نتائج البحث - "Lynette S. Penney"

المساهمون: Dyment, David A., O'Donnell-Luria, Anne, Agrawal, Pankaj B., Coban Akdemir, Zeynep, Aleck, Kyrieckos A., Antaki, Danny, Al Sharhan, Hind, Au, Ping-Yee B., Aydin, Hatip, Beggs, Alan H., Bilguvar, Kaya, Boerwinkle, Eric, Brand, Harrison, Brownstein, Catherine A., Buyske, Steve, Chodirker, Bernard, Choi, Jungmin, Chudley, Albert E., Clericuzio, Carol L., Cox, Gerald F., Curry, Cynthia, de Boer, Elke, de Vries, Bert B. A., Dunn, Kathryn, Dutmer, Cullen M., England, Eleina M., Fahrner, Jill A., Geckinli, Bilgen B., Genetti, Casie A., Gezdirici, Alper, Gibson, William T., Gleeson, Joseph G., Greenberg, Cheryl R., Hall, April, Hamosh, Ada, Hartley, Taila, Jhangiani, Shalini N., Karaca, Ender, Kernohan, Kristin, Lauzon, Julie L., Lewis, M. E. Suzanne, Lowry, R. Brian, Lopez-Giraldez, Francesc, Matise, Tara C., McEvoy-Venneri, Jennifer, McInnes, Brenda, Mhanni, Aziz, Garcia Minaur, Sixto, Moilanen, Jukka, Nguyen, An, Nowaczyk, Malgorzata J. M., Posey, Jennifer E., Ounap, Katrin, Pehlivan, Davut, Pajusalu, Sander, Penney, Lynette S., Poterba, Timothy, Prontera, Paolo, Doriqui, Maria Juliana Rodovalho, Sawyer, Sarah L., Sobreira, Nara, Stanley, Valentina, Torun, Deniz, Wargowski, David, Witmer, P. Dane, Wong, Isaac, Xing, Jinchuan, Zaki, Maha S., Zhang, Yeting, Boycott, Kym M., Bamshad, Michael J., Nickerson, Deborah A., Blue, Elizabeth E., Innes, A. Micheil

المصدر: Am J Med Genet A

مصطلحات موضوعية: 0301 basic medicine, Male, ANOMALIES, INTELLECTUAL DISABILITY, Eczema, 030105 genetics & heredity, PHENOTYPE, genetic heterogeneity, Locus heterogeneity, Dubowitz syndrome, Exome, Child, Genetics (clinical), Exome sequencing, Growth Disorders, Genetics, FRAMESHIFT, Genomics, 3. Good health, VPS13B, genome sequencing, LOSS-OF-FUNCTION, Child, Preschool, symbols, Microcephaly, Female, microarray, Adolescent, DNA Copy Number Variations, Biology, NSUN2, PATIENT, DNA sequencing, Histone Deacetylases, Article, 03 medical and health sciences, symbols.namesake, medicine, Humans, Genetic Predisposition to Disease, ANEMIA, Genetic heterogeneity, Genome, Human, MUTATIONS, Facies, Infant, PLATFORM, medicine.disease, Repressor Proteins, 030104 developmental biology, Mendelian inheritance, exome sequencing

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d9fcc3e2207989ee26f7c3b468b59dTest
https://hdl.handle.net/11424/243257Test

6

A family segregating lethal neonatal coenzyme Q(10) deficiency caused by mutations in COQ9

المؤلفون: Jeremy Schwartzentruber, Chandree L. Beaulieu, Karina Horsting-Wethly, Erika Aberg, Dennis E. Bulman, Yoko Ito, Lynette S. Penney, Kym M. Boycott, Jacek Majewski, Afsana Ahmed, Diana Vermunt-de Koning, Richard J. Rodenburg, Amanda C. Smith

المصدر: Journal of Inherited Metabolic Disease, 41, 719-729
Journal of Inherited Metabolic Disease, 41, 4, pp. 719-729

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02bc97b12e43b6ba6dccbef5ce1b307cTest
https://hdl.handle.net/2066/194264Test

