المؤلفون: Kinga M Bujakowska, Joseph White, Emily Place, Mark Consugar, Jason Comander

المصدر: PLoS ONE, Vol 10, Iss 11, p e0142614 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/969aef5f7ad543f38fc6562db8f455f3

المؤلفون: Hakon Hakonarson, Valentina Emmanuele, Mark Consugar, Xiaowu Gai, Martí Juanola-Falgarona, Marni J. Falk, Eric A. Pierce, Michio Hirano, Kurenai Tanji, Elizabeth M. McCormick, Emily Place, Saba Tadesse, Chaim Jalas, Dong Li, Marcello Ziosi, Hasan O. Akman, Rebecca D. Ganetzky, Yoel Hirsch, Emanuele Barca, Prasanth Potluri, Wendy K. Chung, Douglas C. Wallace

المصدر: Human Molecular Genetics. 27:3305-3312

مصطلحات موضوعية: Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Mitochondrial Diseases, Protein subunit, Population, Mitochondrion, Oxidative Phosphorylation, 03 medical and health sciences, Exon, Adenosine Triphosphate, Gene Frequency, Exome Sequencing, Genetics, medicine, Humans, Leigh disease, Child, education, Molecular Biology, Genetics (clinical), education.field_of_study, Splice site mutation, ATP synthase, biology, Infant, Newborn, Infant, Exons, General Medicine, Mitochondrial Proton-Translocating ATPases, medicine.disease, Molecular biology, Founder Effect, Ashkenazi jews, Mitochondria, 030104 developmental biology, Haplotypes, Child, Preschool, Jews, Mutation, biology.protein, General Article, RNA Splice Sites, Leigh Disease, Dimerization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6059063169e41ebe95c2b7520e3b796
https://doi.org/10.1093/hmg/ddy231

المؤلفون: Cindy Ung, Heather Hancock, Leo A. Kim, Angie V. Sanchez, Suzanne Hoadley, Lucia Sobrin, Mark Consugar, Tina Ahmadi, Vinay A Shah, Daniel Navarro-Gomez, Samaneh Davoudi, Xiaowu Gai, Ching J. Chen, Joseph F. Arboleda-Velasquez, Alan D. Penman, Lishuang Shen, Carlos Restrepo

المصدر: Vision Research. 139:168-176

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Diabetic Retinopathy, business.industry, Type 2 diabetes, Diabetic retinopathy, Retinal Neovascularization, medicine.disease, Null allele, Phenotype, Article, Sensory Systems, VPS13B, 03 medical and health sciences, Ophthalmology, 030104 developmental biology, Exome Sequencing, Immunology, medicine, Humans, Genetic Predisposition to Disease, business, Gene, Genetic Association Studies, Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0d27c9c1aa3a27bf351a8cb3d54ab26
https://doi.org/10.1016/j.visres.2017.03.007

المؤلفون: Xiaowu Gai, Joseph A. White, Hongbo Xie, Emily Place, Emma Bedoukian, Rosario Fernandez-Godino, Eric A. Pierce, Daniel Navarro-Gomez, Kinga M. Bujakowska, Bart P. Leroy, Mark Consugar, Xiaosong Zhu

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, DNA Copy Number Variations, Non-allelic homologous recombination, Biology, Compound heterozygosity, Polymorphism, Single Nucleotide, Genome, Article, Inherited retinal degenerations, Cohort Studies, 03 medical and health sciences, symbols.namesake, retinitis pigmentosa, parasitic diseases, Retinitis pigmentosa, medicine, Humans, Genetic Predisposition to Disease, Copy-number variation, Child, cone dystrophy, Gene, Genetics (clinical), Family Health, Jalili syndrome, blue cone monochromacy, Sanger sequencing, Genetics, Comparative Genomic Hybridization, Retinal Degeneration, copy number variation, Chromosome Mapping, Middle Aged, medicine.disease, 030104 developmental biology, symbols, Female, rod-cone dystrophy, Gene Deletion, Comparative genomic hybridization

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0358526bb1c75b1e2d2affb11297c1c
https://doi.org/10.1038/gim.2016.158

