Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice.
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| Title: | Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. |
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| Authors: | Muggenthaler MM; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom., Chowdhury B; Department of Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Hasan SN; Department of Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Cross HE; Department of Ophthalmology, University of Arizona College of Medicine, Tucson, Arizona, United States of America., Mark B; Department of Microbiology, University of Manitoba, Winnipeg, Manitoba, Canada., Harlalka GV; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom., Patton MA; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom.; Genetics Research Centre, St George's University London, London, United Kingdom., Ishida M; Genetics and Genomic Medicine, UCL Institute of Child Health, London, United Kingdom., Behr ER; Cardiovascular Sciences Research Centre, St George's University of London, London, United Kingdom., Sharma S; Cardiovascular Sciences Research Centre, St George's University of London, London, United Kingdom., Zahka K; Pediatric Cardiology, Cleveland Clinic, Cleveland, Ohio, United States of America., Faqeih E; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Blakley B; Department of Otolaryngology, University of Manitoba, Winnipeg, Manitoba, Canada., Jackson M; Department of Small Animal and Materials Imaging Facility, University of Manitoba, Winnipeg, Manitoba, Canada., Lees M; Department of Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom., Dolinsky V; Pharmacology & Therapeutics, University of Manitoba, Winnipeg, Manitoba, Canada.; Pediatrics & Child Health, University of Manitoba, Winnipeg, Manitoba, Canada., Cross L; Windows of Hope Genetic Information Centre, Holmes County, Ohio, United States of America., Stanier P; Genetics and Genomic Medicine, UCL Institute of Child Health, London, United Kingdom., Salter C; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, United Kingdom., Baple EL; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Crosby AH; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom., Triggs-Raine B; Department of Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.; Pediatrics & Child Health, University of Manitoba, Winnipeg, Manitoba, Canada.; Manitoba Institute of Child Health, Winnipeg, Manitoba, Canada., Chioza BA; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom. |
| Source: | PLoS genetics [PLoS Genet] 2017 Jan 12; Vol. 13 (1), pp. e1006470. Date of Electronic Publication: 2017 Jan 12 (Print Publication: 2017). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 28081210 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Muggenthaler+MM%22">Muggenthaler MM</searchLink>; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Chowdhury+B%22">Chowdhury B</searchLink>; Department of Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.<br /><searchLink fieldCode="AU" term="%22Hasan+SN%22">Hasan SN</searchLink>; Department of Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.<br /><searchLink fieldCode="AU" term="%22Cross+HE%22">Cross HE</searchLink>; Department of Ophthalmology, University of Arizona College of Medicine, Tucson, Arizona, United States of America.<br /><searchLink fieldCode="AU" term="%22Mark+B%22">Mark B</searchLink>; Department of Microbiology, University of Manitoba, Winnipeg, Manitoba, Canada.<br /><searchLink fieldCode="AU" term="%22Harlalka+GV%22">Harlalka GV</searchLink>; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Patton+MA%22">Patton MA</searchLink>; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom.; Genetics Research Centre, St George's University London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ishida+M%22">Ishida M</searchLink>; Genetics and Genomic Medicine, UCL Institute of Child Health, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Behr+ER%22">Behr ER</searchLink>; Cardiovascular Sciences Research Centre, St George's University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Sharma+S%22">Sharma S</searchLink>; Cardiovascular Sciences Research Centre, St George's University of London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Zahka+K%22">Zahka K</searchLink>; Pediatric Cardiology, Cleveland Clinic, Cleveland, Ohio, United States of America.<br /><searchLink fieldCode="AU" term="%22Faqeih+E%22">Faqeih E</searchLink>; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Blakley+B%22">Blakley B</searchLink>; Department of Otolaryngology, University of Manitoba, Winnipeg, Manitoba, Canada.<br /><searchLink fieldCode="AU" term="%22Jackson+M%22">Jackson M</searchLink>; Department of Small Animal and Materials Imaging Facility, University of Manitoba, Winnipeg, Manitoba, Canada.<br /><searchLink fieldCode="AU" term="%22Lees+M%22">Lees M</searchLink>; Department of Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Dolinsky+V%22">Dolinsky V</searchLink>; Pharmacology & Therapeutics, University of Manitoba, Winnipeg, Manitoba, Canada.; Pediatrics & Child Health, University of Manitoba, Winnipeg, Manitoba, Canada.<br /><searchLink fieldCode="AU" term="%22Cross+L%22">Cross L</searchLink>; Windows of Hope Genetic Information Centre, Holmes County, Ohio, United States of America.<br /><searchLink fieldCode="AU" term="%22Stanier+P%22">Stanier P</searchLink>; Genetics and Genomic Medicine, UCL Institute of Child Health, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Salter+C%22">Salter C</searchLink>; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Baple+EL%22">Baple EL</searchLink>; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Alkuraya+FS%22">Alkuraya FS</searchLink>; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Crosby+AH%22">Crosby AH</searchLink>; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Triggs-Raine+B%22">Triggs-Raine B</searchLink>; Department of Biochemistry & Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.; Pediatrics & Child Health, University of Manitoba, Winnipeg, Manitoba, Canada.; Manitoba Institute of Child Health, Winnipeg, Manitoba, Canada.<br /><searchLink fieldCode="AU" term="%22Chioza+BA%22">Chioza BA</searchLink>; RILD Wellcome Wolfson Centre, University of Exeter Medical School, Exeter, United Kingdom. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101239074%22">PLoS genetics</searchLink> [PLoS Genet] 2017 Jan 12; Vol. 13 (1), pp. e1006470. <i>Date of Electronic Publication: </i>2017 Jan 12 (<i>Print Publication: </i>2017). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Public+Library+of+Science%22">Public Library of Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101239074 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1553-7404 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215537390%22">15537390 </searchLink><i>NLM ISO Abbreviation: </i>PLoS Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=28081210 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1371/journal.pgen.1006470 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e1006470 Titles: – TitleFull: Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Muggenthaler MM – PersonEntity: Name: NameFull: Chowdhury B – PersonEntity: Name: NameFull: Hasan SN – PersonEntity: Name: NameFull: Cross HE – PersonEntity: Name: NameFull: Mark B – PersonEntity: Name: NameFull: Harlalka GV – PersonEntity: Name: NameFull: Patton MA – PersonEntity: Name: NameFull: Ishida M – PersonEntity: Name: NameFull: Behr ER – PersonEntity: Name: NameFull: Sharma S – PersonEntity: Name: NameFull: Zahka K – PersonEntity: Name: NameFull: Faqeih E – PersonEntity: Name: NameFull: Blakley B – PersonEntity: Name: NameFull: Jackson M – PersonEntity: Name: NameFull: Lees M – PersonEntity: Name: NameFull: Dolinsky V – PersonEntity: Name: NameFull: Cross L – PersonEntity: Name: NameFull: Stanier P – PersonEntity: Name: NameFull: Salter C – PersonEntity: Name: NameFull: Baple EL – PersonEntity: Name: NameFull: Alkuraya FS – PersonEntity: Name: NameFull: Crosby AH – PersonEntity: Name: NameFull: Triggs-Raine B – PersonEntity: Name: NameFull: Chioza BA IsPartOfRelationships: – BibEntity: Dates: – D: 12 M: 01 Text: 2017 Jan 12 Type: published Y: 2017 Identifiers: – Type: issn-electronic Value: 1553-7404 Numbering: – Type: volume Value: 13 – Type: issue Value: 1 Titles: – TitleFull: PLoS genetics Type: main |
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