المؤلفون: Kristen L. Sund, Kenneth M. Kaufman, Elizabeth K. Schorry, Cynthia A. Prows, Andrew DiStasio, Biplab Dasgupta, Beth M. Kline-Fath, Ashley M. Driver, Milene Donlin, Ranjith M. Muraleedharan, Rolf W. Stottmann, Shabnam Pooya

المصدر: Human Molecular Genetics. 26:4836-4848

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, Microcephaly, WD40 Repeats, Embryonic Development, Biology, medicine.disease_cause, Coatomer Protein, Mice, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Intellectual Disability, Exome Sequencing, Genetics, medicine, Animals, Humans, Allele, Child, Molecular Biology, Genetics (clinical), Exome sequencing, 030304 developmental biology, 0303 health sciences, Mutation, Homozygote, Articles, General Medicine, medicine.disease, Null allele, COPB2, Phenotype, Pedigree, Disease Models, Animal, Corticogenesis, 030104 developmental biology, Female, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5acbfeea2dc39e8d01767f7eeffca177Test
https://doi.org/10.1093/hmg/ddx362Test

المؤلفون: William J, Lavery, Artem, Barski, Susan, Wiley, Elizabeth K, Schorry, Andrew W, Lindsley

المصدر: Clinical Epigenetics

مصطلحات موضوعية: Heart Defects, Congenital, Male, COMPASS complex, Demethylase, Lysine methyltransferase, Review, CBP, Craniofacial Abnormalities, Kleefstra syndrome, Intellectual Disability, Humans, Abnormalities, Multiple, KDM6A, Histone deacetylase, Rubinstein-Taybi syndrome, EP300, Kabuki syndrome, EHMT1, KMT2D, KMT2C, Hematologic Diseases, Neoplasm Proteins, DNA-Binding Proteins, Phenotype, Vestibular Diseases, Face, Female, Epigenetics, Chromosome Deletion, Chromosomes, Human, Pair 9

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::e56dfaa52ca72ce8a005b41e8a2a27a1Test
https://pubmed.ncbi.nlm.nih.gov/31924266Test

المؤلفون: David A. Stevenson, Emily Sites, Teresa A. Smolarek, David Viskochil, Ludwine Messiaen, Nicole J. Ullrich, Lisa J. Martin, Elizabeth K. Schorry

المصدر: American journal of medical genetics. Part A. 173(3)

مصطلحات موضوعية: 0301 basic medicine, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Microarray, Adolescent, DNA Copy Number Variations, Genotype, Concordance, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Variable Expression, 03 medical and health sciences, Young Adult, Genetics, medicine, SNP, Humans, Copy-number variation, Neurofibromatosis, Child, Genetics (clinical), Genetic Association Studies, Microarray analysis techniques, Chromosome Mapping, Twins, Monozygotic, medicine.disease, 030104 developmental biology, Phenotype, Child, Preschool, Mutation, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1c1442a81b48e43f87bb01d91285e02Test
https://pubmed.ncbi.nlm.nih.gov/27862945Test

المؤلفون: Zhishuo Ou, Elizabeth K. Schorry, Sung-Hae L. Kang, James R. Lupski, Pawel Stankiewicz, Mary-Alice Abbott, Gayle Patel, Sau Wai Cheung, LaDonna Immken, Brendan C. Lanpher, Ankita Patel, Teresa A. Smolarek, Martha E. Walker, Fernando Scaglia, Ayman W. El-Hattab

المصدر: Human Genetics. 126:589-602

مصطلحات موضوعية: Male, Adolescent, Gene Dosage, Biology, Short stature, Article, Gene Duplication, Gene duplication, Genetics, medicine, Humans, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Chromosomes, Human, Pair 15, Comparative Genomic Hybridization, Breakpoint, Chromosome Mapping, Infant, Chromosome Breakage, medicine.disease, Hypotonia, Human genetics, Phenotype, Asperger syndrome, Child, Preschool, Female, Chromosome Deletion, medicine.symptom, Chromosome breakage, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c2ba1b76db0833dd7495deec3cc10a3Test
https://doi.org/10.1007/s00439-009-0706-xTest

