المؤلفون: Sandy Ayoub, Cecilia Giunta, Tomoki Kosho, Glenda Sobey, Neeti Ghali, Duncan Baker, Stella Baffini, Fleur S van Dijk, Katherine Neas, Anthony Vandersteen, Frank Rutsch, Gloria Scarselli, Diana Johnson, Chloe Angwin, Angela F. Brady, Maria Luisa Giovannucci Uzielli, F. Michael Pope

المساهمون: University of Zurich, van Dijk, Fleur S

المصدر: American Journal of Medical Genetics Part A. 182:994-1007

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Joint hypermobility, 2716 Genetics (clinical), Pediatrics, medicine.medical_specialty, Connective Tissue Disorder, Adolescent, Hip Dislocations, 610 Medicine & health, 030105 genetics & heredity, Collagen Type I, Young Adult, 03 medical and health sciences, 1311 Genetics, Genetics, Humans, Medicine, Genetic Predisposition to Disease, Lack of knowledge, Child, Hip Dislocation, Congenital, Genetics (clinical), Hip surgery, business.industry, Exons, Middle Aged, medicine.disease, Pedigree, Collagen Type I, alpha 1 Chain, Phenotype, 030104 developmental biology, 10036 Medical Clinic, Ehlers–Danlos syndrome, Child, Preschool, Mutation, Cohort, Skin Abnormalities, Ehlers-Danlos Syndrome, Female, Abnormality, business

وصف الملف: aEDS_2020_ajmg.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503a50661c23292f1207cd6954fcfd14Test
https://doi.org/10.1002/ajmg.a.61523Test

المؤلفون: Mingfu Ling, Gillian Mceachern, Agnieszka Seyda, Nevi Mackay, Stephen W. Scherer, Sacha Bratinova, Barbara Beatty, Maria Luisa Giovannucci-uzielli, Brian H. Robinson

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://hmg.oxfordjournals.org/content/7/3/501.full.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.521.7193Test; http://hmg.oxfordjournals.org/content/7/3/501.full.pdfTest

الإتاحة: http://hmg.oxfordjournals.org/content/7/3/501.full.pdfTest

المؤلفون: Lilia Maria de Azevedo Moreira, Joris A. Veltman, Anne Destree, Ercan Mihci, Banu Güzel Nur, Charles Marques Lourenço, Eva Rossier, Simon E. Fisher, Julie S. Cohen, Julie Hoover-Fong, Viviane Borges Ferreira, Mariana Aracena, Aida Telegrafi, Kátia Maria da Rocha, Alexander Hoischen, Julie McGaughran, Hülya Kayserili, Anthony Vandersteen, Lindsday A. Lambie, Bert B.A. de Vries, Sarah A. Graham, Heiko Reutter, Alessandra Baumer, Pelagia Deriziotis, Andreas Dufke, Maria Luisa Giovannucci Uzielli, Robert Smigiel, Theresa A. Grebe, Albert Schinzel, Christian Gilissen, Bregje W.M. van Bon, Careni Spencer, Marloes Steehouwer, Martin Smitka, Alice S. Brooks, Umut Altunoglu, Elisabetta Lapi, Charu Deshpande, Aleksandra Jezela-Stanek, Dafne Dain Gandelman Horovitz, Nataliya Di Donato, Ali Fatemi, Gwenaelle Andre, Lude Franke, Rocio Acuna-Hidalgo, Sipko van Dam

المساهمون: Clinical Genetics, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Acuna-Hidalgo, Rocio, Deriziotis, Pelagia, Steehouwer, Marloes, Gilissen, Christian, Graham, Sarah, Dam, Sipko van, Hoover-Fong, Julie, Telegrafi, Aida, Destree, Anne, Smigiel, Robert, Lambie, Lindsday, Altunoglu, Umut, Lapi, Elisabetta, Uzielli, Maria Luisa, Aracena, Mariana, Nur, Banu G., Mihci, Ercan, Moreira, Lilia M. A., Borges Ferreira, Viviane, Horovitz, Dafne D. G., Rocha, Katia M. da, Jezela-Stanek, Aleksandra, Brooks, Alice S., Reutter, Heiko, Cohen, Julie S., Fatemi, Ali, Smitka, Martin, Grebe, Theresa A., Donato, Nataliya Di, Deshpande, Charu, Vandersteen, Anthony, Lourenço, Charles Marques, Dufke, Andreas, Rossier, Eva, Andre, Gwenaelle, Baumer, Alessandra, Spencer, Careni, McGaughran, Julie, Franke, Lude, Veltman, Joris A., Vries, Bert B. A. de, Schinzel, Albert, Fisher, Simon E., Hoischen, Alexander, Bon, Bregje W. van, School of Medicine, Department of Genetics, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Stem Cell Aging Leukemia and Lymphoma (SALL)

