المؤلفون: John M. Graham, Anna Ardissone, Dieter Kotzot, Paul R. Mark, Anna Zachariou, Guillermo Lay-Son, Allyn McConkie-Rosell, John Pappas, Karen Low, Fiona Stewart, Chey Loveday, Brian G. Skotko, Melissa Lees, Helen Stewart, Ho Ming Luk, Cheryl Cytrynbaum, Rachel Horton, Siddharth Banka, Gerard Marion, Deborah J. Shears, Marie T. McDonald, Ricardo A. Verdugo, Christine Coubes, Yuri A. Zarate, Christophe Phillipe, Katrina Tatton-Brown, Clare Allen, Deepika D.Cunha Burkardt, Rosanna Weksberg, I. Karen Temple, Alexia Bourgois, David J. Amor, Frédéric Tran Mau-Them, Laurence Faivre

المساهمون: Case Western Reserve University [Cleveland], The institute of cancer research [London], University College London Hospitals (UCLH), Murdoch Children's Research Institute (MCRI), University of Melbourne, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', University of Manchester [Manchester], Manchester University NHS Foundation Trust (MFT), Service de Génétique [CHU Caen], CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Université de Caen Normandie (UNICAEN), Normandie Université (NU), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), The Hospital for sick children [Toronto] (SickKids), Hôpital d'Enfants [CHU Dijon], Hôpital du Bocage, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Biologie, génétique et thérapies ostéoarticulaires et respiratoires (BIOTARGEN), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU), University Hospital Southampton NHS Foundation Trust, Paracelsus Medizinische Privatuniversität = Paracelsus Medical University (PMU), Pontificia Universidad Católica de Chile (UC), Great Ormond Street Hospital for Children [London] (GOSH), University Hospitals Bristol, Department of Health Clinical Genetic Service Centre, Spectrum Health [Grand Rapids], Department of Molecular Genetics and Microbiology [Durham] (MGM), Duke University [Durham], New York University School of Medicine (NYU), New York University School of Medicine, NYU System (NYU)-NYU System (NYU), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Department of Clinical Genetics [Churchill Hospital], Churchill Hospital Oxford Centre for Haematology, Harvard Medical School [Boston] (HMS), Belfast City Hospital, Oxford University Hospitals NHS Trust, University of Oxford [Oxford], University of Southampton, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Universitad de Chile, Arkansas Children's Hospital, Cedars-Sinai Medical Center, St George’s University Hospitals, Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2019, 179 (10), pp.2049-2055. ⟨10.1002/ajmg.a.61321⟩
Burkardt, D DC, Zachariou, A, Loveday, C, Allen, C L, Amor, D J, Ardissone, A, Banka, S, Bourgois, A, Coubes, C, Cytrynbaum, C, Faivre, L, Marion, G, Horton, R, Kotzot, D, Lay-Son, G, Lees, M, Low, K, Luk, H-M, Mark, P, McConkie-Rosell, A, McDonald, M, Pappas, J, Phillipe, C, Shears, D, Skotko, B, Stewart, F, Temple, I K, Mau-Them, F T, Verdugo, R A, Weksberg, R, Zarate, Y A, Graham, J M & Tatton-Brown, K 2019, ' HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt : A study to clarify the HIST1H1E syndrome phenotype in 30 individuals ', American Journal of Medical Genetics. Part A, vol. 179, no. 10, pp. 2049-2055 . https://doi.org/10.1002/ajmg.a.61321Test

مصطلحات موضوعية: Heterozygote, Bioinformatics, Corpus callosum, Rahman syndrome, Histones, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, HIST1H1E, Gene cluster, Intellectual disability, Genetics, Humans, Learning, Medicine, Epigenetics, Genetics (clinical), 030304 developmental biology, Behavior, [SDV.GEN]Life Sciences [q-bio]/Genetics, 0303 health sciences, epigenetic regulator gene, biology, business.industry, Facies, Heterozygote advantage, Syndrome, medicine.disease, Phenotype, Histone, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, intellectual disability, Mutation, biology.protein, Growth and Development, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf; text; image; spreadsheet; application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44aa7fc4767f166673682003bbd5ca23Test
https://doi.org/10.1002/ajmg.a.61321Test

