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    Wyświetlanie 1-7 z 7
    Tytuł:
    Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
    Autorzy:
    Biswas P; Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America.; School of Biotechnology, REVA University, Bengaluru, Karnataka, India.
    Villanueva AL; Retina and Genomics Institute, Yucatán, México.; Laboratoire de Diagnostic Moleculaire, Hôpital Maisonneuve Rosemont, Montreal, Quebec, Canada.
    Soto-Hermida A; Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America.
    Duncan JL; Ophthalmology, University of California San Francisco, San Francisco, California, United States of America.
    Matsui H; Institute for Genomic Medicine, University of California, San Diego, La Jolla, California, United States of America.
    Borooah S; Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America.
    Kurmanov B; Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America.
    Richard G; GeneDx, Gaithersburg, Maryland, United States of America.
    Khan SY; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
    Branham K; Ophthalmology & Visual Science, University of Michigan Kellogg Eye Center, Ann Arbor, Michigan, United States of America.
    Huang B; Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America.
    Suk J; Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America.
    Bakall B; Ophthalmology, University of Arizona College of Medicine Phoenix, Phoenix, Arizona, United States of America.
    Goldberg JL; Byers Eye Institute, Stanford, Palo Alto, California, United States of America.
    Gabriel L; Genetics and Ophthalmology, Genelabor, Goiânia, Brazil.
    Khan NW; Ophthalmology & Visual Science, University of Michigan Kellogg Eye Center, Ann Arbor, Michigan, United States of America.
    Raghavendra PB; School of Biotechnology, REVA University, Bengaluru, Karnataka, India.; School of Regenerative Medicine, Manipal University, Bengaluru, Karnataka, India.
    Zhou J; Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America.
    Devalaraja S; Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America.
    Huynh A; Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America.
    Alapati A; Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America.
    Zawaydeh Q; Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America.
    Weleber RG; Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, United States of America.
    Heckenlively JR; Ophthalmology & Visual Science, University of Michigan Kellogg Eye Center, Ann Arbor, Michigan, United States of America.
    Hejtmancik JF; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States of America.
    Riazuddin S; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan.
    Sieving PA; National Eye Institute, Bethesda, Maryland, United States of America.; Ophthalmology & Vision Science, UC Davis Medical Center, California, United States of America.
    Riazuddin SA; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States of America.
    Frazer KA; Institute for Genomic Medicine, University of California, San Diego, La Jolla, California, United States of America.; Department of Pediatrics, Rady Children's Hospital, Division of Genome Information Sciences, San Diego, California, United States of America.
    Ayyagari R; Shiley Eye Institute, University of California San Diego, La Jolla, California, United States of America.
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    Źródło:
    PLoS genetics [PLoS Genet] 2021 Oct 18; Vol. 17 (10), pp. e1009848. Date of Electronic Publication: 2021 Oct 18 (Print Publication: 2021).
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural
    MeSH Terms:
    Ethnicity/*genetics
    Retinal Degeneration/*genetics
    Consanguinity ; DNA Mutational Analysis/methods ; Exome/genetics ; Eye Proteins/genetics ; Female ; Genetic Association Studies/methods ; Genetic Linkage/genetics ; Genotype ; Humans ; Male ; Mexico ; Mutation/genetics ; Pakistan ; Pedigree ; Retina/pathology ; Exome Sequencing/methods ; Whole Genome Sequencing/methods
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.
    Autorzy:
    Maranhao B; Department of Ophthalmology, University of California La Jolla, La Jolla, CA, United States of America.
    Biswas P; Department of Ophthalmology, University of California La Jolla, La Jolla, CA, United States of America.
    Gottsch AD; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, United States of America.
    Navani M; Department of Ophthalmology, University of California La Jolla, La Jolla, CA, United States of America.
    Naeem MA; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
    Suk J; Department of Ophthalmology, University of California La Jolla, La Jolla, CA, United States of America.
