المؤلفون: José J. Casasnovas-Nieves, Yacidzohara Rodríguez, Hector L. Franco, Carmen L. Cadilla

المصدر: Genes, Vol 14, Iss 9, p 1733 (2023)

مصطلحات موضوعية: Setleis syndrome, TWIST transcription factors, bHLH, SREBP1c, ADD1, CHRDL1, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/14/9/1733Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/20c5068dc3fa419d80dc6ade48f9b492Test

المؤلفون: Laura Mazzanti, Nathalie Roche, Raoul C.M. Hennekam, Beatrice De Maria

المصدر: American Journal of Medical Genetics Part A. 170:1989-2001

مصطلحات موضوعية: 0301 basic medicine, Hypertrichosis, Philtrum, Setleis syndrome, business.industry, Ectropion, Anatomy, 030105 genetics & heredity, Cheek, medicine.disease, 03 medical and health sciences, Macrostomia, 0302 clinical medicine, medicine.anatomical_structure, Ablepharon macrostomia syndrome, 030221 ophthalmology & optometry, Genetics, medicine, sense organs, Hypertelorism, medicine.symptom, business, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3bbf322fe1d29344850a374d8950e951Test
https://doi.org/10.1002/ajmg.a.37757Test

المؤلفون: Christos Kasparis, Celia Moss, Robert J. Desnick, David D. Weaver, Hui Mei, Beom Hee Lee, Brenden Chen, Lisa Edelmann

المصدر: Journal of Human Genetics. 60:717-722

مصطلحات موضوعية: Male, Genetic counseling, Focal facial dermal dysplasia, Penetrance, Biology, Skin Diseases, Young Adult, Ectodermal Dysplasia, Chromosome Duplication, Gene duplication, Genetics, medicine, Humans, Copy-number variation, Genetics (clinical), Setleis syndrome, Genetic heterogeneity, Twist-Related Protein 1, Focal Facial Dermal Dysplasias, medicine.disease, Phenotype, Pedigree, Focal Dermal Hypoplasia, Repressor Proteins, Chromosomes, Human, Pair 1, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82f4d1e95288ea68bc72787fef717fedTest
https://doi.org/10.1038/jhg.2015.103Test

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: M. Bekerecioglu, Sacide Pehlivan, H. Ozgur, A.K. Aggarwal, Z.O. Uyguner, Robert J. Desnick, Rasim Ozgur Rosti, Carmen L. Cadilla, Brendan Lee, I. Nazarenko

المصدر: Clinical Genetics. 88:489-493

مصطلحات موضوعية: Genetics, Setleis syndrome, Repressor, Biology, medicine.disease, Focal dermal hypoplasia, Twist transcription factor, Mutant protein, medicine, Missense mutation, Transcription factor, Gene, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bb0af6ecad8a96323f30dafe3e505a53Test
https://doi.org/10.1111/cge.12539Test

المؤلفون: Karola Stieler, Ulrike Blume-Peytavi, Andreas Tzschach, Luitgard Graul-Neumann

المصدر: American Journal of Medical Genetics Part A. :746-750

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Focal facial dermal dysplasia, Locus (genetics), Nystagmus, Biology, Ectodermal Dysplasia, Genetic linkage, Germany, Genetics, medicine, Humans, Abnormalities, Multiple, Ear, External, Genetics (clinical), Genes, Dominant, Eyelashes, Setleis syndrome, Eyelids, Syndrome, Middle Aged, medicine.disease, Dermatology, Pedigree, Focal Dermal Hypoplasia, Dysplasia, Child, Preschool, Face, BRAUER-SETLEIS SYNDROME, Etiology, Female, Eyebrows, medicine.symptom, Nystagmus, Congenital

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8ebb3ef874781e913d5d12fe249a6bbTest
https://doi.org/10.1002/ajmg.a.32728Test

المؤلفون: De Maria, Beatrice, Mazzanti, Laura, Roche, Nathalie, Hennekam, Raoul C

المصدر: AMERICAN JOURNAL OF MEDICAL GENETICS PART A ; ISSN: 1552-4825

مصطلحات موضوعية: Medicine and Health Sciences, Barber-Say syndrome, ablepharon-macrostomia syndrome, review, phenotype, TWIST2, Setleis syndrome, plastic surgery, management, AUTOSOMAL-DOMINANT INHERITANCE, ATROPHIC SKIN, FAMILIAL OCCURRENCE, HYPERTRICHOSIS, ECTROPION, FORM, MACROBLEPHARON, ABNORMALITIES, HYPERTELORISM

