المؤلفون: Jaclyn Hynes, Andrée MacMillan, Sara Fernandez, Karen Jacob, Shannon Carter, Sarah Predham, Holly Etchegary, Lesa Dawson

المصدر: Hereditary Cancer in Clinical Practice, Vol 18, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Genetic counseling, Inherited cancers, Hereditary breast ovarian, Lynch syndrome, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13053-020-0136-2; https://doaj.org/toc/1897-4287

URL الوصول: https://doaj.org/article/16aa3d15b3194d3fb8fe8446207a162e

المؤلفون: Elizabeth Dicks, Daryl Pullman, Ken Kao, Andrée MacMillan, Gabrielle S. Logan, Charlene Simmonds, Holly Etchegary

المصدر: Cancer Medicine, Vol 8, Iss 7, Pp 3614-3622 (2019)

مصطلحات موضوعية: Colorectal Neoplasms, tumor screening, genetic counseling, Lynch syndrome, pathologists, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-7634

URL الوصول: https://doaj.org/article/d505b81026e84773b564e3586dee13af

المؤلفون: Lesa M. Dawson, Kerri N. Smith, Salem Werdyani, Robyn Ndikumana, Cindy Penney, Louisa L. Wiede, Kendra L. Smith, Justin A. Pater, Andrée MacMillan, Jane Green, Sheila Drover, Terry‐Lynn Young, Darren D. O’Rielly

المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)

مصطلحات موضوعية: founder variant, hereditary breast and ovarian cancer, RAD51C, splicing, variant of uncertain significance, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/85df780709ba4208b36038099c41da29

المؤلفون: A Lauren Cason, Merran Finnis, Marie Mangelsdorf, Elke Holinski-feder, David Macgregor, Andrée Macmillan, Jeanette Ja Holden, Jozef Gecz, Roger E Stevenson, Charles E Schwartz

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/a8/f7/BMC_Med_Genet_2005_Apr_25_6_16.tar.gz

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.283.6052

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.283.6052

المؤلفون: Pardeep Kaurah, Sam S. Yoon, I. Lewis, David G. Huntsman, K. Chelcun-Schreiber, Aline Talhouk, Andrée MacMillan

المصدر: Fam Cancer

مصطلحات موضوعية: 0301 basic medicine, Male, Cancer Research, medicine.medical_specialty, 030105 genetics & heredity, Anxiety, Article, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Postoperative Complications, Quality of life, Gastrectomy, Stomach Neoplasms, Internal medicine, Epidemiology, Genetics, medicine, Global health, Humans, Genetics (clinical), Retrospective Studies, Gynecology, business.industry, Depression, Body Weight, Cancer, Prophylactic Surgical Procedures, Length of Stay, Middle Aged, medicine.disease, humanities, Long-term care, Treatment Outcome, Oncology, Patient Satisfaction, 030220 oncology & carcinogenesis, Cohort, Quality of Life, Female, Laparoscopy, Hereditary diffuse gastric cancer, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f0b271700daa6dd17c4261bc6206d68
https://pubmed.ncbi.nlm.nih.gov/31273560

المؤلفون: Bryan Lo, Tracy Stockley, G M Yousef, Andrée MacMillan, A. Spatz, Jeanna McCuaig, Shantanu Banerji, Iyare Izevbaye, M. R. Downes, A Christofides, S Yip

المصدر: Current Oncology
Volume 26
Issue 2
Pages 4731-254

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Canada, somatic variants, Best practice, Genomics, Medical Oncology, Unmet needs, Workflow, 03 medical and health sciences, 0302 clinical medicine, Patient Education as Topic, Internal medicine, Neoplasms, medicine, Humans, guidelines, 030212 general & internal medicine, Molecular Targeted Therapy, business.industry, Communication, Computational Biology, High-Throughput Nucleotide Sequencing, sequencing, Guideline, molecular genomics, Patient management, Clinical trial, Practice Guideline, 030220 oncology & carcinogenesis, oncologists, Practice Guidelines as Topic, Next-generation sequencing, DECIPHER, pathology, Molecular Profile, Immunotherapy, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cef60db8ce7b146e3223e5753cf0992d
https://europepmc.org/articles/PMC6476432/

المؤلفون: Ken Kao, Holly Etchegary, Andrée MacMillan, Daryl Pullman, Charlene Simmonds, Elizabeth Dicks

مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, education.field_of_study, Epidemiology, Colorectal cancer, business.industry, Public health, Genetic counseling, 030305 genetics & heredity, Population, Public Health, Environmental and Occupational Health, medicine.disease, Lynch syndrome, 03 medical and health sciences, 0302 clinical medicine, Informed consent, 030220 oncology & carcinogenesis, Family medicine, medicine, Original Article, business, education, Genetics (clinical), Patient education

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5376249d300c78adf10f67e684cab74a
https://europepmc.org/articles/PMC6591350/

المؤلفون: Jennifer Nuk, Carol Cremin, Kathleen Claes, Wendy McKinnon, Martin Trbusek, Anne Vral, Lenka Foretova, Sean D. Young, Annelot Baert, Ilse Coene, Tom Van Maerken, William D. Foulkes, Marie Jill Asrat, Ana Vega, Marie E. Wood, Andrée MacMillan, Miguel de la Hoya, Bruce Poppe, Kim De Leeneer, Allison Mindlin, Toon Rosseel, Cheryl Portigal-Todd, Marta Santamariña, Kristin Turner, Eva Machackova

المصدر: Human Mutation

مصطلحات موضوعية: 0301 basic medicine, DNA, Complementary, In silico, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, Computational biology, Biology, 03 medical and health sciences, Exon, Genetics, Humans, Computer Simulation, splice, RNA, Messenger, Genetics (clinical), Ovarian Neoplasms, Breakpoint, Alternative splicing, Intron, Genetic Variation, Exons, Alternative Splicing, 030104 developmental biology, Mutation, RNA splicing, Female, RNA Splice Sites, Tandem exon duplication

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0477752b3f34c5744edd52707a5ba357

المؤلفون: George Zogopoulos, Pardeep Kaurah, Sohrab P. Shah, Michelle M.M. Woo, Kasmintan A. Schrader, Janine Senz, Aline Talhouk, Carlos Caldas, G. Keller, Cydney B. Nielsen, Isabel Claro, Amy Lum, Hugo Pinheiro, Katie Baker-Lange, Andrée MacMillan, Carla Oliveira, Hector Li-Chang, Parry Guilford, Samantha Hansford, Sarah Padilla, David F. Schaeffer, Teresa Almeida Santos, Franco Roviello, Erin Pennell, Giovanni Corso, David G. Huntsman, Ivy Lewis, Bridget A. Fernandez, Paul D.P. Pharoah, Steven Gallinger, Noralane M. Lindor, Karey Shumansky, Susan Richardson, Henry T. Lynch, Joana Carvalho

المصدر: JAMA oncology. 1(1)

مصطلحات موضوعية: Adult, Male, Cancer Research, Canada, Heredity, PALB2, DNA Mutational Analysis, STK11, Breast Neoplasms, Penetrance, Bioinformatics, medicine.disease_cause, Risk Assessment, Young Adult, Germline mutation, Breast cancer, Age Distribution, Sex Factors, Antigens, CD, Predictive Value of Tests, Risk Factors, Stomach Neoplasms, medicine, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Sex Distribution, Germ-Line Mutation, Aged, Aged, 80 and over, Mutation, business.industry, Incidence, Age Factors, Cancer, Middle Aged, medicine.disease, Cadherins, Pedigree, Europe, Phenotype, Oncology, Female, Hereditary diffuse gastric cancer, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e56b4f4a9149bdd06c1b18ea85fa9bad
https://pubmed.ncbi.nlm.nih.gov/26182313

المؤلفون: Pardeep Kaurah, Andree Macmillan, Niki Boyd, Janine Senz, Alessandro De Luca, Nicki Chun, Gianpaolo Suriano, Sonya Zaor, Lori Van Manen, Cathy Gilpin, Sarah Nikkel, Mary Connolly Wilson, Scott Weissman, Wendy S. Rubinstein, Courtney Sebold, Robert Greenstein, Jennifer Stroop, Dwight Yim, Benoit Panzini, Wendy Mckinnon, Marc Greenblatt, Debrah Wirtzfeld, Daniel Fontaine, Daniel Coit, Sam Yoon, Daniel Chung, Gregory Lauwers, Carlos Vaccaro, Maria Ana Redal, Carla Oliveira, Marc Tischkowitz, Sylviane Olschwang, Steven Gallinger, Henry Lynch, Jane Green, James Ford, Paul Pharoah, Bridget Fernandez, David Huntsman, PIZZUTI, Antonio

