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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.61321Testمصطلحات 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 -
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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 -
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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 -
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المؤلفون: Davide De Brasi, Maria Antonietta Pisanti, Roberta Petillo, Cristina Tortora, Paolo Fontana, Mariateresa Falco, Martina Miniero
المصدر: American Journal of Medical Genetics Part A. 170:2445-2448
مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, 030105 genetics & heredity, Short stature, 03 medical and health sciences, Frontal Bossing, Genetics, medicine, Humans, Abnormalities, Multiple, Clinical phenotype, Genetic Association Studies, Genetics (clinical), Ultrasonography, business.industry, Long philtrum, Brain, Infant, Syndrome, Anatomy, Magnetic Resonance Imaging, Hypotonia, Phenotype, 030104 developmental biology, Echocardiography, Square face, Chromosomes, Human, Pair 5, Chromosome Deletion, medicine.symptom, Prominent columella, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0734bf7183834b3347822ed8e0d5107aTest
https://doi.org/10.1002/ajmg.a.37824Test -
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المؤلفون: Robert Pogue, Romina Soledad Heredia, Maria Terezinha O. Cardoso, Felipe Albuquerque Marques, Juliana F. Mazzeu, Claudiner Pereira de Oliveira
المصدر: American Journal of Medical Genetics Part A. 167:412-416
مصطلحات موضوعية: Male, Monosomy, Microcephaly, Trisomy, Chromosomal translocation, Biology, Craniosynostosis, Craniosynostoses, Frontal Bossing, Gene duplication, Genetics, medicine, Humans, Syndactyly, Child, Genetics (clinical), Comparative Genomic Hybridization, Facies, Karyotype, Syndrome, medicine.disease, Chromosome Banding, Phenotype, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f572780b58533e194fd6b1c66e5d48fTest
https://doi.org/10.1002/ajmg.a.36844Test -
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المؤلفون: Nadezhda P. Babushkina, Lyudmila P. Nazarenko, Igor N. Lebedev, A. A. Kashevarova, Nikolay A. Skryabin
المصدر: American journal of medical genetics. Part A. 170(8)
مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, DNA Copy Number Variations, Developmental Disabilities, Trisomy, Biology, Speech Disorders, Hemangioma, 03 medical and health sciences, Frontal Bossing, Colon, Sigmoid, Genetics, medicine, Humans, Clinical significance, Copy-number variation, Genetics (clinical), Genetic Association Studies, Comparative Genomic Hybridization, Macrocephaly, Facies, Syndrome, Microdeletion syndrome, medicine.disease, Chromosome Banding, 030104 developmental biology, Neonatal hypotonia, Phenotype, Child, Preschool, Female, medicine.symptom, Chromosome Deletion, Chromosomes, Human, Pair 4, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d225bb0cd40b023181fc89cc0636a25Test
https://pubmed.ncbi.nlm.nih.gov/27288323Test -
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المؤلفون: Pia Pohjola, Sinikka Pirinen, Johanna Kotilainen, Sirpa Arte, Pekka Nieminen
المصدر: American Journal of Medical Genetics Part A. :2409-2414
مصطلحات موضوعية: Male, Adolescent, Cephalometry, Dentistry, Biology, Dental Occlusion, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, stomatognathic system, Genetics, medicine, Premolar, Dentition, Humans, Abnormalities, Multiple, Bicuspid, Child, Dental Enamel, 10. No inequality, Genetics (clinical), Anodontia, 030304 developmental biology, 0303 health sciences, Tooth Abnormalities, business.industry, Dental occlusion, Sotos syndrome, Body Weight, Intracellular Signaling Peptides and Proteins, Nuclear Proteins, Histone-Lysine N-Methyltransferase, Syndrome, 030206 dentistry, Anatomy, medicine.disease, Body Height, stomatognathic diseases, Hypodontia, medicine.anatomical_structure, Tooth wear, Child, Preschool, Agenesis, Mutation, Histone Methyltransferases, Female, Tooth Wear, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6a6e732eed6c57ffe0d884e647cfaceTest
https://doi.org/10.1002/ajmg.a.33062Test -
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المؤلفون: Ursula Holder, Eleanor S. Click, Michael L. Cunningham, Anne V. Hing, Marianne L. Seto, Richard A. Hopper, Joseph S. Gruss, Kyle Vessey
المصدر: American Journal of Medical Genetics Part A. :1024-1032
مصطلحات موضوعية: Male, business.industry, Skull, Dysostosis, Syndrome, Anatomy, Synostosis, Craniosynostoses, medicine.disease, Sagittal plane, Craniosynostosis, Radiography, Frontal Bossing, Phenotype, medicine.anatomical_structure, Face, Genetics, Humans, Medicine, Female, Craniofacial, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e2199a216577beeef9e1125407f5f95Test
https://doi.org/10.1002/ajmg.a.32782Test -
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المؤلفون: Leila Samaras, Eliane Chouery, Joelle Abou-Ghoch, Rima Chédid, Dominique Chretien, Nadine Jalkh, André Mégarbané, Catherine Caillaud
المصدر: American Journal of Medical Genetics Part A. :3198-3201
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pediatrics, Developmental Disabilities, Telecanthus, Frontal Bossing, Internal medicine, Genetics, medicine, Humans, Hypertelorism, Long eyelashes, Genetics (clinical), hirsutism, business.industry, Infant, Newborn, Infant, Syndrome, medicine.disease, Skin Aging, Radiography, Developmental disorder, Fractures, Spontaneous, Endocrinology, medicine.anatomical_structure, Palpebral fissure, Abdomen, Female, medicine.symptom, business, Liver Failure
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1571a763fc9d87320185e43d56073f05Test
https://doi.org/10.1002/ajmg.a.32579Test -
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المؤلفون: Lesley C. Adès
المصدر: Clinical Dysmorphology. 17:243-248
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Dolichocephaly, Receptor, Transforming Growth Factor-beta Type I, Protein Serine-Threonine Kinases, Pathology and Forensic Medicine, Craniosynostosis, Craniofacial Abnormalities, Frontal Bossing, Anterior hairline, medicine, Humans, Maxillary central incisor, Hypertelorism, Craniofacial, Child, Maxillofacial Development, Genetics (clinical), business.industry, Loeys-Dietz Syndrome Type II, Receptor, Transforming Growth Factor-beta Type II, Syndrome, General Medicine, Anatomy, medicine.disease, Aortic Aneurysm, Pedigree, Surgery, Child, Preschool, Face, Mutation, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Receptors, Transforming Growth Factor beta, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52d502e525ed0b3370ae8b33189d15fdTest
https://doi.org/10.1097/mcd.0b013e328303e5d3Test