrid M. Winship, Michelle Babaya, Rajkumar S. Ramesar

Journal:

Year:

1993

File:

PDF, 129 KB

1993

24

Mutational screening of FOXO3A and FOXO1A in women with premature ovarian failure

Wendy J. Watkins, Alexandra J. Umbers, Kathryn J. Woad, Sarah E. Harris, Ingrid M. Winship, Ksenija Gersak, Andrew N. Shelling

Journal:

Fertility and Sterility

Year:

2006

Language:

english

File:

PDF, 76 KB

english, 2006

25

Mutational analysis of BMP15 and GDF9 as candidate genes for premature ovarian failure

Ashwini L. Chand, Anna P. Ponnampalam, Sarah E. Harris, Ingrid M. Winship, Andrew N. Shelling

Journal:

Fertility and Sterility

Year:

2006

Language:

english

File:

PDF, 92 KB

english, 2006

26

Melanoma(s) arising in large segmental speckled lentiginous nevi: A case series

Lena Ly, Michael Christie, Sarah Swain, Ingrid Winship, John William Kelly

Journal:

Journal of the American Academy of Dermatology

Year:

2011

Language:

english

File:

PDF, 696 KB

english, 2011

27

Reply

Lena Ly, Ingrid Winship, John William Kelly

Journal:

Journal of the American Academy of Dermatology

Year:

2012

Language:

english

File:

PDF, 94 KB

english, 2012

28

Controversies and ethical issues in cancer-genetics clinics

Marion Harris, Ingrid Winship, Merle Spriggs

Journal:

The Lancet Oncology

Year:

2005

Language:

english

File:

PDF, 172 KB

english, 2005

29

Lessons from the skin—cutaneous features of familial cancer

Ingrid M Winship, Tracy E Dudding

Journal:

The Lancet Oncology

Year:

2008

Language:

english

File:

PDF, 3.13 MB

english, 2008

30

X-Linked Late-Onset Sensorineural Deafness Caused by a Deletion Involving OA1 and a Novel Gene Containing WD-40 Repeats

Maria T. Bassi, Rajkumar S. Ramesar, Barbara Caciotti, Ingrid M. Winship, Alessandro De Grandi, Mirko Riboni, Philip L. Townes, Peter Beighton, Andrea Ballabio, Giuseppe Borsani

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.15 MB

english, 1999

31

Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing

Alice Rudd, Janine Grant, George Varigos, Vanessa Morgan, Ingrid Winship

Journal:

Australasian Journal of Dermatology

Year:

2012

Language:

english

File:

PDF, 141 KB

english, 2012

32

APALB2mutation associated with high risk of breast cancer

Melissa C Southey, Zhi L Teo, James G Dowty, Fabrice A Odefrey, Daniel J Park, Marc Tischkowitz, Nelly Sabbaghian, Carmel Apicella, Graham B Byrnes, Ingrid Winship, Laura Baglietto, Graham G Giles, Da

Journal:

Breast Cancer Research

Year:

2010

Language:

english

File:

PDF, 913 KB

english, 2010

33

Phenotype in novel Xp duplication

Manju Salaria, Trent Burgess, Stella Setyapranata, Ingrid Winship

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 211 KB

english, 2012

34

Screening practices of Australian men and women categorized as “at or slightly above average risk” of colorectal cancer

Driss Ait Ouakrim, Trevor Lockett, Alex Boussioutas, Louise Keogh, Louisa B. Flander, Ingrid Winship, Graham G. Giles, John L. Hopper, Mark A. Jenkins

Journal:

Cancer Causes & Control

Year:

2012

Language:

english

File:

PDF, 364 KB

english, 2012

35

Accurate and Accessible Genetic Testing for Long QT Syndrome

Lucas Eastaugh, Jitu Vohra, Ivan Macciocca, Dean Phelan, Vanessa Connell, Ingrid Winship, Agnes Bankier, Paul James, Desiree du Sart, Andrew Davis

Journal:

Heart Lung & Circulation

Year:

2008

Language:

english

File:

PDF, 80 KB

english, 2008

36

Hyperplastic Polyposis Syndrome: Phenotypic Presentations and the Role of MBD4 and MYH

Elizabeth Chow, Lara Lipton, Elly Lynch, Rebecca D’Souza, Clelia Aragona, Lindy Hodgkin, Gregor Brown, Ingrid Winship, Melissa Barker, Daniel Buchanan, Shannon Cowie, Steve Nasioulas, Desiree du Sart,

Journal:

Gastroenterology

Year:

2006

Language:

english

File:

PDF, 308 KB

english, 2006

37

The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations

Leigha Senter, Mark Clendenning, Kaisa Sotamaa, Heather Hampel, Jane Green, John D. Potter, Annika Lindblom, Kristina Lagerstedt, Stephen N. Thibodeau, Noralane M. Lindor, Joanne Young, Ingrid Winship

Journal:

Gastroenterology

Year:

2008

Language:

english

File:

PDF, 932 KB

english, 2008

38

Hearing Impairment and Pigmentary Disturbance

PETER BEIGHTON, RAJKUMAR RAMESAR, INGRID WINSHIP, DENIS VILJOEN, JACQUIE GREENBERG, KAREN YOUNG, DIANA CURTIS, SEAN SELLARS

Journal:

Annals of the New York Academy of Sciences

Year:

1991

Language:

english

File:

PDF, 2.06 MB

english, 1991

39

Renal Tumors and Hereditary Pheochromocytoma-Paraganglioma Syndrome Type 4

Gill, Anthony J., Pachter, Nicholas S., Clarkson, Adele, Tucker, Katherine M., Winship, Ingrid M., Benn, Diana E., Robinson, Bruce G., Clifton-Bligh, Roderick J.

