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المؤلفون: Lisa Taft, Dana C. Crawford, James L. Newman, Patricia Holmgreen, Dorothy Pettay, Stephanie L. Sherman, Coleen A. Boyle, Mary L. Stanfield, S. Jane Hersey, Laura B. Gold, Elizabeth F. Hinkle, Marshalyn Yeargin-Allsopp, Kellen L. Meadows
المصدر: The American Journal of Human Genetics. 64(2):495-507
مصطلحات موضوعية: Proband, Male, Population, Population control, Genetic determinism, medicine, FRAXE, Ethnicity, Prevalence, Genetics, Humans, Genetics(clinical), Allele, FRAXA, education, African American, Child, Allele frequency, Genetics (clinical), Alleles, education.field_of_study, business.industry, Genetic Carrier Screening, medicine.disease, Fragile X syndrome, Phenotype, Fragile X Syndrome, Population Surveillance, Premutation, Female, business, Negroid, Demography, Research Article
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المؤلفون: Sallie B. Freeman, Claudine P. Torfs, Katherine Allran, Georgia Karadima, Terry J. Hassold, Michael B. Petersen, Dimitris Avramopoulos, Lisa Taft, Amanda Savage, Margareta Mikkelsen, Dorothy Pettay, Stephanie L. Sherman
المصدر: Human Molecular Genetics. 7:1221-1227
مصطلحات موضوعية: Male, Proband, medicine.risk_factor, Chromosomes, Human, Pair 21, Population, Aneuploidy, Trisomy, Biology, Paternal Age, Genetics, medicine, Humans, Paternal age effect, education, Molecular Biology, Genetics (clinical), Recombination, Genetic, education.field_of_study, Meiosis II, General Medicine, medicine.disease, Nondisjunction, Female, Down Syndrome, Chromosome 21
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::80a5c60e74f7ee80b23ffd4bae8e1bba
https://doi.org/10.1093/hmg/7.8.1221 -
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المؤلفون: Michael B. Petersen, Sallie B. Freeman, Anni Hallberg, Yuanchao Gu, Terry J. Hassold, Stephanie L. Sherman, Denise Saker, Margareta Mikkelsen, Dorothy Pettay, Dimitris Avramopoulos, Kristen M. May, Neil E. Lamb, Joseph J. Shen, Amanda Savage-Austin, Jane Hersey, Lisa Taft
المصدر: Nature Genetics. 14:400-405
مصطلحات موضوعية: Adult, Male, Chromosomes, Human, Pair 21, Aneuploidy, Biology, Genetic recombination, Fetus, Nondisjunction, Genetic, Meiosis, Genetics, medicine, Humans, reproductive and urinary physiology, Recombination, Genetic, Models, Genetic, urogenital system, Meiosis II, Embryo, Mammalian, medicine.disease, Chiasma, Nondisjunction, embryonic structures, Female, Down Syndrome, Trisomy, Chromosome 21, Maternal Age
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::963d6ea12216d371480a196dfd90067a
https://doi.org/10.1038/ng1296-400 -
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المؤلفون: Dorothy Pettay, James L. Newman, Jane Hersey, Kellen L. Meadows, Stephanie L. Sherman, Allison E. Ashley
المصدر: American Journal of Medical Genetics. 64:428-433
مصطلحات موضوعية: Genetics, education.field_of_study, Population, Locus (genetics), Gene mutation, Biology, medicine.disease, Fragile X syndrome, Loss of heterozygosity, Gene mapping, medicine, Allele, Mutation frequency, education, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::4ef54c570f913565c9d4a52c143b5fe9
https://doi.org/10.1002/(sici)1096-8628(19960809)64:2<428::aid-ajmg39>3.0.co;2-f -
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المؤلفون: Sallie B. Freeman, Kristin M. May, Kasinathan Muralidharan, Dorothy Pettay, R. Dwain Blackston
المصدر: American Journal of Medical Genetics. 61:340-344
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Asplenia, Chromosomal translocation, Chromosomal rearrangement, Biology, Gene mutation, medicine.disease, Situs inversus, Gene mapping, medicine, Chromosome 20, Allele, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::31ecf186cad50856abaf174841255a22
