Publications by authors named "Mary Ella Pierpont"

40Publications

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973139PMC
January 2020

Emotional functioning among children with neurofibromatosis type 1 or Noonan syndrome.

Am J Med Genet A 2019 12 30;179(12):2433-2446. Epub 2019 Sep 30.

Division of Clinical Behavioral Neuroscience, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota.

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http://dx.doi.org/10.1002/ajmg.a.61361DOI Listing
December 2019

Hereditary Angiopathy With Nephropathy, Aneurysm, and Muscle Cramps (HANAC) Syndrome Presenting to Neuro-Ophthalmology With Metamorphopsia.

J Neuroophthalmol 2019 12;39(4):506-510

Department of Ophthalmology and Visual Neurosciences (MAJ, MEP, RHJ, MSL, CMM), University of Minnesota School of Medicine, Minneapolis, Minnesota; Division of Genetics and Metabolism (MEP), Department of Pediatrics, University of Minnesota School of Medicine, Minneapolis, Minnesota; and Edina Retina Consultants, PA (RHJ), Edina, Minnesota.

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http://dx.doi.org/10.1097/WNO.0000000000000812DOI Listing
December 2019

Somatic Mosaicism in a Male Patient With X-linked Alport Syndrome.

Kidney Int Rep 2019 Jul 14;4(7):1031-1035. Epub 2019 Mar 14.

Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, Minnesota, USA.

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http://dx.doi.org/10.1016/j.ekir.2019.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6609819PMC
July 2019

Cardiac transplantation in children with Noonan syndrome.

Pediatr Transplant 2019 09 1;23(6):e13535. Epub 2019 Jul 1.

Department of Pediatrics, University of Colorado School of Medicine, Children's Hospital Colorado, Aurora, Colorado.

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http://dx.doi.org/10.1111/petr.13535DOI Listing
September 2019

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

Cardiovascular disease in Noonan syndrome.

Curr Opin Pediatr 2018 10;30(5):601-608

Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1097/MOP.0000000000000669DOI Listing
October 2018

Social skills in children with RASopathies: a comparison of Noonan syndrome and neurofibromatosis type 1.

J Neurodev Disord 2018 06 18;10(1):21. Epub 2018 Jun 18.

Division of Pediatric Hematology and Oncology, Department of Pediatrics, University of Minnesota, Mayo Mail Code 484, 420 Delaware Street SE, Mayo Mail Code 486, Minneapolis, MN, 55455, USA.

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http://dx.doi.org/10.1186/s11689-018-9239-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006579PMC
June 2018

Restrictive cardiomyopathy: an unusual phenotype of a lamin A variant.

ESC Heart Fail 2018 08 9;5(4):724-726. Epub 2018 May 9.

Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, MN, USA.

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http://dx.doi.org/10.1002/ehf2.12294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073024PMC
August 2018

Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.

Am J Med Genet A 2017 May 23;173(5):1342-1347. Epub 2017 Mar 23.

Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.

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http://dx.doi.org/10.1002/ajmg.a.38110DOI Listing
May 2017

Variability in clinical and neuropsychological features of individuals with MAP2K1 mutations.

Am J Med Genet A 2017 Feb 14;173(2):452-459. Epub 2016 Nov 14.

Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.

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http://dx.doi.org/10.1002/ajmg.a.38044DOI Listing
February 2017

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).

J Bone Miner Res 2017 04 14;32(4):757-769. Epub 2016 Dec 14.

Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO, USA.

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http://dx.doi.org/10.1002/jbmr.3034DOI Listing
April 2017

Children with Thoracic Aortic Aneurysm: Challenges in Diagnosis and Therapy.

J Pediatr 2015 Jul 25;167(1):14-6. Epub 2015 Apr 25.

Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1016/j.jpeds.2015.03.056DOI Listing
July 2015

Atenolol versus losartan in children and young adults with Marfan's syndrome.

N Engl J Med 2014 Nov 18;371(22):2061-71. Epub 2014 Nov 18.

From Boston Children's Hospital, Boston (R.V.L., S.D.C., E.S.S.T., J.C.L.); Johns Hopkins University School of Medicine, Baltimore (H.C.D.); New England Research Institutes, Watertown, MA (L.A.S., S.D.C., S.C., G.L.K.); Primary Children's Hospital and the University of Utah, Salt Lake City (A.T.Y.); Hospital for Sick Children, Toronto (T.J.B., E.R.); National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD (G.D.P., V.L.P., M.P.S.); Medical University of South Carolina, Charleston (A.M.A.); Cincinnati Children's Medical Center, Cincinnati (D.W.B.); Washington University School of Medicine, St. Louis (A.C.B., A.M.S.); Ghent University Hospital, Ghent, Belgium (J.D.B., B.L.L.); Icahn School of Medicine at Mount Sinai (B.D.G.), Children's Hospital of New York (W.W.L.), and Weill Medical College of Cornell University (M.J.R.) - all in New York; Rady Children's Hospital, University of California, San Diego (P.D.G.); Texas Children's Hospital, Houston (A.L.); Vanderbilt University School of Medicine, Nashville (L.W.M.); Seattle Children's Hospital, Seattle (A.K.O.); Children's Hospital of Philadelphia (S.M.P.) and the University of Pennsylvania (R.E.P.), Philadelphia; Children's Hospital and Clinics of Minnesota, Minneapolis (M.E.P.); Duke University Medical Center, Durham, NC (S.B.W.); Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago (L.T.Y.); and the University of Texas Southwestern Medical Center, Dallas (L.M.).

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http://dx.doi.org/10.1056/NEJMoa1404731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386623PMC
November 2014

The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome.

Am J Med Genet A 2011 Feb 13;155A(2):363-6. Epub 2011 Jan 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.33844DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3092288PMC
February 2011

Noonan syndrome: clinical features, diagnosis, and management guidelines.

Pediatrics 2010 Oct 27;126(4):746-59. Epub 2010 Sep 27.

Department of Pediatrics, Munger Pavilion, Room 123, New York Medical College, Valhalla, NY 10595, USA.

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http://dx.doi.org/10.1542/peds.2009-3207DOI Listing
October 2010

A novel microdeletion/microduplication syndrome of 19p13.13.

Genet Med 2010 Aug;12(8):503-11

Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181e59291DOI Listing
August 2010

Is there an association between bicuspid aortic valve and neuroblastoma?

Pediatr Blood Cancer 2010 Aug;55(2):359-60

Department of Pediatric Hematology/Oncology, University of Minnesota, Minneapolis, Minnesota, USA.

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http://dx.doi.org/10.1002/pbc.22539DOI Listing
August 2010

The language phenotype of children and adolescents with Noonan syndrome.

J Speech Lang Hear Res 2010 Aug 11;53(4):917-32. Epub 2010 Jun 11.

Department of Psychology, University of Wisconsin-Madison, 1202 West Johnson Street, Madison, WI 53706, USA.

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http://dx.doi.org/10.1044/1092-4388(2009/09-0046)DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3086511PMC
August 2010

Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome.

Hum Mutat 2008 Jan;29(1):83-90

Department of Orthopaedic Surgery, Washington University School of Medicine, St. Louis, Missouri, USA.

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http://doi.wiley.com/10.1002/humu.20603
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http://dx.doi.org/10.1002/humu.20603DOI Listing
January 2008