المساهمون: Pardeep, Kaurah, Andree, Macmillan, Niki, Boyd, Janine, Senz, Alessandro De, Luca, Nicki, Chun, Gianpaolo, Suriano, Sonya, Zaor, Lori Van, Manen, Cathy, Gilpin, Sarah, Nikkel, Mary Connolly, Wilson, Scott, Weissman, Wendy S., Rubinstein, Courtney, Sebold, Robert, Greenstein, Jennifer, Stroop, Dwight, Yim, Benoit, Panzini, Wendy, Mckinnon, Marc, Greenblatt, Debrah, Wirtzfeld, Daniel, Fontaine, Daniel, Coit, Sam, Yoon, Daniel, Chung, Gregory, Lauwer, Pizzuti, Antonio, Carlos, Vaccaro, Maria Ana, Redal, Carla, Oliveira, Marc, Tischkowitz, Sylviane, Olschwang, Steven, Gallinger, Henry, Lynch, Jane, Green, James, Ford, Paul, Pharoah, Bridget, Fernandez, David, Huntsman

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/17545690; info:eu-repo/semantics/altIdentifier/wos/WOS:000247007200018; volume:297; issue:21; firstpage:2360; lastpage:2372; numberofpages:13; journal:JAMA; http://hdl.handle.net/11573/366499; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-34249989159; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000247007200018&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a; http://www.scopus.com/inward/record.url?eid=2-s2.0-34249989159&partnerID=65&md5=10e5039f9bba75c0b88aea468686d4c1

الاتاحة: http://hdl.handle.net/11573/366499
https://doi.org/10.1001/jama.297.21.2360
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000247007200018&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a
http://www.scopus.com/inward/record.url?eid=2-s2.0-34249989159&partnerID=65&md5=10e5039f9bba75c0b88aea468686d4c1

المؤلفون: Andrée MacMillan, Stephen W. Scherer, Krista Mahoney, Jane Green, Michael O. Woods, Ford Bursey, Sarah McColl, Sergio L. Pereira, Proton Rahman, Sara Fernandez, Brendan J. Barrett, Kym M. Boycott, Bridget A. Fernandez

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 13, Iss 1, p 111 (2012)

مصطلحات موضوعية: Adult, Male, Exome sequencing, lcsh:Internal medicine, SLC45A2, Neutropenia, lcsh:QH426-470, Albinism, G6PC3, Inflammatory bowel disease, 03 medical and health sciences, 0302 clinical medicine, Oculocutaneous albinism type 4, Oculocutaneous albinism type 4 (OCA4), Genetics, medicine, Humans, Genetics(clinical), lcsh:RC31-1245, Congenital Neutropenia, Genetics (clinical), 030304 developmental biology, 0303 health sciences, biology, Siblings, Homozygote, Disease gene identification, medicine.disease, Severe congenital neutropenia type 4 (SCN4), 3. Good health, Pedigree, G6PC3 protein, lcsh:Genetics, Phenotype, Albinism, Oculocutaneous, SLC45A2 protein, 030220 oncology & carcinogenesis, Mutation, biology.protein, Glucose-6-Phosphatase, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82728f973bf212bb534f1278aa4921e8
https://pubmed.ncbi.nlm.nih.gov/23171239

المؤلفون: Benedikt Schoser, Grainne S. Gorman, Kieren G. Hollingsworth, Elke Holinski-Feder, Andrée MacMillan, Sabine Krause, Peter Reilich, Lesley Turner, Gregor Witte, Volkmar Hans, Michael I. Trenell, Douglass M. Turnbull, Annette Schollen, Rita Horvath, Birgit Czermin, Nicolai Schramm, Hanns Lochmüller, Maggie C. Walter, Jens Reimann

المصدر: Journal of neurology. 258(11)

مصطلحات موضوعية: Adult, Male, Cell type, medicine.medical_specialty, DNA Mutational Analysis, Cardiomyopathy, Lipid Metabolism, Inborn Errors, Muscular Diseases, Lipid droplet, Internal medicine, medicine, Humans, Myopathy, Muscle, Skeletal, biology, Ichthyosis, Cardiac muscle, Lipase, Ichthyosiform Erythroderma, Congenital, medicine.disease, Magnetic Resonance Imaging, Neutral lipid storage disease, medicine.anatomical_structure, Endocrinology, Phenotype, Neurology, Mutation, biology.protein, Creatine kinase, Female, Neurology (clinical), medicine.symptom

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fb0822ff6ec999c846cc96d5eab704a
https://pubmed.ncbi.nlm.nih.gov/21544567

المؤلفون: Xiaogang Wen, Fátima Carneiro, Ford Bursey, Pardeep Kaurah, Jane Green, Pamela Hebbard, A. Kwan, D Boone, D Fontaine, David G. Huntsman, Andrée MacMillan, Debrah Wirtzfeld, Bridget A. Fernandez

