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1
المؤلفون: Jim Tepperberg, LaDonna Immken, David J. Amor, Stuart Schwartz, Virginia K. Proud, Peter Papenhausen, Joris Andrieux, Romela Pasion, Ghislaine Plessis, Tiong Yang Tan, Hiba Risheg, Elisabeth A. Keitges, Stephanie Sacharow
المصدر: American Journal of Medical Genetics Part A. 161:1110-1116
مصطلحات موضوعية: Male, Heart malformation, Developmental Disabilities, MAP2K2, Biology, Polymorphism, Single Nucleotide, Young Adult, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Copy-number variation, Child, In Situ Hybridization, Fluorescence, Genetics (clinical), Sequence Deletion, Microarray analysis techniques, Macrocephaly, Microarray Analysis, Phenotype, Child, Preschool, Female, medicine.symptom, Haploinsufficiency, Chromosomes, Human, Pair 19, SNP array
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2
المؤلفون: Hiba Risheg, Romela Pasion, Peter Papenhausen, Elisabeth A. Keitges, John Pappas, Kenneth J. Friedman, Rachel D. Burnside, Inder K. Gadi, Vikram L. Jaswaney, James Tepperberg, Stuart Schwartz
المصدر: American Journal of Medical Genetics Part A. 155:757-768
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Microarray, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Young Adult, Genotype, Genetics, medicine, Humans, SNP, Allele, Child, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Chromosomes, Human, Pair 15, Homozygote, Infant, Newborn, Infant, Chromosome, Uniparental Disomy, medicine.disease, Uniparental disomy, SNP genotyping, Child, Preschool, Female, Microsatellite Repeats
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3
المؤلفون: Teresa Dunn, Romela Pasion, Carlos O. Fernandez, Rachel D. Burnside, Carla Mason, Joseph A. Gebbia, Meredith Masiello, Antonio Gonzalez-Ruiz, Hiba Risheg, Elisabeth A. Keitges
المصدر: American journal of medical genetics. Part A. (7)
مصطلحات موضوعية: Heart Defects, Congenital, Heart Septal Defects, Ventricular, Pathology, medicine.medical_specialty, Prenatal diagnosis, Haploinsufficiency, Biology, Polymorphism, Single Nucleotide, Ultrasonography, Prenatal, DNA Glycosylases, Monosomy, Pregnancy, Prenatal Diagnosis, Genetics, medicine, DNA-(Apurinic or Apyrimidinic Site) Lyase, Humans, Diaphragmatic hernia, Atrioventricular canal defect, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Hernia, Diaphragmatic, GATA4, Infant, Newborn, Congenital diaphragmatic hernia, medicine.disease, Penetrance, GATA4 Transcription Factor, cardiovascular system, Female, Hernias, Diaphragmatic, Congenital, SNP array, Chromosomes, Human, Pair 8
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4
المؤلفون: C. G. Palmer, F. Elder, J. T. Lanman, S. Schwartz, Mark J. Pettenati, M. D. Higgins, Elisabeth A. Keitges, J. Brown, Kathleen W. Rao, F. Grass, R. R. Higgins, M. G. Butler, D. L. Van Dyke, Colleen Jackson-Cook, P. N. Rao, J. L. Smith, P. Cosper, A. J. Carroll, M. C. Phelan, F.W. Luthardt
المصدر: American Journal of Medical Genetics. 55:171-187
مصطلحات موضوعية: Recombination, Genetic, Genetics, Autosome, Offspring, Incidence, Breakpoint, Chromosome, Aneuploidy, Syndrome, Biology, medicine.disease, Congenital Abnormalities, Chromosome Inversion, Gene duplication, medicine, Humans, Genetics (clinical), Chromosomal Deletion, Chromosomal inversion
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5
المؤلفون: Elisabeth A. Keitges, Carolyn D. Applegate, Janice L. Smith, Vikram L. Jaswaney, Stephanie Sacharow, Stuart Schwartz, Hiba Risheg, Peter Papenhausen, Jim Tepperberg, Ada Hamosh, Rachel D. Burnside, John Pappas, Venketaswara R. Potluri, Karen Phillips, Inder K. Gadi
