المؤلفون: Justin A. Pater, Jane Green, Darren D. O’Rielly, Anne Griffin, Jessica Squires, Taylor Burt, Sara Fernandez, Bridget Fernandez, Jim Houston, Jiayi Zhou, Nicole M. Roslin, Terry-Lynn Young

المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: Syndromic hearing loss, Usher syndrome, RNA splicing, Knowledge translation, Whole exome sequencing, Genetic isolate, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-019-0777-z; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/cf470daccb0748c6807c7c60886b2a42

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: Alexia Hawkey-Noble, Justin A. Pater, Roshni Kollipara, Meriel Fitzgerald, Alexandre S. Maekawa, Christopher S. Kovacs, Terry-Lynn Young, Curtis R. French

المصدر: Genes; Volume 13; Issue 7; Pages: 1107

مصطلحات موضوعية: foxl1, foxc1, zebrafish, otosclerosis, collagen, osteoporosis, iron binding, bone mineral density

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13071107

الاتاحة: https://doi.org/10.3390/genes13071107

المؤلفون: April Pike (11527824), Sheila Moodie (5128718), Karen Parsons (11527827), Anne Griffin (9943358), Joanne Smith-Young (11527830), Terry-Lynn Young (11527833), Leon Mills (11527836), Myrtle Barrett (11527839), Leanna Rowe (11527842), Marie Parsons (11527845), Henry Kielley (11527848), Michael Fleming (50815)

مصطلحات موضوعية: Medicine, Neuroscience, Biotechnology, Evolutionary Biology, Sociology, Mental Health, Grounded theory, hearing loss, help-seeking, patient-oriented research

Relation: https://figshare.com/articles/journal_contribution/_Something_is_just_not_right_with_my_hearing_early_experiences_of_adults_living_with_hearing_loss/16750512

الاتاحة: https://doi.org/10.6084/m9.figshare.16750512.v1

المؤلفون: Justin A. Pater, Cindy Penney, Darren D. O’Rielly, Anne Griffin, Lara Kamal, Zippora Brownstein, Barbara Vona, Chana Vinkler, Mordechai Shohat, Ortal Barel, Curtis R. French, Sushma Singh, Salem Werdyani, Taylor Burt, Nelly Abdelfatah, Jim Houston, Lance P. Doucette, Jessica Squires, Fabian Glaser, Nicole M. Roslin, Daniel Vincent, Pascale Marquis, Geoffrey Woodland, Touati Benoukraf, Alexia Hawkey-Noble, Karen B. Avraham, Susan G. Stanton, Terry-Lynn Young

المصدر: Human Genetics. 141:431-444

مصطلحات موضوعية: Arthrogryposis, Hearing Loss, Sensorineural, Mutation, Genetics, Humans, ATP-Binding Cassette Transporters, RNA Splice Sites, Deafness, Hearing Loss, 3' Untranslated Regions, Phospholipids, Genetics (clinical), Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca455289d0587f2d98b6a154eee482de
https://doi.org/10.1007/s00439-022-02444-x

المؤلفون: Sushma Singh, Cindy Penney, Anne Griffin, Geoffrey Woodland, Salem Werdyani, Tammy A. Benteau, Nelly Abdelfatah, Jessica Squires, Beverly King, Jim Houston, Matthew J. Dyer, Nicole M. Roslin, Daniel Vincent, Pascale Marquis, Darren D. O’Rielly, Kathy Hodgkinson, Taylor Burt, Ashley Baker, Susan G. Stanton, Terry-Lynn Young

المصدر: European Journal of Human Genetics.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4c045f9526a45272752ced63bf542694
https://doi.org/10.1038/s41431-023-01358-0

المؤلفون: Holly Etchegary, Daryl Pullman, Sean P Connors, Charlene Simmonds, Terry-Lynn Young, Kathy A Hodgkinson

المصدر: JRSM Cardiovascular Disease, Vol 6 (2017)

مصطلحات موضوعية: Diseases of the circulatory (Cardiovascular) system, RC666-701

Relation: https://doi.org/10.1177/2048004017698614; https://doaj.org/toc/2048-0040; https://doaj.org/article/4e061925fccc46208a6a2b2e8c454133