7

Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium

المصدر: American Journal of Gastroenterology. 111:275-284

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Pathology, Lymphoma, 0302 clinical medicine, Intestine, Small, Prospective Studies, Child, Melanoma, health care economics and organizations, Mismatch Repair Endonuclease PMS2, Adenosine Triphosphatases, Leukemia, Brain Neoplasms, Gastroenterology, Nuclear Proteins, Glioma, Kidney Neoplasms, DNA-Binding Proteins, Phenotype, Child, Preschool, 030220 oncology & carcinogenesis, MISMATCH REPAIR DEFICIENCY, Female, Colorectal Neoplasms, MutL Protein Homolog 1, Adenoma, Adult, medicine.medical_specialty, Adolescent, education, Adenocarcinoma, Wilms Tumor, Young Adult, 03 medical and health sciences, Germline mutation, Neoplastic Syndromes, Hereditary, Intestinal Neoplasms, medicine, Humans, Alleles, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Retrospective Studies, Hepatology, business.industry, Wilms' tumor, medicine.disease, DNA Repair Enzymes, 030104 developmental biology, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87aab68ccc2dc50311346ccb56632a05Test
https://doi.org/10.1038/ajg.2015.392Test

8

TIMELY ACCESS TO GENETIC COUNSELING FOR WOMEN WITH EPITHELIAL OVARIAN CANCER IN NOVA SCOTIA

المؤلفون: Katharina Kieser, Lynette S. Penney, Lauren Currie, Meghan Ferguson, Ashley Warias, Erin Chamberlain, Kara Matheson, Nicole Snow

المصدر: Journal of Obstetrics and Gynaecology Canada. 41:736-737

مصطلحات موضوعية: Nova scotia, medicine.medical_specialty, medicine.diagnostic_test, Referral, business.industry, Genetic counseling, Obstetrics and Gynecology, Clinical pathway, Family medicine, Cohort, medicine, Medical genetics, Epithelial ovarian cancer, business, Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::065c9e9f777129201140021bf2541843Test
https://doi.org/10.1016/j.jogc.2019.02.245Test

9

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

المؤلفون: Ghayda M. Mirzaa, Bertrand Isidor, Tiziana Filippi, Lynette S. Penney, Giovanni Mazzotta, Emilio Donti, Dawn L. Earl, Bianca Maas, Laura Bernardini, Mari Tokita, Cédric Le Caignec, Agatino Battaglia, Nicola Dikow, Penny M Chow, Paolo Prontera

المصدر: European Journal of Human Genetics. 23:761-765

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::567f7260664f0e814f5fed75bf571a4fTest
https://doi.org/10.1038/ejhg.2014.202Test

10

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

المؤلفون: María Concepción Gil-Rodríguez, Angela E. Scheuerle, Kathleen A. Leppig, Hane Lee, Miguel Del Campo, Peter Diakumis, Katsuhiko Shirahige, Encarna Guillén-Navarro, Juliane Eckhold, Sally Ann Lynch, Holly Dubbs, A. Micheil Innes, Joe Ann S. Moser, Sulagna C. Saitta, Naohito Nozaki, Fabiola Quintero-Rivera, Helger G. Yntema, Antonie D. Kline, Antonio Perez-Aytes, Dinah Clark, Patrick Willems, Lynette S. Penney, Bryan D. Hall, David A. Dyment, Samuel P. Strom, Matthew A. Deardorff, Maninder Kaur, Kathleen A. Williamson, Diana Braunholz, Ieva Micule, Jennifer M. Hunter, Jose Ferreira, Laird G. Jackson, Sarah Ernst, Paldeep S. Atwal, Raoul C.M. Hennekam, Shane McKee, Sarju G. Mehta, David R. FitzPatrick, Sarah E. Noon, David J. Amor, Yolanda Gyftodimou, David W. Christianson, Louanne Hudgins, Christopher T. Fincher, Melanie Hullings, Inga Vater, Victoria Mok Siu, Feliciano J. Ramos, Michael B. Petersen, Christophe Decroos, Antonio Musio, Morad Ansari, Elizabeth Roeder, Nicole Revencu, Heidi Thiese, Shehla Mohammed, Beatriz Puisac, Louise C. Wilson, John Pappas, Lauren J. Francey, Zita Krumina, Zornitza Stark, Karen L. Schindeler, Juan Pié, Ellen Moran, Jolanta Wierzba, Nataliya Di Donato, Hakon Hakonarson, Frank J. Kaiser, Gabriele Gillessen-Kaesbach, Geert Mortier, Han G. Brunner, Linda Mannini, Melanie Bahlo, Jonathan J. Wilde, Masashige Bando, Jacquelyn J. Bradley, Mark B. Mallozzi, Ulrike Gehlken, Christine M. Bowman, Luis Nunes, Ian D. Krantz

