Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.
Saved in:
| Title: | Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. |
|---|---|
| Authors: | Kolvenbach CM; Department of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Institute of Anatomy, University of Bonn, 53115 Bonn, Germany; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States., Dworschak GC; Department of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Institute of Anatomy, University of Bonn, 53115 Bonn, Germany; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany., Frese S; Department of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany., Japp AS; Institute of Neuropathology, University of Bonn Medical Center, 53127 Bonn, Germany., Schuster P; Institute of Cardiovascular Regeneration, Center for Molecular Medicine, Goethe University, 60439 Frankfurt am Main, Germany., Wenzlitschke N; Institute of Cardiovascular Regeneration, Center for Molecular Medicine, Goethe University, 60439 Frankfurt am Main, Germany., Yilmaz Ö; Institute of Anatomy, University of Bonn, 53115 Bonn, Germany., Lopes FM; Division of Cell Matrix and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centere, Manchester M13 9PT, United Kingdom., Pryalukhin A; Institute of Pathology, University Hospital Bonn, 53127 Bonn, Germany., Schierbaum L; Department of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany., van der Zanden LFM; Radboud Institute for Health Sciences, Department for Health Evidence, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands., Kause F; Department of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States., Schneider R; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States., Taranta-Janusz K; Department of Pediatrics and Nephrology, Medical University of Białystok, 15-089 Białystok, Poland., Szczepańska M; Department and Clinics of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice, 40-055 Zabrze, Poland., Pawlaczyk K; Department of Nephrology, Transplantology, and Internal Medicine, Poznan University of Medical Sciences, 61-701 Poznan, Poland., Newman WG; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom., Beaman GM; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom., Stuart HM; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom., Cervellione RM; Paediatric Urology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, United Kingdom., Feitz WFJ; Department of Urology, Pediatric Urology, Radboudumc Amalia Children's Hospital, 6525 GA Nijmegen, the Netherlands., van Rooij IALM; Radboud Institute for Health Sciences, Department for Health Evidence, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Department of Surgery-Pediatric Surgery, Radboudumc Amalia Children's Hospital, 6525 GA Nijmegen, the Netherlands., Schreuder MF; Department of Pediatric Nephrology, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Amalia Children's Hospital, 6525 GA Nijmegen, the Netherlands., Steffens M; Department of Urology, Isala, 8025 AB Zwolle, the Netherlands., Weber S; Department of Pediatrics, University Hospital Marburg, 35037 Marburg, Germany., Merz WM; Department of Obstetrics and Prenatal Medicine, University of Bonn, 53127 Bonn, Germany., Feldkötter M; Division of Pediatric Nephrology, Department of Pediatrics, University Hospital Bonn, 53129 Bonn, Germany., Hoppe B; Division of Pediatric Nephrology, Department of Pediatrics, University Hospital Bonn, 53129 Bonn, Germany., Thiele H; Cologne Center for Genomics, University of Cologne, 50391 Cologne, Germany., Altmüller J; Cologne Center for Genomics, University of Cologne, 50391 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50391 Cologne, Germany., Berg C; Department of Obstetrics and Prenatal Medicine, University of Bonn, 53127 Bonn, Germany., Kristiansen G; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom., Ludwig M; Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, 53127 Bonn, Germany., Reutter H; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, 53127 Bonn, Germany., Woolf AS; Division of Cell Matrix and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centere, Manchester M13 9PT, United Kingdom., Hildebrandt F; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States., Grote P; Institute of Cardiovascular Regeneration, Center for Molecular Medicine, Goethe University, 60439 Frankfurt am Main, Germany., Zaniew M; Department of Pediatrics, University of Zielona Góra, 56-417 Zielona Góra, Poland., Odermatt B; Institute of Anatomy, University of Bonn, 53115 Bonn, Germany; Institute of Neuro-Anatomy, University of Bonn, 53115 Bonn, Germany. Electronic address: b.odermatt@uni-bonn.de., Hilger AC; Department of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany. Electronic address: alina.hilger@uni-bonn.de. |