Journal:

Boston Medical and Surgical Journal

Year:

2011

Language:

english

File:

PDF, 462 KB

english, 2011

40

Risk of Metachronous Colon Cancer Following Surgery for Rectal Cancer in Mismatch Repair Gene Mutation Carriers

Win, Aung Ko, Parry, Susan, Parry, Bryan, Kalady, Matthew F., Macrae, Finlay A., Ahnen, Dennis J., Young, Graeme P., Lipton, Lara, Winship, Ingrid, Boussioutas, Alex, Young, Joanne P., Buchanan, Danie

Journal:

Annals of Surgical Oncology

Year:

2013

Language:

english

File:

PDF, 286 KB

english, 2013

41

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

Ingles, Jodie, Sarina, Tanya, Yeates, Laura, Hunt, Lauren, Macciocca, Ivan, McCormack, Louise, Winship, Ingrid, McGaughran, Julie, Atherton, John, Semsarian, Christopher

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 688 KB

english, 2013

42

Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?

Win, Aung Ko, Hopper, John L., Buchanan, Daniel D., Young, Joanne P., Tenesa, Albert, Dowty, James G., Giles, Graham G., Goldblatt, Jack, Winship, Ingrid, Boussioutas, Alex, Young, Graeme P., Parry, S

Journal:

European Journal of Cancer

Year:

2013

Language:

english

File:

PDF, 347 KB

english, 2013

43

Hereditary Diffuse Gastric Cancer: Diagnosis and Management

Blair, Vanessa, Martin, Iain, Shaw, David, Winship, Ingrid, Kerr, Dale, Arnold, Julie, Harawira, Pauline, McLeod, Maybelle, Parry, Susan, Charlton, Amanda, Findlay, Michael, Cox, Brian, Humar, Bostjan

Journal:

Clinical Gastroenterology and Hepatology

Year:

2006

Language:

english

File:

PDF, 1.03 MB

english, 2006

44

FSH receptor gene variants are rarely associated with premature ovarian failure

Woad, Kathryn J., Prendergast, Deborah, Winship, Ingrid M., Shelling, Andrew N.

Journal:

Reproductive BioMedicine Online

Year:

2013

Language:

english

File:

PDF, 159 KB

english, 2013

45

Familial cardiological and targeted genetic evaluation: Low yield in sudden unexplained death and high yield in unexplained cardiac arrest syndromes

Kumar, Saurabh, Peters, Stacey, Thompson, Tina, Morgan, Natalie, Maccicoca, Ivan, Trainer, Alison, Zentner, Dominica, Kalman, Jonathan M., Winship, Ingrid, Vohra, Jitendra K.

Journal:

Year:

2013

Language:

english

File:

PDF, 1.10 MB

english, 2013

46

Unmet support needs and distress among women with aBRCA1/2mutation

Farrelly, Ashley, White, Victoria, Meiser, Bettina, Jefford, Michael, Young, Mary-Anne, Ieropoli, Sandra, Winship, Ingrid, Duffy, Jessica

Journal:

Familial Cancer

Year:

2013

Language:

english

File:

PDF, 223 KB

english, 2013

47

Fertility and apparent genetic anticipation in Lynch syndrome

Stupart, Douglas, Win, Aung Ko, Jenkins, Mark, Winship, Ingrid M., Goldberg, Paul, Ramesar, Rajkumar

Journal:

Familial Cancer

Year:

2014

Language:

english

File:

PDF, 318 KB

english, 2014

48

Deficiency in Complement Factor B

Slade, Charlotte, Bosco, Julian, Unglik, Gary, Bleasel, Karl, Nagel, Mato, Winship, Ingrid

Journal:

New England Journal of Medicine

Year:

2013

Language:

english

File:

PDF, 476 KB

english, 2013

49

Should the grading of colorectal adenocarcinoma include microsatellite instability status?

Rosty, Christophe, Williamson, Elizabeth J., Clendenning, Mark, Walters, Rhiannon J., Win, Aung K., Jenkins, Mark A., Hopper, John L., Winship, Ingrid M., Southey, Melissa C., Giles, Graham G., Englis

Journal:

Human Pathology

Year:

2014

Language:

english

File:

PDF, 1.13 MB

english, 2014

50

Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review

Huq, Aamira, Kentwell, Maira, Tirimacco, Amanda, Rossini, Jacqueline, Rawlings, Lesley, Winship, Ingrid

Journal:

Familial Cancer

Year:

2015

Language:

english

File:

PDF, 179 KB

english, 2015