SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism
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| Veröffentlicht in: | Journal of medical genetics 2004-09, Vol.41 (9), p.e113-e113 |
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| container_end_page | e113 |
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| container_issue | 9 |
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| container_title | Journal of medical genetics |
| container_volume | 41 |
| creator | Borozdin, W Boehm, D Leipoldt, M Wilhelm, C Reardon, W Clayton-Smith, J Becker, K Mühlendyck, H Winter, R Giray, Ö Silan, F Kohlhase, J |
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| doi_str_mv | 10.1136/jmg.2004.019901 |
| format | Article |
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Frei zugängliche E-Journals</source><source>PubMed Central</source><source>Alma/SFX Local Collection</source><creator>Borozdin, W ; Boehm, D ; Leipoldt, M ; Wilhelm, C ; Reardon, W ; Clayton-Smith, J ; Becker, K ; Mühlendyck, H ; Winter, R ; Giray, Ö ; Silan, F ; Kohlhase, J</creator><creatorcontrib>Borozdin, W ; Boehm, D ; Leipoldt, M ; Wilhelm, C ; Reardon, W ; Clayton-Smith, J ; Becker, K ; Mühlendyck, H ; Winter, R ; Giray, Ö ; Silan, F ; Kohlhase, J</creatorcontrib><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.2004.019901</identifier><identifier>PMID: 15342710</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>England: BMJ Publishing Group Ltd</publisher><subject>Abnormalities, Multiple - genetics ; acro-renal-ocular syndrome ; Base Sequence ; Chromosome Breakage - genetics ; Duane Retraction Syndrome - genetics ; Female ; FISH ; fluorescence in situ hybridisation ; Genes ; Genotype & phenotype ; haploinsufficiency ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Mutation ; Okihiro syndrome ; OMIM ; Online Mendelian Inheritance in Man ; Online Mutation Report ; Pedigree ; Phenotype ; Polymerase Chain Reaction ; Proteins ; SALL4 ; Sequence Deletion - genetics ; single nucleotide polymorphism ; SNP ; Syndrome ; Transcription Factors - genetics</subject><ispartof>Journal of medical genetics, 2004-09, Vol.41 (9), p.e113-e113</ispartof><rights>Copyright 2004 Journal of Medical Genetics</rights><rights>Copyright: 2004 Copyright 2004 Journal of Medical Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b4731-8f28567ed3742bf3c97ebdd2e2fd23e8e60f2e6f6f86a311cdee170f9255123</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735888/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1735888/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,315,728,781,785,886,27928,27929,53795,53797</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15342710$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Borozdin, W</creatorcontrib><creatorcontrib>Boehm, D</creatorcontrib><creatorcontrib>Leipoldt, M</creatorcontrib><creatorcontrib>Wilhelm, C</creatorcontrib><creatorcontrib>Reardon, W</creatorcontrib><creatorcontrib>Clayton-Smith, J</creatorcontrib><creatorcontrib>Becker, K</creatorcontrib><creatorcontrib>Mühlendyck, H</creatorcontrib><creatorcontrib>Winter, R</creatorcontrib><creatorcontrib>Giray, Ö</creatorcontrib><creatorcontrib>Silan, F</creatorcontrib><creatorcontrib>Kohlhase, J</creatorcontrib><title>SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><subject>Abnormalities, Multiple - genetics</subject><subject>acro-renal-ocular syndrome</subject><subject>Base Sequence</subject><subject>Chromosome Breakage - genetics</subject><subject>Duane Retraction Syndrome - genetics</subject><subject>Female</subject><subject>FISH</subject><subject>fluorescence in situ hybridisation</subject><subject>Genes</subject><subject>Genotype & phenotype</subject><subject>haploinsufficiency</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Male</subject><subject>Mutation</subject><subject>Okihiro syndrome</subject><subject>OMIM</subject><subject>Online Mendelian Inheritance in Man</subject><subject>Online Mutation Report</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Polymerase Chain Reaction</subject><subject>Proteins</subject><subject>SALL4</subject><subject>Sequence Deletion - genetics</subject><subject>single nucleotide polymorphism</subject><subject>SNP</subject><subject>Syndrome</subject><subject>Transcription Factors - 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genetics</topic><topic>acro-renal-ocular syndrome</topic><topic>Base Sequence</topic><topic>Chromosome Breakage - genetics</topic><topic>Duane Retraction Syndrome - genetics</topic><topic>Female</topic><topic>FISH</topic><topic>fluorescence in situ hybridisation</topic><topic>Genes</topic><topic>Genotype & phenotype</topic><topic>haploinsufficiency</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Male</topic><topic>Mutation</topic><topic>Okihiro syndrome</topic><topic>OMIM</topic><topic>Online Mendelian Inheritance in Man</topic><topic>Online Mutation Report</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Polymerase Chain Reaction</topic><topic>Proteins</topic><topic>SALL4</topic><topic>Sequence Deletion - genetics</topic><topic>single nucleotide polymorphism</topic><topic>SNP</topic><topic>Syndrome</topic><topic>Transcription Factors - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Borozdin, W</creatorcontrib><creatorcontrib>Boehm, D</creatorcontrib><creatorcontrib>Leipoldt, M</creatorcontrib><creatorcontrib>Wilhelm, C</creatorcontrib><creatorcontrib>Reardon, W</creatorcontrib><creatorcontrib>Clayton-Smith, J</creatorcontrib><creatorcontrib>Becker, K</creatorcontrib><creatorcontrib>Mühlendyck, H</creatorcontrib><creatorcontrib>Winter, R</creatorcontrib><creatorcontrib>Giray, Ö</creatorcontrib><creatorcontrib>Silan, F</creatorcontrib><creatorcontrib>Kohlhase, J</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - 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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Alma/SFX Local Collection |
| subjects | Abnormalities, Multiple - genetics acro-renal-ocular syndrome Base Sequence Chromosome Breakage - genetics Duane Retraction Syndrome - genetics Female FISH fluorescence in situ hybridisation Genes Genotype & phenotype haploinsufficiency Humans In Situ Hybridization, Fluorescence Male Mutation Okihiro syndrome OMIM Online Mendelian Inheritance in Man Online Mutation Report Pedigree Phenotype Polymerase Chain Reaction Proteins SALL4 Sequence Deletion - genetics single nucleotide polymorphism SNP Syndrome Transcription Factors - genetics |
| title | SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism |
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