| Source: | American journal of human genetics [Am J Hum Genet] 2019 May 02; Vol. 104 (5), pp. 994-1006. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 31051115 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Kolvenbach+CM%22">Kolvenbach CM</searchLink>; Department of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Institute of Anatomy, University of Bonn, 53115 Bonn, Germany; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States.<br /><searchLink fieldCode="AU" term="%22Dworschak+GC%22">Dworschak GC</searchLink>; Department of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Institute of Anatomy, University of Bonn, 53115 Bonn, Germany; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Frese+S%22">Frese S</searchLink>; Department of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Japp+AS%22">Japp AS</searchLink>; Institute of Neuropathology, University of Bonn Medical Center, 53127 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Schuster+P%22">Schuster P</searchLink>; Institute of Cardiovascular Regeneration, Center for Molecular Medicine, Goethe University, 60439 Frankfurt am Main, Germany.<br /><searchLink fieldCode="AU" term="%22Wenzlitschke+N%22">Wenzlitschke N</searchLink>; Institute of Cardiovascular Regeneration, Center for Molecular Medicine, Goethe University, 60439 Frankfurt am Main, Germany.<br /><searchLink fieldCode="AU" term="%22Yilmaz+Ö%22">Yilmaz Ö</searchLink>; Institute of Anatomy, University of Bonn, 53115 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Lopes+FM%22">Lopes FM</searchLink>; Division of Cell Matrix and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centere, Manchester M13 9PT, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Pryalukhin+A%22">Pryalukhin A</searchLink>; Institute of Pathology, University Hospital Bonn, 53127 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Schierbaum+L%22">Schierbaum L</searchLink>; Department of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22van+der+Zanden+LFM%22">van der Zanden LFM</searchLink>; Radboud Institute for Health Sciences, Department for Health Evidence, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Kause+F%22">Kause F</searchLink>; Department of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States.<br /><searchLink fieldCode="AU" term="%22Schneider+R%22">Schneider R</searchLink>; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States.<br /><searchLink fieldCode="AU" term="%22Taranta-Janusz+K%22">Taranta-Janusz K</searchLink>; Department of Pediatrics and Nephrology, Medical University of Białystok, 15-089 Białystok, Poland.<br /><searchLink fieldCode="AU" term="%22Szczepańska+M%22">Szczepańska M</searchLink>; Department and Clinics of Pediatrics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia in Katowice, 40-055 Zabrze, Poland.<br /><searchLink fieldCode="AU" term="%22Pawlaczyk+K%22">Pawlaczyk K</searchLink>; Department of Nephrology, Transplantology, and Internal Medicine, Poznan University of Medical Sciences, 61-701 Poznan, Poland.<br /><searchLink fieldCode="AU" term="%22Newman+WG%22">Newman WG</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Beaman+GM%22">Beaman GM</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Stuart+HM%22">Stuart HM</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Cervellione+RM%22">Cervellione RM</searchLink>; Paediatric Urology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Feitz+WFJ%22">Feitz WFJ</searchLink>; Department of Urology, Pediatric Urology, Radboudumc Amalia Children's Hospital, 6525 GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Rooij+IALM%22">van Rooij IALM</searchLink>; Radboud Institute for Health Sciences, Department for Health Evidence, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Department of Surgery-Pediatric Surgery, Radboudumc Amalia Children's Hospital, 6525 GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Schreuder+MF%22">Schreuder MF</searchLink>; Department of Pediatric Nephrology, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Amalia Children's Hospital, 6525 GA Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Steffens+M%22">Steffens M</searchLink>; Department of Urology, Isala, 8025 AB Zwolle, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Weber+S%22">Weber S</searchLink>; Department of Pediatrics, University Hospital Marburg, 35037 Marburg, Germany.