المؤلفون: Daniel G. Taub, Maria E. Sousa, Elizabeth D. Au, Dan Yi Wang, David A. Sweetser, Mark Consugar, Eric A. Pierce, Daniel Navarro-Gomez, Janey L. Wiggs, Zoe Fonseca-Kelly, Anne B. Fulton, Xiaowu Gai, Emily Place, Maria Janessian, Katherine B. Sims, Qin Liu, Kinga M. Bujakowska

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: Eye Diseases, Genotype, specificity, Biology, Polymorphism, Single Nucleotide, Sensitivity and Specificity, Article, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Exome capture, medicine, Humans, Genetic diagnostic testing, Exome, Genetic Testing, Prospective Studies, reproducibility, Genetics (clinical), Exome sequencing, 030304 developmental biology, Genetic testing, Genetics, 0303 health sciences, medicine.diagnostic_test, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Diagnostic test, sensitivity, 3. Good health, 030221 ophthalmology & optometry, Eye disorder, next-generation sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d70d7d29aab9c3ca76d3785d5077074
https://doi.org/10.1038/gim.2014.172

المؤلفون: Qi Zhang, Bart P. Leroy, Mark Consugar, Christina Zeitz, Emily Place, Eric A. Pierce, Marni J. Falk, Marie-Elise Lancelot, Christine Lonjou, L. Ingeborgh van den Born, Xiaowu Gai, José-Alain Sahel, Anneke I. den Hollander, Saddek Mohand-Said, Frans P.M. Cremers, Isabelle Audo, Rob W.J. Collin, Wassila Carpentier, Kinga M. Bujakowska, Qin Liu, Aline Antonio, Anna M. Siemiatkowska

المساهمون: Institut de la Vision, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Department of Physics, Shanghai University, Shanghai University, Key Laboratory of Stem Cell Biology, Chinese Academy of Sciences [Changchun Branch] (CAS)-Shanghai Jiao Tong University School of Medicine, Plateforme Post-génomique de la Pitié-Salpêtrière (P3S), UMS omique (OMIQUE), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Pierre et Marie Curie - Paris 6 (UPMC), National Eye Institute [EY012910], Foundation Fighting Blindness (FFB), French state funds managed by the Agence Nationale de la Recherche within the Investissements d'Avenir program [ANR-11-IDEX-0004-0], Netherlands Organisation for Scientific Research [91209047], Stichting Wetenschappelijk Onderzoek Oogziekenhuis Prof Dr H.J. Flieringa Foundation, Research to Prevent Blindness, Fleming Family Foundation, FFB [CD-CL-0808-0466-CHNO], FFB center [C-CMM-0907-0428-INSERM04], Foundation Voir et Entendre, Fondation Dalloz prix `pour la recherche en ophtalmologie', Ville de Paris and Region Ile de France, Labex LIFESENSES [ANR-10-LABX-65]

المصدر: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2015, 24 (1), pp.230-242. ⟨10.1093/hmg/ddu441⟩
Human Molecular Genetics, 24, 1, pp. 230-42
Human Molecular Genetics, 2015, 24 (1), pp.230-242. ⟨10.1093/hmg/ddu441⟩
Human Molecular Genetics, 24, 230-42

مصطلحات موضوعية: Retinal degeneration, Adult, Male, Adolescent, Biology, Ciliopathies, Joubert syndrome, Retina, Young Adult, Bardet–Biedl syndrome, Intraflagellar transport, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Genetics, medicine, Animals, Humans, Exome, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Molecular Biology, Bardet-Biedl Syndrome, Genetics (clinical), Cells, Cultured, Zebrafish, Adaptor Proteins, Signal Transducing, Cilium, High-Throughput Nucleotide Sequencing, General Medicine, Articles, Sequence Analysis, DNA, medicine.disease, 3. Good health, Pedigree, Rats, Ciliopathy, Cytoskeletal Proteins, Mutation, Female, sense organs, Carrier Proteins, Retinitis Pigmentosa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::723ee8f9a404fdb5b0d5fab9e46ccdf9
https://doi.org/10.1093/hmg/ddu441

المؤلفون: Joseph A. White, Daniel G. Taub, Mark Consugar, Xiaowu Gai, Carol Weigel DiFranco, Eliot L. Berson, Eric A. Pierce, Daniel Navarro-Gomez, Shyana Harper, Jaclyn Lena, Kinga M. Bujakowska, Michael H. Farkas, Emily Place

