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المؤلفون: Claudia Ornstein, Anne S. Bassett, Matthew S. Hestand, Bruno Marino, Kelly Schoch, Tony J. Simon, Therese van Amelsvoort, Doron Gothelf, Carrie E. Bearden, Elemi J. Breetvelt, Michael P. Epstein, Tiffany Busa, Robert J. Shprintzen, David Cutler, Tao Wang, Leila Kushan-Wells, Donna M. McDonald-McGinn, Raquel E. Gur, Hayley Moss, Esther D. A. van Duin, B Dallapiccola, Joris Vermeesch, Clodagh M. Murphy, Yingjie Zhao, Rens Evers, María Angeles de la Fuente Sanches, Ann Swillen, H. Richard Johnston, Maria Pontillo, Steve Warren, Guido Lattanzi, Michael E. Zwick, Jacob A. S. Vorstman, Jeroen Breckpot, Oanh Tran, Stylianos E. Antonarakis, Stefano Vicari, Andrea Jin, Alexander Diacou, Miri Carmel, Christian R. Marshall, Abraham Weizman, Bernice E. Morrow, Fadi I Musfee, Wendy R. Kates, Michael John Owen, Fabio Di Fabio, Marco Armando, Erik Boot, Claudia Vingerhoets, Elizabeth Goldmuntz, Massimo Biondi, Kieran C. Murphy, Nancy Butcher, Declan G. Murphy, Candice K. Silversides, Isabelle Cleynen, T. Blaine Crowley, Vandana Shashi, Linda E. Campbell, Elaine H. Zackai, Ronnie Weinberger, Sixto García-Miñaur, Marianne Bernadette van den Bree, Fernando García Algas, Damian Heine-Suñer, Tracy Heung, Daniel E. McGinn, Maude Schneider, Stephan Eliez, Marta Unolt, Stephen R. Hooper, Kathryn McCabe, A. J. Agopian, Tingwei Guo, Zhengdong Zhang, Rosemarie Fritsch, Luis Fernández, Beverly S. Emanuel, Elfi Vergaelen, Alejandra Laorden-Nieto, Flora Tassone, Gabriela M. Repetto, Laura E. Mitchell, Antonino Buzzanca, Elena Michaelovsky, M. Cristina Digilio, Nicole Philip
المساهمون: RS: MHeNs - R2 - Mental Health, Psychiatrie & Neuropsychologie, MUMC+: MA Med Staf Spec Psychiatrie (9), Antonarakis, Stylianos
المصدر: American Journal of Human Genetics, 106(1), 26-40. Cell Press
Am J Hum Genet
American Journal of Human Genetics, Vol. 106, No 1 (2020) pp. 26-40
American journal of human genetics, vol 106, iss 1مصطلحات موضوعية: Male, Heart disease, PREDICTION, Chromosomes, Human, Pair 22, Haploinsufficiency, Cardiovascular, Medical and Health Sciences, Genetic modifier, Proto-Oncogene Mas, Linkage Disequilibrium, Cohort Studies, Congenital, ddc:616.89, Segmental Duplications, Genomic, DiGeorge syndrome, 2.1 Biological and endogenous factors, Chromosome 22q11.2 deletion syndrome, Copy-number variation, Aetiology, Genetics (clinical), Heart Defects, Pediatric, Genetics & Heredity, Genetics, cardio-facial syndrome, II DEFICIENCY, 0303 health sciences, variants, MOLECULAR DEFINITION, 030305 genetics & heredity, TBX1, Single Nucleotide, Biological Sciences, Segmental Duplications, Complex trait, Heart Disease, Phenotype, Female, tbx1 haploinsufficiency, Chromosome Deletion, Human, Heart Defects, Congenital, prevalence, Biology, Polymorphism, Single Nucleotide, Chromosomes, Article, 03 medical and health sciences, Complete sequence, Clinical Research, LOW-COPY REPEATS, medicine, Humans, Polymorphism, Allele, Conotruncal heart defects, International 22q11.2 Brain and Behavior Consortium, 030304 developmental biology, Sequence (medicine), Congenital heart disease, Copy number variation, Human Genome, association, CRKL, medicine.disease, chromosome 22q11.2 deletion syndrome, complex trait, congenital heart disease, conotruncal heart defects, copy number variation, genetic association, genetic modifier, haploinsufficiency, Case-Control Studies, Genome-Wide Association Study, Genomic, Genetic association, Pair 22
وصف الملف: application/pdf; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8700304c185800fa1b2e56de201d2874Test
https://cris.maastrichtuniversity.nl/en/publications/fcebc151-7a92-4dbe-8f36-bd15cb7462bbTest -
