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المؤلفون: Joanna Spaulding, Ann Haskins Olney, Jennifer N. Sanmann, Shelly Nielsen, Marilu Nelson, Angela Beavers, Scott C. Smith
المصدر: American Journal of Medical Genetics Part A. 182:2161-2167
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Optic disc pallor, business.industry, 030105 genetics & heredity, medicine.disease, Corpus callosum, eye diseases, Hypoplasia, 03 medical and health sciences, 030104 developmental biology, Frontal lobe, Dysplasia, Congenital fibrosis of the extraocular muscles, Genetics, medicine, Missense mutation, business, Exotropia, Genetics (clinical)
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2
المؤلفون: Elizabeth Null, Ann Haskins Olney, Andria Powers
المصدر: Genetics in Medicine. 24:S123-S124
مصطلحات موضوعية: Genetics (clinical)
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3Academic Journal
المؤلفون: Benjamin D. Solomon, Felicitas Lacbawan, Ra Mercier, Nancy J. Clegg, Mauricio R, Kenneth Rosenbaum, Christèle Dubourg, Veronique David, Ann Haskins Olney, Amelia Keaton, Joan Z. Balog, Donald Hadley, Nan Zhou, Robert Long, Jorge I, Daniel E. Pineda-alvarez, Sylvie Odent, Erich Roessler, Maximilian Muenke
المساهمون: The Pennsylvania State University CiteSeerX Archives
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.406.5000; http://hal.archives-ouvertes.fr/docs/00/43/96/59/PDF/ZIC2_article_July_19.pdf
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المؤلفون: Clare V, Logan, Jennie E, Murray, David A, Parry, Andrea, Robertson, Roberto, Bellelli, Žygimantė, Tarnauskaitė, Rachel, Challis, Louise, Cleal, Valerie, Borel, Adeline, Fluteau, Javier, Santoyo-Lopez, Tim, Aitman, Inês, Barroso, Donald, Basel, Louise S, Bicknell, Himanshu, Goel, Hao, Hu, Chad, Huff, Michele, Hutchison, Caroline, Joyce, Rachel, Knox, Amy E, Lacroix, Sylvie, Langlois, Shawn, McCandless, Julie, McCarrier, Kay A, Metcalfe, Rose, Morrissey, Nuala, Murphy, Irène, Netchine, Susan M, O'Connell, Ann Haskins, Olney, Nandina, Paria, Jill A, Rosenfeld, Mark, Sherlock, Erin, Syverson, Perrin C, White, Carol, Wise, Yao, Yu, Margaret, Zacharin, Indraneel, Banerjee, Martin, Reijns, Michael B, Bober, Robert K, Semple, Simon J, Boulton, Jonathan J, Rios, Nicola, Williams
المصدر: Logan, C, Murray, J, Parry, D, Robertson, A, Bellelli, R, Tarnauskaite, Z, Challis, R, Cleal, L, Borel, V, Fluteau, A, Santoyo-Lopez, J, SGP Consortium,, Aitman, T, Barroso, I, Basel, D, Bicknell, L, Goel, H, Hu, H, Huff, C, Hutchison, M, Joyce, C, Knox, R, Langlois, S, McCandless, S, McCarrier, J, Morrissey, R, Murphy, N, Netchine, I, O'Connell, S M, Olney, A H, Paria, N, Rosenfeld, J A, Sherlock, M, Syverson, E, White, P, Wise, C, Yu, Y, Zacharin, M, Banerjee, I, Reijns, M, Bober, M B, Semple, R, Boulton, S J, Rios, J J, Jackson, A & Robertson, A 2018, ' DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency ', American Journal of Human Genetics, vol. 103, no. 6, pp. 1038-1044 . https://doi.org/10.1016/j.ajhg.2018.10.024
American Journal of Human Geneticsمصطلحات موضوعية: Adult, DNA Replication, Male, Adolescent, growth, Osteochondrodysplasias, polymerase epsilon, Young Adult, Report, Humans, microcephaly, Child, Poly-ADP-Ribose Binding Proteins, Cyclin-Dependent Kinase Inhibitor p57, Alleles, Fetal Growth Retardation, Infant, DNA Polymerase II, Middle Aged, IMAGe syndrome, Phenotype, Child, Preschool, Urogenital Abnormalities, Mutation, Female, cell cycle, adrenal failure, immunodeficiency, Adrenal Insufficiency
وصف الملف: application/pdf
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5
المؤلفون: Jeffrey W. Delaney, Ann Haskins Olney, Jennifer N. Sanmann, Deborah Perry, Dorothy K. Grange, James M. Hammel, Anji T. Yetman, G. Bradley Schaefer, Lois J. Starr
