Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype
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Mendeley | Further Information

{"title"=>"Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype", "type"=>"journal", "authors"=>[{"first_name"=>"Stephen C.", "last_name"=>"Collins", "scopus_author_id"=>"57198427480"}, {"first_name"=>"Brad", "last_name"=>"Coffee", "scopus_author_id"=>"6506096048"}, {"first_name"=>"Paul J.", "last_name"=>"Benke", "scopus_author_id"=>"7003320350"}, {"first_name"=>"Elizabeth", "last_name"=>"Berry-Kravis", "scopus_author_id"=>"7003985402"}, {"first_name"=>"Fred", "last_name"=>"Gilbert", "scopus_author_id"=>"7101783396"}, {"first_name"=>"Ben", "last_name"=>"Oostra", "scopus_author_id"=>"7102229127"}, {"first_name"=>"Dicky", "last_name"=>"Halley", "scopus_author_id"=>"16935014300"}, {"first_name"=>"Michael E.", "last_name"=>"Zwick", "scopus_author_id"=>"7007024749"}, {"first_name"=>"David J.", "last_name"=>"Cutler", "scopus_author_id"=>"35354177500"}, {"first_name"=>"Stephen T.", "last_name"=>"Warren", "scopus_author_id"=>"7401492590"}], "year"=>2010, "source"=>"PLoS ONE", "identifiers"=>{"issn"=>"19326203", "sgr"=>"77949711819", "scopus"=>"2-s2.0-77949711819", "isbn"=>"1932-6203 (Electronic)\\r1932-6203 (Linking)", "pui"=>"358499000", "doi"=>"10.1371/journal.pone.0009476", "pmid"=>"20221430"}, "id"=>"edf65e37-6245-3bf1-9310-92b1893350f2", "abstract"=>"Fragile X syndrome (FXS) is caused by loss of function mutations in the FMR1 gene. Trinucleotide CGG-repeat expansions, resulting in FMR1 gene silencing, are the most common mutations observed at this locus. Even though the repeat expansion mutation is a functional null mutation, few conventional mutations have been identified at this locus, largely due to the clinical laboratory focus on the repeat tract.", "link"=>"http://www.mendeley.com/research/arraybased-fmr1-sequencing-deletion-analysis-patients-fragile-x-syndromelike-phenotype", "reader_count"=>21, "reader_count_by_academic_status"=>{"Professor > Associate Professor"=>1, "Researcher"=>5, "Student > Ph. D. Student"=>7, "Other"=>2, "Student > Master"=>2, "Student > Bachelor"=>3, "Professor"=>1}, "reader_count_by_user_role"=>{"Professor > Associate Professor"=>1, "Researcher"=>5, "Student > Ph. D. Student"=>7, "Other"=>2, "Student > Master"=>2, "Student > Bachelor"=>3, "Professor"=>1}, "reader_count_by_subject_area"=>{"Nursing and Health Professions"=>1, "Biochemistry, Genetics and Molecular Biology"=>1, "Medicine and Dentistry"=>4, "Agricultural and Biological Sciences"=>12, "Neuroscience"=>1, "Psychology"=>1, "Computer Science"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>4}, "Neuroscience"=>{"Neuroscience"=>1}, "Psychology"=>{"Psychology"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>12}, "Computer Science"=>{"Computer Science"=>1}, "Nursing and Health Professions"=>{"Nursing and Health Professions"=>1}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>1}}, "reader_count_by_country"=>{"Portugal"=>1}, "group_count"=>1}