    Chu J; Department of Ophthalmology, University of California La Jolla, La Jolla, CA, United States of America.
    Khan SN; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
    Poleman R; Department of Ophthalmology, University of California La Jolla, La Jolla, CA, United States of America.
    Akram J; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan; National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
    Riazuddin S; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan; Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan; National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Islamabad, Pakistan.
    Lee P; Department of Ophthalmology, University of California La Jolla, La Jolla, CA, United States of America.
    Riazuddin SA; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, United States of America; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
    Hejtmancik JF; OGVF branch, National Eye Institute, NIH, Bethesda, MD, United States of America.
    Ayyagari R; Department of Ophthalmology, University of California La Jolla, La Jolla, CA, United States of America.
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    Źródło:
    PloS one [PLoS One] 2015 Sep 09; Vol. 10 (9), pp. e0136561. Date of Electronic Publication: 2015 Sep 09 (Print Publication: 2015).
    Typ publikacji:
    Journal Article; Research Support, N.I.H., Extramural
    MeSH Terms:
    Mutation*
    Ethnicity/*genetics
    Exome/*genetics
    Retinal Degeneration/*genetics
    Age of Onset ; Consanguinity ; Electroretinography ; Eye Proteins/genetics ; Female ; Fundus Oculi ; Genes, Recessive ; Genetic Association Studies ; Genotype ; Humans ; Male ; Pakistan ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide ; RNA, Messenger/genetics ; Retinal Degeneration/ethnology ; Sequence Alignment ; Sequence Analysis, RNA
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree
    Autorzy:
    Biswas, Pooja
    Naeem, Muhammad Asif
    Ali, Muhammad Hassaan
    Assir, Muhammad Zaman
    Khan, Shaheen N.
    Riazuddin, SheikhAff13, Aff14, Aff15
    Hejtmancik, J. Fielding
    Riazuddin, S. Amer
    Ayyagari, Radha
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    Źródło:
    Retinal Degenerative Diseases : Mechanisms and Experimental Therapy. 1074:219-228
    Książka elektroniczna
    Szczegóły
    Tytuł:
    Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3–p21.2 between D1S2896 and D1S457 but outside ABCA4.
    Autorzy:
    Qingjiong Zhang
    Zulfiqar, Fareeha
    Xueshan Xiao
    Riazuddin, S. Amer
    Ayyagari, Radha
    Sabar, Farooq
    Caruso, Raphael
    Sieving, Paul A.
    Riazuddin, Sheikh
    Hejtmancik, J. Fielding
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    Temat:
    RETINITIS pigmentosa
    USHER'S syndrome
    RETINAL degeneration
    GENOMES
    NUCLEOTIDE sequence
    GENE mapping
    HUMAN genetics
    Źródło:
    Human Genetics; Dec2005, Vol. 118 Issue 3/4, p356-365, 10p, 1 Color Photograph, 1 Diagram, 3 Charts, 1 Graph
    Czasopismo naukowe
    Szczegóły
    Tytuł:
    A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa
    Autorzy:
    Li, Lin
    Nakaya, Naoki
    Chavali, Venkata R.M.
    Ma, Zhiwei
    Jiao, Xiaodong
    Sieving, Paul A.
    Riazuddin, Sheikh
    Tomarev, Stanislav I.
    Ayyagari, Radha
    Riazuddin, S. Amer
    Hejtmancik, J. Fielding
    Pokaż więcej
    Temat:
    GENETIC mutation
    ZINC-finger proteins
    PHOTORECEPTORS
    RETINITIS pigmentosa
    RETINAL degeneration
    NIGHT blindness
    TRANSCRIPTION factors
    Źródło:
    American Journal of Human Genetics. Sep2010, Vol. 87 Issue 3, p400-409. 10p.
    Czasopismo naukowe
    Szczegóły
      Wyświetlanie 1-7 z 7

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