المؤلفون: Laura Malchodi, Elizabeth Carter, Shannon Marchegiani

المصدر: Pediatrics in review. 40(Suppl 1)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Birth weight, Physical examination, Spinal Muscular Atrophies of Childhood, Hypoxemia, 03 medical and health sciences, 0302 clinical medicine, Weight loss, 030225 pediatrics, medicine, Humans, 030212 general & internal medicine, Full Term, Pregnancy, medicine.diagnostic_test, business.industry, Infant, medicine.disease, Hypotonia, Failure to Thrive, Pediatrics, Perinatology and Child Health, Failure to thrive, Muscle Hypotonia, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cde561ba4fa101b5fde2fef221f9759Test
https://pubmed.ncbi.nlm.nih.gov/31575693Test

المؤلفون: Elise Valkanas, Hon-Yin Brian Chung, Peter Farndon, Patricia M. Zerfas, Oliver Bartsch, Martin Zenker, Jeroen Bakkers, Alexander Hoischen, Feliciano J. Ramos, Eva Bermejo-Sánchez, Haigen Huang, Gijs van Haaften, Lynne A. Wolfe, Taylor Davis, Eduarda Morgana da Silva, Han G. Brunner, W. K. Jacyk, Bruno Dallapiccola, Laura Mazzanti, Cathy A. Stevens, Mieke M. van Haelst, Hanka Venselaar, Cornelius F. Boerkoel, Francesco Brancati, Cynthia J. Tifft, May Christine V. Malicdan, Nathalie Roche, Bert B.A. de Vries, Victor Evangelista de Faria Ferraz, Chyi-Chia Richard Lee, Brian P. Brooks, Farahnaz Sabbagh-Kermani, Federico Tessadori, Denny Schanze, Barbara N. Pusey, Ariana Kariminejad, Valerie Maduro, Janice Lee, Giovanna Zambruno, Shuo Lin, Cédric Le Caignec, Thomas C. Markello, Maria Tsokos, Shannon Marchegiani, Fabiana Martins, William A. Gahl, Anneke T. Vulto-van Silfhout

المساهمون: Other departments, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), MUMC+: DA Klinische Genetica (5), RS: GROW - Developmental Biology, RS: GROW - R4 - Reproductive and Perinatal Medicine, Marchegiani, Shannon, Davis, Taylor, Tessadori, Federico, Van Haaften, Gij, Brancati, Francesco, Hoischen, Alexander, Huang, Haigen, Valkanas, Elise, Pusey, Barbara, Schanze, Denny, Venselaar, Hanka, Vulto-Van Silfhout, Anneke T., Wolfe, Lynne A., Tifft, Cynthia J., Zerfas, Patricia M., Zambruno, Giovanna, Kariminejad, Ariana, Sabbagh-Kermani, Farahnaz, Lee, Janice, Tsokos, Maria G., Lee, Chyi-Chia R., Ferraz, Victor, Da Silva, Eduarda Morgana, Stevens, Cathy A., Roche, Nathalie, Bartsch, Oliver, Farndon, Peter, Bermejo-Sanchez, Eva, Brooks, Brian P., Maduro, Valerie, Dallapiccola, Bruno, Ramos, Feliciano J., Chung, Hon-Yin Brian, Le Caignec, Cédric, Martins, Fabiana, Jacyk, Witold K., Mazzanti, Laura, Brunner, Han G., Bakkers, Jeroen, Lin, Shuo, Malicdan, May Christine V., Boerkoel, Cornelius F., Gahl, William A., De Vries, Bert B.A., Van Haelst, Mieke M., Zenker, Martin, Markello, Thomas C., Hubrecht Institute for Developmental Biology and Stem Cell Research

المصدر: American Journal of Human Genetics, 97, 1, pp. 99-110
Marchegiani, S, Davis, T, Tessadori, F, van Haaften, G, Brancati, F, Hoischen, A, Huang, H, Valkanas, E, Pusey, B, Schanze, D, Venselaar, H, Vulto-van Silfhout, A T, Wolfe, L A, Tifft, C J, Zerfas, P M, Zambruno, G, Kariminejad, A, Sabbagh-Kermani, F, Lee, J, Tsokos, M G, Lee, C-C R, Ferraz, V, da Silva, E M, Stevens, C A, Roche, N, Bartsch, O, Farndon, P, Bermejo-Sanchez, E, Brooks, B P, Maduro, V, Dallapiccola, B, Ramos, F J, Chung, H-Y B, Le Caignec, C, Martins, F, Jacyk, W K, Mazzanti, L, Brunner, H G, Bakkers, J, Lin, S, Malicdan, M C V, Boerkoel, C F, Gahl, W A, de Vries, B B A, van Haelst, M M, Zenker, M & Markello, T C 2015, ' Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes ', American journal of human genetics, vol. 97, no. 1, pp. 99-110 . https://doi.org/10.1016/j.ajhg.2015.05.017Test
American Journal of Human Genetics, 97, 99-110
American Journal of Human Genetics, 97(1), 99. Cell Press
American journal of human genetics, 97(1), 99-110. Cell Press
American Journal of Human Genetics, 97(1), 99-110. Cell Press
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

