X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems.
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| Title: | X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems. |
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| Authors: | Kolvenbach CM; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany.; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Felger T; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany., Schierbaum L; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany., Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA., Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA., Szczepańska M; Department of Pediatrics, Faculty of Medical Sciences, Medical University of Silesia in Katowice, Zabrze, Poland., Zaniew M; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland., Adamczyk P; Department of Pediatrics, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland., Bayat A; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Yilmaz Ö; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany., Lindenberg TT; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany., Thiele H; Cologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, Cologne, Germany., Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Hinderhofer K; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Moog U; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany., Hilger AC; Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.; Research Center On Rare Kidney Diseases (RECORD), University Hospital Erlangen, Erlangen, Germany., Sullivan B; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA., Bartik L; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA., Gnyś P; Medeor Hospital, Department of Genetics, Lodz, Poland., Grote P; Institute of Cardiovascular Regeneration, Center for Molecular Medicine, Goethe University, Frankfurt am Main, Germany.; Georg-Speyer-Haus, Institute for Tumor Biology and Experimental Therapy, Frankfurt am Main, Germany., Odermatt B; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany., Reutter HM; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany., Dworschak GC; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany gabriel.dworschak@uni-bonn.de.; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Department of Neuropediatrics, University Hospital Bonn, Bonn, Germany. |
| Source: | Journal of medical genetics [J Med Genet] 2023 Jun; Vol. 60 (6), pp. 587-596. Date of Electronic Publication: 2022 Nov 15. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 36379543 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Kolvenbach+CM%22">Kolvenbach CM</searchLink>; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany.; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Felger+T%22">Felger T</searchLink>; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Schierbaum+L%22">Schierbaum L</searchLink>; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Thiffault+I%22">Thiffault I</searchLink>; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Pastinen+T%22">Pastinen T</searchLink>; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Szczepańska+M%22">Szczepańska M</searchLink>; Department of Pediatrics, Faculty of Medical Sciences, Medical University of Silesia in Katowice, Zabrze, Poland.<br /><searchLink fieldCode="AU" term="%22Zaniew+M%22">Zaniew M</searchLink>; Department of Pediatrics, University of Zielona Góra, Zielona Góra, Poland.<br /><searchLink fieldCode="AU" term="%22Adamczyk+P%22">Adamczyk P</searchLink>; Department of Pediatrics, Faculty of Medical Sciences, Medical University of Silesia, Katowice, Poland.<br /><searchLink fieldCode="AU" term="%22Bayat+A%22">Bayat A</searchLink>; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.<br /><searchLink fieldCode="AU" term="%22Yilmaz+Ö%22">Yilmaz Ö</searchLink>; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Lindenberg+TT%22">Lindenberg TT</searchLink>; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Thiele+H%22">Thiele H</searchLink>; Cologne Center for Genomics (CCG), Faculty of Medicine, University Hospital Cologne, University of Cologne, Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Hildebrandt+F%22">Hildebrandt F</searchLink>; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Hinderhofer+K%22">Hinderhofer K</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Moog+U%22">Moog U</searchLink>; Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Hilger+AC%22">Hilger AC</searchLink>; Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.; Research Center On Rare Kidney Diseases (RECORD), University Hospital Erlangen, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Sullivan+B%22">Sullivan B</searchLink>; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Bartik+L%22">Bartik L</searchLink>; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Gnyś+P%22">Gnyś P</searchLink>; Medeor Hospital, Department of Genetics, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Grote+P%22">Grote P</searchLink>; Institute of Cardiovascular Regeneration, Center for Molecular Medicine, Goethe University, Frankfurt am Main, Germany.; Georg-Speyer-Haus, Institute for Tumor Biology and Experimental Therapy, Frankfurt am Main, Germany.<br /><searchLink fieldCode="AU" term="%22Odermatt+B%22">Odermatt B</searchLink>; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Reutter+HM%22">Reutter HM</searchLink>; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg, Erlangen, Germany.<br /><searchLink fieldCode="AU" term="%22Dworschak+GC%22">Dworschak GC</searchLink>; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, Germany gabriel.dworschak@uni-bonn.de.; Institute of Human Genetics, Medical Faculty, University of Bonn, Bonn, Germany.; Department of Neuropediatrics, University Hospital Bonn, Bonn, Germany. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%222985087R%22">Journal of medical genetics</searchLink> [J Med Genet] 2023 Jun; Vol. 60 (6), pp. 587-596. <i>Date of Electronic Publication: </i>2022 Nov 15. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22British+Medical+Association%22">British Medical Association </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>2985087R <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1468-6244 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200222593%22">00222593 </searchLink><i>NLM ISO Abbreviation: </i>J Med Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36379543 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1136/jmg-2022-108738 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 587 Titles: – TitleFull: X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Kolvenbach CM – PersonEntity: Name: NameFull: Felger T – PersonEntity: Name: NameFull: Schierbaum L – PersonEntity: Name: NameFull: Thiffault I – PersonEntity: Name: NameFull: Pastinen T – PersonEntity: Name: NameFull: Szczepańska M – PersonEntity: Name: NameFull: Zaniew M – PersonEntity: Name: NameFull: Adamczyk P – PersonEntity: Name: NameFull: Bayat A – PersonEntity: Name: NameFull: Yilmaz Ö – PersonEntity: Name: NameFull: Lindenberg TT – PersonEntity: Name: NameFull: Thiele H – PersonEntity: Name: NameFull: Hildebrandt F – PersonEntity: Name: NameFull: Hinderhofer K – PersonEntity: Name: NameFull: Moog U – PersonEntity: Name: NameFull: Hilger AC – PersonEntity: Name: NameFull: Sullivan B – PersonEntity: Name: NameFull: Bartik L – PersonEntity: Name: NameFull: Gnyś P – PersonEntity: Name: NameFull: Grote P – PersonEntity: Name: NameFull: Odermatt B – PersonEntity: Name: NameFull: Reutter HM – PersonEntity: Name: NameFull: Dworschak GC IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: 2023 Jun Type: published Y: 2023 Identifiers: – Type: issn-electronic Value: 1468-6244 Numbering: – Type: volume Value: 60 – Type: issue Value: 6 Titles: – TitleFull: Journal of medical genetics Type: main |
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