يعرض 1 - 10 نتائج من 30 نتيجة بحث عن '"Brian P Brooks"', وقت الاستعلام: 0.71s تنقيح النتائج
  1. 1
    Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB–Mediated Autoinflammatory Disease with Retinal Dystrophy

    المؤلفون: Laryssa A. Huryn, Christina Torres Kozycki, Jasmine Y. Serpen, Wadih M. Zein, Ehsan Ullah, Alessandro Iannaccone, Lloyd B. Williams, Lucia Sobrin, Brian P. Brooks, H. Nida Sen, Robert B. Hufnagel, Daniel L. Kastner, Shilpa Kodati

    المصدر: Ophthalmology. 130:423-432

    مصطلحات موضوعية: Ophthalmology

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8ff71891de88a4947bf7e4cfd3daede7Test
    https://doi.org/10.1016/j.ophtha.2022.10.026Test


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  2. 2
    In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells

    المؤلفون: Kamil, Kruczek, Zepeng, Qu, Emily, Welby, Hiroko, Shimada, Suja, Hiriyanna, Milton A, English, Wadih M, Zein, Brian P, Brooks, Anand, Swaroop

    المصدر: Stem Cell Reports. 17:2172-2186

    مصطلحات موضوعية: Cytoskeletal Proteins, Calmodulin, Antigens, Neoplasm, Mutation, Genetics, Humans, Calmodulin-Binding Proteins, Cell Cycle Proteins, Cell Biology, Retinal Pigments, Biochemistry, Ciliopathies, Developmental Biology

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa4d00b274ad2fa011aa359daa92838aTest
    https://doi.org/10.1016/j.stemcr.2022.08.006Test


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  3. 3
    Review of evidence for environmental causes of uveal coloboma

    المؤلفون: Evan B. Selzer, Delphine Blain, Robert B. Hufnagel, Philip J. Lupo, Laura E. Mitchell, Brian P. Brooks

    المصدر: Surv Ophthalmol

    مصطلحات موضوعية: Coloboma, Ophthalmology, Choroid, Pregnancy, Humans, Female, Article, Retina

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dede12e5b061ae83ba5fe34bd5098e6dTest
    https://doi.org/10.1016/j.survophthal.2021.12.008Test


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  4. 4
    Genotypic and Phenotypic Spectrum of Foveal Hypoplasia

    المؤلفون: Helen J. Kuht, Gail D.E. Maconachie, Jinu Han, Line Kessel, Maria M. van Genderen, Rebecca J. McLean, Michael Hisaund, Zhanhan Tu, Richard W. Hertle, Karen Gronskov, Dayong Bai, Aihua Wei, Wei Li, Yonghong Jiao, Vasily Smirnov, Jae-Hwan Choi, Martin D. Tobin, Viral Sheth, Ravi Purohit, Basu Dawar, Ayesha Girach, Sasha Strul, Laura May, Fred K. Chen, Rachael C. Heath Jeffery, Abdullah Aamir, Ronaldo Sano, Jing Jin, Brian P. Brooks, Susanne Kohl, Benoit Arveiler, Lluis Montoliu, Elizabeth C. Engle, Frank A. Proudlock, Garima Nishad, Prateek Pani, Girish Varma, Irene Gottlob, Mervyn G. Thomas

    المصدر: Ophthalmology. 129:708-718

    مصطلحات موضوعية: Ophthalmology

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0c0059ea27383e7a2b23c16f05d31c34Test
    https://doi.org/10.1016/j.ophtha.2022.02.010Test


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  5. 5
    Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis

    المؤلفون: Nicholas Owen, Maria Toms, Rodrigo M. Young, Jonathan Eintracht, Hajrah Sarkar, Brian P. Brooks, Mariya Moosajee, J.C. Ambrose, E.L. Baple, M. Bleda, F. Boardman-Pretty, J.M. Boissiere, C.R. Boustred, M.J. Caulfield, G.C. Chan, C.E.H. Craig, L.C. Daugherty, Burca A. de, A. Devereau, G. Elgar, R.E. Foulger, T. Fowler, P. Furió-Tarí, J.M. Hackett, D. Halai, J.E. Holman, T.J.P. Hubbard, R. Jackson, D. Kasperaviciute, M. Kayikci, L. Lahnstein, K. Lawson, S.E.A. Leigh, I.U.S. Leong, F.J. Lopez, F. Maleady-Crowe, J. Mason, E.M. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A.C. Need, C.A. Odhams, C. Patch, D. Perez-Gil, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R.H. Scott, A. Siddiq, A. Sieghart, D. Smedley, K.R. Smith, A. Sosinsky, W. Spooner, H.E. Stevens, A. Stuckey, R. Sultana, E.R.A. Thomas, S.R. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S.A. Watters, M.J. Welland, E. Williams, K. Witkowska, S.M. Wood, M. Zarowiecki

    المصدر: Genetics in Medicine. 24:1073-1084

    مصطلحات موضوعية: Ankyrins, Coloboma, Mice, Phenotype, Animals, Humans, Microphthalmos, Genetic Testing, Bone Morphogenetic Protein Receptors, Type I, Zebrafish, Genetics (clinical)

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2abcc2c448dd2359acc7f64e01c39af8Test
    https://doi.org/10.1016/j.gim.2021.12.014Test


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  6. 6
    Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids

    المؤلفون: Ananya Samanta, James Gentry, Kamil Kruczek, Zepeng Qu, Benjamin R. Fadl, Brian P. Brooks, Colin J Chu, Zhijian Wu, Zachary Batz, Linn Gieser, Laura Campello, Suja Hiriyanna, Anand Swaroop, Mugdha Samant

