Dudding, Tracy: search on Z-Library

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1

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

Khayat, Wujood, Hackett, Anna, Shaw, Marie, Ilie, Alina, Dudding-Byth, Tracy, Kalscheuer, Vera M, Christie, Louise, Corbett, Mark A, Juusola, Jane, Friend, Kathryn L, Kirmse, Brian M, Gecz, Jozef, Fie

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 1.55 MB

english, 2018

2

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability

Dudding-Byth, Tracy, Baxter, Anne, Holliday, Elizabeth G., Hackett, Anna, O’Donnell, Sheridan, White, Susan M., Attia, John, Brunner, Han, de Vries, Bert, Koolen, David, Kleefstra, Tjitske, Ratwatte,

Journal:

BMC Biotechnology

Year:

2017

Language:

english

File:

PDF, 413 KB

english, 2017

3

Missense mutations inITPR1cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Lijia Huang, Jodi Warman Chardon, Melissa T Carter, Kathie L Friend, Tracy E Dudding, Jeremy Schwartzentruber, Ruobing Zou, Peter W Schofield, Stuart Douglas, Dennis E Bulman, Kym M Boycott

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 391 KB

english, 2012

4

A randomized controlled trial of a decision aid for women considering genetic testing for breast and ovarian cancer risk

Claire E. Wakefield, Bettina Meiser, Judi Homewood, Michelle Peate, Alan Taylor, Elizabeth Lobb, Judy Kirk, Mary-Anne Young, Rachel Williams, Tracy Dudding, Kathy Tucker, the AGenDA Collaborative Grou

Journal:

Breast Cancer Research and Treatment

Year:

2008

Language:

english

File:

PDF, 311 KB

english, 2008

5

Atypical Angelman syndrome due to a mosaic imprinting defect: Case reports and review of the literature

Le Fevre, Anna, Beygo, Jasmin, Silveira, Cheryl, Kamien, Benjamin, Clayton-Smith, Jill, Colley, Alison, Buiting, Karin, Dudding-Byth, Tracy

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 266 KB

english, 2017

6

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

Palmer, Elizabeth E., Kumar, Raman, Gordon, Christopher T., Shaw, Marie, Hubert, Laurence, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy, Oufadem, Myriam, Lalani

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.38 MB

english, 2017

7

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

8

Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion

Anne Ronan, Karin Buiting, Tracy Dudding

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 146 KB

english, 2008

9

Risk-reducing surgery in women with familial susceptibility for breast and/or ovarian cancer

Yoland Antill, John Reynolds, Mary-Anne Young, Judy Kirk, Katherine Tucker, Tarli Bogtstra, Shirley Wong, Tracy Dudding, Juliana Di Iulio, Kelly-Anne Phillips

Journal:

European Journal of Cancer

Year:

2006

Language:

english

File:

PDF, 143 KB

english, 2006

10

Carbimazole/methimazole embryopathy in siblings: A possible genetic susceptibility

Goel, Himanshu, Dudding, Tracy

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

2013

Language:

english

File:

PDF, 192 KB

english, 2013

11

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA

van Kogelenberg, Margriet, Clark, Alice R., Jenkins, Zandra, Morgan, Tim, Anandan, Ananda, Sawyer, Gregory M., Edwards, Matthew, Dudding, Tracy, Homfray, Tessa, Castle, Bruce, Tolmie, John, Stewart, F

Journal:

Journal of Molecular Medicine

Year:

2015

Language:

english

File:

PDF, 5.71 MB

english, 2015

12

Narrowing the critical region for overgrowth within 13q14.2-q14.3 microdeletions

Kamien, Benjamin, Digilio, M. Cristina, Novelli, Antonio, O'Donnell, Sheridan, Bain, Nicole, Meldrum, Cliff, Dudding-Byth, Tracy, Scott, Rodney J., Goel, Himanshu

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 558 KB

english, 2015

13

Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia

Hwang, Yun, Dudding, Tracy, Aliaga, Solange, Arpone, Marta, Francis, David, Li, Xin, Slater, Howard, Rogers, Carolyn, Bretherton, Lesley, du Sart, Desirée, Heard, Robert, Godler, David

Journal:

Year:

2016

Language:

english

File:

PDF, 154 KB

english, 2016

14

Maternal factor V Leiden and adverse pregnancy outcome: deciding whether or not to test

Dudding, Tracy E., Attia, John

Journal:

Journal of Maternal-Fetal and Neonatal Medicine

Year:

2012

Language:

english

File:

PDF, 655 KB

english, 2012

15

Response to rebuttal: Meta-analysis of the relationship of factor V Leiden and intrauterine growth restriction – based on solid evidence?