المصدر: American Journal of Medical Genetics Part A. 167:2893-2901
مصطلحات موضوعية: Male, medicine.medical_specialty, Heart Diseases, Electrocardiography, Young Adult, Pericarditis, Pregnancy, Fibrosis, Intellectual Disability, Ductus arteriosus, Internal medicine, Cryptorchidism, Genetics, medicine, Humans, Pulmonary pathology, Myhre syndrome, Child, Growth Disorders, Genetics (clinical), Smad4 Protein, business.industry, Restrictive cardiomyopathy, Facies, medicine.disease, Transplantation, medicine.anatomical_structure, Mutation, Cardiology, Heart Transplantation, Female, Complication, business, Hand Deformities, Congenital
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المؤلفون: Arend Bökenkamp, Kira Y. Dionis-Petersen, Lan Xiang Liu, Neeraja Kambham, Helen Fryssira, Ayşe İpek Polat, Mattia Gentile, C. Nur Semerci, Tracy E. Hunley, Katarina Mitrovic, Behzad Najafian, Radovan Bogdanovic, Mrinmoy Sanyal, Uluç Yiş, Encarna Guillen-Navarro, Katie Felix, Marie Morimoto, Christy Mayfield, Alireza Baradaran-Heravi, Thomas Lücke, Susan A. Berry, Cornelius F. Boerkoel, David B. Lewis, Kent P. Jensen, Kunho Choi, Lydia Najera, Giuliana Lama, Suparna Dutt, Michel Tsimaratos, Ann Haskins Olney, Benjamin Dekel, Milena Brugnara
المساهمون: Pediatric surgery, ICaR - Circulation and metabolism
المصدر: Clinical Immunology, 161(2), 355-365. Academic Press Inc.
Sanyal, M, Morimoto, M, Baradaran-Heravi, A, Choi, K, Kambham, N, Jensen, K, Dutt, S, Dionis-Petersen, K Y, Liu, L X, Felix, K, Mayfield, C, Dekel, B, Bokenkamp, A, Fryssira, H, Guillen-Navarro, E, Lama, G, Brugnara, M, Lucke, T, Olney, A H, Hunley, T E, Polat, A I, Yis, U, Bogdanovic, R, Mitrovic, K, Berry, S, Najera, L, Najafian, B, Gentile, M, Semerci, C N, Tsimaratos, M, Lewis, D B & Boerkoel, C F 2015, ' Lack of IL7R alpha expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD) ', Clinical Immunology, vol. 161, no. 2, pp. 355-365 . https://doi.org/10.1016/j.clim.2015.10.005مصطلحات موضوعية: Nephrotic Syndrome, SMARCAL1 protein, human, Arteriosclerosis, T-Lymphocytes, interleukin 7 receptor alpha, Gene Expression, Gene mutation, SIOD, preschool child, T-cell immunodeficiency, 0302 clinical medicine, chondrodysplasia, mononuclear cell, T lymphocyte, Immunology and Allergy, genetics, exon, gene mutation, Child, Promoter Regions, Genetic, Immunodeficiency, Cells, Cultured, 0303 health sciences, clinical article, DNA methylation, messenger RNA, Reverse Transcriptase Polymerase Chain Reaction, adult, Interleukin-17, Flow Cytometry, Immunohistochemistry, IL7R?, 3. Good health, Adolescent, Adult, Arteriosclerosis/*genetics/metabolism/pathology, Child, Preschool, DNA Helicases/genetics, DNA Methylation, Humans, Immunologic Deficiency Syndromes/*genetics/metabolism/pathology, Interleukin-17/pharmacology, Leukocytes, Mononuclear/drug effects/metabolism, Mutation, Nephrotic Syndrome/*genetics/metabolism/pathology, Osteochondrodysplasias/*genetics/metabolism/pathology, Primary Immunodeficiency Di, priority journal, young adult, Interleukin 17, schimke immuno osseous dysplasia, T-Cell Immunodeficiency, IL7Rα, lung embolism, Primary Immunodeficiency Diseases, Immunology, interleukin-7 receptor, alpha chain, DNA sequence, DNA helicase, Biology, interleukin 7, Osteochondrodysplasias, Article, Promoter DNA methylation, reverse transcription polymerase chain reaction, 03 medical and health sciences, promoter region, CpG, medicine, controlled study, human, Interleukin-7 receptor, protein expression, 030304 developmental biology, cell culture, Receptors, Interleukin-7, autosomal recessive disorder, human cell, Schimke immuno-osseous dysplasia, DNA Helicases, Immunologic Deficiency Syndromes, Sequence Analysis, DNA, immune deficiency, medicine.disease, school child, human tissue, CD127, Dysplasia, interleukin 7 receptor, drug effects, Leukocytes, Mononuclear, pathology, interleukin 17, Pulmonary Embolism, metabolism, 030217 neurology & neurosurgery