مصطلحات موضوعية: Models, Molecular, Candidate gene, Hirsutism, Protein Conformation, HeLa Cell, medicine.disease_cause, Transcriptome, Twist transcription factor, Models, Genetics(clinical), Exome, Eye Abnormalities, Non-U.S. Gov't, Genetics (clinical), Zebrafish, Genetics, Mutation, Microscopy, Macrostomia, Setleis syndrome, Hypertelorism, Research Support, Non-U.S. Gov't, Hypertrichosi, Eyelid Disease, GENÉTICA, Phenotype, Eyelid Diseases, Abnormalities, Multiple, Sequence Analysis, Human, Chromatin Immunoprecipitation, Molecular Sequence Data, Mutation, Missense, Hypertrichosis, Amino Acid Sequence, Animals, Base Sequence, HeLa Cells, Humans, Electron, Missense, Repressor Proteins, DNA, Skin Abnormalities, Twist Transcription Factor, Molecular, Other Research Radboud Institute for Molecular Life Sciences [Radboudumc 0], Biology, Research Support, Article, Frameshift mutation, Genetic, Ablepharon macrostomia syndrome, Skin Abnormalitie, medicine, Journal Article, Abnormalities, Multiple, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Animal, Twist-Related Protein 1, Sequence Analysis, DNA, Repressor Protein, medicine.disease, Eye Abnormalitie, Microscopy, Electron, sense organs, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]

وصف الملف: application/pdf; image/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1749856e024ae1fd6a1491db82f32077Test
https://doi.org/10.1016/j.ajhg.2015.05.017Test

المؤلفون: Hon-Yin Brian Chung, Raoul C.M. Hennekam, Maura Foresti, Ankur Singh, Kenichi Suga, Francesco Brancati, Marina Gallottini, Albert David, Beatrice De Maria, Oliver Bartsch, Ariana Kariminejad, Martin Zenker, Nathalie Roche, Shannon Marchegiani, Fabiana Martins, Tresia de Jager, Alberto Bianchi, Laura Mazzanti, Bertrand Isidor, Caitlin Sarubbi, Cathy A. Stevens

المساهمون: De Maria B, de Jager T, Sarubbi C, Bartsch O, Bianchi A, Brancati F, Chung HB, David A, Kariminejad A, Foresti M, Gallottini M, Isidor B, Marchegiani S, Martins F, Mazzanti L, Roche N, Singh A, Stevens C, Suga K, Zenker M, Hennekam RC., APH - Quality of Care, Paediatric Genetics

المصدر: MOLECULAR SYNDROMOLOGY
Molecular syndromology, 8(4), 172-178. S. Karger AG

مصطلحات موضوعية: 0301 basic medicine, Quality of life, medicine.medical_specialty, Ablepharon-macrostomia syndrome · Barber-Say syndrome · Body satisfaction · Patient perception · Psychosocial functioning · Quality of life · Questionnaire study, media_common.quotation_subject, Body satisfaction, 030105 genetics & heredity, Human physical appearance, BARBER-SAY SYNDROME, Psychosocial functioning, 03 medical and health sciences, Ablepharon macrostomia syndrome, Physical functioning, Perception, Medicine and Health Sciences, medicine, Genetics, Ablepharon-macrostomia syndrome, Barber-Say syndrome, Patient perception, Questionnaire study, Genetics (clinical), Psychiatry, media_common, business.industry, medicine.disease, Original Article, business, Psychosocial, FACIAL DISFIGUREMENT

وصف الملف: application/pdf; ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c23e6b51219ba442b97e54fcc760da4dTest
http://hdl.handle.net/11697/122117Test

المؤلفون: Devon Kuehn, Luis Rohena, Shannon Marchegiani, Jason Higginson

المصدر: American Journal of Medical Genetics Part A. 155:850-854

مصطلحات موضوعية: Male, medicine.medical_specialty, Hearing loss, Chromosome Disorders, Variable Expression, Young Adult, Camptodactyly, Ablepharon macrostomia syndrome, Genetics, Humans, Medicine, Abnormalities, Multiple, Eye Abnormalities, Hypertelorism, Genetics (clinical), Genes, Dominant, Ultrasonography, Lanugo, Macrostomia, business.industry, Infant, Newborn, medicine.disease, Dermatology, Phenotype, Anticipation (genetics), Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c74cb22acd8ce45b3181cc1bfeec768Test
https://doi.org/10.1002/ajmg.a.33900Test