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Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

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Title: Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Authors: Wojcik MH; Division of Newborn Medicine, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Agrawal PB; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, Miller School of Medicine, University of Miami and Holtz Children's Hospital, Jackson Health System, Miami, Florida, USA., Balci TB; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada., Callewaert B; Center for Medical Genetics, Pediatrics Department, Ghent University Hospital, Ghent, Belgium., Calvo PL; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy., Carli D; Department of Public Health and Pediatrics, University of Torino, Torino, Italy., Caudle M; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada., Colaiacovo S; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada., Cross L; Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA., Demetriou K; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia., Drazba K; Greenwood Genetic Center, Greenwood, South Carolina, USA., Dutra-Clarke M; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA., Edwards M; Paediatrics, School of Medicine, Western Sydney University, Hunter Genetics, Newcastle, New South Wales, Australia., Genetti CA; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA., Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Isidor B; Department of Medical Genetics, Nantes Hospital, Nantes, France., Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France., Lachman HM; Departments of Behavioral Science, Medicine, and Psychiatry, Albert Einstein College of Medicine, Bronx, New York, USA., Lavillaureix A; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, CHU Rennes, Hôpital Sud, Rennes, France., Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Marcelis C; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands., Marco EJ; Cortica Healthcare, Marin Center, San Rafael, California, USA., Martinez-Agosto JA; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA., Nowak C; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA., Pizzol A; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy., Planes M; Service de Génétique Clinique, University Hospital Morvan, Brest, France., Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Riberi E; Department of Public Health and Pediatrics, University of Torino, Torino, Italy., Rush ET; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA.; Division of Genetics, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, Missouri, USA., Russell BE; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA., Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Schmalz B; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California, USA., Wilson K; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Jansen S; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands., de Vries BBA; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands., Curry CJ; Genetic Medicine, Department of Pediatrics, University of California San Francisco/Fresno, Fresno, California, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jul; Vol. 191 (7), pp. 1900-1910. Date of Electronic Publication: 2023 May 14.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
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  Data: <searchLink fieldCode="AU" term="%22Wojcik+MH%22">Wojcik MH</searchLink>; Division of Newborn Medicine, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Srivastava+S%22">Srivastava S</searchLink>; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Agrawal+PB%22">Agrawal PB</searchLink>; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, Miller School of Medicine, University of Miami and Holtz Children's Hospital, Jackson Health System, Miami, Florida, USA.<br /><searchLink fieldCode="AU" term="%22Balci+TB%22">Balci TB</searchLink>; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Callewaert+B%22">Callewaert B</searchLink>; Center for Medical Genetics, Pediatrics Department, Ghent University Hospital, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Calvo+PL%22">Calvo PL</searchLink>; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Carli+D%22">Carli D</searchLink>; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Caudle+M%22">Caudle M</searchLink>; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Colaiacovo+S%22">Colaiacovo S</searchLink>; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Cross+L%22">Cross L</searchLink>; Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Demetriou+K%22">Demetriou K</searchLink>; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Drazba+K%22">Drazba K</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Dutra-Clarke+M%22">Dutra-Clarke M</searchLink>; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Edwards+M%22">Edwards M</searchLink>; Paediatrics, School of Medicine, Western Sydney University, Hunter Genetics, Newcastle, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Genetti+CA%22">Genetti CA</searchLink>; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Grange+DK%22">Grange DK</searchLink>; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Hickey+SE%22">Hickey SE</searchLink>; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Department of Medical Genetics, Nantes Hospital, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Küry+S%22">Küry S</searchLink>; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Lachman+HM%22">Lachman HM</searchLink>; Departments of Behavioral Science, Medicine, and Psychiatry, Albert Einstein College of Medicine, Bronx, New York, USA.<br /><searchLink fieldCode="AU" term="%22Lavillaureix+A%22">Lavillaureix A</searchLink>; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, CHU Rennes, Hôpital Sud, Rennes, France.<br /><searchLink fieldCode="AU" term="%22Lyons+MJ%22">Lyons MJ</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Marcelis+C%22">Marcelis C</searchLink>; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Marco+EJ%22">Marco EJ</searchLink>; Cortica Healthcare, Marin Center, San Rafael, California, USA.<br /><searchLink fieldCode="AU" term="%22Martinez-Agosto+JA%22">Martinez-Agosto JA</searchLink>; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.<br /><searchLink fieldCode="AU" term="%22Nowak+C%22">Nowak C</searchLink>; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.<br /><searchLink fieldCode="AU" term="%22Pizzol+A%22">Pizzol A</searchLink>; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.<br /><searchLink fieldCode="AU" term="%22Planes+M%22">Planes M</searchLink>; Service de Génétique Clinique, University Hospital Morvan, Brest, France.<br /><searchLink fieldCode="AU" term="%22Prijoles+EJ%22">Prijoles EJ</searchLink>; Greenwood Genetic Center, Greenwood, South Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Riberi+E%22">Riberi E</searchLink>; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Rush+ET%22">Rush ET</searchLink>; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA.; Division of Genetics, Children's Mercy Kansas City, Kansas City, Missouri, USA.; 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Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California, USA.<br /><searchLink fieldCode="AU" term="%22Wilson+K%22">Wilson K</searchLink>; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Jansen+S%22">Jansen S</searchLink>; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Vries+BBA%22">de Vries BBA</searchLink>; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Curry+CJ%22">Curry CJ</searchLink>; Genetic Medicine, Department of Pediatrics, University of California San Francisco/Fresno, Fresno, California, USA.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2023 Jul; Vol. 191 (7), pp. 1900-1910. <i>Date of Electronic Publication: </i>2023 May 14.
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