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1
المؤلفون: Lauren Lulis, Jennifer L. Cohen, Jennifer Tarpinian, Sarah Mazzola, Emma Bedoukian, Katheryn Grand, Cara M. Skraban, Beth Denenberg, Matthew A. Deardorff, Leah Dowsett, Elaine H. Zackai, Addie I. Nesbitt, Avni Santani
المصدر: American Journal of Medical Genetics Part A. 185:2766-2775
مصطلحات موضوعية: Male, 0301 basic medicine, Mutation, Missense, Retinoic acid, Ulna, Disease, 030105 genetics & heredity, Bioinformatics, Compound heterozygosity, Craniosynostosis, 03 medical and health sciences, chemistry.chemical_compound, Intellectual disability, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Family, Child, Genetics (clinical), Fetus, business.industry, Homozygote, Infant, Retinoic Acid 4-Hydroxylase, medicine.disease, Conductive hearing loss, Radius, Phenotype, 030104 developmental biology, Synostosis, chemistry, Female, business
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2
المؤلفون: Donna M. McDonald-McGinn, Raquel E. Gur, Nickole Kanyuch, Jorge I. Alvarez, Hania Kebir, James Gesualdi, Caroline Canning, Angela N. Viaene, Guadalupe Ceja, Stewart A. Anderson, Richa Kapoor, Sean K. Ryan, Elaine H. Zackai, Alexis M. Crockett, Adriana Hernandez Vasquez, Naïl Benallegue
المصدر: Brain
مصطلحات موضوعية: 0301 basic medicine, 22q11 Deletion Syndrome, Endothelium, Intercellular Adhesion Molecule-1, Immune Privilege, Blood–brain barrier, Proinflammatory cytokine, Mice, 03 medical and health sciences, 0302 clinical medicine, Immune privilege, Report, medicine, Animals, Humans, Induced pluripotent stem cell, Neuroinflammation, Inflammation, business.industry, 030104 developmental biology, medicine.anatomical_structure, Blood-Brain Barrier, Astrocytes, Immunology, Neurology (clinical), business, 030217 neurology & neurosurgery, Astrocyte
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6188112643b07c836636194bd36073e
https://doi.org/10.1093/brain/awab055 -
3De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
المؤلفون: Eugênia Ribeiro Valadares, Kaitlyn M Shen, Sérgio D.J. Pena, Alanna Strong, Dong Li, Natália D. Linhares, David Cassiman, Elaine H. Zackai, Deindl Philipp, Penny Chow, Arupa Ganguly, Jaak Jaeken, Samantha A. Schrier Vergano, Maria Van Dyck, Tatjana Bierhals, Tiancheng Wang, Elizabeth J. Bhoj, Hakon Hakonarson, Anne Hing, Tasja Scholz
المصدر: Genetics in Medicine. 23:637-644
مصطلحات موضوعية: 0301 basic medicine, Genetics, business.industry, media_common.quotation_subject, Nonsense, 030105 genetics & heredity, medicine.disease, Frameshift mutation, MED12, 03 medical and health sciences, 030104 developmental biology, Intestinal malrotation, Intellectual disability, medicine, Missense mutation, business, Genetics (clinical), Exome sequencing, Loss function, media_common
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المؤلفون: Meryl S. Cohen, David A. Stevenson, Sarah E Sheppard, Dena R. Matalon, Beth Keena, Angela E. Lin, Elizabeth J. Bhoj, Elaine H. Zackai, Avni Santani
المصدر: Am J Med Genet A
مصطلحات موضوعية: Heart Defects, Congenital, Male, Proto-Oncogene Proteins B-raf, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Cardiovascular Abnormalities, Dwarfism, Protein Tyrosine Phosphatase, Non-Receptor Type 11, Disease, 030105 genetics & heredity, RASopathy, Short stature, Article, 03 medical and health sciences, Genetics, medicine, Humans, Child, Genetics (clinical), business.industry, Noonan Syndrome, Infant, Newborn, Hypertrophic cardiomyopathy, Facies, Infant, Cardiomyopathy, Hypertrophic, medicine.disease, Connective tissue disease, Musculoskeletal Abnormalities, Pulmonary Valve Stenosis, PTPN11, Phenotype, 030104 developmental biology, Aortic Valve, Child, Preschool, Cohort, Skin Abnormalities, ras Proteins, Noonan syndrome, Female, medicine.symptom, business
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المؤلفون: K. Taylor Wild, Tomoki T Nomakuchi, Elaine H. Zackai, Diva D. De León, Sarah E Sheppard, Karla F. Leavens
المصدر: Am J Med Genet A
مصطلحات موضوعية: 0301 basic medicine, Genetics, Microcephaly, Genetic syndromes, Rubinstein–Taybi syndrome, business.industry, 030105 genetics & heredity, Hypoglycemia, medicine.disease, Article, 03 medical and health sciences, 030104 developmental biology, Growth restriction, Intellectual disability, medicine, EP300, business, Hyperinsulinism, Genetics (clinical)
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المؤلفون: Elaine H. Zackai, Kaitlyn M Shen, Dong Li, Elizabeth J. Bhoj
المصدر: American Journal of Medical Genetics Part A. 182:3035-3039
مصطلحات موضوعية: 0301 basic medicine, Mutation, education.field_of_study, Microcephaly, Pathology, medicine.medical_specialty, business.industry, Population, 030105 genetics & heredity, Cortical dysplasia, medicine.disease_cause, medicine.disease, Phenotype, 03 medical and health sciences, 030104 developmental biology, Genetics, medicine, Missense mutation, education, business, Allele frequency, Genetics (clinical), Exome sequencing