المؤلفون: Naama Yosha-Orpaz, Tally Lerman-Sagie, Keren Yosovich, Miri Yanoov-Sharav, Dvora Kidron, Hila Gur, R. Birnbaum, Gustavo Malinger, Dorit Lev

المصدر: American Journal of Medical Genetics Part A. 179:78-84

مصطلحات موضوعية: Male, 0301 basic medicine, Protein-Arginine N-Methyltransferases, Pathology, medicine.medical_specialty, Developmental Disabilities, Intrauterine growth restriction, Astrocytoma, Arginine, Compound heterozygosity, Methylation, Short stature, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Pregnancy, Intellectual Disability, Genetics, medicine, Humans, Global developmental delay, Genetics (clinical), Fetal Growth Retardation, business.industry, Brachydactyly, Infant, Newborn, Infant, medicine.disease, Hypotonia, 030104 developmental biology, Mutation, Muscle Hypotonia, Orbital Neoplasms, Female, Sensorineural hearing loss, medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ed2f6ea600ec14b1c9636a06929e215Test
https://doi.org/10.1002/ajmg.a.6Test

المؤلفون: Marwan Shinawi, Hongjun Zheng, James L Shepherdson, Audrey McAlinden, Ina E Amarillo

المصدر: Bone

مصطلحات موضوعية: 0301 basic medicine, Histology, Nasal bridge, Physiology, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Biology, Article, 03 medical and health sciences, Exon, Frontal Bossing, 0302 clinical medicine, Intellectual Disability, medicine, Humans, Gene, Genetics, Brachydactyly, Syndrome, Microdeletion syndrome, medicine.disease, Long non-coding RNA, DNM3, MicroRNAs, 030104 developmental biology, Phenotype, Female, Chromosome Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79861f8a1a084d35b2e4ebb9bc0048e3Test
https://pubmed.ncbi.nlm.nih.gov/33141070Test

المؤلفون: Erica H. Gerkes, Pietro Strisciuglio, Renata Lazari Sandoval, Todd Waters, A. Rossi, Renata Posmyk, Sheela Unger, Constance T. R. M. Stumpel, Hanne B Hove, Tina Barbaro-Dieber, Marco Tartaglia, Keri Ramsey, Petr E. Jira, Daniel R. Carvalho, Vinodh Narayanan, Leonie A. Menke, Katherine Lachlan, Michael J. Gambello, Viviana Cordeddu, Sandra Jansen, Marrit M. Hitzert, Peter D. Turnpenny, Blanca Gener, Daniela Melis, Raoul C.M. Hennekam, Damara Ortiz, Clare Turnbull, Kyra E. Stuurman, Eline Overwater, Alberto J. Espay

المساهمون: Pediatric surgery, Human genetics, Amsterdam Reproduction & Development (AR&D), Clinical Genetics, Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, General Paediatrics, ANS - Cellular & Molecular Mechanisms, ARD - Amsterdam Reproduction and Development, Human Genetics, Graduate School, ACS - Heart failure & arrhythmias, APH - Quality of Care, Melis, D., Carvalho, D., Barbaro-Dieber, T., Espay, A. J., Gambello, M. J., Gener, B., Gerkes, E., Hitzert, M. M., Hove, H. B., Jansen, S., Jira, P. E., Lachlan, K., Menke, L. A., Narayanan, V., Ortiz, D., Overwater, E., Posmyk, R., Ramsey, K., Rossi, A., Sandoval, R. L., Stumpel, C., Stuurman, K. E., Cordeddu, V., Turnpenny, P., Strisciuglio, P., Tartaglia, M., Unger, S., Waters, T., Turnbull, C., Hennekam, R. C.

