المؤلفون: Yiming Wu, Kyle Gettler, Meltem Ece Kars, Mamta Giri, Dalin Li, Cigdem Sevim Bayrak, Peng Zhang, Aayushee Jain, Patrick Maffucci, Ksenija Sabic, Tielman Van Vleck, Girish Nadkarni, Lee A. Denson, Harry Ostrer, Adam P. Levine, Elena R. Schiff, Anthony W. Segal, Subra Kugathasan, Peter D. Stenson, David N. Cooper, L. Philip Schumm, Scott Snapper, Mark J. Daly, Talin Haritunians, Richard H. Duerr, Mark S. Silverberg, John D. Rioux, Steven R. Brant, Dermot P. B. McGovern, Judy H. Cho, Yuval Itan

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/9b4ce2bc11f1400dba2682d34318447c

المؤلفون: Paul W. Chrystal, Nils J. Lambacher, Lance P. Doucette, James Bellingham, Elena R. Schiff, Nicole C. L. Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A. Casey, Yi Zhai, Nathan J. Nadolski, Mohammed H. Majumder, Julia Tagoe, Fabiana D’Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie Ellingford, Genomics England Research Consortium, Omar A. Mahroo, Jennifer C. Hocking, Michael E. Cheetham, Andrew R. Webster, Gert Jansen, Oliver E. Blacque, W. Ted Allison, Ping Yee Billie Au, Ian M. MacDonald, Gavin Arno, Michel R. Leroux

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-22 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/a85ce5f9aafc4ed1a65a7a9f8a648d61

المؤلفون: Mubeen Khan, Gavin Arno, Ana Fakin, David A. Parfitt, Patty P.A. Dhooge, Silvia Albert, Nathalie M. Bax, Lonneke Duijkers, Michael Niblock, Kwan L. Hau, Edward Bloch, Elena R. Schiff, Davide Piccolo, Michael C. Hogden, Carel B. Hoyng, Andrew R. Webster, Frans P.M. Cremers, Michael E. Cheetham, Alejandro Garanto, Rob W.J. Collin

المصدر: Molecular Therapy: Nucleic Acids, Vol 21, Iss , Pp 412-427 (2020)

مصطلحات موضوعية: ABCA4, antisense oligonucleotides, intronic mutations, splicing, Stargardt disease, iPSC, Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2162253120301682; https://doaj.org/toc/2162-2531

URL الوصول: https://doaj.org/article/fef9411ebfc84afcbba7915f60706bd7

المؤلفون: Hwei Wuen Chan, Elena R. Schiff, Vijay K. Tailor, Samantha Malka, Magella M. Neveu, Maria Theodorou, Mariya Moosajee

المصدر: Genes; Volume 12; Issue 4; Pages: 508

مصطلحات موضوعية: albinism, foveal hypoplasia, nystagmus, chiasmal misrouting, oculocutaneous albinism, ocular albinism, Hermansky–Pudlak syndrome

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12040508

الاتاحة: https://doi.org/10.3390/genes12040508

المؤلفون: Elena R. Schiff, Vijay K. Tailor, Hwei Wuen Chan, Maria Theodorou, Andrew R. Webster, Mariya Moosajee

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 3; Pages: 1130

مصطلحات موضوعية: foveal hypoplasia, SLC38A8, nystagmus, chiasmal misrouting, anterior segment dysgenesis

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Genetics and Genomics; https://dx.doi.org/10.3390/ijms22031130

الاتاحة: https://doi.org/10.3390/ijms22031130

المؤلفون: Saleh Daher, Matthew Frampton, Elena R. Schiff, Anthony W. Segal, Eran Israeli, Noam Ben-Yosef, Adam P. Levine, Fadi Abu Baker, Rifaat Safadi

المصدر: Gastroenterology Report

مصطلحات موضوعية: 0303 health sciences, business.industry, Gastroenterology, Original Articles, medicine.disease, Inflammatory bowel disease, Genetic analysis, digestive system diseases, 03 medical and health sciences, 0302 clinical medicine, inflammatory bowel disease, Immunology, medicine, family study, genetics, Multiplex, homozygosity, business, 030217 neurology & neurosurgery, AcademicSubjects/MED00260, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b31dd0734ffe78cd1de2bca9085e3378
https://doi.org/10.1093/gastro/goab007

المؤلفون: Maria Pilar, Martin-Gutierrez, Elena R, Schiff, Genevieve, Wright, Naushin, Waseem, Omar A, Mahroo, Michel, Michaelides, Anthony T, Moore, Andrew R, Webster, Gavin, Arno

