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المؤلفون: Wendy Roberts, Stephen W. Scherer, Dalila Pinto, James S. Sutcliffe, Christian R. Marshall, Peter Szatmari, Rainald Moessner, John B. Vincent, Bridget A. Fernandez, Jennifer Skaug, Lonnie Zwaigenbaum
المصدر: The American Journal of Human Genetics. 81(6):1289-1297
مصطلحات موضوعية: Male, Chromosomes, Human, Pair 22, Chromosomes, Human, Pair 20, 22q13 deletion syndrome, Epigenetics of autism, Nerve Tissue Proteins, Biology, medicine.disease_cause, behavioral disciplines and activities, Translocation, Genetic, 03 medical and health sciences, 0302 clinical medicine, Report, mental disorders, medicine, Genetics, Humans, Heritability of autism, Genetics(clinical), Autistic Disorder, Genetics (clinical), 030304 developmental biology, Sequence Deletion, Chromosomes, Human, Pair 14, 0303 health sciences, Mutation, Chromosome Mapping, Genetic Variation, DNA, medicine.disease, Pedigree, Developmental disorder, Autism spectrum disorder, Autism, Female, Haploinsufficiency, Carrier Proteins, 030217 neurology & neurosurgery
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المؤلفون: Jennifer Skaug, Ingrid Tein, Stephen W. Scherer, Anne-Marie Lamhonwah
المصدر: Biochemical and Biophysical Research Communications. 301:98-101
مصطلحات موضوعية: Organic Cation Transport Proteins, Recombinant Fusion Proteins, Biophysics, Locus (genetics), Biochemistry, DNA sequencing, Mice, Crohn Disease, Carnitine, Peroxisomes, Tumor Cells, Cultured, medicine, Animals, Humans, Molecular Biology, Gene, Cells, Cultured, Genetics, Organic cation transport proteins, biology, Chromosome, Biological Transport, Transporter, Cell Biology, Fibroblasts, Peroxisome, Molecular biology, Mice, Inbred C57BL, biology.protein, Chromosomes, Human, Pair 5, medicine.drug
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المؤلفون: Stephen W. Scherer, Rebecca S. Devon, Robert H. Brown, Guy A. Rouleau, Collette K. Hand, Jamal Nasir, Jennifer Skaug, Roshni R. Singaraja, Thomas J. Kwiatkowski, Michael R. Hayden, Tally Lerman Sagie, Natsuki Miyamoto, Yoshinori Okada, Junko Showguchi-Miyata, Hitoshi Osuga, Betsy A. Hosler, Joh-E Ikeda, Shinji Hadano, Asako Otomo, Yoshiko Yanagisawa, Denise A. Figlewicz
المصدر: Nature Genetics. 29:166-173
مصطلحات موضوعية: Genetics, Exon, Juvenile amyotrophic lateral sclerosis, medicine, Juvenile primary lateral sclerosis, Biology, Amyotrophic lateral sclerosis, medicine.disease, Gene, Homology (biology), Stop codon, Regulator gene
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المؤلفون: Xiao-Yan Wen, A. Keith Stewart, Lap-Chee Tsui, Jennifer Skaug, Ellen Wei
المصدر: Mammalian Genome. 12:129-132
مصطلحات موضوعية: Expressed Sequence Tags, Genetics, Radiation Hybrid Mapping, Expressed sequence tag, Base Sequence, Molecular Sequence Data, Locus (genetics), Sequence alignment, Lipase, Phosphatidylserines, Sequence Analysis, DNA, Biology, Molecular biology, Phospholipases A, Phospholipases A1, Conserved sequence, Mice, Chromosome 16, Phospholipase A1, Consensus sequence, Animals, Amino Acid Sequence, Sequence Alignment, Gene
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المؤلفون: Paul Melançon, Jennifer Skaug, Stephen W. Scherer, Jennifer Giordano, Sam J. Mansour, Xinhua Zhao
المصدر: Proceedings of the National Academy of Sciences. 96:7968-7973
مصطلحات موضوعية: Male, ADP ribosylation factor, Cell Survival, Molecular Sequence Data, Golgi Apparatus, Guanosine, Saccharomyces cerevisiae, Biology, Transfection, Polymerase Chain Reaction, Cell Line, Fungal Proteins, chemistry.chemical_compound, symbols.namesake, Cricetinae, Testis, Animals, Guanine Nucleotide Exchange Factors, Humans, Amino Acid Sequence, Cellular localization, DNA Primers, Fungal protein, Brefeldin A, Multidisciplinary, Base Sequence, Sequence Homology, Amino Acid, Proteins, Biological Sciences, Golgi apparatus, Recombinant Proteins, Cell biology, chemistry, Biochemistry, symbols, Guanine nucleotide exchange factor, Uncompetitive inhibitor, Sequence Alignment