المصدر: Clinical Genetics, 97(6), 890-901. Wiley-Blackwell
Clinical Genetics
Clinical Genetics, 97(6), 890-901. Wiley-Blackwell Publishing Ltd
Clinical Genetics, 97(6), 890-901. Wiley
Clinical genetics, 97(6), 890-901. Wiley-Blackwell
Melis, D, Carvalho, D, Barbaro-Dieber, T, Espay, A J, Gambello, M J, Gener, B, Gerkes, E, Hitzert, M M, Hove, H B, Jansen, S, Jira, P E, Lachlan, K, Menke, L A, Narayanan, V, Ortiz, D, Overwater, E, Posmyk, R, Ramsey, K, Rossi, A, Sandoval, R L, Stumpel, C, Stuurman, K E, Cordeddu, V, Turnpenny, P, Strisciuglio, P, Tartaglia, M, Unger, S, Waters, T, Turnbull, C & Hennekam, R C 2020, ' Primrose syndrome : Characterization of the phenotype in 42 patients ', Clinical Genetics, vol. 97, no. 6, pp. 890-901 . https://doi.org/10.1111/cge.13749Test
Clinical genetics, vol. 97, no. 6, pp. 890-901

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, alpha‐fetoprotein, Transcription Factor, 030105 genetics & heredity, Carbon-Carbon Double Bond Isomerase, Racemases and Epimerase, Intellectual disability, ectopic calcifications, Primrose syndrome, Child, Wasting, Enoyl-CoA Hydratase, Genetics (clinical), ABNORMALITIES, 3-Hydroxyacyl CoA Dehydrogenases, Calcinosis, ZBTB20, Middle Aged, Ear Disease, Acetyl-CoA C-Acyltransferase, CANCER, Mitochondria, Muscular Atrophy, DIFFERENTIATION, Phenotype, Child, Preschool, Calcinosi, Original Article, Female, medicine.symptom, Human, Adult, medicine.medical_specialty, Heterozygote, Adolescent, alpha-fetoprotein, overgrowth, Mutation, Missense, Racemases and Epimerases, Nerve Tissue Proteins, Genetic Association Studie, 03 medical and health sciences, Frontal Bossing, Young Adult, Testicular Neoplasms, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, Testicular Neoplasm, Ear Diseases, Genetic Association Studies, Muscle contracture, MUTATIONS, business.industry, ectopic calcification, 3-Hydroxyacyl CoA Dehydrogenase, Macrocephaly, Infant, Original Articles, medicine.disease, Carbon-Carbon Double Bond Isomerases, Megalencephaly, ALPHA, 030104 developmental biology, Palpebral fissure, Face, Nerve Tissue Protein, Mutation, business, FINGER PROTEIN ZBTB20, Calcification, Transcription Factors

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25c704da4b2a461a7f3c66ca7f294abeTest
http://hdl.handle.net/11386/4745225Test

المؤلفون: Marc C. Patterson, Thomas Courtin, Scott D. McLean, Jeanne Amiel, Kimberly Nugent, Daryl A. Scott, Maham Sewani, Sandra Whalen, Boris Keren, Yaping Yang, Patrick R. Blackburn, Jessica M. Tarnowski, Jill A. Rosenfeld, Pavel N. Pichurin, Andres Hernandez-Garcia

المصدر: American journal of medical genetics. Part AREFERENCES. 182(4)

مصطلحات موضوعية: 0301 basic medicine, Adult, Heart Defects, Congenital, Male, Developmental Disabilities, Gestational Age, 030105 genetics & heredity, Biology, Corpus callosum, 03 medical and health sciences, Frontal Bossing, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Genetics (clinical), Loss function, Hemizygote, Macrocephaly, RNA-Binding Proteins, Syndrome, medicine.disease, Hypotonia, DNA-Binding Proteins, 030104 developmental biology, Palpebral fissure, Phenotype, Child, Preschool, Mutation, Left ventricular noncompaction, Female, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cff03a9d644f71db78d3cdae7c74f8aTest
https://pubmed.ncbi.nlm.nih.gov/31883306Test

المؤلفون: Sibylle Zotter, Dieter Kotzot, Johannes Zschocke, Martina Witsch-Baumgartner, Edda Haberlandt

المصدر: European Journal of Pediatrics. 173:1257-1261

مصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pathology, Adolescent, Fragile X Mental Retardation Protein, Frontal Bossing, Pathognomonic, Intellectual Disability, Intellectual disability, medicine, Humans, Macroorchidism, business.industry, Point mutation, DNA Methylation, medicine.disease, Dermatology, FMR1, Pedigree, Premature ovarian failure, Fragile X syndrome, Phenotype, Face, Fragile X Syndrome, Mutation, Pediatrics, Perinatology and Child Health, business, Biomarkers