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المؤلفون: Donna M. McDonald-McGinn, Erica Hasten, Terrence B. Crowley, Elaine H. Zackai, Silvia E. Racedo, Bernice E. Morrow, Beverly S. Emanuel
المصدر: Human molecular genetics. 27(11)
مصطلحات موضوعية: 0301 basic medicine, TBX1, Heart Defects, Congenital, medicine.medical_specialty, Heart disease, Chromosomes, Human, Pair 22, Persistent truncus arteriosus, Embryonic Development, Biology, medicine.disease_cause, 03 medical and health sciences, Mice, 0302 clinical medicine, Internal medicine, DiGeorge syndrome, Gene duplication, Chromosome Duplication, Genetics, medicine, DiGeorge Syndrome, Animals, Humans, Abnormalities, Multiple, Homologous Recombination, Molecular Biology, Genetics (clinical), Aorta, Mutation, Gene Expression Regulation, Developmental, Heart, General Medicine, Articles, medicine.disease, Phenotype, Truncus Arteriosus, Persistent, Disease Models, Animal, Meiosis, 030104 developmental biology, Endocrinology, embryonic structures, 22q11.2 duplication syndrome, T-Box Domain Proteins, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30dd33d3240e5ca71689124cd7657052Test
https://pubmed.ncbi.nlm.nih.gov/29509905Test -
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المؤلفون: Cristina Montagna, Joy Samanich, Bernice E. Morrow, Melanie Babcock
المصدر: Journal of Pediatric Genetics. :047-053
مصطلحات موضوعية: Genetics, Psychomotor retardation, Biology, Phenotype, Short stature, Article, Pediatrics, Perinatology and Child Health, Gene duplication, medicine, Global developmental delay, Copy-number variation, Craniofacial, medicine.symptom, EP300, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::489840fe25b7436c5937218dd7736ef7Test
https://doi.org/10.3233/pge-2012-009Test -
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المؤلفون: Carrie E. Bearden, Donna M. McDonald-McGinn, Raquel E. Gur, Joris Vermeesch, Ann Swillen, Eva W.C. Chow, Jas Vorstman, M. van den Bree, Anne S. Bassett, Thomas Lehner, Bernice E. Morrow, Beverly S. Emanuel, Stephen T. Warren, Michael John Owen
المصدر: Molecular psychiatry, vol 22, iss 12
مصطلحات موضوعية: 0301 basic medicine, Male, Microarray, Medical and Health Sciences, Cohort Studies, 0302 clinical medicine, Models, 2.1 Biological and endogenous factors, Data Mining, Copy-number variation, Aetiology, Cooperative Behavior, Child, Genetics, Pediatric, Psychiatry, education.field_of_study, Genome, Biological Sciences, Middle Aged, Serious Mental Illness, Phenotype, Psychiatry and Mental health, Mental Health, Neurological, Female, Biotechnology, Adult, Psychosis, Adolescent, DNA Copy Number Variations, Population, Models, Neurological, Locus (genetics), Biology, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, Rare Diseases, Genetic, medicine, DiGeorge Syndrome, Humans, Genetic Predisposition to Disease, education, Molecular Biology, Gene, Aged, Whole genome sequencing, Models, Genetic, Human Genome, Psychology and Cognitive Sciences, Neurosciences, medicine.disease, Brain Disorders, Scholarly Communication, 030104 developmental biology, Schizophrenia, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::480e7eca89d475e2795159d297918044Test
https://pubmed.ncbi.nlm.nih.gov/28761081Test -
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المؤلفون: Mark Bowser, Anna Blonska, Jordi Rosell, Elaine H. Zackai, Molly B. Sheridan, Tao Wang, Wendy R. Kates, Bernice E. Morrow, Robert J. Shprintzen, Jonathan H. Chung, Jacob Johnson, Damian Heine-Suñer, Xin Zheng, M. Cristina Digilio, Donna M. McDonald McGinn, Nicole Philip, Koen Devriendt, Jeroen Breckpot, Karlene Coleman, Anne Marie Higgins, Courtney Carpenter, Tingwei Guo, Beverly S. Emanuel, Frits A. Beemer, Anne S. Bassett, Marcella Devoto, Sean Herman, Eva W.C. Chow, Bruno Dallapiccola, Bruno Marino, Alan L. Shanske, Tony J. Simon, Ann Swillen
