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1Academic Journal
المصدر: Genes ; Volume 14 ; Issue 9 ; Pages: 1733
مصطلحات موضوعية: Setleis syndrome, TWIST transcription factors, bHLH, SREBP1c, ADD1, CHRDL1, BMP signaling
جغرافية الموضوع: agris
وصف الملف: application/pdf
Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14091733
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2
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)
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3
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
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4
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.2015.05.017
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:USPمصطلحات 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
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5
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
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6
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)
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7
المساهمون: De Maria, Beatrice, Mazzanti, Laura, Roche, Nathalie, Hennekam, Raoul C., ANS - Complex Trait Genetics, APH - Amsterdam Public Health, Paediatric Genetics
المصدر: American journal of medical genetics. Part A, 170A(8), 1989-2001. Wiley-Liss Inc.
مصطلحات موضوعية: Hirsutism, Genotype, review, Hypertrichosis, Genetic Association Studie, TWIST2, ablepharon-macrostomia syndrome, Genetic, plastic surgery, Skin Abnormalitie, Humans, Setleis syndrome, Abnormalities, Multiple, Eye Abnormalities, Genetics (clinical), Genetic Association Studies, Macrostomia, Hypertelorism, Twist-Related Protein 2, Hypertrichosi, Facies, Eyelid Disease, Facie, Eye Abnormalitie, Phenotype, Mutation, Eyelid Diseases, Skin Abnormalities, Barber-Say syndrome, sense organs, management, Human
وصف الملف: ELETTRONICO
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8
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
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9
المؤلفون: Julie McGaughran, Salim Aftimos
المصدر: American Journal of Medical Genetics. 111:376-380
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Setleis syndrome, business.industry, Focal facial dermal dysplasia, Atrophic skin, Normal intelligence, Aplasia, medicine.disease, Dermatology, Developmental disorder, Cutis aplasia, Humans, Medicine, Abnormalities, Multiple, Periorbital puffiness, medicine.symptom, Child, business, Genetics (clinical), Genes, Dominant
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10
المؤلفون: Kenji Suzuki, Yutaka Ogawa, Kenji Kusumoto, Atsuko Tanabe
المصدر: Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery. 35:107-111
مصطلحات موضوعية: medicine.medical_specialty, Setleis syndrome, business.industry, Plastic Surgical Procedures, MEDLINE, Medicine, General Medicine, business, medicine.disease, Dermatology
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11
المؤلفون: H. Toriello, Steven E.R. Hovius, Martijn H. Breuning, Ad F. M. Diepstraten, Annemarie Sommer, Arnold P. Oranje, R.A.Th.M. Langemeijer, J C den Hollander, J.R. Dwek, N. Baumgartner
المصدر: American Journal of Medical Genetics. 94:91-101
مصطلحات موضوعية: Coloboma, Setleis syndrome, business.industry, Dysostosis, Anatomy, medicine.disease, Microphthalmia, Focal dermal hypoplasia, body regions, stomatognathic diseases, Anal atresia, Dysplasia, medicine, Fibroma, business, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b73a7e5bdc30bf3b5494ec19a525a854
https://doi.org/10.1002/1096-8628(20000911)94:2<91::aid-ajmg1>3.0.co;2-d -
12Academic Journal
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
Relation: 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/11379/569285; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84896383994
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13
المؤلفون: Lorenzo Pinelli, Patrizia Accorsi, Vera Uliana, Anna Molinaro, Lucio Giordano, Francesca Forzano, Irene Nazarenko, Robert J. Desnick, Lisa Edelmann, Francesca Faravelli
المساهمون: Lucio, Giordano, Robert J., Desnick, Molinaro, Anna, Vera, Uliana, Francesca, Forzano, Lisa, Edelmann, Irene, Nazarenko, Lorenzo, Pinelli, Patrizia, Accorsi, Francesca, Faravelli