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bafd8e849434da7b16875faa6eb055c5Test
https://doi.org/10.1007/s00431-014-2375-6Test

المؤلفون: Rachel Frumkin-Ben David, Liora Lazar, Galia Gat-Yablonski, Olga Potievsky, Moshe Phillip, Meytal Bar

المصدر: American Journal of Medical Genetics Part A. 155:2242-2246

مصطلحات موضوعية: medicine.medical_specialty, Somatotropic cell, Thyrotropin, Growth hormone deficiency, Thyroid hormone receptor beta, Frontal Bossing, Intellectual Disability, Internal medicine, Intellectual disability, Genetics, medicine, Laron syndrome, Humans, Abnormalities, Multiple, Insulin-Like Growth Factor I, Israel, Child, Genetics (clinical), Endosomal Sorting Complexes Required for Transport, business.industry, medicine.disease, Laron Syndrome, Prolactin, Endocrinology, Liver, Growth Hormone, Chromosomal region, Premature Birth, Female, Chromosomes, Human, Pair 3, Chromosome Deletion, Transcription Factor Pit-1, business, Transcription Factors, Endocrine gland

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::33556452dbf1c037d078f32c3d0bfe6dTest
https://doi.org/10.1002/ajmg.a.34136Test

المؤلفون: Reinhard Ullmann, Luitgard Graul-Neumann, Heidemarie Neitzel, Kateryna Konrat, Andreas Tzschach, Reyk Richter, Grit Ebert

المصدر: American Journal of Medical Genetics Part A. :242-245

مصطلحات موضوعية: Pathology, medicine.medical_specialty, Microcephaly, Dolichocephaly, Developmental Disabilities, Chromosome Disorders, Short stature, Frontal Bossing, Intellectual Disability, Genetics, Humans, Medicine, Abnormalities, Multiple, Child, Growth Disorders, Genetics (clinical), Sequence Deletion, Comparative Genomic Hybridization, business.industry, Chromosome, medicine.disease, Phenotype, Chromosomes, Human, Pair 2, Female, medicine.symptom, business, Haploinsufficiency, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2e0eef46854b03e4a25b77318acdb31Test
https://doi.org/10.1002/ajmg.a.32637Test

المؤلفون: Rosamaria Silipigni, Maria Francesca Bedeschi, Monica Fumagalli, Elisa Cattaneo, Marco Baccarin

المصدر: European journal of medical genetics. 59(1)

مصطلحات موضوعية: 0301 basic medicine, Microarray, LRRTM1, Choanal atresia, 030105 genetics & heredity, Bioinformatics, Choanal Atresia, Heart Septal Defects, Atrial, 03 medical and health sciences, Frontal Bossing, Intellectual disability, Genetics, Medicine, Humans, Abnormalities, Multiple, MULTIPLE MALFORMATIONS, Genetics (clinical), business.industry, Chromosome, Infant, General Medicine, medicine.disease, Bilateral choanal atresia, Chromosomes, Human, Pair 2, Female, business, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3048f8eadf599cd24167ec8d5821575aTest
https://pubmed.ncbi.nlm.nih.gov/26700408Test

المؤلفون: Shoko Fujinaga, Nobuhiko Okamoto, Junya Shimizu, Shinsuke Ninomiya, Hirosuke Morita, Tomoyuki Akiyama, Jun-ichi Takanashi, Akihito Takeuchi, Toshihide Kubo

المصدر: European journal of medical genetics. 58(8)

مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Heterozygote, Gene Expression, Nails, Malformed, White matter, Craniofacial Abnormalities, Frontal Bossing, Atrophy, Internal medicine, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, Congenital Malformation Syndrome, Genetics (clinical), medicine.diagnostic_test, business.industry, Schinzel–Giedion syndrome, Infant, Newborn, Brain, Nuclear Proteins, Magnetic resonance imaging, General Medicine, Exons, Sequence Analysis, DNA, medicine.disease, Epileptic spasms, medicine.anatomical_structure, Endocrinology, Mutation, Disease Progression, business, Carrier Proteins, Hand Deformities, Congenital, Spasms, Infantile, Diffusion MRI

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c2391d6ca9c631da282449af63ae905Test
https://pubmed.ncbi.nlm.nih.gov/26096993Test