Scopus | Further Information

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/860030"], "description"=>"<p>P-values reflect the result of Fisher's exact tests.</p>", "links"=>[], "tags"=>["polymorphisms", "fmr1"], "article_id"=>530482, "categories"=>["Medicine", "Genetics"], "users"=>["Stephen C. Collins", "Brad Coffee", "Paul J. Benke", "Elizabeth Berry-Kravis", "Fred Gilbert", "Ben Oostra", "Dicky Halley", "Michael E. Zwick", "David J. Cutler", "Stephen T. Warren"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0009476.t002", "stats"=>{"downloads"=>0, "page_views"=>3, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Detection_of_known_polymorphisms_in_FMR1_by_array_resequencing_/530482", "title"=>"Detection of known polymorphisms in FMR1 by array resequencing.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-02-21 02:23:08"}
  • {"files"=>["https://ndownloader.figshare.com/files/859858"], "description"=>"<p>The horizontal axis is formed by intronic sequence, and the numbered vertical spokes represent the 17 exons of <i>FMR1</i>. Coding exonic sequence is shown in blue, while noncoding exonic sequence is shown in white. The black region upstream of exon 1 is the minimal promoter of <i>FMR1</i>. The grey bars represent the four LR-PCR amplicons used for sequencing. The green boxes represent the <i>FMR1</i> regions sequenced with the custom resequencing array.</p>", "links"=>[], "tags"=>["resequencing"], "article_id"=>530299, "categories"=>["Medicine", "Genetics"], "users"=>["Stephen C. Collins", "Brad Coffee", "Paul J. Benke", "Elizabeth Berry-Kravis", "Fred Gilbert", "Ben Oostra", "Dicky Halley", "Michael E. Zwick", "David J. Cutler", "Stephen T. Warren"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0009476.g001", "stats"=>{"downloads"=>0, "page_views"=>6, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Targeted_resequencing_of_FMR1_/530299", "title"=>"Targeted resequencing of <i>FMR1</i>.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-02-21 02:22:04"}
  • {"files"=>["https://ndownloader.figshare.com/files/859988"], "description"=>"<p>Patients enrolled as FXS-like exhibited at least two of these characteristics.</p>", "links"=>[], "tags"=>["characteristics", "fxs-like"], "article_id"=>530438, "categories"=>["Medicine", "Genetics"], "users"=>["Stephen C. Collins", "Brad Coffee", "Paul J. Benke", "Elizabeth Berry-Kravis", "Fred Gilbert", "Ben Oostra", "Dicky Halley", "Michael E. Zwick", "David J. Cutler", "Stephen T. Warren"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0009476.t001", "stats"=>{"downloads"=>0, "page_views"=>5, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Phenotypic_characteristics_of_FXS_like_patients_/530438", "title"=>"Phenotypic characteristics of FXS-like patients.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-02-21 02:22:55"}
  • {"files"=>["https://ndownloader.figshare.com/files/859923"], "description"=>"<p>Western blot of lymphoblastoid cell lysate from a healthy control, a fragile X patient, and a patient harboring a novel deletion in the 5′UTR of <i>FMR1</i>. The protein eIF4e was assessed as a loading control.</p>", "links"=>[], "tags"=>["genetics and genomics/genetics of disease", "genetics and genomics/medical genetics", "pediatrics and child health/developmental and pediatric neurology"], "article_id"=>530374, "categories"=>["Medicine", "Genetics"], "users"=>["Stephen C. Collins", "Brad Coffee", "Paul J. Benke", "Elizabeth Berry-Kravis", "Fred Gilbert", "Ben Oostra", "Dicky Halley", "Michael E. Zwick", "David J. Cutler", "Stephen T. Warren"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0009476.g002", "stats"=>{"downloads"=>0, "page_views"=>2, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_FMRP_expression_in_control_and_fragile_X_tissues_/530374", "title"=>"FMRP expression in control and fragile X tissues.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-02-21 02:22:30"}
  • {"files"=>["https://ndownloader.figshare.com/files/860064"], "description"=>"<p>Novel FMR1 sequence variants identified in FXS-like males.</p>", "links"=>[], "tags"=>["fmr1", "variants", "fxs-like"], "article_id"=>530519, "categories"=>["Medicine", "Genetics"], "users"=>["Stephen C. Collins", "Brad Coffee", "Paul J. Benke", "Elizabeth Berry-Kravis", "Fred Gilbert", "Ben Oostra", "Dicky Halley", "Michael E. Zwick", "David J. Cutler", "Stephen T. Warren"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0009476.t003", "stats"=>{"downloads"=>8, "page_views"=>15, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Novel_FMR1_sequence_variants_identified_in_FXS_like_males_/530519", "title"=>"Novel FMR1 sequence variants identified in FXS-like males.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-02-21 02:23:22"}

PMC Usage Stats | Further Information

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Relative Metric

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