<br /><searchLink fieldCode="AU" term="%22Merz+WM%22">Merz WM</searchLink>; Department of Obstetrics and Prenatal Medicine, University of Bonn, 53127 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Feldkötter+M%22">Feldkötter M</searchLink>; Division of Pediatric Nephrology, Department of Pediatrics, University Hospital Bonn, 53129 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Hoppe+B%22">Hoppe B</searchLink>; Division of Pediatric Nephrology, Department of Pediatrics, University Hospital Bonn, 53129 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Thiele+H%22">Thiele H</searchLink>; Cologne Center for Genomics, University of Cologne, 50391 Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Altmüller+J%22">Altmüller J</searchLink>; Cologne Center for Genomics, University of Cologne, 50391 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50391 Cologne, Germany.<br /><searchLink fieldCode="AU" term="%22Berg+C%22">Berg C</searchLink>; Department of Obstetrics and Prenatal Medicine, University of Bonn, 53127 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Kristiansen+G%22">Kristiansen G</searchLink>; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester M13 9PT, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Ludwig+M%22">Ludwig M</searchLink>; Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, 53127 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Reutter+H%22">Reutter H</searchLink>; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, 53127 Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Woolf+AS%22">Woolf AS</searchLink>; Division of Cell Matrix and Regenerative Medicine, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester Academic Health Science Centere, Manchester M13 9PT, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Hildebrandt+F%22">Hildebrandt F</searchLink>; Division of Nephrology, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, United States.<br /><searchLink fieldCode="AU" term="%22Grote+P%22">Grote P</searchLink>; Institute of Cardiovascular Regeneration, Center for Molecular Medicine, Goethe University, 60439 Frankfurt am Main, Germany.<br /><searchLink fieldCode="AU" term="%22Zaniew+M%22">Zaniew M</searchLink>; Department of Pediatrics, University of Zielona Góra, 56-417 Zielona Góra, Poland.<br /><searchLink fieldCode="AU" term="%22Odermatt+B%22">Odermatt B</searchLink>; Institute of Anatomy, University of Bonn, 53115 Bonn, Germany; Institute of Neuro-Anatomy, University of Bonn, 53115 Bonn, Germany. Electronic address: b.odermatt@uni-bonn.de.<br /><searchLink fieldCode="AU" term="%22Hilger+AC%22">Hilger AC</searchLink>; Department of Pediatrics, Children's Hospital, University Hospital Bonn, 53113 Bonn, Germany; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany. Electronic address: alina.hilger@uni-bonn.de. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2019 May 02; Vol. 104 (5), pp. 994-1006. – 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="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=31051115 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.ajhg.2019.03.023 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 994 Titles: – TitleFull: Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Kolvenbach CM – PersonEntity: Name: NameFull: Dworschak GC – PersonEntity: Name: NameFull: Frese S – PersonEntity: Name: NameFull: Japp AS – PersonEntity: Name: NameFull: Schuster P – PersonEntity: Name: NameFull: Wenzlitschke N – PersonEntity: Name: NameFull: Yilmaz Ö – PersonEntity: Name: NameFull: Lopes FM – PersonEntity: Name: NameFull: Pryalukhin A – PersonEntity: Name: NameFull: Schierbaum L – PersonEntity: Name: NameFull: van der Zanden LFM – PersonEntity: Name: NameFull: Kause F – PersonEntity: Name: NameFull: Schneider R – PersonEntity: Name: NameFull: Taranta-Janusz K – PersonEntity: Name: NameFull: Szczepańska M – PersonEntity: Name: NameFull: Pawlaczyk K – PersonEntity: Name: NameFull: Newman WG – PersonEntity: Name: NameFull: Beaman GM – PersonEntity: Name: NameFull: Stuart HM – PersonEntity: Name: NameFull: Cervellione RM – PersonEntity: Name: NameFull: Feitz WFJ – PersonEntity: Name: NameFull: van Rooij IALM – PersonEntity: Name: NameFull: Schreuder MF – PersonEntity: Name: NameFull: Steffens M – PersonEntity: Name: NameFull: Weber S – PersonEntity: Name: NameFull: Merz WM – PersonEntity: Name: NameFull: Feldkötter M – PersonEntity: Name: NameFull: Hoppe B – PersonEntity: Name: NameFull: Thiele H – PersonEntity: Name: NameFull: Altmüller J – PersonEntity: Name: NameFull: Berg C – PersonEntity: Name: NameFull: Kristiansen G – PersonEntity: Name: NameFull: Ludwig M – PersonEntity: Name: NameFull: Reutter H – PersonEntity: Name: NameFull: Woolf AS – PersonEntity: Name: NameFull: Hildebrandt F – PersonEntity: Name: NameFull: Grote P – PersonEntity: Name: NameFull: Zaniew M – PersonEntity: Name: NameFull: Odermatt B – PersonEntity: Name: NameFull: Hilger AC IsPartOfRelationships: – BibEntity: Dates: – D: 02 M: 05 Text: 2019 May 02 Type: published Y: 2019 Identifiers: – Type: issn-electronic Value: 1537-6605 Numbering: – Type: volume Value: 104 – Type: issue Value: 5 Titles: – TitleFull: American journal of human genetics Type: main |
| ResultId | 1 |