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7
المؤلفون: Daniel E. McGinn, Marsha Gerdes, Beverly S. Emanuel, Sean Gallagher, Terrence B. Crowley, Elaine H. Zackai, Donna M. McDonald-McGinn, Raquel E. Gur, Kosha Ruparel, Cynthia Solot, Ruben C. Gur, Monica E. Calkins, Tyler M. Moore, Edward Moss
المصدر: Am J Med Genet B Neuropsychiatr Genet
مصطلحات موضوعية: Male, 0301 basic medicine, Psychosis, Adolescent, Population, Prodromal Symptoms, 030105 genetics & heredity, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Cognition, Language assessment, DiGeorge Syndrome, medicine, Cognitive development, Humans, Speech, Child, education, Association (psychology), Genetics (clinical), Language, Intelligence Tests, education.field_of_study, Intelligence quotient, Verbal Behavior, medicine.disease, Psychiatry and Mental health, 030104 developmental biology, Psychotic Disorders, Child, Preschool, Structured interview, Schizophrenia, Female, Chromosome Deletion, Psychology, Clinical psychology
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8
المؤلفون: Ming Xiao, Lahari Uppuluri, Beverly S. Emanuel, Donna M. McDonald-McGinn, Daniel E. McGinn, Deanne Taylor, Benjamin A. Silva, T. Blaine Crowley, Michael Xie, Heba Z. Abid, Bernice E. Morrow, Steven Pastor, Elaine H. Zackai, Oanh Tran, Alice Bailey, Eleanor Young, Danielle Carrado, Andrea Jin
المصدر: Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reportsمصطلحات موضوعية: Male, 0301 basic medicine, Chromosomes, Human, Pair 22, Non-allelic homologous recombination, lcsh:Medicine, Biology, Genome informatics, Article, 03 medical and health sciences, Segmental Duplications, Genomic, 0302 clinical medicine, DiGeorge Syndrome, Humans, Homologous Recombination, lcsh:Science, Gene, Alleles, Segmental duplication, Genome, Multidisciplinary, Genome, Human, Haplotype, Breakpoint, lcsh:R, Chromosome Mapping, Low copy repeats, 030104 developmental biology, Haplotypes, Evolutionary biology, 030220 oncology & carcinogenesis, Female, Human genome, lcsh:Q, Chromosome Deletion, Homologous recombination
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المؤلفون: Sangmoon Lee, Ryojun Takeda, Nataliya Di Donato, Masashige Bando, Darina Prchalova, Mathieu Quesnel-Vallières, Seiji Mizuno, Naomichi Matsumoto, Koji Masuda, Miroslava Hancarova, Margaret Harr, Karl Hackmann, Zdenek Sedlacek, Alica Valachova, Alyssa Ritter, Eriko Nishi, Tommaso Pippucci, Michiko Arakawa, Katsuhiko Shirahige, Katsunori Fujiki, Elaine H. Zackai, Noriko Miyake, Marketa Vlckova, Ryuichiro Nakato, Aiko Iwata-Otsubo, Yoseph Barash, Christoph Seiler, Dong Li, Beth Keena, Nobuhiko Okamoto, Kosuke Izumi, Jung Min Ko, Sarah K. Fiordaliso, Elizabeth J. Bhoj, Hakon Hakonarson, Murim Choi, Jenny Morton
المصدر: Am J Hum Genet
مصطلحات موضوعية: 0301 basic medicine, Transcription, Genetic, Mutation, Missense, Down-Regulation, Biology, Histone Deacetylases, Transcriptome, 03 medical and health sciences, Exon, 0302 clinical medicine, Genes, X-Linked, Report, Genetics, Transcriptional regulation, Animals, Humans, Missense mutation, Cognitive Dysfunction, Amino Acid Sequence, Gene, Zebrafish, Genetics (clinical), X chromosome, Spliceosomal complex, Exons, biology.organism_classification, Repressor Proteins, 030104 developmental biology, Gene Expression Regulation, Sequence Alignment, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e482e0e75fe75f8dd9e62c99c9b3fb4
https://doi.org/10.1016/j.ajhg.2019.09.009 -
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المؤلفون: Carolina Baquero-Montoya, Heiko Reutter, Andreas Busche, Yiran Guo, A. Micheil Innes, Alisha Wilkens, Nuria C. Bramswig, Donatella Milani, Denise Horn, Birgit Zirn, Roberta Onesimo, Beate Albrecht, Alma Kuechler, Sally Ann Lynch, Xilma R. Ortiz-Gonzalez, Irina Hüning, Britta Hanker, Cristina Gervasini, Matthew A. Deardorff, Giuseppe Zampino, Gabriele Gillessen-Kaesbach, Peter Wieacker, Livija Medne, Andreas Dalski, Chiara Leoni, Milena Mariani, Eva Christina Prott, Barbara Mikat, Yorck Hellenbroich, Axel Bohring, Ilaria Parenti, Eva Rossier, Elaine H. Zackai, Angelo Selicorni, Dagmar Wieczorek, Emanuele Agolini, Mark B. Mallozzi, Frank J. Kaiser, Hakon Hakonarson, Yun Li
المصدر: Clinical geneticsREFERENCES. 100(2)
مصطلحات موضوعية: 0301 basic medicine, Male, Cornelia de Lange Syndrome, Adolescent, Medizin, 030105 genetics & heredity, Biology, 03 medical and health sciences, Broad spectrum, Young Adult, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Genetics (clinical), Bone Diseases, Developmental, Tooth Abnormalities, Facies, KBG SYNDROME, medicine.disease, Phenotype, Pedigree, Developmental disorder, Repressor Proteins, 030104 developmental biology, Clinical diagnosis, Child, Preschool, Face, Mutation, Female