المؤلفون: N. Lanphear, R.I. Blough-Pfau, S. Srodulski, Mehdi Keddache, G.A. Grabowski, Jack Rubinstein, D. Fletcher, Elizabeth K. Schorry

المصدر: American Journal of Medical Genetics Part A. :2512-2519

مصطلحات موضوعية: Genotype, Mutation, Missense, medicine.disease_cause, Cohort Studies, Genetics, medicine, Missense mutation, Autistic Disorder, CREB-binding protein, EP300, Growth Disorders, In Situ Hybridization, Fluorescence, Genetics (clinical), Retrospective Studies, Rubinstein-Taybi Syndrome, Mutation, Rubinstein–Taybi syndrome, biology, Exons, medicine.disease, CREB-Binding Protein, Phenotype, Alternative Splicing, Amino Acid Substitution, Mutation testing, biology.protein, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b53b72c8ab57d36f9069a4a9ad5a4997Test
https://doi.org/10.1002/ajmg.a.32424Test

المؤلفون: Angela E. Scheuerle, Ludwine Messiaen, Yunjia Chen, Kitiwan Rojnueangnit, Martin G. Bialer, Kathy A. Leppig, Anne Destree, Salmo Raskin, Mary Alice Abbott, Jennifer Ibrahim, Shay Ben-Shachar, Jordi Rosell, Elizabeth K. Schorry, Patricia Galvin-Parton, James H. Tonsgard, Tom Callens, Dawn L. Earl, Begona Ezquieta, Eniko K. Pivnick, Dennis Bartholomew, Sandra Janssens, Christian P. Schaaf, Meagan E. Cochran, Gary Bellus, Stephanie E Wallace, Isabel Llano-Rivas, Vinodh Narayanan, Angela Sharp, Anna Duat-Rodriguez, Helio Pedro, Ishwar C. Verma, Meredith Schultz, Ying Liu, Jing Xie, Dusica Babovic-Vuksanovic, Elizabeth Siqveland, Kathleen Claes, Bruce Blumberg, Vinod K. Misra, Meena Upadhyaya, Rhonda E. Schnur, Jonathan Zonana, Elaine H. Zackai, Eric Legius, Bruce R. Korf, Melissa Crenshaw, David P. Bick, Fanny Cortés, Joan F. Atkin, Alicia Gomes, Marie T. McDonald, Linda M. Randolph, Lina Basel, Conxi Lázaro, Margretta R. Seashore, Karen W. Gripp, Kurt Heyrman, Beth Keena, Marthanda Eswara, Moshe Frydman, Christopher P. Barnett, Yolanda Martin, Jennifer Mulbury, Luis F. Escobar, Amanda Tkachuk, Naama Orenstein, Kathy Gardner, Karen L. David, Karol Rubin, Charles A. Williams, Concepción Hernández-Chico, Cynthia M. Powell, Ian M. Frayling

المصدر: Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Human Mutation
HUMAN MUTATION

مصطلحات موضوعية: Proband, Male, humanos, adolescente, medicine.disease_cause, Cohort Studies, enanismo, Missense mutation, estudios de cohortes, Child, mediana edad, Genetics (clinical), Research Articles, phenotype–genotype correlations, Genetics, Mutation, Neurofibromin 1, p.Arg1809, Noonan Syndrome, sustitución de aminoácidos, adulto, Middle Aged, estudios de asociación genética, Arg1809, adulto joven, Legius syndrome, Phenotype, OF-THE-LITERATURE, Child, Preschool, fenotipo, Female, medicine.symptom, STANDARDS, Research Article, Adult, congenital, hereditary, and neonatal diseases and abnormalities, VONRECKLINGHAUSEN NEUROFIBROMATOSIS, Adolescent, Pulmonic stenosis, Mutation, Missense, Dwarfism, Biology, Short stature, neurofibromatosis type 1, Young Adult, medicine, Humans, Neurofibromatosis, Codon, mutación, Genetic Association Studies, lactante, OPTIC PATHWAY TUMORS, Biology and Life Sciences, Infant, NEUROFIBROMATOSIS TYPE-1 PATIENTS, SOUTH EAST WALES, medicine.disease, GENE, DELETIONS, CARDIOVASCULAR MALFORMATIONS, Amino Acid Substitution, NF1, síndrome de Noonan, phenotype-genotype correlations, Noonan syndrome, neurofibromina 1, codón