المصدر: Investigative ophthalmologyvisual science. 63(9)

مصطلحات موضوعية: Phenotype, Mutation, Retinal Dystrophies, Mutation, Missense, Humans, General Medicine, AC133 Antigen, Alleles, Cone-Rod Dystrophies, Retinitis Pigmentosa, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c12acf34696dd61dd363b2e05293cf38
https://pubmed.ncbi.nlm.nih.gov/35947379

المؤلفون: Michel Michaelides, Genevieve A. Wright, Omar A. Mahroo, Andrew R. Webster, Elena R. Schiff, Gavin Arno, Rola Ba-Abbad, Emma Duignan, Anthony G. Robson

المصدر: Eye. 35:1482-1489

مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Retinal pigment epithelium, genetic structures, medicine.diagnostic_test, business.industry, Dystrophy, Macular dystrophy, Fundus (eye), Compound heterozygosity, eye diseases, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, medicine.anatomical_structure, 030221 ophthalmology & optometry, medicine, sense organs, business, Erg, Macular flecks, 030304 developmental biology, Electroretinography

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::e260bba6ea3158b9c05d311844f89a9f
https://doi.org/10.1038/s41433-020-1045-3

المؤلفون: Joseph Ryu, Stephen H. Tsang, Andrew R. Webster, Eeva-Marja Sankila, Ramiro S. Maldonado, Wadih M. Zein, Lindsey Pyers, Elena R. Schiff, Cristy A. Ku, Jeeyun Ahn, Michael B. Gorin, Mariana Matioli da Palma, Michalis Georgiou, Juliana Maria Ferraz Sallum, Jin Kyun Oh, Paul Yang, Ajoy Vincent, Byron L. Lam, Mark E. Pennesi, Michel Michaelides, Austin D. Igelman

المصدر: Ophthalmic genetics, vol 42, iss 6
Ophthalmic Genet

مصطلحات موضوعية: Male, Pathology, Usher syndrome, Visual Acuity, Cell Cycle Proteins, Retinal Pigment Epithelium, Sensorineural, Neurodegenerative, Eye, Ophthalmology & Optometry, Autoantigens, Multimodal Imaging, chemistry.chemical_compound, 0302 clinical medicine, 2.1 Biological and endogenous factors, Aetiology, Frameshift Mutation, Tomography, Genetics (clinical), Arylsulfatases, Pediatric, 0303 health sciences, Middle Aged, 3. Good health, medicine.anatomical_structure, Phenotype, Codon, Nonsense, Sensorineural hearing loss, Female, medicine.symptom, Usher Syndromes, Tomography, Optical Coherence, ARSG, Adult, medicine.medical_specialty, ABHD12, cep250, Adolescent, Hearing loss, Hearing Loss, Sensorineural, Article, Pallor, 03 medical and health sciences, Young Adult, Rare Diseases, Clinical Research, Opthalmology and Optometry, Retinitis pigmentosa, otorhinolaryngologic diseases, medicine, Genetics, Humans, CEP78, Genetic Testing, Hearing Loss, Codon, Eye Disease and Disorders of Vision, 030304 developmental biology, Retrospective Studies, Aged, Retinal pigment epithelium, business.industry, Neurosciences, Dystrophy, Retinal, medicine.disease, Monoacylglycerol Lipases, Ophthalmology, Orphan Drug, chemistry, Nonsense, Optical Coherence, Atypical usher syndrome, Pediatrics, Perinatology and Child Health, sense organs, business, 030217 neurology & neurosurgery, Cone-Rod Dystrophies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe8960670d9c0f98cf50a87a64f9ffe5
https://escholarship.org/uc/item/0vc5m5k3

المؤلفون: Sapir Liansky, Timothy Stone, Vanessa Ward, Aviya Hoyda, Ash Wilson, Elena R. Schiff, Paul Wolfson, Ho K M A, Aine Hogan, Avi Rosenfeld, Ami Ben Ya'acov, Laurence Lovat, Adam P. Levine, Ariella Bar-Gal Shitrit

المصدر: Posters.