https://doi.org/10.1002/(sici)1096-8628(19960202)61:4<340::aid-ajmg7>3.0.co;2-y -
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المؤلفون: Sallie B. Freeman, Margareta Mikkelsen, Merete Frantzen, Stephanie L. Sherman, Terry J. Hassold, Michael B. Petersen, Jane Hersey, Dorothy Pettay, Lisa Taft
المصدر: Human Molecular Genetics. 3:1529-1535
مصطلحات موضوعية: Adult, Mitotic crossover, Chromosomes, Human, Pair 21, Aneuploidy, Biology, Genetic recombination, Meiosis, Pregnancy, Genetics, medicine, Humans, Ectopic recombination, Molecular Biology, Genetics (clinical), Recombination, Genetic, Chromosome Mapping, General Medicine, medicine.disease, Female, Down Syndrome, Chromosome 21, Trisomy, Recombination, Maternal Age
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a149845eda7b4d9843ca01a7d2f6b0a7
https://doi.org/10.1093/hmg/3.9.1529 -
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المصدر: American Journal of Medical Genetics. 45:625-630
مصطلحات موضوعية: Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Isochromosome, Robertsonian translocation, Chromosomal translocation, Biology, medicine.disease_cause, Translocation, Genetic, Chromosome 15, Angelman syndrome, Happy puppet syndrome, medicine, Humans, Genetics (clinical), Genetics, Chromosomes, Human, Pair 15, Homozygote, Cytogenetics, nutritional and metabolic diseases, DNA, medicine.disease, Uniparental disomy, nervous system diseases, Phenotype, Child, Preschool, Angelman Syndrome
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المؤلفون: Patricia A. Jacobs, R. S. James, Katrina H. Ellis, Dorothy Pettay
المصدر: European journal of human genetics : EJHG. 6(3)
مصطلحات موضوعية: Genetics, Male, Offspring, Mosaicism, Biology, medicine.disease, Pedigree, Pregnancy, Karyotyping, medicine, Humans, Female, Allele, Down Syndrome, Trisomy, Chromosome 21, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c7e921f802e5b8d01af3c1bb0cd4abc
https://pubmed.ncbi.nlm.nih.gov/9781024 -
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المؤلفون: Georgia Karadima, Sallie B. Freeman, Anni Hallberg, Yuanchao Gu, Dorothy Pettay, Amanda Savage, Margareta Mikkelsen, Neil E. Lamb, Stephanie L. Sherman, Michael B. Petersen, Terry J. Hassold, Jane Hersey, Eleanor Feingold, Dimitris Avramopoulos, Denise Saker, Lisa Taft, Joseph J. Shen
المصدر: Human molecular genetics. 6(9)
مصطلحات موضوعية: Genetic Markers, Chromosomes, Human, Pair 21, Mitosis, Biology, Prophase, Meiosis, Nondisjunction, Genetic, Centromere, Genetics, Humans, Crossing Over, Genetic, Molecular Biology, Genetics (clinical), urogenital system, Meiosis II, Chromosome, General Medicine, Telomere, Chiasma, Nondisjunction, Female, Down Syndrome, Chromosome 21, Maternal Age
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f79a3be42c8fdb543aa4ebef7b4e194
https://pubmed.ncbi.nlm.nih.gov/9285774 -
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المؤلفون: Terry J. Hassold, Dorothy Pettay, Arthur Robinson, Irene Uchida
المصدر: Human Genetics. 89
مصطلحات موضوعية: Monosomy, X Chromosome, Gonad, Turner Syndrome, Aneuploidy, Biology, Andrology, Pregnancy, Turner syndrome, Genetics, medicine, Humans, Conceptus, Fetal Death, reproductive and urinary physiology, Genetics (clinical), X chromosome, Fetus, Mosaicism, medicine.disease, Abortion, Spontaneous, medicine.anatomical_structure, embryonic structures, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d414b1578019ddd68b7f603f70d6221b
https://doi.org/10.1007/bf00221956