المصدر: Investigative Ophthalmology & Visual Science. 55:8488-8496

مصطلحات موضوعية: Adult, Proband, congenital, hereditary, and neonatal diseases and abnormalities, Hearing loss, Usher syndrome, DNA Mutational Analysis, Myosins, Biology, Bioinformatics, Congenital hearing loss, DNA sequencing, Cohort Studies, Cellular and Molecular Neuroscience, Exon, Retinitis pigmentosa, otorhinolaryngologic diseases, medicine, Humans, Exome sequencing, Genetics, Gene Expression Profiling, Genetic Variation, Articles, Exons, Sequence Analysis, DNA, medicine.disease, Sensory Systems, Pedigree, Ophthalmology, Mutation, medicine.symptom, Usher Syndromes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f4d4f9b9d3e7c277ce560fa136f0831
https://doi.org/10.1167/iovs.14-15169

المؤلفون: Mark Consugar, Leonardo Arbiza, Kristin Butcher, Siyuan Chen, Hutson Chilton, Richard Gantt, Yehudit Hasin-Brumshtein, Jim Laugharn, Jayne Simon, Ulrich Thomann, Christina Thompson, Ramsey Zeitoun

المصدر: Cancer Research. 79:3544-3544

مصطلحات موضوعية: Cancer Research, Oncology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ecd97f85dd6666596e970d6b9c2de0f9
https://doi.org/10.1158/1538-7445.am2019-3544

المؤلفون: Emily Place, Elizabeth M. McCormick, Ya-Ming Hou, Mark Consugar, Ryuichi Takase, Thomas Christian, Xiaowu Gai, Megumi Shigematsu, Eric A. Pierce, Walter Rossmanith, Marni J. Falk, Elisa Vilardo, Howard Gamper

مصطلحات موضوعية: 0301 basic medicine, Male, Drug Resistant Epilepsy, RNase P, Developmental Disabilities, Biology, Reductase, medicine.disease_cause, Brief Communication, Human mitochondrial genetics, Ribonuclease P, HSD17B10, 03 medical and health sciences, 0302 clinical medicine, RNA, Transfer, Genes, X-Linked, medicine, Humans, Exome, Global developmental delay, Child, Molecular Biology, Gene, Genetics, Mutation, 3-Hydroxyacyl CoA Dehydrogenases, Cell Biology, Methylation, Sequence Analysis, DNA, Molecular biology, Mitochondria, 030104 developmental biology, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e4c744be07ff836a907b6d9b19f3c77
https://europepmc.org/articles/PMC4962811/

المؤلفون: Jason Comander, Joseph A. White, Emily Place, Mark Consugar, Kinga M. Bujakowska

المصدر: PLoS ONE, Vol 10, Iss 11, p e0142614 (2015)
PLoS ONE

مصطلحات موضوعية: Male, Heterozygote, In silico, Science, Molecular Sequence Data, Alu element, Sequence alignment, Biology, Protein Serine-Threonine Kinases, DNA sequencing, Cohort Studies, Alu Elements, Retinitis pigmentosa, medicine, Animals, Humans, Insertion, Amino Acid Sequence, Alleles, Sequence (medicine), Genetics, Multidisciplinary, Base Sequence, Homozygote, High-Throughput Nucleotide Sequencing, Exons, Sequence Analysis, DNA, medicine.disease, Pedigree, Mutagenesis, Insertional, Genetic Loci, Mutation (genetic algorithm), Medicine, Sequence Alignment, Retinitis Pigmentosa, Research Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::543e0415d093c1f87e27af97d05fde89
https://doaj.org/article/969aef5f7ad543f38fc6562db8f455f3

المؤلفون: Marni J. Falk, Xiaowu Gai, Megumi Shigematsu, Elisa Vilardo, Ryuichi Takase, Elizabeth McCormick, Thomas Christian, Emily Place, Eric A. Pierce, Mark Consugar, Howard B. Gamper, Walter Rossmanith, Ya-Ming Hou

مصطلحات الفهرس: Biochemistry, Medicine, Microbiology, Cell Biology, Genetics, Neuroscience, 69999 Biological Sciences not elsewhere classified, Cancer, Collection