مصطلحات موضوعية: Saliva, Crohn's disease, business.industry, Immunology, medicine, Epigenetics, Biomarker panel, medicine.disease, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3796c21b449794da2433a6d0914a6c58
https://doi.org/10.1136/gutjnl-2021-bsg.142

المؤلفون: Mariya Moosajee, Magella M. Neveu, Elena R. Schiff, Vijay Tailor, Maria Theodorou, Samantha Malka, Hwei Wuen Chan

المصدر: Genes
Volume 12
Issue 4
Genes, Vol 12, Iss 508, p 508 (2021)

مصطلحات موضوعية: 0301 basic medicine, Male, Hermansky–Pudlak syndrome, albinism, 030105 genetics & heredity, Missing heritability problem, Prospective Studies, Child, Genetics (clinical), OCA2, medicine.diagnostic_test, Albinism, Ocular, Oculocutaneous albinism, Hypoplasia, Pedigree, Phenotype, Albinism, Oculocutaneous, Child, Preschool, Albinism, foveal hypoplasia, Female, nystagmus, Ocular albinism, Adult, medicine.medical_specialty, lcsh:QH426-470, Adolescent, Article, Diagnosis, Differential, 03 medical and health sciences, Young Adult, Genetics, medicine, Humans, Genetic Testing, ocular albinism, Genetic testing, Whole Genome Sequencing, business.industry, Infant, medicine.disease, Dermatology, eye diseases, lcsh:Genetics, 030104 developmental biology, Mutation, sense organs, business, oculocutaneous albinism, chiasmal misrouting

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2b03eb9f6086db84a537360a5a274d6
https://pubmed.ncbi.nlm.nih.gov/33808351

المؤلفون: Andrew R. Webster, Vijay Tailor, Maria Theodorou, Hwei Wuen Chan, Mariya Moosajee, Elena R. Schiff

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 1130, p 1130 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 3

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, Fovea Centralis, genetic structures, Visual Acuity, Nystagmus, lcsh:Chemistry, 0302 clinical medicine, Foveal, Medicine, Eye Abnormalities, lcsh:QH301-705.5, Spectroscopy, SLC38A8, Eye Diseases, Hereditary, General Medicine, Hypoplasia, Computer Science Applications, Pedigree, Optic nerve, foveal hypoplasia, Female, medicine.symptom, nystagmus, Ocular albinism, medicine.medical_specialty, Genetic counseling, Context (language use), Catalysis, Article, White People, Inorganic Chemistry, 03 medical and health sciences, Dysgenesis, Protein Domains, Retinal Diseases, Humans, Amino Acid Sequence, Physical and Theoretical Chemistry, Molecular Biology, Alleles, Whole Genome Sequencing, business.industry, Organic Chemistry, medicine.disease, eye diseases, 030104 developmental biology, Amino Acid Transport Systems, Neutral, lcsh:Biology (General), lcsh:QD1-999, Mutation, 030221 ophthalmology & optometry, anterior segment dysgenesis, sense organs, business, chiasmal misrouting

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f1ec114d93576c52336a84eadb73609
https://www.mdpi.com/1422-0067/22/3/1130

المؤلفون: Philippa Harding, Mariya Moosajee, Maria Toms, Suzannah Bell, Elena R. Schiff, Ian Christopher Lloyd, Nicholas Owen

المصدر: International Journal of Molecular Sciences
Volume 22
Issue 4
International Journal of Molecular Sciences, Vol 22, Iss 2190, p 2190 (2021)

مصطلحات موضوعية: 0301 basic medicine, genetic structures, Gene Expression, Microphthalmia, Lenticonus, lcsh:Chemistry, 0302 clinical medicine, Missense mutation, genetics, next-generation sequencing (NGS), lcsh:QH301-705.5, Spectroscopy, Genetics, Human Biology & Physiology, Stem Cells, General Medicine, eye, Computer Science Applications, Microcornea, Fiber cell, cataracts, Congenital cataracts, EPHA2, Genetics & Genomics, Model organisms, congenital, hereditary, and neonatal diseases and abnormalities, whole genome sequencing (WGS), Biology, Catalysis, Article, Inorganic Chemistry, 03 medical and health sciences, Cataracts, medicine, Physical and Theoretical Chemistry, Molecular Biology, development, FOS: Clinical medicine, Organic Chemistry, congenital, Neurosciences, Morphant, medicine.disease, zebrafish, eye diseases, 030104 developmental biology, lcsh:Biology (General), lcsh:QD1-999, microphthalmia, 030221 ophthalmology & optometry, sense organs, Developmental Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86923b99083bb9f023c8fe3da7de24ff