المساهمون: Amsterdam Neuroscience, Amsterdam Public Health, Human Genetics, UCL - SSS/IREC - Institut de recherche expérimentale et clinique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de malformations vasculaires congénitales, CareRare Canada Consortium, University of Washington Center for Mendelian Genomics

المصدر: Kaiser, F J, Ansari, M, Braunholz, D, Concepción Gil-Rodríguez, M, Decroos, C, Wilde, J J, Fincher, C T, Kaur, M, Bando, M, Amor, D J, Atwal, P S, Bahlo, M, Bowman, C M, Bradley, J J, Brunner, H G, Clark, D, Del Campo, M, Di Donato, N, Diakumis, P, Dubbs, H, Dyment, D A, Eckhold, J, Ernst, S, Ferreira, J C, Francey, L J, Gehlken, U, Guillén-Navarro, E, Gyftodimou, Y, Hall, B D, Hennekam, R, Hudgins, L, Hullings, M, Hunter, J M, Yntema, H, Innes, A M, Kline, A D, Krumina, Z, Lee, H, Leppig, K, Lynch, S A, Mallozzi, M B, Mannini, L, McKee, S, Mehta, S G, Micule, I, Mohammed, S, Moran, E, Mortier, G R, Moser, J-A S, Petersen, M B & Care4Rare Canada Consortium 2014, ' Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance ', Human Molecular Genetics, vol. 23, no. 11, pp. 2888-2900 . https://doi.org/10.1093/hmg/ddu002Test
Human molecular genetics, 23(11), 2888-2900. Oxford University Press
Human molecular genetics, vol 23, iss 11
Human Molecular Genetics, 23, 11, pp. 2888-900
Human Molecular Genetics, 23, 2888-900
HUMAN MOLECULAR GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Human Molecular Genetics, Vol. 23, no. 11, p. 2888-2900 (2014)
Human molecular genetics

مصطلحات موضوعية: Male, Care4Rare Canada Consortium, medicine.disease_cause, Bioinformatics, Medical and Health Sciences, Cohort Studies, Congenital, Genes, X-Linked, De Lange Syndrome, 2.1 Biological and endogenous factors, Missense mutation, Eye Abnormalities, Aetiology, Hypertelorism, Child, Genetics (clinical), X-linked recessive inheritance, Pediatric, Genetics & Heredity, Genetics, screening and diagnosis, Mutation, Genetic disorder, Articles, General Medicine, Biological Sciences, Chemistry, Detection, Phenotype, Child, Preschool, Female, medicine.symptom, Cornelia de Lange Syndrome, Cohesin complex, Intellectual and Developmental Disabilities (IDD), Molecular Sequence Data, Cranial Fontanelles, Mutation, Missense, Biology, Histone Deacetylases, Rare Diseases, medicine, Humans, Amino Acid Sequence, Dental/Oral and Craniofacial Disease, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], University of Washington Center for Mendelian Genomics, Preschool, Molecular Biology, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Infant, NIPBL, X-Linked, medicine.disease, Brain Disorders, 4.1 Discovery and preclinical testing of markers and technologies, Repressor Proteins, Genes, Human medicine, Missense, Sequence Alignment

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d5b1ff2bb16729d8da56fa773419cfeTest
https://doi.org/10.1093/hmg/ddu002Test

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