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High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

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Title: High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Authors: Rojnueangnit K; Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.; Department of Pediatrics, Faculty of Medicine, Thammasat University, Bangkok, Thailand., Xie J; Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama., Gomes A; Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama., Sharp A; Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama., Callens T; Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama., Chen Y; Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama., Liu Y; Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama., Cochran M; Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama., Abbott MA; Department of Pediatrics, Tufts University School of Medicine, Springfield, Massachusetts., Atkin J; Section of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, Ohio., Babovic-Vuksanovic D; Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota., Barnett CP; Pediatric and Reproductive Genetics, SA Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, North Adelaide, South Australia and Discipline of Pediatrics, University of Adelaide, Adelaide, Australia., Crenshaw M; Department of Clinical Genetics, All Children's Hospital, John Hopkins Medicine and Department of Pediatrics, John Hopkins University School of Medicine, Baltimore, Maryland., Bartholomew DW; Section of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, Ohio., Basel L; Raphael Recanati Genetics Institute, Beilinson Campus and Schneider Children's Medical Center of Israel/Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva, Israel and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Bellus G; Department of Clinical Genetics and Metabolism, Children's Hospital, University of Colorado, Denver-Aurora, Colorado., Ben-Shachar S; The Genetic Institute, Tel-Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel-Aviv, Israel., Bialer MG; Department of Pediatrics, North Shore LIJ Health System, Manhasset, New York., Bick D; Section of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin., Blumberg B; Kaiser Permanente Oakland, Oakland, California., Cortes F; Center for Rare Diseases, Clinica Las Condes, Santiago, Chile., David KL; Department of Medicine, Division of Genetics, New York Methodist Hospital, Brooklyn, New York., Destree A; Institute of Pathology and Genetics (IPG), Gosselies, Belgium., Duat-Rodriguez A; Department of Neuropediatrics, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Earl D; Department of Pediatrics, Division of Genetic Medicine, University of Washington, and Seattle Children's Hospital, Seattle, Washington., Escobar L; Medical Genetics and Neurodevelopment Center, St Vincent Children's Hospital, Indianapolis, Indiana., Eswara M; Sutter Memorial Hospital, Sacramento, California., Ezquieta B; Department of Biochemistry, Hospital Universitario Gregorio Marañón, Institute of Health Research (IiSGM), Madrid, Spain., Frayling IM; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Frydman M; Chaim Sheba Medical Center, Tel Hashomer, Israel., Gardner K; Department of Neurology, Veterans Administration Hospital of Pittsburgh and University of Pittsburgh, Pittsburgh, Pennsylvania., Gripp KW; Division of Medical Genetics, AI duPont Hospital for Children, Wilmington, Delaware., Hernández-Chico C; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS). Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain., Heyrman K; Children's Health Center-Pediatrics, Appleton, Wisconsin., Ibrahim J; St. Joseph's Children's Hospital, Paterson, New Jersey., Janssens S; Center for Medical Genetics, Ghent University Hospital, Gent, Belgium., Keena BA; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania., Llano-Rivas I; Department of Genetics, Hospital Universitario Cruces, BioCruces Health Research Institute, Biscay, Spain., Leppig K; Genetic Services, Group Health Cooperative and Department of Pathology, University of Washington, Seattle, Washington., McDonald M; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina., Misra VK; Department of Pediatrics, Division of Genetics and Metabolic Disorders, The Wayne State University School of Medicine, Detroit, Michigan., Mulbury J; Department of Pediatrics and Neurology, University of Rochester Medical center, Rochester, New York., Narayanan V; Dorrance Center for Rare Childhood Disorders, Translational Genomics Research Institute (TGen), Phoenix, Arizona., Orenstein N; Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel., Galvin-Parton P; Stony Brook Children's, Stony Brook Medicine, Stony Brook, New York., Pedro H; Medical Genetics, Hackensack University Medical Center, Hackensack, New Jersey., Pivnick EK; Department of Pediatrics, Division of Medical Genetics and Department of Ophthalmology University of Tennessee Health Science Center and Le Bonheur Children's Hospita l, Memphis, Tennessee., Powell CM; Department of Pediatrics, University of North Carolina, Chapel Hill, North Carolina., Randolph L; Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, California., Raskin S; Group for Advanced Molecular Investigation (NIMA), School of Health and Biosciences, Pontificia Universidade Catolica do Parana (PUCPR), Curibita, Brasil., Rosell J; Genetics Service, Hospital Son Espases, Palma de Mallorca, Spain., Rubin K; University of Minnesota Children's Hospital, Minneapolis, Minnesota., Seashore M; Department of Pediatrics and Genetics, Yale School of Medicine, New Haven, Connecticut., Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Scheuerle A; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas., Schultz M; Nationwide Children's Hospital, Columbus, Ohio., Schorry E; Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio., Schnur R; Division of Genetics, Cooper Medical School of Rowan University, Camden, New Jersey., Siqveland E; Children's Hospitals and Clinics of Minnesota, Minneapolis, Minnesota., Tkachuk A; Department of Clinical Genetics and Metabolism, Children's Hospital, University of Colorado, Denver-Aurora, Colorado., Tonsgard J; Departments of Pediatrics and Neurology, University of Chicago/Pritzker School of Medicine, Chicago, Illinois., Upadhyaya M; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK., Verma IC; Department of Genetic Medicine, Sri Ganga Ram Hospital, New Delhi, India., Wallace S; Department of Pediatrics, Division of Genetic Medicine, University of Washington, and Seattle Children's Hospital, Seattle, Washington., Williams C; Department of Pediatrics, Division of Genetics and Metabolism, University of Florida, Gainesville, Florida., Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania., Zonana J; Departments of Pediatrics and Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon., Lazaro C; Molecular Diagnostics Unit, Hereditary Cancer Program, Catalan Institute of Oncology (ICO-IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain., Claes K; Center for Medical Genetics, Ghent University Hospital, Gent, Belgium., Korf B; Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama., Martin Y; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS). Center for Biomedical Research-Network of Rare Diseases (CIBERER), Madrid, Spain., Legius E; Department of Human Genetics, KU Leuven, Leuven, Belgium., Messiaen L; Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.
