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المؤلفون: Hülya Kayserili, Dilek Uludağ Alkaya, Sukru Palanduz, Ercan Mihci, Nilay Güneş, Banu Güzel Nur, Elifcan Taşdelen, Güven Toksoy, Sukru Ozturk, Tugba Kalayci, Zehra Oya Uyguner, Zuhal Bayramoglu, Beyhan Tüysüz, Umut Altunoglu, Leyla Elkanova, Ezgi Gizem Berkay, Volkan Karaman, Kivanc Cefle
المصدر: American Journal of Medical Genetics Part A. 185:2488-2495
مصطلحات موضوعية: medicine.medical_specialty, Cleidocranial Dysplasia, business.industry, Scoliosis, medicine.disease, Gastroenterology, Short stature, Frontal Bossing, medicine.anatomical_structure, Skeletal disorder, Clavicle, Internal medicine, Genetics, medicine, Wormian bones, Allelic heterogeneity, medicine.symptom, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3cdc5099a357ca74e90954c1da84212bTest
https://doi.org/10.1002/ajmg.a.62261Test -
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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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المؤلفون: Hande Turan, Oya Ercan, Busra Kasap, Gozde Yesil, Zeynep Alp Ünkar, Alper Gezdirici, Dilek Uludağ Alkaya, Beyhan Tüysüz, Mehmet Vural
المصدر: European journal of medical genetics. 64(12)
مصطلحات موضوعية: Male, Adolescent, Hyperlordosis, Dwarfism, Cohort Studies, Frontal Bossing, Young Adult, Genetics, Medicine, Humans, Child, Genetics (clinical), Nose, Rib cage, business.industry, Genetic Variation, Infant, Slender long bone, General Medicine, Anatomy, Cullin Proteins, Body Height, Spine, Tubercle of the upper lip, Natural history, Cytoskeletal Proteins, medicine.anatomical_structure, Child, Preschool, Face, Cohort, Muscle Hypotonia, Female, business, Carrier Proteins
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d50c30bb9a6b2fc60489b8a5b68cb7dfTest
https://pubmed.ncbi.nlm.nih.gov/34597859Test -
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المؤلفون: Kerri Bosfield, Jullianne Diaz, Eyby Leon
المصدر: Mol Syndromol
مصطلحات موضوعية: business.industry, Microretrognathia, Macrocephaly, Karyotype, Anatomy, medicine.disease, Frontal Bossing, Novel Insights from Clinical Practice, Gene duplication, Genetics, Medicine, Palatal anomalies, Global developmental delay, medicine.symptom, business, Kyphoscoliosis, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18038b0d479c3d65765cf15a5b69e4f2Test
https://europepmc.org/articles/PMC8215960Test/ -
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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 -
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المؤلفون: Shinji Takeyari, Kei Miyata, Tadashi Kaname, Taichi Kitaoka, Yasuhisa Ohata, Hirofumi Nakayama, Keiichi Ozono, Keiko Yamamoto, Takuo Kubota, Kumiko Yanagi, Kenichi Yamamoto
المصدر: American Journal of Medical Genetics Part A. 176:2882-2886
مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, medicine.medical_specialty, Adolescent, Craniofacial abnormality, DNA Mutational Analysis, Vesicular Transport Proteins, Compound heterozygosity, Short stature, Craniosynostoses, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, Japan, Exome Sequencing, Genetics, medicine, Humans, Eye Abnormalities, Alleles, Genetic Association Studies, Genetics (clinical), Exome sequencing, business.industry, Brain, Osteogenesis Imperfecta, medicine.disease, Dermatology, Phenotype, 030104 developmental biology, Dysplasia, Osteogenesis imperfecta, Mutation, medicine.symptom, business, Cole Carpenter syndrome, 030217 neurology & neurosurgery, Hydrocephalus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20eef94ebb2bdbdf8ed9015044a6b210Test
https://doi.org/10.1002/ajmg.a.40643Test -
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المؤلفون: Amjed Abu-Ghname, Anjali C. Raghuram, Renata S. Maricevich, Matthew J. Davis, Claudia M.B. Carvalho, Diana E Guillen, V. Reid Sutton, Christopher J. Conlon
المصدر: American journal of medical genetics. Part AREFERENCES. 185(12)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Genotype, Craniofacial abnormality, Limb Deformities, Congenital, Physical examination, Dwarfism, Genes, Recessive, Craniofacial Abnormalities, Frontal Bossing, Young Adult, Genetics, medicine, Humans, Abnormalities, Multiple, Craniofacial, Hypertelorism, Child, Genetics (clinical), Genes, Dominant, medicine.diagnostic_test, business.industry, Macrocephaly, ROR2, Middle Aged, medicine.disease, Dermatology, Robinow syndrome, Spine, Phenotype, Child, Preschool, Urogenital Abnormalities, Mutation, Female, medicine.symptom, Mouth Abnormalities, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c30ba8946941124bc0c86aa0e27621e4Test
https://pubmed.ncbi.nlm.nih.gov/33237614Test -
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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. 890-901مصطلحات 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 -
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المؤلفون: Manal M. Thomas, Angie M.S. Tosson, Hala T. El-Bassyouni
المصدر: J Pediatr Genet
مصطلحات موضوعية: Hypertrichosis, 0303 health sciences, medicine.medical_specialty, medicine.diagnostic_test, business.industry, 030305 genetics & heredity, Autoinflammatory Syndrome, medicine.disease, Dermatology, 03 medical and health sciences, Frontal Bossing, 0302 clinical medicine, medicine.anatomical_structure, Pectus excavatum, Erythrocyte sedimentation rate, Pediatrics, Perinatology and Child Health, medicine, Abdomen, Sensorineural hearing loss, medicine.symptom, business, 030217 neurology & neurosurgery, Genetics (clinical), Hypopigmentation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c53f87fc474a1f6ff76afa496288d3c1Test
https://europepmc.org/articles/PMC7183402Test/ -
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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