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المؤلفون: Margaret P. Adam, Ann Haskins Olney, Julianne E. Hartmann, Cynthia J. Curry, William B. Dobyns, Robin D. Clark, Eric T. Rush
المصدر: American Journal of Medical Genetics Part A. 161:320-326
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Corneal Diseases, Craniosynostosis, Craniofacial Abnormalities, Hypesthesia, Gomez Lopez Hernandez syndrome, Cerebellum, Genetics, medicine, Humans, Abnormalities, Multiple, Child, Cerebellar hypoplasia, Growth Disorders, Genetics (clinical), business.industry, Neurocutaneous Syndromes, Alopecia, medicine.disease, Hypotonia, Rhombencephalon, Phenotype, Child, Preschool, Agenesis, Cerebellar vermis, Female, medicine.symptom, business, Brachycephaly, Ventriculomegaly
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8
المؤلفون: Vivek Dhir, Omar A. Abdul-Rahman, Nils Krone, Nicole Reisch, Laura G. Hendon, Hannah E Ivison, Rachel Harrison, Shelly Nielsen, Ann Haskins Olney, Beverly A. Hughes, Jan Idkowiak, Cedric H. L. Shackleton, Wiebke Arlt, Edward Blair
المصدر: The Journal of Clinical Endocrinology and Metabolism
The Journal of Clinical Endocrinology & Metabolism; Vol 98مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Compound heterozygosity, Biochemistry, 0302 clinical medicine, Endocrinology, Pregnancy, Prenatal Diagnosis, Mass Screening, 0303 health sciences, JCEM Online: Advances in Genetics, Homozygote, Steroid 17-alpha-Hydroxylase, Virilism, 3. Good health, Phenotype, Pregnancy Trimester, Second, Pregnanediol, Female, Glucocorticoid, medicine.drug, medicine.medical_specialty, Heterozygote, 030209 endocrinology & metabolism, Prenatal diagnosis, Context (language use), Biology, Androsterone, Ultrasonography, Prenatal, 03 medical and health sciences, Predictive Value of Tests, Internal medicine, medicine, Humans, Congenital adrenal hyperplasia, Abnormalities, Multiple, Mass screening, 030304 developmental biology, Gynecology, Fetus, Adrenal Hyperplasia, Congenital, Estriol, Biochemistry (medical), medicine.disease, Radiography, Steroid 21-Hydroxylase
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المؤلفون: Ann Haskins Olney, Catherine Nowak, G. Bradley Schaefer
المصدر: American journal of medical genetics. Part A. 170(7)
مصطلحات موضوعية: World Wide Web, Computer science, Genetics, Medical, Genetics, Portraits as Topic, History, 20th Century, History, 21st Century, Genetics (clinical), United States
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10
المؤلفون: Jeffrey C. Murray, Ecaterina Dragan, Ann Haskins Olney, Vinit B. Mahajan, Ajit Chary, Alexander G. Bassuk, Penny Garrett, Gary Lerner
المصدر: American Journal of Medical Genetics Part A. :2875-2879
مصطلحات موضوعية: Male, Retinal degeneration, DNA Mutational Analysis, Molecular Sequence Data, Malignancy, Article, Exon, Acute lymphocytic leukemia, Genetics, medicine, Collagen Type XVIII, Humans, Family, Eye Abnormalities, Child, Genetics (clinical), Encephalocele, Acute leukemia, Base Sequence, business.industry, Retinal Degeneration, Retinal Detachment, Infant, Knobloch syndrome, Precursor Cell Lymphoblastic Leukemia-Lymphoma, medicine.disease, Magnetic Resonance Imaging, Molecular biology, Pedigree, Child, Preschool, Mutation, Female, Endostatin, business