المؤلفون: Samantha Malka, Gavin Arno, Omar A. Mahroo, Nikolas Pontikos, HE Knight, Anthony T. Moore, Andrew R. Webster, Rola Ba-Abbad, Neringa Jurkute, Mariya Moosajee, Michalis Georgiou, Michel Michaelides, Elena R. Schiff, Menachem Katz, Patrick Yu-Wai-Man, Genevieve A. Wright, Monica Armengol, Ainoa Cordoba Gimenez

المساهمون: Yu Wai Man, Patrick [0000-0001-7847-9320], Apollo - University of Cambridge Repository

المصدر: Ophthalmology, vol 127, iss 10

مصطلحات موضوعية: Male, medicine.medical_specialty, DNA Mutational Analysis, Clinical Sciences, Prevalence, ABCA4, Ophthalmology & Optometry, Retina, Retinal Diseases, Clinical Research, Opthalmology and Optometry, Internal medicine, Genetics, Medicine, Humans, Genetic Testing, Eye Proteins, Gene, Eye Disease and Disorders of Vision, Exome sequencing, Retrospective Studies, CRB1, biology, business.industry, Retrospective cohort study, DNA, United Kingdom, Pedigree, Ophthalmology, Cohort, Mutation, biology.protein, Public Health and Health Services, GUCY2D, Female, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15971594fb35828b4df629ac15b69e52
https://escholarship.org/uc/item/0237t9z5

المؤلفون: Elena R. Schiff, Omar A. Mahroo, Derek Burke, Gavin Arno, Rola Ba-Abbad, Karen Pierpoint, Ehsan Ullah, Savita Nutan, Malena Daich Varela, Katie Harvey, Laryssa A. Huryn, Anthony G. Robson, Robert B. Hufnagel, Andrew R. Webster, Wadih M. Zein, Michel Michaelides, Sari Tuupanen

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics

مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Mucopolysaccharidosis, Locus (genetics), Biology, Retina, Article, chemistry.chemical_compound, Mucopolysaccharidosis III, Young Adult, Retinal Diseases, Acetyltransferases, HGSNAT, Retinitis pigmentosa, retinopathy, Genetics, medicine, Leukocytes, Humans, Allele, Child, Gene, Genetics (clinical), Mucopolysaccharidosis Type IIIC, Retinal, Middle Aged, medicine.disease, Pedigree, chemistry, inherited retinal disease, Female, Retinitis Pigmentosa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::173853ede7d3462300a67575382ada3c
https://pubmed.ncbi.nlm.nih.gov/32770643

المؤلفون: Matthew Frampton, Ailsa Hart, Daniel Crespi, Steven Mann, Elena R. Schiff, Anthony W. Segal, Francesca Semplici, Laurence Lovat, Sara McCartney, Adam P. Levine, Eleanor Wood, Stuart Bloom, Roser Vega, Charles Murray, Mark Furman

المصدر: Digestive Diseases and Sciences

مصطلحات موضوعية: Adult, 0301 basic medicine, Proband, medicine.medical_specialty, Epidemiology, Physiology, Population, Disease, Inflammatory bowel disease, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Ashkenazi Jewish, Internal medicine, medicine, Humans, Age of Onset, Family history, Familial risk, education, education.field_of_study, business.industry, Gastroenterology, Inflammatory Bowel Diseases, medicine.disease, United Kingdom, digestive system diseases, 030104 developmental biology, Relative risk, Cohort, Original Article, 030211 gastroenterology & hepatology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::475265a9abbde3ad97d3e345ace9d411
https://doi.org/10.1007/s10620-018-5219-9

المؤلفون: Mathew Frampton, F Semplici, Steven Mann, Daniel Crespi, Nikolas Pontikos, E Wood, Charles Murray, Stuart Bloom, Laurence Lovat, Anthony W. Segal, Eran Israeli, Adam P. Levine, Mark Furman, Elena R. Schiff, Roser Vega, Brandon E Avila, Andrew Hart, N Ben-Yosef, Sara McCartney

المصدر: Human Genetics

مصطلحات موضوعية: Male, 0301 basic medicine, Genetic Linkage, Population, Nod2 Signaling Adaptor Protein, Disease, Biology, Open Reading Frames, 03 medical and health sciences, 0302 clinical medicine, Genetic linkage, NOD2, Genetics, Humans, Genetic Predisposition to Disease, education, Exome, Genetics (clinical), Exome sequencing, Original Investigation, education.field_of_study, Case-control study, Genetic Variation, Sequence Analysis, DNA, Inflammatory Bowel Diseases, Human genetics, Pedigree, 030104 developmental biology, Case-Control Studies, Jews, Female, 030211 gastroenterology & hepatology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6adb4cd0460be3dce25c4079678846ac
https://doi.org/10.1007/s00439-018-1927-7