المصدر: American journal of medical genetics. Part A. (4)
مصطلحات موضوعية: Adult, Heart Defects, Congenital, Male, Microarray, Genome-wide association study, Biology, Polymorphism, Single Nucleotide, User-Computer Interface, Genetics, medicine, Humans, Abnormalities, Multiple, Gene, Genetics (clinical), Segmental duplication, Facies, Molecular biology, Phenotype, GATA4 Transcription Factor, Child, Preschool, Speech delay, Female, medicine.symptom, Chromosome Deletion, Haploinsufficiency, SNP array, Chromosomes, Human, Pair 8, Genome-Wide Association Study, Microsatellite Repeats
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6
المؤلفون: Frederick W. Luthardt, Elisabeth A. Keitges
المصدر: eLS
مصطلحات موضوعية: Genetics, Chromosome engineering, Chromosome number, Autosome, Chromosome, Chromosomal translocation, Disease, Biology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::30a338dc9dfae617fde4f2591ee1c63b
https://doi.org/10.1038/npg.els.0001446 -
7
المؤلفون: Nathan Ellis, Elisabeth A. Keitges, Mariano Rocchi, Stanley M. Gartler
المصدر: Somatic Cell and Molecular Genetics. 13:191-204
مصطلحات موضوعية: Genetic Markers, Hamster, Hybrid Cells, Biology, Methylation, Chinese hamster, Cell Line, chemistry.chemical_compound, Cricetulus, Cricetinae, Dosage Compensation, Genetic, Genetics, Animals, Humans, Gene, X chromosome, Demethylation, Phosphoglycerate kinase, Cell Biology, General Medicine, biology.organism_classification, Molecular biology, Demethylating agent, Gene Expression Regulation, chemistry, Azacitidine, Hypoxanthine Phosphoribosyltransferase
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8
المصدر: Genetics. 116:465-468
مصطلحات موضوعية: Recombination, Genetic, Genetics, Sex Determination Analysis, Mutation, Sex Chromosomes, Genetic Linkage, Ratón, Investigations, Biology, medicine.disease_cause, Y chromosome, Molecular biology, Mice, Genetic linkage, medicine, Steroid sulfatase, Animals, Steryl-Sulfatase, Sulfatases, Allele, Gene, Alleles, Recombination
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a52b7820a2abac93f88a9972a495741
https://doi.org/10.1093/genetics/116.3.465 -
9
المؤلفون: Stanley M. Gartler, Klaus Harbers, Daniel F. Schorderet, Philippe Soriano, Elisabeth A. Keitges, Rudolf Jaenisch
المصدر: Proceedings of the National Academy of Sciences of the United States of America. 84(20)
مصطلحات موضوعية: Genetic Markers, Male, Pseudoautosomal region, Mice, Transgenic, Biology, Interference (genetic), Y chromosome, Genetic recombination, Chromosomal crossover, Mice, Meiosis, Proviruses, Animals, Ectopic recombination, Crossing Over, Genetic, Genetics, Recombination, Genetic, Mice, Inbred BALB C, Mice, Inbred C3H, Multidisciplinary, Sex Chromosomes, Synapsis, Molecular biology, Steryl-Sulfatase, Sulfatases, Research Article
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c110af61c152b88c38927ce28db7731
https://pubmed.ncbi.nlm.nih.gov/3478692 -
10
المصدر: Nature. 315(6016)
مصطلحات موضوعية: Genetics, Male, Recombination, Genetic, Multidisciplinary, Sex Chromosomes, Genetic Linkage, Chromosome Mapping, Ichthyosis, Mice, Inbred Strains, Biology, Mice, Gene mapping, Genetic linkage, Congenital ichthyosis, Y linkage, Steroid sulfatase, Animals, Female, Steryl-Sulfatase, Allele, Sulfatases, Gene, X chromosome
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9de53b30735419fe073bd7ed762bd551
https://pubmed.ncbi.nlm.nih.gov/3858674