وصف الملف: application/pdf; Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48a9df3c1f7cd6663ed2834738a47b22Test
https://hdl.handle.net/20.500.12530/21276Test

المؤلفون: Yang Tang, Frank R. Sharp, Aigang Lu, Ruiqiong Ran, David M. Ficker, Neil W. Richtand, Tracy A. Glauser, Alok Sahay, Andrew D. Hershey, Jerzy P. Szaflarski, Michael Privitera, Arif Dalvi, Nancy Ratner, Bruce J. Aronow, Robert J. Hopkin, Elizabeth K. Schorry, Donald L. Gilbert

المصدر: Molecular Brain Research. 132:155-167

مصطلحات موضوعية: Adult, Male, Neurofibromatosis 1, Adolescent, Lymphocyte, Biology, Germline, Cellular and Molecular Neuroscience, Sex Factors, Genetic model, Gene expression, medicine, Humans, Molecular Biology, Gene, Oligonucleotide Array Sequence Analysis, Genetics, Reverse Transcriptase Polymerase Chain Reaction, Age Factors, Chromosome, Genomics, Middle Aged, Blood Physiological Phenomena, Phenotype, Gene expression profiling, medicine.anatomical_structure, Immunology, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf20276b4117cb1909589b65b09907f8Test
https://doi.org/10.1016/j.molbrainres.2003.10.014Test

المؤلفون: Thomas Webb, Carol A. Christianson, Elizabeth K. Schorry, Brad T. Tinkle, Robert J. Hopkin

المصدر: American Journal of Medical Genetics. :66-70

مصطلحات موضوعية: Genetics, Survival, Mild dysmorphic features, Hyperphagia, Biology, Bioinformatics, Long arm, Phenotype, Natural history, Chromosome 18, Intellectual Disability, Cytogenetic Analysis, Long term survival, Chromosomal Abnormality, Humans, Female, Deletion syndrome, Chromosomes, Human, Pair 18, Genetics (clinical), Aged, Sequence Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f258fb68fe8933ae47e69b68ccb003bTest
https://doi.org/10.1002/ajmg.a.10217Test

المؤلفون: Elizabeth K Schorry

مصطلحات موضوعية: High rate, Genetics, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, mental disorders, Gene chip analysis, Epigenetics, Copy-number variation, Biology, Clinical phenotype, Gene, Phenotype

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::59cbac0712e4ac8891fe37641f5dbcf6Test
https://doi.org/10.21236/ada554129Test

المؤلفون: David Viskochil, Elizabeth K. Schorry, David A. Stevenson, Brad T. Tinkle, Lisa J. Martin, Margaret B. Rieley

المصدر: American journal of medical genetics. Part A. (3)

مصطلحات موضوعية: Genetics, Male, Neurofibromin 1, Adolescent, Concordance, Monozygotic twin, Scoliosis, Twins, Monozygotic, Biology, medicine.disease, Twin study, Phenotype, Variable Expression, Radiography, Child, Preschool, medicine, Humans, Female, Neurofibromatosis, Child, Genetics (clinical), Dystrophic features

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bbf393597aa54f1c9c3af8eef5def3aTest
https://pubmed.ncbi.nlm.nih.gov/21337691Test