المؤلفون: Monkol Lek, Inga Peter, Steven R. Brant, Harry Sokol, Jonathan M. Bloom, Konrad J. Karczewski, Ann E. Pulver, Benjamin Glaser, Gil Atzmon, Stefan Schreiber, Chaim Jalas, Christine Stevens, Mark S. Silverberg, Richard H. Duerr, Tariq Ahmad, Carl A. Anderson, Dermot P.B. McGovern, Jeffrey C. Barrett, Jacques Cosnes, Daniel B. Graham, Elena R. Schiff, Eric Vallabh Minikel, Mark J. Daly, Andre Franke, Talin Haritunians, Brandon E Avila, Nir Barzilai, Andrea Ganna, Benjamin M. Neale, Martti Färkkilä, Philippe Seksik, Rinse K. Weersma, Daniel G. MacArthur, Mitja I. Kurki, Ben Weisburd, Aarno Palotie, Hailiang Huang, Kimmo Kontula, Jukka Koskela, Päivi Saavalainen, Stephan R. Targan, Ramnik J. Xavier, Luke Jostins, Graham A. Heap, Dan Turner, Bernd Bokemeyer, Britt-Sabina Petersen, Nikolas Pontikos, John D. Rioux, Laurent Beaugerie, Matti Pirinen, Adam P. Levine, Vincent Plagnol, Judy H. Cho, Anthony W. Segal, Manuel A. Rivas, Johannes Bethge

المساهمون: Institute for Molecular Medicine Finland, Doctoral Programme in Population Health, Department of Mathematics and Statistics, Biostatistics Helsinki, Centre of Excellence in Complex Disease Genetics, Doctoral Programme in Mathematics and Statistics, Research Programs Unit, Immunomics, Immunobiology Research Program, Department of Medical and Clinical Genetics, Medicum, Department of Medicine, Clinicum, Gastroenterologian yksikkö, Aarno Palotie / Principal Investigator, HUS Internal Medicine and Rehabilitation, HUS Abdominal Center, Complex Disease Genetics, Genomics of Neurological and Neuropsychiatric Disorders, Statistical and population genetics, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)

المصدر: PLoS genetics, 14(5):e1007329. PUBLIC LIBRARY SCIENCE
PLoS Genetics
PLoS Genetics, Vol 14, Iss 5, p e1007329 (2018)

مصطلحات موضوعية: 0301 basic medicine, SELECTION, Cancer Research, Heredity, Epidemiology, Population genetics, Crohn's Disease, Genome-wide association study, QH426-470, VARIANTS, Medicine and Health Sciences, MUTATION, Genetics (clinical), Exome sequencing, Genetics, education.field_of_study, ARCHITECTURE, 1184 Genetics, developmental biology, physiology, Genomics, ASSOCIATION, Genetic Mapping, ULCERATIVE-COLITIS, STANDING VARIATION, Research Article, SUSCEPTIBILITY LOCI, Immunology, Population, LEPROSY, Variant Genotypes, Gastroenterology and Hepatology, Biology, Genetic Predisposition, Autoimmune Diseases, 03 medical and health sciences, Genetic variation, Genome-Wide Association Studies, education, Molecular Biology, Allele frequency, Alleles, Ecology, Evolution, Behavior and Systematics, Evolutionary Biology, Population Biology, Inflammatory Bowel Disease, Biology and Life Sciences, Computational Biology, Human Genetics, Genome Analysis, 030104 developmental biology, Genetic epidemiology, Genetic Loci, 3121 General medicine, internal medicine and other clinical medicine, Genetics of Disease, Clinical Immunology, Clinical Medicine, Population Genetics, Founder effect, INFLAMMATORY-BOWEL-DISEASE

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4e8f677116956f9ee23f452558de96d
http://hdl.handle.net/10138/245419