Dudding, Tracy, Attia, John

Journal:

Thrombosis and Haemostasis

Year:

2005

Language:

english

File:

PDF, 53 KB

english, 2005

16

Risk perceptions and knowledge of breast cancer genetics in women at increased risk of developing hereditary breast cancer

Meiser, Bettina, Butow, Phyllis, Barratt, Alexandra, Gattas, Michael, Gaff, Clara, Haan, Eric, Gleeson, Margaret, Dudding, Tracy, Tucker, Katherine

Journal:

Psychology and Health

Year:

2001

Language:

english

File:

PDF, 1.03 MB

english, 2001

17

Somatic-gonadal mosaicism causing Sotos syndrome

Kamien, Benjamin, Dadd, Tessa, Buckman, Melissa, Ronan, Anne, Dudding, Tracy, Meldrum, Cliff, Scott, Rodney, Mina, Kym

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 396 KB

english, 2016

18

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature

Hoa T Truong, Tracy Dudding, Christopher L Blanchard, Sarah H Elsea

Journal:

BMC Medical Genetics

Year:

2010

Language:

english

File:

PDF, 400 KB

english, 2010

19

A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing

Kamien, Benjamin, Ronan, Anne, Poke, Gemma, Sinnerbrink, Ingrid, Baynam, Gareth, Ward, Michelle, Gibson, William T., Dudding-Byth, Tracy, Scott, Rodney J.

Journal:

Molecular Syndromology

Year:

2018

Language:

english

File:

PDF, 254 KB

english, 2018

20

Nevoid hypertrichosis with multiple patches of hair that underwent almost complete spontaneous resolution

Dudding, Tracy E., Rogers, Maureen, Roddick, Laurence G., Relic, John, Edwards, Matthew J.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 75 KB

english, 1998

21

Screening behavior in women at increased familial risk for breast cancer

Yoland C. Antill, John Reynolds, Mary Anne Young, ˙ Judy A. Kirk, Katherine M. Tucker, Tarli L. Bogtstra, ˙ Shirley S. Wong, ˙ Tracy E. Dudding, Juliana L. Di Iulio, Kelly-Anne Phillips

Journal:

Familial Cancer

Year:

2006

Language:

english

File:

PDF, 135 KB

english, 2006

22

Addendum to: The association between adverse pregnancy outcomes and maternal factor V Leiden genotype. A meta-analysis

Attia, John, Dudding, Tracy, Infante-Rivard, Claire

Journal:

Thrombosis and Haemostasis

Year:

2004

File:

PDF, 95 KB

2004

23

The association between adverse pregnancy outcomes and maternal factor V Leiden genotype: a meta-analysis

Dudding, Tracy E., Attia, John

Journal:

Thrombosis and Haemostasis

Year:

2004

Language:

english

File:

PDF, 622 KB

english, 2004

24

IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy

Shoubridge, Cheryl, Harvey, Robert J., Dudding-Byth, Tracy

Journal:

Year:

2018

Language:

english

File:

PDF, 1.54 MB

english, 2018

25

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families

McInerney-Leo, Aideen M., Harris, Jessica E., Gattas, Michael, Peach, Elizabeth E., Sinnott, Stephen, Dudding-Byth, Tracy, Rajagopalan, Sulekha, Barnett, Christopher P., Anderson, Lisa K., Wheeler, La

Journal:

Year:

2016

Language:

english

File:

PDF, 513 KB

english, 2016

26

Orphan diseases: challenges, costs and opportunities – this is why you must do it: a voice for families

Journal:

Year:

2013

Language:

english

File:

PDF, 36 KB

english, 2013

27

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

Oegema, Renske, Cushion, Thomas D., Phelps, Ian G., Chung, Seo-Kyung, Dempsey, Jennifer C., Collins, Sarah, Mullins, Jonathan G.L., Dudding, Tracy, Gill, Harinder, Green, Andrew J., Dobyns, William B.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.18 MB

english, 2015

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