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المؤلفون: Timothy J. Bradley, Dongchuan Guo, James C. Hyland, Nadia Khan, L. Maximilian Buja, John R. Østergaard, Ellen S. Regalado, Lesley C. Adès, Ann Haskins Olney, Leena Ala-Kokko, Dong H. Kim, Dianna M. Milewicz, Joseph F. Maher, Roberto Mendoza-Londono, Dorothy K. Grange
المصدر: Milewicz, D M, Østergaard, J R, Ala-Kokko, L M, Khan, N, Grange, D K, Mendoza-Londono, R, Bradley, T J, Olney, A H, Adès, L, Maher, J F, Guo, D, Buja, L M, Kim, D, Hyland, J C & Regalado, E S 2010, ' De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction ', American Journal of Medical Genetics. Part A, vol. 152A, no. 10, pp. 2437-43 . https://doi.org/10.1002/ajmg.a.33657
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Adolescent, Mutation, Missense, Article, Muscle, Smooth, Vascular, Mice, Aortic aneurysm, Aneurysm, Dissecting, medicine.artery, Genetics, Animals, Humans, Medicine, Vascular Diseases, Child, Aorta, Genetics (clinical), Actin, Peristalsis, biology, business.industry, Vascular disease, Muscle, Smooth, Anatomy, musculoskeletal system, medicine.disease, Pulmonary hypertension, Actins, Aortic Aneurysm, Aortic Dissection, Cerebrovascular Disorders, Mutation, cardiovascular system, biology.protein, Female, ACTA2, business, Hypoperistalsis
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المؤلفون: Jadd M. Stevens, Warren G. Sanger, Diane L. Pickering, Ann Haskins Olney, Denae M. Golden, James D. Eudy, Bhavana J. Dave
المصدر: Genetics in Medicine. 10:262-266
مصطلحات موضوعية: Chromosome Aberrations, Genetics, Chromosomes, Artificial, Bacterial, medicine.medical_specialty, Bacterial artificial chromosome, medicine.diagnostic_test, Cytogenetics, Nucleic Acid Hybridization, In situ hybridization, Biology, Microarray Analysis, Genome, medicine, Humans, Medical genetics, Abnormalities, Multiple, Algorithms, In Situ Hybridization, Fluorescence, Genetics (clinical), Virtual karyotype, Fluorescence in situ hybridization, Comparative genomic hybridization
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المؤلفون: Jamie Fisher, Cynthia J. Curry, Rebecca Sahraoui, Claudio Sandoval, Ann Haskins Olney, Jessica X. Chong, Deborah L. Stabley, Katia Sol-Church, Lisa Pilchman, Karen W. Gripp
مصطلحات موضوعية: Adult, Male, Ribosomal Proteins, Ribosomopathy, Biology, medicine.disease_cause, Article, symbols.namesake, Genetic Heterogeneity, Young Adult, Pregnancy, Genetics, medicine, Humans, Exome, Family, Diamond–Blackfan anemia, Gene, Genetics (clinical), Anemia, Diamond-Blackfan, Sanger sequencing, Mutation, Genetic heterogeneity, Infant, Newborn, Infant, medicine.disease, Phenotype, Pedigree, Child, Preschool, symbols, Female, Apoptosis Regulatory Proteins, Mandibulofacial Dysostosis
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المؤلفون: Richard E. Lutz, Diane L. Pickering, Ann Haskins Olney, James D. Eudy, Warren G. Sanger, Bhavana J. Dave, Kristal Platt
المصدر: American Journal of Medical Genetics Part A. :1046-1048
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Genetics, Medicine, Deletion syndrome, Congenital disease, business, Genetics (clinical)
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المؤلفون: Ann Haskins Olney, John B. Bodensteiner, G. Bradley Schaefer
المصدر: Seminars in Pediatric Neurology. 6:238-242
مصطلحات موضوعية: Male, Postaxial polydactyly, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pediatrics, Conservative management, Hamartoma, Genetic counseling, Hypothalamus, Nails, Malformed, Hypothalamic hamartoma, medicine, Humans, Intrafamilial variability, Brain Diseases, Polydactyly, business.industry, Infant, Newborn, medicine.disease, Magnetic Resonance Imaging, Surgery, Hypoplastic nails, Child, Preschool, Hypothalamic dysfunction, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business