    المصدر: Stem Cell Reports
    Kruczek, K, Qu, Z, Gentry, J, Fadl, B R, Gieser, L, Hiriyanna, S, Batz, Z, Samant, M, Samanta, A, Chu, C J, Campello, L, Brooks, B P, Wu, Z & Swaroop, A 2021, ' Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids ', Stem Cell Reports, vol. 16, no. 2, pp. 252-263 . https://doi.org/10.1016/j.stemcr.2020.12.018Test

    مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Opsin, genetic structures, Genetic enhancement, Leber Congenital Amaurosis, medicine.disease_cause, Biochemistry, chemistry.chemical_compound, 0302 clinical medicine, disease modeling, Child, Induced pluripotent stem cell, transcription factor, Mutation, iPSC, Cell Differentiation, AAV, Dependovirus, Organoids, Phenotype, Child, Preschool, Female, Single-Cell Analysis, pluripotent stem cells, Stem cell, Adult, Induced Pluripotent Stem Cells, 3-D organoids, Biology, Models, Biological, Retina, Article, 03 medical and health sciences, scRNA-seq, Genetics, medicine, Humans, Photoreceptor Cells, Homeodomain Proteins, therapy, Opsins, Sequence Analysis, RNA, Retinal, Genetic Therapy, Cell Biology, medicine.disease, eye diseases, 030104 developmental biology, chemistry, Trans-Activators, retinal degeneration, Cancer research, Homeobox, sense organs, Transcriptome, transcriptome, 030217 neurology & neurosurgery, Developmental Biology

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6a0a53897ea69bd6cee97b109036be2Test
    https://doi.org/10.1016/j.stemcr.2020.12.018Test


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  7. 7
    Reply

    المؤلفون: Malena, Daich Varela, Brian P, Brooks

    المصدر: Ophthalmology. 128:e214-e215

    مصطلحات موضوعية: Ophthalmology

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49d81e8613ce627c7bffed2cb411fb9cTest
    https://doi.org/10.1016/j.ophtha.2021.07.022Test


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  8. 8
    Newborn screening and optimized hydroxocobalamin and dietary therapy lead to improved neurocognitive outcomes in early onset cobalamin C deficiency

    المؤلفون: Wadih M. Zein, Irini Manoli, Susan Ferry, Jennifer Myles, Oleg A. Shchelochkov, Laryssa A. Huryn, Sho Yano, Charles P. Venditti, Joseph Snow, Carol Van Ryzin, Jennifer L. Sloan, Audrey Thurm, Brian P. Brooks

    المصدر: Molecular Genetics and Metabolism. 132:S1-S2

    مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Hydroxocobalamin, Biochemistry, Cobalamin, chemistry.chemical_compound, Endocrinology, chemistry, Genetics, Medicine, Dietary therapy, business, Lead (electronics), Molecular Biology, Neurocognitive, medicine.drug, Early onset

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::576dec4f1b57146edf6495414568a8d6Test
    https://doi.org/10.1016/s1096-7192Test(21)00089-5


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  9. 9
    151 Complex phenotypes in trichothiodystrophy patients with XPD (ERCC2) mutations

    المؤلفون: Sikandar G. Khan, Kenneth H. Kraemer, Jennifer Boyle, N. Mendelsohn, Deborah Tamura, Melissa A. Merideth, M. Sarihan, J.J. DiGiovanna, Brian P. Brooks, J. Jeskey, E.H. Rizza

    المصدر: Journal of Investigative Dermatology. 141:S27

    مصطلحات موضوعية: Genetics, Trichothiodystrophy, medicine, ERCC2, Cell Biology, Dermatology, Biology, medicine.disease, Molecular Biology, Biochemistry, Phenotype

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::37aaca638504ec77aec82b82fa02a7acTest
    https://doi.org/10.1016/j.jid.2021.02.171Test


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  10. 10
    In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations

    المؤلفون: Meral Gunay-Aygun, Hiroko Shimada, Christopher J. Westlake, Artur V. Cideciyan, Milton A. English, Kunio Nagashima, Tiansen Li, Anand Swaroop, Quanlong Lu, Brian P. Brooks, Christine Insinna-Kettenhofen, Elizabeth M. Semler, Samuel G. Jacobson, Tiziana Cogliati, Jacklyn Mahgerefteh

    المصدر: Cell Reports, Vol 20, Iss 2, Pp 384-396 (2017)

    مصطلحات موضوعية: 0301 basic medicine, genetic structures, Hedgehog signaling, Cell Cycle Proteins, Ciliopathies, Receptors, G-Protein-Coupled, Mice, 0302 clinical medicine, Induced pluripotent stem cell, lcsh:QH301-705.5, Mice, Knockout, iPSC, ADP-Ribosylation Factors, LCA, Cilium, Homozygote, Smoothened Receptor, Hedgehog signaling pathway, Neoplasm Proteins, Cell biology, Adenylyl Cyclases, Cell signaling, organoid, Biology, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, primary cilia, Antigens, Neoplasm, Joubert syndrome, Ciliogenesis, medicine, Animals, Humans, Hedgehog Proteins, Cilia, Alleles, Fibroblasts, medicine.disease, eye diseases, Cytoskeletal Proteins, Ciliopathy, 030104 developmental biology, lcsh:Biology (General), Mutation, retinal degeneration, ciliopathies, ciliary transition zone, sense organs, Smoothened, ciliogenesis, 030217 neurology & neurosurgery

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd613ec86ac5d639be83bfc56b39b754Test
    https://doi.org/10.1016/j.celrep.2017.06.045Test


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