الاتاحة: https://doi.org/10.1177/2048004017698614
https://doaj.org/article/4e061925fccc46208a6a2b2e8c454133

المؤلفون: Cassidy Brothers, Holly Etchegary, Fiona Curtis, Charlene Simmonds, Jim Houston, Terry-Lynn Young, Daryl Pullman, Hensley H. Mariathas, Sean Connors, Kathleen Hodgkinson

المصدر: Public Health Genomics. 24:253-260

مصطلحات موضوعية: education.field_of_study, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Population, Public Health, Environmental and Occupational Health, Psychological distress, Right ventricular cardiomyopathy, Distress, Quality of life, Internal medicine, medicine, Anxiety, medicine.symptom, education, Prospective cohort study, business, Genetics (clinical), Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::86b1bf5a83e8b36f1fe1448d6f662d57
https://doi.org/10.1159/000517265

المؤلفون: S. Stuckless, Frédéric L. Paulin, Sarah MacLaughlan, Sean Connors, Christina Templeton, Patrick S. Parfrey, Heather Bremner, Kathleen A. Hodgkinson, Jason D. Roberts, Terry-Lynn Young, Suryakant Shah

المصدر: Heart Rhythm. 17:1159-1166

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, medicine.medical_treatment, DNA Mutational Analysis, Cardiomyopathy, 030204 cardiovascular system & hematology, Right ventricular cardiomyopathy, Metabolic equivalent, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Physiology (medical), Internal medicine, medicine, Humans, Prospective Studies, 030212 general & internal medicine, Exercise, Arrhythmogenic Right Ventricular Dysplasia, Arrhythmic risk, Proportional hazards model, business.industry, Membrane Proteins, DNA, Implantable cardioverter-defibrillator, medicine.disease, 3. Good health, Icd implantation, Primary Prevention, Phenotype, Increased risk, Mutation, Cardiology, Female, Cardiology and Cardiovascular Medicine, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f78e0f18d86b0a77a49c4eb0036a99a9
https://doi.org/10.1016/j.hrthm.2020.02.028

المؤلفون: Alexia, Hawkey-Noble, Justin A, Pater, Roshni, Kollipara, Meriel, Fitzgerald, Alexandre S, Maekawa, Christopher S, Kovacs, Terry-Lynn, Young, Curtis R, French

المصدر: Genes. 13(7)

مصطلحات موضوعية: Mammals, Cartilage, Otosclerosis, Mutation, Animals, Osteoporosis, Biomarkers, Zebrafish

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::aa2a672efcf18bed082495b686f0fdd1
https://pubmed.ncbi.nlm.nih.gov/35885890

المؤلفون: Nicole M. Roslin, Lance P. Doucette, Sushma Singh, Ortal Barel, Curtis R. French, Jessica Squires, Terry-Lynn Young, Darren D. O’Rielly, Nelly Abdelfatah, Mordechai Shohat, Cindy Penney, Anne Griffin, Justin A. Pater, Daniel Vincent, Geoffrey Woodland, Pascale Marquis, Taylor Burt, Jim Houston, Salem Werdyani, Susan G. Stanton

مصطلحات موضوعية: Genetics, chemistry.chemical_compound, chemistry, Hearing loss, RNA splicing, Phospholipid, medicine, Flippase, medicine.symptom, Biology, Gene, Non syndromic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::af62a3e60d6f5d73161401e4fa8fe1cd
https://doi.org/10.21203/rs.3.rs-530835/v1

المؤلفون: Anne Griffin, Tammy Benteau, Sumit K. Agrawal, Cindy Penney, Christopher N. Rowley, Courtney MacDonald, Valerie Booth, Lorne S. Parnes, Ahmed A. Mostafa, Susan J Moore, Terry-Lynn Young, Lisbeth Tranebjærg, Tony Batten, Darren D. O’Rielly, Matthew B. Lucas, Curtis R. French, Leichelle A. Little, Nanna Dahl Rendtorff, Jim Houston, Pingzhao Hu, Justin A. Pater, Danielle French, Susan G. Stanton, Dante Galutira, Kathy Hodgkinson, Nelly Abdelfatah, Lance P. Doucette, Jessica E. Besaw