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Focal facial dermal dysplasia, Setleis syndrome, TWIST2 gene, developmental delay, epilepsy, focal facial dermal dysplasias, Skin Diseases, Epilepsy, Developmental Neuroscience, Ectodermal Dysplasia, Intellectual disability, medicine, Humans, Child, business.industry, Twist-Related Protein 1, Brain, focal facial dermal dysplasia, Electroencephalography, medicine.disease, Focal Dermal Hypoplasia, Repressor Proteins, Neurology, Face, Pediatrics, Perinatology and Child Health, Arm, Neurology (clinical), business
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14
المؤلفون: Celia Moss, K.A. Ward
المصدر: British Journal of Dermatology. 130:645-649
مصطلحات موضوعية: Adult, Male, Focal facial dermal dysplasia, Dermatology, Ectodermal Dysplasia, medicine, Humans, Expressivity (genetics), Child, Eyelashes, Setleis syndrome, business.industry, Infant, Autosomal dominant trait, Syndrome, Anatomy, medicine.disease, Penetrance, Lip, Chin, Phenotype, medicine.anatomical_structure, Dysplasia, Prominent upper lip, Female, Eyebrows, business, Facial Dermatoses
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15
المؤلفون: Carola Durán-McKinster, Camilo E. Villarroel, Irina Nazarenko, Robert J. Desnick, Vanessa Bosch-Canto, Victoria del-Castillo, David E. Cervantes-Barragán, Amy Yang, Alma Medrano-Hernández
المصدر: Journal of medical genetics. 48(10)
مصطلحات موضوعية: Male, Heterozygote, Distichiasis, Nonsense mutation, Biology, Skin Diseases, Frameshift mutation, Ectodermal Dysplasia, Genetics, medicine, Humans, Facial development, Child, Frameshift Mutation, Mexico, Genetics (clinical), Eyelashes, Setleis syndrome, Autosomal recessive inheritance, Siblings, Twist-Related Protein 1, Focal Facial Dermal Dysplasias, Infant, Heterozygote advantage, medicine.disease, Phenotype, Pedigree, Focal Dermal Hypoplasia, Repressor Proteins, Face, Indians, North American, Female
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16
المؤلفون: Carmen L. Cadilla, Robert J. Desnick, Lihadh Al-Gazali, Turgut Tukel, Dražen Šošić, James A. Richardson, Monica Erazo, Hector L. Franco, Jose J Casasnovas, Eric N. Olson
مصطلحات موضوعية: Male, Candidate gene, Nonsense mutation, Molecular Sequence Data, United Arab Emirates, Locus (genetics), Biology, 03 medical and health sciences, Twist transcription factor, Mice, Report, Genetics, medicine, Animals, Humans, Genetics(clinical), Abnormalities, Multiple, Amino Acid Sequence, Gene, Genetics (clinical), 030304 developmental biology, Mice, Knockout, 0303 health sciences, Setleis syndrome, Base Sequence, 030305 genetics & heredity, Haplotype, Homozygote, Puerto Rico, Twist-Related Protein 1, Chromosome Mapping, Facies, Nuclear Proteins, Syndrome, medicine.disease, Disease gene identification, Molecular biology, Pedigree, Repressor Proteins, Phenotype, Codon, Nonsense, Child, Preschool, Female, Chromosomes, Human, Pair 3, Sequence Alignment
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17
المؤلفون: David C. Kowalski, Neil A. Fenske
المصدر: Journal of the American Academy of Dermatology. 27:575-582
مصطلحات موضوعية: Hypopigmentation, Male, Nosology, Pathology, medicine.medical_specialty, Ectodermal dysplasia, Setleis syndrome, Genetic heterogeneity, business.industry, Focal facial dermal dysplasia, Infant, Genes, Recessive, Dermatology, Elastic Tissue, medicine.disease, Ectodermal Dysplasia, Child, Preschool, medicine, Humans, Inheritance Patterns, Female, Epidermis, business, Facial Dermatoses, Hair
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18Academic Journal
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19
المؤلفون: Takahiro Okabe, Masato Tsukahara, Susumu Furukawa, Morimasa Ohtsuka
المصدر: American Journal of Medical Genetics. 57:444-446
مصطلحات موضوعية: Male, medicine, Humans, Dermatoglyphics, Child, Genetics (clinical), integumentary system, Setleis syndrome, business.industry, Syndrome, Aplasia, Anatomy, Short palpebral fissure, medicine.disease, Hyperpigmentation, body regions, stomatognathic diseases, medicine.anatomical_structure, Face, Forehead, Pectus carinatum, medicine.symptom, Palmar crease, business, Follow-Up Studies, Hair
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20
المؤلفون: Annalisa Patrizi, Vito Di Lernia, Iria Neri
المصدر: Journal of the American Academy of Dermatology. 25:389-391
مصطلحات موضوعية: Adult, Male, Ectodermal dysplasia, Pathology, medicine.medical_specialty, Setleis syndrome, business.industry, Focal facial dermal dysplasia, Congenital ectodermal dysplasia, Infant, Newborn, Dermatology, medicine.disease, Penetrance, stomatognathic diseases, Ectodermal Dysplasia, Recien nacido, Humans, Medicine, Female, Expressivity (genetics), business, Facial Dermatoses