Mary Porteous : rechercher sur Z-Library

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Campagne de collecte 15 septembre 2024 – 1 octobre 2024

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Articles (74)
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1

Relationship between neuropsychiatric disorders and cognitive and behavioural change in MND

McHutchison, Caroline A, Leighton, Danielle Jane, McIntosh, Andrew, Cleary, Elaine, Warner, Jon, Porteous, Mary, Chandran, Siddharthan, Pal, Suvankar, Abrahams, Sharon

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Année:

2020

Fichier:

PDF, 667 KB

2020

2

Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer

Rebecca A. Barnetson, Nicola Cartwright, Annelot van Vliet, Naila Haq, Kate Drew, Susan Farrington, Nicola Williams, Jon Warner, Harry Campbell, Mary E. Porteous, Malcolm G. Dunlop

Journal:

Année:

2008

Langue:

english

Fichier:

PDF, 200 KB

english, 2008

3

Causes, Preventability, and Cost of Unplanned Rehospitalizations Within 30 Days of Discharge Following Lung Transplantation

Courtwright, Andrew M., Zaleski, Derek, Gardo, Lisa, Ahya, Vivek N., Christie, Jason D., Crespo, Maria, Hadjiliadis, Denis, Lee, James, Molina, Maria, Patel, Namrata, Porteous, Mary, Cantu, Edward E.,

Journal:

Transplantation Journal

Année:

2018

Langue:

english

Fichier:

PDF, 1.49 MB

english, 2018

4

The development of a psychoeducational intervention for women living with an increased risk of breast cancer

Sally Appleton, Sixto Garcia-Minaur, Mary Porteous, Joyce Campbell, Elaine Anderson, Maggie Watson, Ann Cull

Journal:

Patient Education and Counseling

Année:

2004

Langue:

english

Fichier:

PDF, 75 KB

english, 2004

5

The Activin Receptor-Like Kinase 1 Gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2

Jonathan N. Berg, Carol J. Gallione, Timothy T. Stenzel, David W. Johnson, William P. Allen, Charles E. Schwartz, Charles E. Jackson, Mary E.M. Porteous, Douglas A. Marchuk

Journal:

The American Journal of Human Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 357 KB

english, 1997

6

The effects of a severe perineal trauma prevention program in an Australian tertiary hospital: An observational study

Borrman, Mary J., Davis, Deborah, Porteous, Alison, Lim, Boon

Journal:

Women and Birth

Année:

2019

Langue:

english

Fichier:

PDF, 281 KB

english, 2019

7

Applying gender-based analysis plus to Employee Assistance Programs: A Canadian perspective

Bartram, Mary, Atanackovic, Jelena, Runnels, Vivien, Bourgeault, Ivy Lynn, Fournier, Chantal, Kovacina, Nikolina, Contant, Alain, MacDonald, Louis, Porteous, Nancy, Renaud, Ariane

Journal:

Journal of Workplace Behavioral Health

Année:

2020

Fichier:

PDF, 2.01 MB

2020

8

Recipe for a Healthy Gut: Intake of Unpasteurised Milk Is Associated with Increased Lactobacillus Abundance in the Human Gut Microbiome

Butler, Mary I., Bastiaanssen, Thomaz F. S., Long-Smith, Caitriona, Berding, Kirsten, Morkl, Sabrina, Cusack, Anne-Marie, Strain, Conall, Busca, Kizkitza, Porteous-Allen, Penny, Claesson, Marcus J., S

Journal:

Année:

2020

Fichier:

PDF, 2.41 MB

2020

9

Clinical phenotype of desmosterolosis

FitzPatrick, David R., Keeling, Jean W., Evans, Margaret J., Kan, Alex E., Bell, Jeanne E., Porteous, Mary E.M., Mills, Kevin, Winter, Robin M., Clayton, Peter T.

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 565 KB

english, 1998

10

Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations

Caroline Hayward, Mary E. Porteous, David J. H. Brock

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 261 KB

english, 1997

11

Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques

Caroline Hayward, Mary E. M. Porteous, David J. H. Brock

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 451 KB

english, 1994

12

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

Emmelien Aten, Lisa C. Brasz, Dorothea Bornholdt, Ingeborg B. Hooijkaas, Mary E. Porteous, Virginia P. Sybert, Maarten H. Vermeer, Rolf H.A.M. Vossen, Michiel J.R. van der Wielen, Egbert Bakker, Marti

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 404 KB

english, 2010

13

Modification of the inverse association between dietary vitamin D intake and colorectal cancer risk by a FokI variant supports a chemoprotective action of Vitamin D intake mediated through VDR binding