المصدر: PLoS Genetics
PLoS Genetics (online), 13(3):e1006683. Public Library of Science
PLoS genetics, 13(3). PUBLIC LIBRARY SCIENCE
Plos Genetics, 13, e1006683-e1006683
Plos Genetics, 13, 3, pp. e1006683-e1006683
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
PLOS Genetics

مصطلحات موضوعية: 0301 basic medicine, Male, Cancer Research, Somatic cell, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Gene Identification and Analysis, Gene Expression, medicine.disease_cause, Biochemistry, Germline, Hematologic Cancers and Related Disorders, Craniofacial Abnormalities, Exon, Database and Informatics Methods, Animal Cells, Medicine and Health Sciences, Nuclear protein, Child, Genetics (clinical), ATYPICAL CML, MYELODYSPLASTIC SYNDROME, Connective Tissue Cells, Genetics, Medicine, Nuclear Proteins, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], CLONAL HEMATOPOIESIS, Hematology, CHRONIC NEUTROPHILIC LEUKEMIA, Germline Mutation, Phenotype, 3. Good health, Cell Transformation, Neoplastic, Oncology, Connective Tissue, Child, Preschool, Hematologic Neoplasms, Female, Cellular Types, Anatomy, Neurodevelopmental disorders Radboud Institute for Molecular Life Sciences [Radboudumc 7], Hand Deformities, Congenital, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Research Article, Neuroinformatics, lcsh:QH426-470, Blotting, Western, Nails, Malformed, Protein degradation, Biology, Research and Analysis Methods, Cell Line, PROGRESSIVE BRAIN ATROPHY, 03 medical and health sciences, Germline mutation, Intellectual Disability, Leukemias, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC MYELOID-LEUKEMIA, Protein Interactions, Molecular Biology, Mutation Detection, Ecology, Evolution, Behavior and Systematics, Genetic Association Studies, Germ-Line Mutation, Cell Proliferation, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], CHILDHOOD-CANCER, Gene Expression Profiling, DISEASE PROGRESSION, Infant, Newborn, Biology and Life Sciences, Cancers and Neoplasms, Proteins, Infant, CSF3R T618I, Cell Biology, Fibroblasts, Chronic neutrophilic leukemia, Chronic myeloid-leukemia, Juvenile myelomonocytic leukemia, Progressive brain atrophy, Myelodysplastic syndrome, Clonal hematopoiesis, Disease progression, Childhood-cancer, Atypical cml, Csf3r T618i, lcsh:Genetics, 030104 developmental biology, Biological Tissue, Biological Databases, HEK293 Cells, Mutation, Mutation Databases, Cancer research, Somatic Mutation, Carcinogenesis, Carrier Proteins

وصف الملف: application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e06cd71c14234bbd4c39a6af8c3d1ffTest
http://europepmc.org/articles/PMC5386295Test

المؤلفون: Felecia E. Cerrato, Jeanne Amiel, Matthew S. Edwards, Deborah A. Nickerson, Anita E. Beck, Michael Field, Kathryn M. Shively, Holly K. Tabor, Brian I. Labow, Joshua D. Smith, Jay Shendure, Ana Beatriz Alvarez Perez, Michael J. Bamshad, Martine Le Merrer, Jose A.R. Fortes, Nara Sobreira, Ghislaine Plessis, Maria Luisa Giovannucci Uzielli, Emily H. Turner, Alexander G. Marneros, Christopher T. Gordon, AK Lampe, Margaret J. McMillin, Ernst J Reichenberger

المصدر: The American Journal of Human Genetics. 92:621-626

مصطلحات موضوعية: Male, Ectodermal dysplasia, Molecular Sequence Data, Mutation, Missense, Biology, medicine.disease_cause, Ectodermal Dysplasia, Report, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Exome, Genetics(clinical), Amino Acid Sequence, Ear, External, Genetics (clinical), Exome sequencing, Branchio-oto-renal syndrome, Hypospadias, Mutation, Scalp, Sequence Homology, Amino Acid, medicine.disease, Pedigree, Protein Structure, Tertiary, Repressor Proteins, Phenotype, Nipples, Muscle Hypotonia, Female, Scalp–ear–nipple syndrome, Co-Repressor Proteins, Branchio-oculo-facial syndrome, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::646b67f8a4280012265fdf3426701f08Test
https://doi.org/10.1016/j.ajhg.2013.03.002Test

المؤلفون: Patrizia Mongelli, Gioacchino Scarano, Eleonora Gambineri, Maria Luisa Giovannucci Uzielli, Marco Seri, Gloria Scarselli, Pamela Magini, Matteo Della Monica

المساهمون: Magini P, Monica MD, Uzielli ML, Mongelli P, Scarselli G, Gambineri E, Scarano G, Seri M.