المصدر: American Journal of Medical Genetics Part A. :2781-2787
مصطلحات موضوعية: Male, TBX1, Genotype, genomic disorder, cleft palate, 22q11.2 deletion syndrome, 2 deletion syndrome, tbx1 sequencing, 22q11, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Article, DiGeorge syndrome, Gene Order, DiGeorge Syndrome, Prevalence, Genetics, medicine, Humans, Allele, Genotyping, Genetic Association Studies, Genetics (clinical), Exome sequencing, Base Sequence, Microdeletion syndrome, medicine.disease, Cleft Palate, Phenotype, Female, T-Box Domain Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a04750c1c37fc1c90c89cb368ae8937Test
https://doi.org/10.1002/ajmg.a.35512Test -
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المؤلفون: Anne S. Bassett, Marcella Devoto, Nicole Philip, Stephan Eliez, Ann Swillen, Deanne Taylor, Carrie E. Bearden, Koen Devriendt, Molly B. Sheridan, Beverly S. Emanuel, Elizabeth Goldmuntz, Silvia E. Racedo, Maria Cristina Digilio, Michael Xie, Elaine H. Zackai, Bruno Dallapiccola, Jacob A. S. Vorstman, Bernice E. Morrow, Karlene Coleman, Amy E. Roberts, Bruno Marino, Tony J. Simon, Jeroen Breckpot, Elisabeth E. Mlynarski, Eva W.C. Chow, Doron Gothelf, Donna M. McDonald-McGinn, Tingwei Guo, Małgorzata Piotrowicz, Damian Heine Suñer, Wendy R. Kates
المصدر: Human genetics, vol 135, iss 3
Human Genetics, Vol. 135, No 3 (2016) pp. 273-285
Mlynarski, EE; Xie, M; Taylor, D; Sheridan, MB; Guo, T; Racedo, SE; et al.(2016). Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Human Genetics, 135(3), 273-285. doi: 10.1007/s00439-015-1623-9. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/49g9k7pjTestمصطلحات موضوعية: 0301 basic medicine, Heart Defects, Congenital, DNA Copy Number Variations, Genotyping Techniques, Chromosomes, Human, Pair 22, Population, Biology, Bioinformatics, Cardiovascular, Article, Chromosomes, International Chromosome 22q11.2 Consortium, Paediatrics and Reproductive Medicine, 03 medical and health sciences, ddc:616.89, Congenital, Rare Diseases, Complementary and Alternative Medicine, Clinical Research, DiGeorge syndrome, medicine, DiGeorge Syndrome, Genetics, Humans, 2.1 Biological and endogenous factors, Copy-number variation, Aetiology, education, Genetics (clinical), Heart Defects, Pediatric, Genetics & Heredity, education.field_of_study, Prevention, Human Genome, Microdeletion syndrome, medicine.disease, Phenotype, Human genetics, 030104 developmental biology, Heart Disease, Etiology, Congenital Structural Anomalies, Pair 22, Chromosome Deletion, SNP array, Human
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30205f5fd91172f1e023fd6b4058f25cTest
https://escholarship.org/uc/item/49g9k7pjTest -
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المؤلفون: Bernice E. Morrow, Cynthia J. Curry, Robert W. Marion, Cynthia M. Powell, Sheila J. Upton, Elaine Pereira, Eva Andermann, Arthur S. Aylsworth, Abby K. Stevens, Lisa G. Shaffer, Bryce A. Heese, Frederick Andermann, John B. Moeschler, Dina Amrom, Blake C. Ballif, Melissa K. Maisenbacher, Allen N. Lamb, Kandamurugu Manickam, Melanie Babcock, Trilochan Sahoo, Martin Veilleux, Jill A. Rosenfeld, Jay W. Ellison, Cathy A. Stevens, Alex R. Paciorkowski, Wilfredo Torres-Martinez, Jamie Fisher
المصدر: neurogenetics. 13:31-47