Evropi Theodoratou, Susan M. Farrington, Albert Tenesa, Geraldine McNeill, Roseanne Cetnarskyj, Rebecca A. Barnetson, Mary E. Porteous, Malcolm G. Dunlop, Harry Campbell

Journal:

International Journal of Cancer

Année:

2008

Langue:

english

Fichier:

PDF, 155 KB

english, 2008

14

Prenatal diagnosis of fragile X syndrome: Management of the male fetus with a premutation

Lisa Strain, Mary E. M. Porteous, Christine M. Gosden, Patricia M. Ellis, James P. Neilson, David T. Bonthron

Journal:

Prenatal Diagnosis

Année:

1994

Langue:

english

Fichier:

PDF, 538 KB

english, 1994

15

Evidence for genetic heterogeneity in hereditary hydronephrosis caused by pelvi-ureteric junction obstruction, with one locus assigned to chromosome 6p

Luis Izquierdo, Mary Porteous, Pedro G. Paramo, J. Michael Connor

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 318 KB

english, 1992

16

Referrals of patients to colorectal cancer genetics services in south-east Scotland

Susan Holloway, Mary Porteous, Roseanne Cetnarskyj, Robert Rush, Sally Appleton, Dermot Gorman, Harry Campbell

Journal:

Familial Cancer

Année:

2005

Langue:

english

Fichier:

PDF, 251 KB

english, 2005

17

Patients' experiences and views of cascade screening for familial hypercholesterolemia (FH): a qualitative study

Nina Hallowell, Nick Jenkins, Margaret Douglas, Simon Walker, Robert Finnie, Mary Porteous, Julia Lawton

Journal:

Journal of Community Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 2.09 MB

english, 2011

18

Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21

Tenesa, Albert, Farrington, Susan M, Prendergast, James G D, Porteous, Mary E, Walker, Marion, Haq, Naila, Barnetson, Rebecca A, Theodoratou, Evropi, Cetnarskyj, Roseanne, Cartwright, Nicola

Journal:

Nature Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 255 KB

english, 2008

19

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

Jenkins, Zandra A, van Kogelenberg, Margriet, Morgan, Tim, Jeffs, Aaron, Fukuzawa, Ryuji, Pearl, Esther, Thaller, Christina, Hing, Anne V, Porteous, Mary E, Garcia-Miñaur, Sixto

Journal:

Nature Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 502 KB

english, 2008

20

Educating health-care professionals about genetics and genomics

Guttmacher, Alan E., Porteous, Mary E., McInerney, Joseph D.

Journal:

Nature Reviews Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 262 KB

english, 2007

21

Guidelines and care pathways for genetic diseases: the Scottish collaborative project on tuberous sclerosis

Bradshaw, Nicola, Brewer, Carole, FitzPatrick, David, Murray, George, Rodgers, Frances, Porteous, Mary, Campbell, Harry

Journal:

European Journal of Human Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 401 KB

english, 1998

22

Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2

Garcia-Miñaur, Sixto, Mavrogiannis, Lampros A, Rannan-Eliya, Sahan V, Hendry, Michael A, Liston, William A, Porteous, Mary E M, Wilkie, Andrew O M

Journal:

European Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 107 KB

english, 2003

23

Further evidence of genetic heterogeneity in hereditary hydronephrosis

Duncan McHale, Mary E. M. Porteous, John Wentzel, John Bum

Journal:

Clinical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 220 KB

english, 1996

24

A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly

Caroline Hayward, Mary E.M. Porteous, David J.H. Brock

Journal:

Molecular and Cellular Probes

Année:

1994

Fichier:

PDF, 119 KB

1994

25

An introduction to recombinant DNA in medicine, second edition: A. E. H. Emery and S. Malcolm. Published 1995 by John Wiley and Sons Ltd. ISBN 0 471 93984 6, 206 pp. Price £14.95

Journal:

Neuromuscular Disorders

Année:

1996

Langue:

english

Fichier:

PDF, 92 KB

english, 1996

26

Germline Susceptibility to Colorectal Cancer Due to Base-Excision Repair Gene Defects

Susan M. Farrington, Albert Tenesa, Rebecca Barnetson, Alice Wiltshire, James Prendergast, Mary Porteous, Harry Campbell, Malcolm G. Dunlop

Journal:

The American Journal of Human Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 271 KB

english, 2005

27

Reply to Webb et al.