المصدر: American Journal of Medical Genetics Part A. :917-921

مصطلحات موضوعية: Male, Bohring-Opitz syndrome, Biology, Craniosynostoses, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, MULTIPLE MALFORMATIONS, Child, Frameshift Mutation, Gene, Genetics (clinical), ASXL1 gene, Infant, medicine.disease, Phenotype, Repressor Proteins, Severe intellectual disabilities, Codon, Nonsense, Failure to thrive, Female, medicine.symptom, Bohring–Opitz syndrome

وصف الملف: STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93986c0c05b3f7adbd0e32e3c727bcc2Test
https://doi.org/10.1002/ajmg.a.35265Test

المؤلفون: Manuela Priolo, Audrey Basinko, Marc De Braekeleer, Giuseppina Timpani, Gloria Scarselli, Maria Luisa Giovannucci Uzielli

المصدر: European Journal of Medical Genetics. 55:112-116

مصطلحات موضوعية: Heart Defects, Congenital, Genetics, Candidate gene, Bacterial artificial chromosome, Microcephaly, Heart malformation, Ring chromosome, Breakpoint, Chromosome, General Medicine, Biology, Vascular Endothelial Growth Factor Receptor-3, medicine.disease, Face, Cytogenetic Analysis, medicine, Chromosomes, Human, Pair 5, Humans, Abnormalities, Multiple, Ring Chromosomes, Hypertelorism, medicine.symptom, Child, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93885c4c7126404b9cd087c4a902e4feTest
https://doi.org/10.1016/j.ejmg.2011.11.005Test

المؤلفون: Franscesca Forzano, Raoul C.M. Hennekam, Edward Blair, Alison H. Trainer, Sylvie Manouvrier, Kalle O.J. Simola, Flemming Skovby, Ethylin Wang Jabs, Hugo Vega, Rhonda E. Schnur, Moritz Meins, Hülya Kayserili, Jane A. Hurst, Maria Luisa Giovannucci Uzielli, Moira Crosier, Miriam Gordillo, Annick Raas-Rothschild

المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatrics, Faculteit der Geneeskunde

المصدر: Journal of medical genetics, 47(1), 30-37. BMJ Publishing Group
Journal of Medical Genetics, 47(1), 30-37. BMJ Publishing Group

مصطلحات موضوعية: Male, Microcephaly, Chromosomal Proteins, Non-Histone, Developmental Disabilities, Mutation, Missense, Gene Expression, Phocomelia, Biology, medicine.disease_cause, Frameshift mutation, ESCO2, Craniofacial Abnormalities, 03 medical and health sciences, 0302 clinical medicine, Acetyltransferases, Intellectual Disability, Genetics, medicine, Missense mutation, Humans, Abnormalities, Multiple, Roberts syndrome, Codon, Genetics (clinical), 030304 developmental biology, Sequence Deletion, 0303 health sciences, Mutation, Genetic Variation, Infant, Syndrome, medicine.disease, Phenotype, Protein Structure, Tertiary, Female, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f84782ecb20649437fd6134b0f58f7bTest
https://doi.org/10.1136/jmg.2009.068395Test

المؤلفون: Arnold Munnich, Fabien Guimiot, H. Plauchu, Maria-Luisa Giovannucci-Uzielli, Patrick Edery, Anee-Lise Delezoide, Luitgard Graul-Neumann, Massimiliano Rossi, Carl-Joachim Partsch, Valérie Malan, Judith Melki, Pierre Chatelain, Thomas Edouard, Kate Gibson, Robin D. Clark, Martin Zenker, Helen Stewart, Johana-Maria van Hagen, Liselot P. van Hest, Gabriele Gillessen-Kaesbach, Clarisse Baumann, Martine Le Merrer, Helen Cox, Anna Rajab, Carol Chu, Elisabeth Steichen-Gersdorf, Valérie Cormier-Daire, Céline Huber, Dominique Bonneau, Daniela Bezerra Da Silva, Virginia Fano, Sheila Unger, Dafne Horovitz, David Sillence