مصطلحات موضوعية: Adult, Male, Candidate gene, Ataxia, Developmental Disabilities, Biology, Young Adult, Cellular and Molecular Neuroscience, Gene cluster, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Gene, Genetic Association Studies, In Situ Hybridization, Fluorescence, Genetics (clinical), Microarray analysis techniques, Computational Biology, Infant, Microarray Analysis, Phenotype, Human genetics, Child, Preschool, Chromosomes, Human, Pair 6, Female, Chromosome Deletion, medicine.symptom, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::651b71366c3f3cd38b25310b22f8eab9Test
https://doi.org/10.1007/s10048-011-0306-5Test -
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المؤلفون: Xin Zheng, Tingwei Guo, Karlene Coleman, Anne Marie Higgins, Jacob Johnson, Jordi Rosell, Alan L. Shanske, Courtney Carpenter, Donna M. McDonald-McGinn, Ann Swillen, Frits A. Beemer, Anna Blonska, Molly B. Sheridan, Robert J. Shprintzen, Jeroen Breckpot, Anne S. Bassett, Marcella Devoto, Beverly S. Emanuel, Eva W.C. Chow, Maria Cristina Digilio, Elizabeth Goldmuntz, Elaine H. Zackai, Mark Bowser, Wendy R. Kates, Bernice E. Morrow, Jonathan H. Chung, Damian Heine-Suñer, Bruno Dallapiccola, Bruno Marino, Tony J. Simon, Nicole Philip, Koen Devriendt, Tao Wang
المصدر: Human Mutation. 32:1278-1289
مصطلحات موضوعية: TBX1, 22q11 Deletion Syndrome, Genotype, Chromosomes, Human, Pair 22, Cardiovascular Abnormalities, Single-nucleotide polymorphism, Biology, Bioinformatics, Polymorphism, Single Nucleotide, Article, DiGeorge syndrome, DiGeorge Syndrome, Genetics, medicine, Humans, cardiovascular defects, genomic disorder, 22q11.2 deletion syndrome, tbx1 sequencing, Genetics (clinical), Haplotype, Genetic Variation, medicine.disease, Minor allele frequency, Phenotype, Haplotypes, T-Box Domain Proteins, Haploinsufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e89311fb58480c755c38cc099975dfeTest
https://doi.org/10.1002/humu.21568Test -
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المؤلفون: Marcia A. Friedman, Cheryl A. Roe, Bernice E. Morrow, Anne Marie Higgins, Dongliang Wang, Robert J. Shprintzen, Nathanial R Miletta, Wendy R. Kates
المصدر: International Journal of Pediatric Otorhinolaryngology. 75:1167-1172
مصطلحات موضوعية: Adult, Heart Defects, Congenital, Male, TBX1, Heart disease, Chromosomes, Human, Pair 21, Retrognathia, Bioinformatics, Severity of Illness Index, Article, Cohort Studies, Young Adult, DiGeorge Syndrome, Prevalence, Humans, Medicine, Abnormalities, Multiple, Genetic Predisposition to Disease, Child, Aged, Retrospective Studies, Tetralogy of Fallot, Chromosome Aberrations, business.industry, Infant, Newborn, Infant, Retrospective cohort study, General Medicine, Anatomy, Middle Aged, medicine.disease, Phenotype, United States, Cleft Palate, Otorhinolaryngology, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, business, Chromosome 22, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f744f378d5e4e62669d1a6c81413c46Test
https://doi.org/10.1016/j.ijporl.2011.06.013Test -
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المؤلفون: Melanie Babcock, Sadaf Farooqi, Chih Kang Huang, Joy Samanich, Qiulu Pan, Jana Reinmund, Bernice E. Morrow, Marilena Petti
المصدر: American Journal of Medical Genetics Part A. 155:825-832
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Genetic counseling, Prenatal diagnosis, PDE4B, Gene Order, Genetics, Humans, Medicine, Family history, Psychiatry, Genetic Association Studies, Genetics (clinical), Comparative Genomic Hybridization, business.industry, Mental Disorders, Breakpoint, Karyotype, Phenotype, Cyclic Nucleotide Phosphodiesterases, Type 4, Pedigree, Chromosomes, Human, Pair 1, Obesity, Abdominal, Receptors, Leptin, Chromosome Deletion, business, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee760a76dedd8fea74cfa9003a500b41Test
https://doi.org/10.1002/ajmg.a.33869Test