المصدر: Abdelfatah, N, Mostafa, A A, French, C R, Doucette, L P, Penney, C, Lucas, M B, Griffin, A, Booth, V, Rowley, C, Besaw, J E, Tranebjærg, L, Rendtorff, N D, Hodgkinson, K A, Little, L A, Agrawal, S, Parnes, L, Batten, T, Moore, S, Hu, P, Pater, J A, Houston, J, Galutira, D, Benteau, T, MacDonald, C, French, D, O’Rielly, D D, Stanton, S G & Young, T L 2022, ' A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene ', Human Genetics, vol. 141, pp. 965–979 . https://doi.org/10.1007/s00439-021-02381-1

مصطلحات موضوعية: Genetics, 0303 health sciences, Molecular pathology, Hearing loss, Wild type, Locus (genetics), Forkhead Transcription Factors, Biology, medicine.disease, Phenotype, 03 medical and health sciences, 0302 clinical medicine, Otosclerosis, Gene cluster, medicine, Humans, medicine.symptom, 030223 otorhinolaryngology, Gene, Genetics (clinical), 030304 developmental biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bf6cfb0bb7f5d5a0bba921775b726b4
https://pubmed.ncbi.nlm.nih.gov/34633540

المؤلفون: Cassidy, Brothers, Holly, Etchegary, Fiona, Curtis, Charlene, Simmonds, Jim, Houston, Terry-Lynn, Young, Daryl, Pullman, Hensley H, Mariathas, Sean, Connors, Kathleen, Hodgkinson

المصدر: Public health genomics. 24(5-6)

مصطلحات موضوعية: Canada, Quality of Life, Humans, Membrane Proteins, Pilot Projects, Genetic Testing, Prospective Studies, Psychological Distress, Arrhythmogenic Right Ventricular Dysplasia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::94c3679bf4fb918e0df26c176e1e5b7c
https://pubmed.ncbi.nlm.nih.gov/34500452

المؤلفون: Terry-Lynn Young, Darren D. O’Rielly, Jim Houston, Justin A. Pater, Donna Bautista, Jane Green, Hoda Rajabi, James Whelan, Nelly Abdelfatah, Tammy Benteau, Amy Sheaves, Dante Galutira

المصدر: Eur J Hum Genet

مصطلحات موضوعية: Male, Population, ABCA4, Article, Gene Frequency, Genetics, medicine, Humans, Stargardt Disease, Allele, education, Genetics (clinical), education.field_of_study, biology, Haplotype, Homozygote, medicine.disease, Human genetics, Founder Effect, Pedigree, Stargardt disease, Mutation, biology.protein, ATP-Binding Cassette Transporters, Female, Genetic isolate, Founder effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::254b0735b14bd4d73f59a0b771571194
https://europepmc.org/articles/PMC7316815/

المؤلفون: Zubair M Ahmed, Xiaoyan Cindy Li, Shontell D Powell, Saima Riazuddin, Terry-lynn Young, Khushnooda Ramzan, Zahoor Ahmad, Ra Luscombe, Kiran Dhillon, Linda Maclaren, Barbara Ploplis, Thomas B Friedman, Robert J Morell, Edward R Wilcox

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/64/79/BMC_Med_Genet_2004_Sep_24_5_24.tar.gz

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.284.8897

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.284.8897

المؤلفون: Jessica Squires, Justin A. Pater, Terry-Lynn Young, Jiayi Zhou, Nicole M. Roslin, Sara Fernandez, Taylor Burt, Bridget A. Fernandez, Anne Griffin, Jane Green, Jim Houston, Darren D. O’Rielly

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-9 (2019)

مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Male, lcsh:Internal medicine, Pediatrics, medicine.medical_specialty, lcsh:QH426-470, RNA splicing, Genotype, Hearing loss, Usher syndrome, media_common.quotation_subject, Nonsense, 030105 genetics & heredity, Knowledge translation, 03 medical and health sciences, Deaf-Blind Disorders, Retinitis pigmentosa, Genetics, medicine, otorhinolaryngologic diseases, Humans, lcsh:RC31-1245, Child, Genetics (clinical), Exome sequencing, Genetic isolate, media_common, Syndromic hearing loss, business.industry, Cytogenetics, Whole exome sequencing, medicine.disease, Human genetics, 3. Good health, Pedigree, lcsh:Genetics, 030104 developmental biology, Phenotype, Child, Preschool, Female, medicine.symptom, business, Usher Syndromes, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84c883536cc7d834c974477cf19cda9a
http://europepmc.org/articles/PMC6498547