Susan M. Farrington, Albert Tenesa, Rebecca Barnetson, Alice Wiltshire, James Prendergast, Mary Porteous, Harry Campbell, Malcolm G. Dunlop

Journal:

The American Journal of Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 38 KB

english, 2006

28

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative RhoRac guanine nucleotide exchange factor

N. German Pasteris, Amy Cadle, Lindsay J. Logie, Mary E.M. Porteous, Charles E. Schwartz, Roger E. Stevenson, Thomas W. Glover, R. Sid Wilroy, Jerome L. Gorski

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 1.63 MB

english, 1994

29

Statin use and association with colorectal cancer survival and risk: case control study with prescription data linkage

Fatim Lakha, Evropi Theodoratou, Susan M Farrington, Albert Tenesa, Roseanne Cetnarskyj, Farhat V N Din, Mary E Porteous, Malcolm G Dunlop, Harry Campbell

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 201 KB

english, 2012

30

How do index patients participating in genetic screening programmes for familial hypercholesterolemia (FH) interpret their DNA results? A UK-based qualitative interview study

Jenkins, Nicholas, Lawton, Julia, Douglas, Margaret, Walker, Simon, Finnie, Robert, Porteous, Mary, Hallowell, Nina

Journal:

Patient Education and Counseling

Année:

2013

Langue:

english

Fichier:

PDF, 220 KB

english, 2013

31

Hypoxemia in a Patient with Pulmonary Arterial Hypertension. Getting to the Heart of the Matter

Porteous, Mary K., Fritz, Jason S.

Journal:

Annals of the American Thoracic Society

Année:

2014

Langue:

english

Fichier:

PDF, 682 KB

english, 2014

32

Associations between dietary and lifestyle risk factors and colorectal cancer in the Scottish population

Theodoratou, Evropi, Farrington, Susan M, Tenesa, Albert, McNeill, Geraldine, Cetnarskyj, Roseanne, Korakakis, Emmanouil, Din, Farhat V.N., Porteous, Mary E., Dunlop, Malcolm G., Campbell, Harry

Journal:

European Journal of Cancer Prevention

Année:

2014

Langue:

english

Fichier:

PDF, 550 KB

english, 2014

33

Long-Term Attendance at Follow-Up of Women Assessed as Being at Increased Risk of Developing Breast Cancer in South-East Scotland

Holloway, Susan, Porteous, Mary, Cetnarskyj, Roseanne, Anderson, Elaine, Campbell, Joyce, Steel, Michael, Campbell, Harry

Journal:

Community Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 177 KB

english, 2007

34

Six novel mutations in the endoglin gene in hereditary hemorrhagic telangiectasia type 1 suggest a dominant-negative effect of receptor function

McAllister, Kimberly A., Baldwin, Melanie A., Thukkani, Arun K., Gallione, Carol J., Berg, Jonathan N., Porteous, Mary E., Guttmacher, Allan E., Marchuk, Douglas A.

Journal:

Human Molecular Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 1.78 MB

english, 1995

35

Identification and Survival of Carriers of Mutations in DNA Mismatch-Repair Genes in Colon Cancer

Barnetson, Rebecca A., Tenesa, Albert, Farrington, Susan M., Nicholl, Iain D., Cetnarskyj, Roseanne, Porteous, Mary E., Campbell, Harry, Dunlop, Malcolm G.

Journal:

Boston Medical and Surgical Journal

Année:

2006

Langue:

english

Fichier:

PDF, 255 KB

english, 2006

36

Reliability and Validity of Cutaneous Sarcoidosis Outcome Instruments Among Dermatologists, Pulmonologists, and Rheumatologists

Yeung, Howa, Farber, Sara, Birnbaum, Belinda K., Dunham, Jonathan, Ogdie, Alexis, Patterson, Karen C., Payne, Aimee S., Porteous, Mary K., Rossman, Milton D., Sharim, Rebecca, Takeshita, Junko, Werth,

Journal:

JAMA Dermatology

Année:

2015

Langue:

english

Fichier:

PDF, 154 KB

english, 2015

37

Molecular genetics in gastroenterology: from research success to clinical application?

Satsangi, Jack, Campbell, Harry, Dunlop, Malcolm G, Porteous, Mary EM

Journal:

Nature Clinical Practice Gastroenterology & Hepatology

Année:

2005

Langue:

english

Fichier:

PDF, 78 KB

english, 2005

38

Diastolic Dysfunction Increases the Risk of Primary Graft Dysfunction After Lung Transplantation

Porteous, Mary K., Ky, Bonnie, Kirkpatrick, James N., Shinohara, Russell, Diamond, Joshua M, Shah, Rupal J, Lee, James C, Christie, Jason D., Kawut, Steven M.