المساهمون: Human genetics, Other Research

المصدر: European Journal of Human Genetics, 17(3), 395-400. Nature Publishing Group
Huber, C, Delezoide, A L, Guimiot, F, Baumann, C, Malan, V, Le Merrer, M, Da Silva, D B, Bonneau, D, Chatelain, P, Chu, C, Clark, R, Cox, H, Edery, P, Edouard, T, Fano, V, Gibson, K, Gillessen-Kaesbach, G, Giovannucci-Uzielli, M L, Graul-Neumann, L M, van Hagen, J M, van Hest, L P, Horovitz, D, Melki, J, Partsch, C J, Plauchu, H, Rajab, A, Rossi, M, Sillence, D, Steichen-Gersdorf, E, Stewart, H, Unger, S, Zenker, M, Munnich, A & Cormier-Daire, V 2009, ' A large-scale mutation search reveals genetic heterogeneity in 3M syndrome ', European Journal of Human Genetics, vol. 17, no. 3, pp. 395-400 . https://doi.org/10.1038/ejhg.2008.200Test

مصطلحات موضوعية: Male, Short Report, Genes, Recessive, Locus (genetics), Consanguinity, Biology, Genetic Heterogeneity, Fetus, Genetics, medicine, Humans, Abnormalities, Multiple, Family, Child, Gene, Genetics (clinical), Isodisomy, Genetic diversity, Fetal Growth Retardation, Genetic heterogeneity, Postnatal growth retardation, Syndrome, Cullin Proteins, medicine.disease, Radiography, Child, Preschool, Mutation, 3-M syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28f72c0d8466e69126e3bfed3398a3c8Test
https://doi.org/10.1038/ejhg.2008.200Test

المؤلفون: Angelo Selicorni, Anna Maria Pinto, Maria Luisa Giovannucci-Uzielli, Romano Tenconi, Cristina Gervasini, Francesca Faravelli, Lidia Larizza, Angela Bentivegna, Alice Pessagno, Emanuela Lucci-Cordisco, Paola Castronovo, Federica Mottadelli, Leonardo Salviati, Giovanni Neri

المساهمون: Gervasini, C, Castronovo, P, Bentivegna, A, Mottadelli, F, Faravelli, F, Giovannucci Uzielli, M, Pessagno, A, Lucci Cordisco, E, Pinto, A, Salviati, L, Selicorni, A, Tenconi, R, Neri, G, Larizza, L

المصدر: Genomics. 90(5):567-573

مصطلحات موضوعية: Adult, Rubinstein–Taybi syndrome, MED/03 - GENETICA MEDICA, DELETIONS RUBINSTEIN-TAYBI SYNDROME, Biology, Settore MED/03 - GENETICA MEDICA, Genome, Germline, 03 medical and health sciences, Exon, medicine, Genetics, Humans, EP300, Gene, Sequence Deletion, 030304 developmental biology, Rubinstein-Taybi Syndrome, Breakpoint mapping, 0303 health sciences, Mosaicism, 030305 genetics & heredity, Breakpoint, Infant, Newborn, Chromosome Mapping, medicine.disease, CREB-Binding Protein, Germ Cells, CREBBP deletion, Microsatellite, Microdeletion, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf6c8cedc541211bb1b584af39d4295eTest

المؤلفون: Cathy A. Stevens, Anita E. Beck, Nicola Foulds, Jessica X. Chong, Deborah A. Nickerson, Kati J. Buckingham, Arnaud Monteil, Małgorzata J.M. Nowaczyk, John C. Carey, Naomi T. Nkinsi, Angela E. Scheuerle, Jolien S. Klein Wassink-Ruiter, Philippe Lory, Margaret J. McMillin, Maureen Bocian, Paige Kaplan, Michael J. Bamshad, Maria Luisa Giovannucci Uzielli, Evan A. Boyle, Colby T. Marvin, Elizabeth McPherson, Jay Shendure, Chad R. Haldeman-Englert, Catherine Mercer, Kathryn M. Shively, Holly K. Tabor, Regina A. Moreno, Jose R. Armenteros, Joshua D. Smith, Raoul C.M. Hennekam, Vandana Shashi, Margaret N. Berry, Antonie D. Kline

مصطلحات موضوعية: Genetics, Proband, 0303 health sciences, Mutation, Biology, medicine.disease_cause, Phenotype, Hypotonia, 03 medical and health sciences, 0302 clinical medicine, medicine, Missense mutation, Congenital contracture, Global developmental delay, medicine.symptom, 030217 neurology & neurosurgery, Exome sequencing, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6c00775b1e3df4f1f97cbead54fcb6bTest
https://doi.org/10.1101/013656Test