المؤلفون: Todd Lencz, Talin Haritunians, Ling-Shiang Chuang, Xianting Li, Mark S. Silverberg, Seymour Katz, Jianzhong Hu, Nikolas Pontikos, Nai Yun Hsu, Nir Barzilai, Anthony W. Segal, Steven R. Brant, Shai Carmi, Philippe R Labrias, Mark J. Daly, Kyle Gettler, Adam Schaffner, Richard H. Duerr, John D. Rioux, Dermot P.B. McGovern, Haydeh Payami, Jeffery M. Vance, Ernie Chen, Nathan Pankratz, Darren Ruane, Elena R. Schiff, Susan B. Bressman, Judy H. Cho, Robert J. Desnick, Iban Ubarretxena-Belandia, Richard H. Myers, Yakov Peter, Xiuliang Bao, Yiannis A. Ioannou, Dalin Li, Gil Atzmon, William K. Scott, Eric E. Schadt, Lorraine N. Clark, Heriberto Fernandez-Hernandez, Adam P. Levine, Inga Peter, Nicole Villaverde, Adam S. Cheifetz, Itsik Pe'er, Ken Y. Hui, Zhenyu Yue, Tatiana Foroud, Harry Ostrer, Laurie J. Ozelius, Manual Rivas

المصدر: Science Translational Medicine. 10

مصطلحات موضوعية: 0301 basic medicine, Haplotype, Genome-wide association study, General Medicine, Biology, LRRK2, Ashkenazi jews, nervous system diseases, 3. Good health, 03 medical and health sciences, 030104 developmental biology, Immunology, Allele, Kinase activity, Allele frequency, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ef0ce4b8fc7e2ea6a0cc2ef8a324132f
https://doi.org/10.1126/scitranslmed.aai7795

المؤلفون: Bruce E. Sands, Peter Legnani, Steven R. Brant, Maria T. Abreu, Robert J. Desnick, Manuel A. Rivas, Todd Lencz, Seth Lipka, Wei Zhang, Clara Abraham, Inga Peter, Beatrice M. Bowen, James F. George, Anthony W. Segal, Jody-Ann Facey, Jacob L. McCauley, Nicole Villaverde, Arthur Mortha, Joanne M. Stempak, Dalin Li, Ellen Scherl, Lisa W. Datta, Ken Y. Hui, Sok Meng Evelyn Ng, Yashoda Sharma, L Phillip Schumm, Mark J. Daly, Romain Remark, Talin Haritunians, Elena R. Schiff, Vincent Plagnol, Sacha Gnjatic, Alexander Gusev, Heriberto Fernandez-Hernandez, Judy H. Cho, Hakon Hakonarson, Ariel Darvasi, Itsik Pe'er, Stephan R. Targan, Alexio M. Muise, Nai Yun Hsu, Adam S. Cheifetz, Gil Atzmon, Mark S. Silverberg, Ling-Shiang Chuang, Dermot P.B. McGovern, Richard H. Duerr, Nir Barzilai, Jerome I. Rotter, Kaida Ning, Miriam Merad, Kent D. Taylor, Seymour Katz, Marla J. Dubinsky, Tramy Luong, Adam P. Levine, Nikolas Pontikos, Subramaniam Kugathasan, Hongyu Zhao, Adeeb Rahman

المصدر: Gastroenterology, vol 151, iss 4
Chuang, LS; Villaverde, N; Hui, KY; Mortha, A; Rahman, A; Levine, AP; et al.(2016). A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF. Gastroenterology, 151(4), 710-723.e2. doi: 10.1053/j.gastro.2016.06.045. UCLA: Retrieved from: http://www.escholarship.org/uc/item/7s0072ck

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.disease_cause, Monocytes, Ethnic Variation, Immune tolerance, Cytokine Receptor Common beta Subunit, 0302 clinical medicine, Crohn Disease, Risk Factors, Granulocyte Colony-Stimulating Factor, Homeostasis, Frameshift Mutation, Mutation, biology, Gastroenterology, Ashkenazi jews, Intestines, Granulocyte macrophage colony-stimulating factor, medicine.anatomical_structure, 030211 gastroenterology & hepatology, Female, medicine.drug, Signal Transduction, Adenomatous polyposis coli, IBD, Clinical Sciences, Article, Frameshift mutation, Paediatrics and Reproductive Medicine, 03 medical and health sciences, medicine, Humans, Lamina propria, Hepatology, Gastroenterology & Hepatology, Macrophage Colony-Stimulating Factor, Monocyte, Risk Factor, Inflammatory Bowel Disease, Neurosciences, Genetic Variation, Granulocyte-Macrophage Colony-Stimulating Factor, digestive system diseases, 030104 developmental biology, Case-Control Studies, Jews, Immunology, biology.protein, Granulocytes

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be36a9d4395c549af22f254495b5dec3
https://escholarship.org/uc/item/7s0072ck