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80748c0565ee9521e92853e52e212f6e
https://doi.org/10.1073/pnas.96.14.7968 -
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المؤلفون: Anath C. Lionel, Clare A. Gibbons, Jan M. Friedman, David Chitayat, Leon Sloman, Rebecca Baatjes, Andreas Fiebig, Lars Feuk, Christian R. Marshall, John B. Vincent, Mary Shago, Rob Nicolson, Rosanna Weksberg, Lonnie Zwaigenbaum, Sandra Luscombe, Peter Szatmari, Yvonne J. Vos, Can Ficicioglu, Anne Summers, Stephen W. Scherer, Bhooma Thiruvahindrapduram, Ahmad S. Teebi, Abdul Noor, Ann Thompson, Yan Ren, Stefan Schreiber, Bridget A. Fernandez, Rainald Moessner, Dalila Pinto, Susan J. Kirkpatrick, Vicki Crosbie, Jennifer Skaug, Cathy Vardy, Cees E.J. Ketelaars, Wendy Roberts
المساهمون: Faculteit Medische Wetenschappen/UMCG
المصدر: American Journal of Human Genetics, 82(2), 477-488. CELL PRESS
مصطلحات موضوعية: CNTNAP2, MICRODELETION SYNDROME, NUCLEOTIDE, Genetics, Medical, Population, Gene Dosage, Epigenetics of autism, Biology, Polymorphism, Single Nucleotide, Article, Structural variation, mental disorders, Genetics, Humans, Heritability of autism, Genetics(clinical), Copy-number variation, Autistic Disorder, education, Genetics (clinical), POPULATION, COPY NUMBER VARIATION, Chromosome Aberrations, Gene Rearrangement, education.field_of_study, HIGH-FREQUENCY, GENETIC DISORDER, MUTATIONS, REARRANGEMENTS, Gene rearrangement, Microdeletion syndrome, Microarray Analysis, ARRAYS, GENOME, Phenotype, Karyotyping
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المؤلفون: Katariina Hannula-Jouppi, John B. Vincent, Wendy Roberts, Batsheva Kerem, Aino Kalervo, Danielle Hartung, Stephen W. Scherer, Janis Oram Cardy, Marita Lipsanen-Nyman, Micheil Innes, Małgorzata J.M. Nowaczyk, Juha Kere, Joseph Rivlin, Anne Summers, Lili Senman, Brenda Finucane, Lars Feuk, Jennifer Skaug, Peter Szatmari, Lucy R. Osborne, Kazuhiko Nakabayashi, Virginia Wong, Susan Zeesman
المصدر: University of Helsinki
مصطلحات موضوعية: Male, Apraxias, Molecular Sequence Data, Gene Expression, Chromosomal translocation, Forkhead Transcription Factors - genetics, Biology, Polymerase Chain Reaction, Translocation, Genetic, Cell Line, Craniofacial Abnormalities, Genomic Imprinting, 03 medical and health sciences, Chromosomes, Human, Pair 7 - genetics, 0302 clinical medicine, Report, Genetics, medicine, Humans, Fetal Growth Retardation - genetics, Genetics(clinical), Apraxias - genetics, Autistic Disorder, Developmental verbal dyspraxia, Growth Disorders, Genetics (clinical), 030304 developmental biology, Chromosome 7 (human), 0303 health sciences, Fetal Growth Retardation, FOXP2 Gene, Forkhead Transcription Factors, FOXP2, Syndrome, Uniparental Disomy, medicine.disease, Uniparental disomy, Autism spectrum disorder, Female, Genomic imprinting, Chromosomes, Human, Pair 7, Gene Deletion, 030217 neurology & neurosurgery
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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1bb9dc8ecc33de2ee0f3138928b42267
http://hdl.handle.net/10722/45215 -
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المؤلفون: Ben F. Koop, Xiao-Yan Wen, Yahong Bai, Ding Yan Wang, T. Kue Young, Lihua Zhuang, Joseph Y. Cheung, Robert A. Hegele, Michael D. Wilson, Philip W. Connelly, Lap-Chee Tsui, Maryam Yahyapour, Jian Wang, A. Keith Stewart, Jennifer Skaug
المصدر: Human molecular genetics. 12(10)
مصطلحات موضوعية: Male, Mutant, Molecular Sequence Data, Single-nucleotide polymorphism, Locus (genetics), Hyperlipidemias, Biology, Exon, Mice, Complementary DNA, Testis, Genetics, Animals, Humans, Amino Acid Sequence, Lipase, Molecular Biology, Gene, Genetics (clinical), Phylogeny, Hypertriglyceridemia, Intron, General Medicine, Molecular biology, Liver, biology.protein