المؤلفون: Michael T. Collins, Caroline Chebli, Janet Jones, Harvey Kushner, Mark Consugar, Piero Rinaldo, Shlomo Wientroub, P. Gehron Robey, BIANCO, Paolo

المساهمون: Michael T., Collin, Caroline, Chebli, Janet, Jone, Harvey, Kushner, Mark, Consugar, Piero, Rinaldo, Shlomo, Wientroub, Bianco, Paolo, P., Gehron Robey

مصطلحات موضوعية: fibrous dysplasia, mccune-albright syndrome, phosphaturia, phosphotonin, tumor-induced osteomalacia

Relation: info:eu-repo/semantics/altIdentifier/pmid/11341325; info:eu-repo/semantics/altIdentifier/wos/WOS:000168201500002; volume:16; issue:5; firstpage:806; lastpage:813; numberofpages:8; journal:JOURNAL OF BONE AND MINERAL RESEARCH; http://hdl.handle.net/11573/80715; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0035058573; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000168201500002&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a; http://www.scopus.com/inward/record.url?eid=2-s2.0-0035058573&partnerID=65&md5=9c35b41986da27f69de5c0be9b5e5e07

الاتاحة: http://hdl.handle.net/11573/80715
https://doi.org/10.1359/jbmr.2001.16.5.806
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000168201500002&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a
http://www.scopus.com/inward/record.url?eid=2-s2.0-0035058573&partnerID=65&md5=9c35b41986da27f69de5c0be9b5e5e07

المؤلفون: Eric A. Pierce, Maria E. Sousa, Michael H. Farkas, Mark Consugar, Joseph A. White, Gregory R. Grant

المصدر: BMC Genomics
BMC Genomics; Vol 14

مصطلحات موضوعية: Adult, Male, RNA-Seq, Biology, Retina, Transcriptome, 03 medical and health sciences, Exon, 0302 clinical medicine, RNA Isoforms, Genetics, Humans, Genetic Association Studies, 030304 developmental biology, 0303 health sciences, Novel genes, Gene Expression Profiling, Alternative splicing, Computational Biology, High-Throughput Nucleotide Sequencing, Reproducibility of Results, Molecular Sequence Annotation, Inherited retinal degeneration, Middle Aged, Exon skipping, Neoplasm Proteins, DNA-Binding Proteins, Alternative Splicing, Gene Expression Regulation, Organ Specificity, RNA splicing, Female, DNA microarray, 030217 neurology & neurosurgery, Research Article, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a4a44baa89dd5711638f083e645dfc6
https://doi.org/10.1186/1471-2164-14-486

المؤلفون: Jennifer A. Jackson, David Chappell, Damien Slater, Mark Consugar, Michael L. Samuels, Christina Read

المصدر: Cancer Research. 76:3647-3647

مصطلحات موضوعية: Cancer Research, Cancer, Biology, medicine.disease, Somatic evolution in cancer, Molecular biology, T790M, Circulating tumor cell, Oncology, ROS1, medicine, Cancer research, Multiplex, Digital polymerase chain reaction, Lung cancer

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2af4c98bf3423033c1d9a6cdf3248d98
https://doi.org/10.1158/1538-7445.am2016-3647

المؤلفون: Mei Hui Tan, Kimberly T. Helzer, Lori Emrick, Mark Consugar, Yi Fang Lee, Ali Asgar S. Bhagat

المصدر: Cancer Research. 76:3953-3953

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Cancer, Computational biology, Biology, medicine.disease, Bioinformatics, DNA sequencing, 03 medical and health sciences, genomic DNA, 030104 developmental biology, Circulating tumor cell, Oncology, DNA profiling, CDKN2A, medicine, Digital polymerase chain reaction, Liquid biopsy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8ed7e2c5c1bb1077ea0cf827e6bf2d32
https://doi.org/10.1158/1538-7445.am2016-3953

المؤلفون: Zoe Fonseca-Kelly, Shomi S. Bhattacharya, Rachna Shukla, Juan C. Perin, Anthony T. Moore, Qin Liu, Marni J. Falk, Lakshmi Palavalli, Christina Zeitz, Christina Chakarova, José-Alain Sahel, Qi Zhang, Isabelle Audo, Subhadra Jalali, Saddek Mohand-Said, Magdalena Staniszewska, Emily Place, Xiaowu Gai, Naushin Waseem, Chitra Kannabiran, Eliot L. Berson, Andrew R. Webster, Arundhati Dev Borman, Donna S. Mackay, Eiko Nakamaru-Ogiso, Julian Ostrovsky, Eric A. Pierce, Rui Xiao, Mark Consugar