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المؤلفون: Nathan G. Asher, G. Bradley Schaefer, Ann Haskins Olney
المصدر: Seminars in Pediatric Neurology. 15:221-223
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, business.industry, Infant, Newborn, Brain, Infant, Syndrome, Oculocerebrocutaneous syndrome, medicine.disease, Surgery, Fingers, Terminal (electronics), Pediatrics, Perinatology and Child Health, medicine, Humans, Abnormalities, Multiple, Female, Eye Abnormalities, Neurology (clinical), business
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المؤلفون: Don W. Coulter, Melissa Wandoloski, Lois J. Starr, Ann Haskins Olney, Jennifer N. Sanmann, Warren G. Sanger
المصدر: American journal of medical genetics. Part A. (4)
مصطلحات موضوعية: Oncology, Male, medicine.medical_specialty, Trisomy, Wilms Tumor, Fetal Macrosomia, Chromosome 18, Internal medicine, Gene Duplication, Gene duplication, Genetics, medicine, Humans, Nephroblastomatosis, Genetics (clinical), medicine.diagnostic_test, business.industry, Chromosome, Wilms' tumor, medicine.disease, Abdominal ultrasonography, Child, Preschool, dup, business, Chromosomes, Human, Pair 18, Trisomy 18 Syndrome
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المؤلفون: Giovani Neri, Carol L. Clericuzio, Seongman Kang, Judith G. Hall, Margaret H. Abbott, Kathryn F. Peters, Daniel R. Lefton, Jeffrey C. Allen, Penelope Feuillan, Alain Verloes, Leslie G. Biesecker, John M. Graham, Ann Haskins Olney
المصدر: American Journal of Medical Genetics. 65:76-81
مصطلحات موضوعية: inorganic chemicals, medicine.medical_specialty, business.industry, Gene mutation, equipment and supplies, Research findings, medicine.disease, Bioinformatics, Phenotype, fluids and secretions, Hypothalamic hamartoma, Pallister–Hall syndrome, medicine, Central polydactyly, bacteria, Pituitary dysfunction, Psychiatry, business, Clinical evaluation, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bf1d7fc68f5eda8b12af6705bfc43d89
https://doi.org/10.1002/(sici)1096-8628(19961002)65:1<76::aid-ajmg12>3.0.co;2-o -
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المؤلفون: Jadd M. Stevens, Ann Haskins Olney, Warren G. Sanger, Eric T. Rush
المصدر: American journal of medical genetics. Part A. (7)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Hearing loss, Cleft Lip, Developmental Disabilities, Biology, Hyperreflexia, Genetics, medicine, Humans, Child, Hearing Loss, Genetics (clinical), Chromosomal Deletion, In Situ Hybridization, Fluorescence, Growth retardation, Breakpoint, Karyotype, Syndrome, Phenotype, Cleft Palate, Bilateral cleft lip, Karyotyping, Female, medicine.symptom, Chromosome Deletion, Chromosomes, Human, Pair 7
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المؤلفون: Kristi Dehaai, Rosanna Weksberg, Mitra Basiratnia, Yutong Xue, Mary Shago, Anja Raams, Alireza Baradaran-Heravi, Joanna M. Lubieniecka, Pierre-Olivier Mari, Nicolaas G. J. Jaspers, Cornelius F. Boerkoel, Kunho Choi, Michael Rauth, Weidong Wang, Ann Haskins Olney, Kyoung Sang Cho, Małgorzata J.M. Nowaczyk
المصدر: American journal of medical genetics. Part A. (9)
مصطلحات موضوعية: DNA End-Joining Repair, DNA Repair, Biology, Article, Cell Line, Mice, Antineoplastic Combined Chemotherapy Protocols, Genetics, medicine, In Situ Nick-End Labeling, Animals, Humans, Genetics (clinical), Etoposide, Lymphoma, Non-Hodgkin, Schimke immuno-osseous dysplasia, DNA Helicases, medicine.disease, Phenotype, Lymphoma, Non-homologous end joining, Dysplasia, Immunology, Cancer research, Osteosarcoma, Nucleotide excision repair, medicine.drug