Journal:

American Journal of Respiratory and Critical Care Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 515 KB

english, 2016

39

The relationship between plasma lipid peroxidation products and primary graft dysfunction after lung transplantation is modified by donor smoking and reperfusion hyperoxia

Diamond, Joshua M., Porteous, Mary K., Jackson Roberts, L., Wickersham, Nancy, Rushefski, Melanie, Kawut, Steven M., Shah, Rupal J., Cantu, Edward, Lederer, David J., Chatterjee, Shampa, Lama, Vibha N

Journal:

The Journal of Heart and Lung Transplantation

Année:

2016

Langue:

english

Fichier:

PDF, 717 KB

english, 2016

40

Improved PCR based methods for detecting C9orf72 hexanucleotide repeat expansions

Cleary, Elaine M., Pal, Suvankar, Azam, Tara, Moore, David J., Swingler, Robert, Gorrie, George, Stephenson, Laura, Colville, Shuna, Chandran, Siddharthan, Porteous, Mary, Warner, Jon P.

Journal:

Molecular and Cellular Probes

Année:

2016

Langue:

english

Fichier:

PDF, 826 KB

english, 2016

41

De novo mutations in autosomal recessive congenital malformations

Black, Holly A., Parry, David, Atanur, Santosh S., Ross, David, Rose, Elaine, Russell, Helen, Stock, Sarah, Warner, Jon, Porteous, Mary, Aitman, Timothy J., Evans, Margaret J.

Journal:

Genetics in Medicine

Année:

2016

Langue:

english

Fichier:

PDF, 512 KB

english, 2016

42

Primary graft dysfunction

Porteous, Mary K., Diamond, Joshua M., Christie, Jason D.

Journal:

Current Opinion in Organ Transplantation

Année:

2015

Langue:

english

Fichier:

PDF, 317 KB

english, 2015

43

Determinants of 6-minute walk distance in patients with idiopathic pulmonary fibrosis undergoing lung transplant evaluation

Porteous, Mary K., Rivera-Lebron, Belinda N., Kreider, Maryl, Lee, James, Kawut, Steven M.

Journal:

Pulmonary Circulation

Année:

2016

Langue:

english

Fichier:

PDF, 516 KB

english, 2016

44

Fetal dysmorphology - still an essential art. Analysis of the limitations of Microarray in a fetal population and a look toward the genome sequencing era.

Fletcher, Elaine, Porteous, Mary, Maher, Eddy, McKenzie, Kathryn J., Evans, Margaret J.

Journal:

Pediatric and Developmental Pathology

Année:

2016

Langue:

english

Fichier:

PDF, 537 KB

english, 2016

45

Interstitial Lung Disease in the Elderly

Patterson, Karen C., Shah, Rupal J., Porteous, Mary K., Christie, Jason D., D’Errico, Carly, Chadwick, Matthew, Triano, Matthew, Deshpande, Charuhas, Rossman, Milton D., Litzky, Leslie A., Kreider, Ma

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 955 KB

english, 2016

46

A qualitative study of patients’ perceptions of the value of molecular diagnosis for familial hypercholesterolemia (FH)

Hallowell, Nina, Jenkins, Nicholas, Douglas, Margaret, Walker, Simon, Finnie, Robert, Porteous, Mary, Lawton, Julia

Journal:

Journal of Community Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 357 KB

english, 2017

47

Genetic epidemiology of motor neuron disease-associated variants in the Scottish population

Black, Holly A., Leighton, Danielle J., Cleary, Elaine M., Rose, Elaine, Stephenson, Laura, Colville, Shuna, Ross, David, Warner, Jon, Porteous, Mary, Gorrie, George H., Swingler, Robert, Goldstein, D

Journal:

Neurobiology of Aging

Année:

2017

Langue:

english

Fichier:

PDF, 632 KB

english, 2017

48

Genetic testing and reproductive choice in neurological disorders

Lee, Omay, Porteous, Mary

Journal:

Practical Neurology

Année:

2017

Langue:

english

Fichier:

PDF, 950 KB

english, 2017

49

Corrigendum to “Genetic epidemiology of motor neuron disease-associated variants in the Scottish population.” [Neurobiol. Aging 51 (2017) 178.e11–178.e20]

Black, Holly A., Leighton, Danielle J., Cleary, Elaine M., Rose, Elaine, Stephenson, Laura, Colville, Shuna, Ross, David, Warner, Jon, Porteous, Mary, Gorrie, George H., Swingler, Robert, Goldstein, D

Journal:

Neurobiology of Aging

Année:

2017

Langue:

english

Fichier:

PDF, 140 KB

english, 2017

50

Clinical Risk Factors and Prognostic Model for Primary Graft Dysfunction after Lung Transplantation in Patients with Pulmonary Hypertension

Porteous, Mary K., Lee, James C, Lederer, David J, Palmer, Scott M, Cantu, Edward, Shah, Rupal J, Bellamy, Scarlett L, Lama, Vibha N., Bhorade, Sangeeta M., Crespo, Maria M, McDyer, John F, Wille, Kei

Journal:

Annals of the American Thoracic Society

Année:

2017

Langue:

english

Fichier:

PDF, 964 KB

english, 2017