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::470b0d6673b8c5ec617aa31ba903a7e7
https://pubmed.ncbi.nlm.nih.gov/12719377 -
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المؤلفون: Jennifer Skaug, Karen W. Gripp, Luis Armengol, Sanaa Choufani, Lisa G. Shaffer, Ikuko Teshima, Dorota Kwasnicka, Elena Belloni, Peter M. Kroisel, Qing Zhang, Miguel Angel Pujana, David Chitayat, Hartmut Döhner, Sarah J. Mould, David G. Oscier, Andrew P. Boright, Steven R. Herrick, Peter Szatmari, Simone Gentles, May Haddad, Lucy R. Osborne, Azra H. Ligon, J. Craig Venter, Karl Heinz Grzeschik, James F. Gusella, Emiko Kanematsu, Junjun Zhang, Jeffrey R. MacDonald, Eitan Zlotorynski, Zhongwu Lai, Anne W. Higgins, Zhiping Gu, Theresa A. Grebe, Johanna M. Rommens, Barbara R. Pober, Stephen W. Scherer, Constantine C. Christopoulos, Pier Giuseppe Pelicci, Cynthia C. Morton, Anne M. Summers, Razi Khaja, Michael D. Wilson, Berge A. Minassian, Chantal Farra, Hyung Goo Kim, Ahmed Teebi, Elizabeth J.T. Winsor, Gudrun E. Moore, Nazneen Rahman, Heather L. Ferguson, John B. Vincent, Kazuhiko Nakabayashi, Henry H.Q. Heng, Batsheva Kerem, Wendy Roberts, Xiangqun H. Zheng, Jan M. Friedman, Martin Li, Francesco Lo-Coco, Susan Zeesman, Juha Kere, Richard J. Mural, Małgorzata J.M. Nowaczyk, Ben F. Koop, Jo Anne Herbrick, Bradley J. Quade, Alexander K. Hudek, Bridget A. Fernandez, Lap-Chee Tsui, Fu Lu, Peter W. Li, Gavin E. Duggan, Joseph Y. Cheung, Gail A. P. Bruns, Susan J. Kirkpatrick, Konstanze Döhner, Bruce R. Korf, Elaine H. Zackai, Xavier Estivill, Silvano Tosi, Rosanna Weksberg, Erwin Petek, Natalia T. Leach, Deborah R. Nusskern, Sarah R. Cox, Emmanuelle Lemyre, Andrew R. Carson, Cheryl Shuman, Mark Raymond Adams, Layla Parker-Katiraee
مصطلحات موضوعية: Williams Syndrome, Euchromatin, Congenital, Mice, Complementary, Gene Duplication, Neoplasms, Databases, Genetic, Genes, Overlapping, In Situ Hybridization, Fluorescence, In Situ Hybridization, Segmental duplication, Overlapping, Genetics, Chromosome 7 (human), Expressed Sequence Tags, Multidisciplinary, Chromosome Fragile Sites, Chromosome Mapping, Limb Deformities, Genetic Diseases, Animals, Autistic Disorder, Chromosome Aberrations, Chromosome Fragility, Chromosomes, Human, Pair 7, Computational Biology, Congenital Abnormalities, CpG Islands, DNA, Complementary, Genetic Diseases, Inborn, Genomic Imprinting, Humans, Limb Deformities, Congenital, Molecular Sequence Data, Mutation, Pseudogenes, RNA, Retroelements, Sequence Analysis, DNA, Pair 7, Sequence Analysis, Human, Sequence analysis, Genetic diseases, inborn - genetics, Chromosomal rearrangement, Biology, Article, Chromosomes, Fluorescence, Databases, Genetic, Chromosome 19, DNA, Inborn, Genes, Human genome, Chromosome 21, Chromosomes, human, pair 7 - genetics, Chromosome 22, Settore MED/15 - Malattie del Sangue
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f1d5e41971c0fe03c12ca6bc3377b9c
http://hdl.handle.net/2108/162063 -
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المؤلفون: Donald W. Nicholson, Jamal Nasir, Duane Martindale, Shinji Hadano, Stephen W. Scherer, Guy A. Rouleau, Yoshiko Yanagisawa, Joh-E Ikeda, Jennifer Skaug, Keith Fichter, Ben F. Koop, Michael R. Hayden
المصدر: Genomics. 71(2)
مصطلحات موضوعية: Candidate gene, Sequence analysis, Juvenile amyotrophic lateral sclerosis, DNA Mutational Analysis, Molecular Sequence Data, CASP8 and FADD-Like Apoptosis Regulating Protein, Nerve Tissue Proteins, Biology, CFLAR, Exon, Gene mapping, Consensus Sequence, Genetics, Coding region, Humans, RNA, Messenger, Cloning, Molecular, Caspase 10, Gene, Adaptor Proteins, Signal Transducing, Gene Library, Caspase 8, Base Sequence, Amyotrophic Lateral Sclerosis, Intracellular Signaling Peptides and Proteins, Brain, Proteins, Physical Chromosome Mapping, Caspase 9, Caspases, Chromosomes, Human, Pair 2, Carrier Proteins, Co-Repressor Proteins
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