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/8507336Test; http://hdl.handle.net/1854/LU-8507336Test; http://dx.doi.org/10.1002/ajmg.a.37757Test; https://biblio.ugent.be/publication/8507336/file/8508160Test

الإتاحة: https://doi.org/10.1002/ajmg.a.37757Test
https://biblio.ugent.be/publication/8507336Test
http://hdl.handle.net/1854/LU-8507336Test
https://biblio.ugent.be/publication/8507336/file/8508160Test

المؤلفون: Yongchao Ge, Ruth G. Leon, Robert Friesel, Hector L. Franco, Carmen L. Cadilla, Jose J Casasnovas, Robert J. Desnick

المصدر: The International Journal of Biochemistry & Cell Biology. 43:1523-1531

مصطلحات موضوعية: Transcriptional Activation, Mutant, Nonsense mutation, Biology, Periostin, Skin Diseases, Biochemistry, Article, Twist transcription factor, Transactivation, Ectodermal Dysplasia, medicine, Humans, Transcription factor, Cells, Cultured, Setleis syndrome, Helix-Loop-Helix Motifs, Twist-Related Protein 1, Focal Facial Dermal Dysplasias, Cell Biology, Fibroblasts, medicine.disease, Molecular biology, Focal Dermal Hypoplasia, Repressor Proteins, Codon, Nonsense, Protein Multimerization, Cell Adhesion Molecules, Chromatin immunoprecipitation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bba40453af0cdb6fb15fe06c15de5e72Test
https://doi.org/10.1016/j.biocel.2011.07.003Test

المؤلفون: Marchegiani, Shannon, Davis, Taylor, Tessadori, Federico, van Haaften, Gijs, 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 BA, van Haelst, Mieke M, Zenker, Martin, Markello, Thomas C

المصدر: AMERICAN JOURNAL OF HUMAN GENETICS ; ISSN: 0002-9297

مصطلحات موضوعية: Biology and Life Sciences, EPITHELIAL-MESENCHYMAL TRANSITION, MORPHOLOGY STANDARD TERMINOLOGY, AUTOSOMAL-DOMINANT INHERITANCE, SAETHRE-CHOTZEN SYNDROME, SETLEIS SYNDROME, ATROPHIC SKIN, UNDIAGNOSED DISEASES, TRANSCRIPTION FACTOR, FRAMESHIFT MUTATION, FAMILIAL OCCURRENCE

وصف الملف: application/pdf

العلاقة: https://biblio.ugent.be/publication/7260803Test; http://hdl.handle.net/1854/LU-7260803Test; http://dx.doi.org/10.1016/j.ajhg.2015.05.017Test; https://biblio.ugent.be/publication/7260803/file/7260863Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2015.05.017Test
https://biblio.ugent.be/publication/7260803Test
http://hdl.handle.net/1854/LU-7260803Test
https://biblio.ugent.be/publication/7260803/file/7260863Test

المؤلفون: Giordano, Lucio, Desnick, Robert J, Molinaro, Anna, Uliana, Vera, Forzano, Francesca, Edelmann, Lisa, Nazarenko, Irene, Pinelli, Lorenzo, Accorsi, Patrizia, Faravelli, Francesca

المساهمون: Giordano, Lucio, Desnick, Robert J, Molinaro, Anna, Uliana, Vera, Forzano, Francesca, Edelmann, Lisa, Nazarenko, Irene, Pinelli, Lorenzo, Accorsi, Patrizia, Faravelli, Francesca

مصطلحات موضوعية: Setleis syndrome, TWIST2 gene, developmental delay, epilepsy, focal facial dermal dysplasias

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24486222; info:eu-repo/semantics/altIdentifier/wos/WOS:000333866200023; volume:50; issue:4; firstpage:389; lastpage:391; numberofpages:3; journal:PEDIATRIC NEUROLOGY; https://hdl.handle.net/11379/569285Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84896383994

الإتاحة: https://doi.org/10.1016/j.pediatrneurol.2013.12.009Test
https://hdl.handle.net/11379/569285Test