نتائج البحث - "Brian P Brooks"

101

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

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

102

Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations

المصدر: The American Journal of Human Genetics. 96:913-925

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86853cacd1a3ff9c131a15c41d2fab50Test
https://doi.org/10.1016/j.ajhg.2015.04.013Test

103

A novel iris transillumination grading scale allowing flexible assessment with quantitative image analysis and visual matching

المؤلفون: Adam Hedberg-Buenz, Wadih M. Zein, William A. Gahl, Denise Cunningham, Zaheer M. Valivullah, David R. Adams, Bradley Power, Michael G. Anderson, Dimitre R. Simeonov, Chen Wang, Brian P. Brooks, Flavia Brancusi

المصدر: Ophthalmic genetics. 39(1)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b527ff65e3ea69ab998a42a228cd73ecTest
https://pubmed.ncbi.nlm.nih.gov/28742462Test

104

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5

المؤلفون: Laryssa A. Huryn, Tadafumi Yokoyama, Elena-Raluca Nicoli, Bernadette R. Gochuico, Kevin J. O'Brien, Dong Chen, Brian P. Brooks, David R. Adams, Steve Titus, Nathanial J. Tolman, Joshi Stephen, William A. Gahl, May Christine V. Malicdan

المصدر: PLoS ONE, Vol 12, Iss 3, p e0173682 (2017)
PLoS ONE

مصطلحات موضوعية: 0301 basic medicine, Proband, Viral Diseases, lcsh:Medicine, Artificial Gene Amplification and Extension, medicine.disease_cause, Polymerase Chain Reaction, White Blood Cells, 0302 clinical medicine, Animal Cells, hemic and lymphatic diseases, Medicine and Health Sciences, Alveolar Macrophages, lcsh:Science, Connective Tissue Cells, Staining, Mutation, Multidisciplinary, integumentary system, Cell Staining, Oculocutaneous albinism, Phenotypes, Infectious Diseases, Connective Tissue, Hermanski-Pudlak Syndrome, 030220 oncology & carcinogenesis, Cellular Structures and Organelles, Cellular Types, Anatomy, Research Article, Neglected Tropical Diseases, Albinism, Immune Cells, Immunology, HPS5, Biology, Hantavirus Pulmonary Syndrome, Research and Analysis Methods, 03 medical and health sciences, Organelle, medicine, Intronic Mutation, Genetics, Humans, Molecular Biology Techniques, Molecular Biology, Blood Cells, lcsh:R, Biology and Life Sciences, Cell Biology, Fibroblasts, medicine.disease, Tropical Diseases, Molecular biology, eye diseases, Bleeding diathesis, 030104 developmental biology, Biological Tissue, Specimen Preparation and Treatment, lcsh:Q, Hermansky–Pudlak syndrome, Lysosomes

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a72467ef3638fb23baa248d295b0db53Test
http://europepmc.org/articles/PMC5351877?pdf=renderTest

105

دورية أكاديمية

Delineation Of Natural History For Spinocerebellar Ataxia Type 7 (SCA-7) In Anticipation Of Rnai Therapy

المؤلفون: Steven F. Stasheff, Brett Jeffrey, Wadih Zein, Catherine Cukras, Kenneth H. Fischbeck, Mark Hallett, Albert La Spada, Brian P. Brooks

المساهمون: Steven F. Stasheff, Brett Jeffrey, Wadih Zein, Catherine Cukras, Kenneth H. Fischbeck, Mark Hallett, Albert La Spada, Brian P. Brooks

المصدر: 2015 North American Neuro-Ophthalmology Society Annual Meeting

مصطلحات موضوعية: Neuro-Ophth & Systyemic Disease, Genetic Disease, Retina, Optic Neuropathy, Diagnostic Tests

وصف الملف: application/pdf

العلاقة: NANOS 2015: Poster Presentations; Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.eduTest; 20150222_nanos_posters_247; https://collections.lib.utah.edu/ark:/87278/s6v72rgtTest

الإتاحة: https://collections.lib.utah.edu/ark:/87278/s6v72rgtTest

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