المساهمون: National Institutes of Health (US), Foundation Fighting Blindness, Penn Genome Frontiers Institute (US), Loyola University Chicago, Children’s Hospital of Philadelphia, Angelina Foundation, Fundaçâo Champalimaud, Ministry of Science and Technology (India), Hyderabad Eye Research Foundation, Council for Scientific and Industrial Research (India), Fondation Voir et Entendre, Fight for Sight (UK), Moorfields Eye Hospital (UK), Research Councils UK, Pennsylvania Department of Health

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature genetics

مصطلحات موضوعية: Retinal degeneration, Male, genetic structures, DNA Mutational Analysis, Leber Congenital Amaurosis, Locus (genetics), Biology, Article, 03 medical and health sciences, 0302 clinical medicine, NMNAT1, Retinitis pigmentosa, Genetics, medicine, Missense mutation, Humans, Family, Genetic Predisposition to Disease, Nicotinamide-Nucleotide Adenylyltransferase, Child, Exome sequencing, 030304 developmental biology, 0303 health sciences, Nicotinamide-nucleotide adenylyltransferase, Base Sequence, Retinal Degeneration, medicine.disease, eye diseases, 3. Good health, Pedigree, Case-Control Studies, Child, Preschool, Mutation, 030221 ophthalmology & optometry, Female, NAD+ kinase, sense organs

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3437c091a6d94faccbbe4b2bdc16a754
http://hdl.handle.net/10261/122695

المؤلفون: Holger Prokisch, Thomas Wieland, Lee-Jun C. Wong, Emtethal Al-Jishi, Fowzan S. Alkuraya, Daniele Ghezzi, Xiaowu Gai, Claire A. Sheldon, Richard J. Rodenburg, Caroline Biagosch, Hanah Shamseldin, Tim M. Strom, Mark A. Johnson, Aurelio Reyes, Erzsebet Polyak, Satish Srinivasan, Sara Vidoni, Julian Ostrovsky, Costanza Lamperti, Marni J. Falk, Tobias B. Haack, Matteo Gorza, Peter Freisinger, Massimo Zeviani, Neal Sondheimer, Mustafa A. Salih, Jan A.M. Smeitink, Eric A. Pierce, Francesca Furlan, Emily Place, Mark Consugar, Mai Tsukikawa

المصدر: Mitochondrion. 13:939-940

مصطلحات موضوعية: FBXL4, Genetics, Pathology, medicine.medical_specialty, business.industry, Leukodystrophy, Respiratory chain, Cell Biology, Mitochondrion, medicine.disease, Multisystem disease, medicine, Molecular Medicine, business, Molecular Biology, Cortical atrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1951c4caade03c2c218650408f7dfb15
https://doi.org/10.1016/j.mito.2013.07.104

المؤلفون: Polycystic Kidney Disease, Peter C. Harris, Kyongtae T. Bae, Ro Rossetti, Vicente E. Torres, Jared J. Grantham, Arlene B. Chapman, Lisa M. Guay-woodford, Bernard F. King, Louis H. Wetzel, Deborah A. Baumgarten, Philip J. Kenney, Mark Consugar, Saulo Klahr, William M. Bennett, Catherine M. Meyers, Qin (jean Zhang, Paul A. Thompson, Fang Zhu, J. Philip Miller, The Crisp Consortium

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://jasn.asnjournals.org/content/17/11/3013.full.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.328.6864; http://jasn.asnjournals.org/content/17/11/3013.full.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.328.6864
http://jasn.asnjournals.org/content/17/11/3013.full.pdf

المؤلفون: Peter C Harris, Denise Walker, Mark Consugar, Jeff Slezak, Sandro Rossetti, Vicente E Torres, Christopher G Winearls

المصدر: American Journal of Kidney Diseases. 41:1125

مصطلحات موضوعية: Nephrology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8727e1d16ce0783fd86ea13fd5700590
https://doi.org/10.1016/s0272-6386(03)00293-2