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Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.

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Title: Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.
Authors: Szafranski P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Liu Q; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Karolak JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland., Song X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., de Leeuw N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Faas B; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Gerychova R; Department of Obstetrics and Gynecology, Masaryk University and University Hospital Brno, Brno, Czech Republic., Janku P; Department of Obstetrics and Gynecology, Masaryk University and University Hospital Brno, Brno, Czech Republic.; Department of Nursing and Midwifery, Masaryk University, Brno, Czech Republic., Jezova M; Department of Pathology, Masaryk University and University Hospital Brno, Brno, Czech Republic., Valaskova I; Department of Medical Genetics, Masaryk University and University Hospital Brno, Brno, Czech Republic., Gibbs KA; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Surrey LF; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, Philadelphia, PA, USA., Poisson V; CHU Sainte-Justine, Montreal, Québec, Canada.; Department of Pediatrics, Université de Montréal, Montreal, Québec, Canada., Bérubé D; CHU Sainte-Justine, Montreal, Québec, Canada.; Department of Pediatrics, Université de Montréal, Montreal, Québec, Canada., Oligny LL; CHU Sainte-Justine, Montreal, Québec, Canada.; Department of Pathology, Université de Montréal, Montreal, Québec, Canada., Michaud JL; CHU Sainte-Justine, Montreal, Québec, Canada.; Department of Pediatrics, Université de Montréal, Montreal, Québec, Canada., Popek E; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA., Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. pawels@bcm.edu.
Source: Human genetics [Hum Genet] 2019 Dec; Vol. 138 (11-12), pp. 1301-1311. Date of Electronic Publication: 2019 Nov 04.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.
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  Data: <searchLink fieldCode="AU" term="%22Szafranski+P%22">Szafranski P</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Liu+Q%22">Liu Q</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Karolak+JA%22">Karolak JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Poznan, Poland.<br /><searchLink fieldCode="AU" term="%22Song+X%22">Song X</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22de+Leeuw+N%22">de Leeuw N</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Faas+B%22">Faas B</searchLink>; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Gerychova+R%22">Gerychova R</searchLink>; Department of Obstetrics and Gynecology, Masaryk University and University Hospital Brno, Brno, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Janku+P%22">Janku P</searchLink>; Department of Obstetrics and Gynecology, Masaryk University and University Hospital Brno, Brno, Czech Republic.; Department of Nursing and Midwifery, Masaryk University, Brno, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Jezova+M%22">Jezova M</searchLink>; Department of Pathology, Masaryk University and University Hospital Brno, Brno, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Valaskova+I%22">Valaskova I</searchLink>; Department of Medical Genetics, Masaryk University and University Hospital Brno, Brno, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Gibbs+KA%22">Gibbs KA</searchLink>; Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Surrey+LF%22">Surrey LF</searchLink>; Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Poisson+V%22">Poisson V</searchLink>; CHU Sainte-Justine, Montreal, Québec, Canada.; Department of Pediatrics, Université de Montréal, Montreal, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Bérubé+D%22">Bérubé D</searchLink>; CHU Sainte-Justine, Montreal, Québec, Canada.; Department of Pediatrics, Université de Montréal, Montreal, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Oligny+LL%22">Oligny LL</searchLink>; CHU Sainte-Justine, Montreal, Québec, Canada.; Department of Pathology, Université de Montréal, Montreal, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Michaud+JL%22">Michaud JL</searchLink>; CHU Sainte-Justine, Montreal, Québec, Canada.; Department of Pediatrics, Université de Montréal, Montreal, Québec, Canada.<br /><searchLink fieldCode="AU" term="%22Popek+E%22">Popek E</searchLink>; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Stankiewicz+P%22">Stankiewicz P</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. pawels@bcm.edu.
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  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2019 Dec; Vol. 138 (11-12), pp. 1301-1311. <i>Date of Electronic Publication: </i>2019 Nov 04.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE
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