المصدر: Annals of Surgical Oncology

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Newfoundland and Labrador, medicine.medical_treatment, Gastroenterology, Surgical oncology, Antigens, CD, Gastrectomy, Neoplastic Syndromes, Hereditary, Stomach Neoplasms, Internal medicine, medicine, Carcinoma, Humans, Genetic Predisposition to Disease, Retrospective Studies, medicine.diagnostic_test, Gastrointestinal Oncology, business.industry, Cancer, Retrospective cohort study, Middle Aged, medicine.disease, Cadherins, Penetrance, Endoscopy, Oncology, Mutation, Surgery, Female, Hereditary diffuse gastric cancer, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::520596bd56d1ada383c757c6d307257c
https://pubmed.ncbi.nlm.nih.gov/19636637

المؤلفون: Benoit Panzini, Niki Boyd, Cathy Gilpin, Sam S. Yoon, Sonya Zaor, Daniel Fontaine, Sylviane Olschwang, Sarah M. Nikkel, Jane Green, Carla Oliveira, Maria Ana Redal, Daniel G. Coit, Gregory Y. Lauwers, Lori Van Manen, David G. Huntsman, Pardeep Kaurah, Debrah Wirtzfeld, Paul D.P. Pharoah, Wendy S. Rubinstein, Jennifer Stroop, Antonio Pizzuti, Alessandro De Luca, Andrée MacMillan, Janine Senz, James M. Ford, Bridget A. Fernandez, Marc S. Greenblatt, Steven Gallinger, Carlos A. Vaccaro, Robert M. Greenstein, Daniel C. Chung, Wendy McKinnon, Scott M. Weissman, Courtney Sebold, Mary Connolly-Wilson, Marc Tischkowitz, Henry T. Lynch, Gianpaolo Suriano, Nicki Chun, Dwight Yim

مصطلحات موضوعية: Oncology, Adult, Male, Pathology, medicine.medical_specialty, Heterozygote, Newfoundland and Labrador, Genetic counseling, DNA Mutational Analysis, Genetic Counseling, Penetrance, Germline mutation, Breast cancer, Antigens, CD, Stomach Neoplasms, Internal medicine, Medicine, Missense mutation, Humans, Age of Onset, Germ-Line Mutation, Aged, Aged, 80 and over, business.industry, Genetic Carrier Screening, Haplotype, Cancer, General Medicine, Middle Aged, medicine.disease, Cadherins, Founder Effect, Pedigree, Haplotypes, Mutation, Female, Hereditary diffuse gastric cancer, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f732fdbdb7380430fbb258a8fb011312
http://hdl.handle.net/11573/366499

المؤلفون: A. Lauren Cason, Jozef Gecz, Charles E. Schwartz, Monica L. Stepp, Jeanette J. A. Holden, David Macgregor, Roger E. Stevenson, Marie Mangelsdorf, Merran Finnis, Andrée MacMillan, Elke Holinski-Feder

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 6, Iss 1, p 16 (2005)

مصطلحات موضوعية: Male, lcsh:Internal medicine, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, lcsh:QH426-470, Biology, 03 medical and health sciences, Exon, Gene Duplication, Gene duplication, medicine, Genetics, Humans, Genetics(clinical), Genetic Testing, lcsh:RC31-1245, Gene, Genetics (clinical), 030304 developmental biology, Genetic testing, Homeodomain Proteins, 0303 health sciences, Chromosomes, Human, X, medicine.diagnostic_test, Genetic Carrier Screening, 030305 genetics & heredity, Cytogenetics, West Syndrome, Human genetics, lcsh:Genetics, Mutation (genetic algorithm), Mutation, Mental Retardation, X-Linked, Female, Transcription Factors, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf825d3349021a4219e9819875619bb6
https://pubmed.ncbi.nlm.nih.gov/15850492

المؤلفون: N. Wadden, Pamela Hebbard, A. Kwan, Andrée MacMillan, Jane Green, K. Laing, J. McCarthy, Debrah Wirtzfeld, Bridget A. Fernandez

المصدر: Cancer Research. 69:904-904

مصطلحات موضوعية: Oncology, Cancer Research, medicine.medical_specialty, biology, business.industry, Cancer, medicine.disease, CDH1, Germline mutation, Breast cancer, Internal medicine, medicine, Cancer research, biology.protein, Hereditary diffuse gastric cancer, business, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a07cfd6843943195cfb858b48c23a68b
https://doi.org/10.1158/0008-5472.sabcs-09-904