Source: Human mutation [Hum Mutat] 2015 Nov; Vol. 36 (11), pp. 1052-63. Date of Electronic Publication: 2015 Aug 21.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
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  Data: High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
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Department of Clinical Genetics and Metabolism, Children's Hospital, University of Colorado, Denver-Aurora, Colorado.<br /><searchLink fieldCode="AU" term="%22Ben-Shachar+S%22">Ben-Shachar S</searchLink>; The Genetic Institute, Tel-Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel-Aviv, Israel.<br /><searchLink fieldCode="AU" term="%22Bialer+MG%22">Bialer MG</searchLink>; Department of Pediatrics, North Shore LIJ Health System, Manhasset, New York.<br /><searchLink fieldCode="AU" term="%22Bick+D%22">Bick D</searchLink>; Section of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin.<br /><searchLink fieldCode="AU" term="%22Blumberg+B%22">Blumberg B</searchLink>; Kaiser Permanente Oakland, Oakland, California.<br /><searchLink fieldCode="AU" term="%22Cortes+F%22">Cortes F</searchLink>; Center for Rare Diseases, Clinica Las Condes, Santiago, Chile.<br /><searchLink fieldCode="AU" term="%22David+KL%22">David KL</searchLink>; Department of Medicine, Division of Genetics, New York Methodist Hospital, Brooklyn, New York.<br /><searchLink fieldCode="AU" term="%22Destree+A%22">Destree A</searchLink>; 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Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.<br /><searchLink fieldCode="AU" term="%22Frydman+M%22">Frydman M</searchLink>; Chaim Sheba Medical Center, Tel Hashomer, Israel.<br /><searchLink fieldCode="AU" term="%22Gardner+K%22">Gardner K</searchLink>; Department of Neurology, Veterans Administration Hospital of Pittsburgh and University of Pittsburgh, Pittsburgh, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Gripp+KW%22">Gripp KW</searchLink>; Division of Medical Genetics, AI duPont Hospital for Children, Wilmington, Delaware.<br /><searchLink fieldCode="AU" term="%22Hernández-Chico+C%22">Hernández-Chico C</searchLink>; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS). 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Department of Pediatrics, Division of Genetics and Metabolism, University of Florida, Gainesville, Florida.<br /><searchLink fieldCode="AU" term="%22Zackai+E%22">Zackai E</searchLink>; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania.<br /><searchLink fieldCode="AU" term="%22Zonana+J%22">Zonana J</searchLink>; Departments of Pediatrics and Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon.<br /><searchLink fieldCode="AU" term="%22Lazaro+C%22">Lazaro C</searchLink>; Molecular Diagnostics Unit, Hereditary Cancer Program, Catalan Institute of Oncology (ICO-IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Claes+K%22">Claes K</searchLink>; Center for Medical Genetics, Ghent University Hospital, Gent, Belgium.<br /><searchLink fieldCode="AU" term="%22Korf+B%22">Korf B</searchLink>; Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.<br /><searchLink fieldCode="AU" term="%22Martin+Y%22">Martin Y</searchLink>; Department of Genetics, Hospital Universitario Ramón y Cajal, Institute of Health Research (IRYCIS). 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      – TitleFull: High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
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    IsPartOfRelationships:
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          Dates:
            – D: 01
              M: 11
              Text: 2015 Nov
              Type: published
              Y: 2015
          Identifiers:
            – Type: issn-electronic
              Value: 1098-1004
          Numbering:
            – Type: volume
              Value: 36
            – Type: issue
              Value: 11
          Titles:
            – TitleFull: Human mutation
              Type: main
ResultId 1