المؤلفون: Daryl Pullman, Kathy Hodgkinson, Terry-Lynn Young, Holly Etchegary, Charlene Simmonds

المصدر: Clinical Genetics. 88:344-351

مصطلحات موضوعية: medicine.diagnostic_test, business.industry, Context (language use), Disease, medicine.disease, Right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia, Sudden cardiac death, Mutation (genetic algorithm), Genetics, medicine, business, Psychosocial, Genetics (clinical), Clinical psychology, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e9e6497f7730541ad207dfb108594449
https://doi.org/10.1111/cge.12513

المؤلفون: Patrick S. Parfrey, Anne S. Bassett, Sean Connors, Annika F.M. Haywood, Terry-Lynn Young, William J. McKenna, Fiona Curtis, Barry Gallagher, Nancy D. Merner, Kathy Hodgkinson

المصدر: Clinical Genetics. 83:321-331

مصطلحات موضوعية: medicine.medical_specialty, Holter monitor, medicine.diagnostic_test, business.industry, Cardiomyopathy, Dilated cardiomyopathy, Disease, medicine.disease, Right ventricular cardiomyopathy, Natural history, Endocrinology, Internal medicine, Heart failure, Genetics, medicine, Cardiology, Age of onset, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7cc8f19e6312ed77ae2e4864a8e46b48
https://doi.org/10.1111/j.1399-0004.2012.01919.x

المؤلفون: Carol Negrijn, Anne Griffin, Susan J Moore, Mani Larijani, Lance P. Doucette, Justin J. King, David A McComiskey, Jim Houston, Kathy Hodgkinson, Terry-Lynn Young, Susan G. Stanton, Nelly Abdelfatah

المصدر: European Journal of Human Genetics. 21:1112-1119

مصطلحات موضوعية: Male, Hearing Loss, Sensorineural, Genetic counseling, Molecular Sequence Data, Locus (genetics), Biology, Article, Connexins, Genetic Heterogeneity, Genetic linkage, Genetics, Humans, Amino Acid Sequence, Allele, TECTA, Genetics (clinical), Phenocopy, KCNQ Potassium Channels, Genetic heterogeneity, Protein Structure, Tertiary, Connexin 26, Female, Lod Score, Gene Deletion, KCNQ4

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e9b0a4605fda2a8ca853d3b83b9eb16
https://doi.org/10.1038/ejhg.2013.5

المؤلفون: Sean Connors, Terry-Lynn Young, A.J. Howes, Ashley Collier, Patrick S. Parfrey, Paul Boland, Fiona Curtis, S. Stuckless, Kathleen A. Hodgkinson, Xiou Seegar Shen

المصدر: Circulation: Arrhythmia and Electrophysiology. 9

مصطلحات موضوعية: Male, 0301 basic medicine, Heredity, Time Factors, medicine.medical_treatment, DNA Mutational Analysis, Kaplan-Meier Estimate, 030204 cardiovascular system & hematology, Ventricular tachycardia, Electrocardiography, 0302 clinical medicine, Risk Factors, Secondary Prevention, Arrhythmogenic Right Ventricular Dysplasia, medicine.diagnostic_test, Age Factors, Middle Aged, Implantable cardioverter-defibrillator, Defibrillators, Implantable, Pedigree, Arrhythmogenic right ventricular dysplasia, Primary Prevention, Phenotype, Treatment Outcome, Ventricular Fibrillation, Cardiology, Female, Cardiology and Cardiovascular Medicine, Adult, medicine.medical_specialty, Electric Countershock, Right ventricular cardiomyopathy, 03 medical and health sciences, Sex Factors, Physiology (medical), Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Survival rate, Proportional Hazards Models, Retrospective Studies, business.industry, Patient Selection, Membrane Proteins, medicine.disease, Confidence interval, Death, Sudden, Cardiac, 030104 developmental biology, Mutation, Ventricular fibrillation, Tachycardia, Ventricular, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dd14d8be98dc2b42bc989bae7dad0bf
https://doi.org/10.1161/circep.115.003589