Punita Gupta

Punita Gupta

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Punita Gupta

Punita Gupta

Publications by authors named "Punita Gupta"

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12Publications

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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 Jan 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
January 2020

Brugada syndrome & AKAP9: Reconciling clinical findings with diagnostic uncertainty.

J Electrocardiol 2019 Nov - Dec;57:119-121. Epub 2019 Sep 7.

Department of Cardiology, St. Joseph's Health, New York Medical College, Paterson, NJ, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jelectrocard.2019.09.013DOI Listing
September 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

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
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
March 2019

Pharmacological treatment of pediatric Gaucher disease.

Expert Rev Clin Pharmacol 2018 Dec 3;11(12):1183-1194. Epub 2018 Dec 3.

b Department of Medicine (Genetics) , University College Dublin , Dublin , Ireland.

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http://dx.doi.org/10.1080/17512433.2018.1549486DOI Listing
December 2018

Spotlight on taliglucerase alfa in the treatment of pediatric patients with type 1 Gaucher disease.

Pediatric Health Med Ther 2017 16;8:73-81. Epub 2017 Jun 16.

National Center for Inherited Metabolic Disorders, Mater Misericordiae University Hospital, University College Dublin, Dublin, Ireland.

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http://dx.doi.org/10.2147/PHMT.S93634DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5774592PMC
June 2017

Orphan drug development.

Pediatr Endocrinol Rev 2013 Nov;11 Suppl 1:64-7

Department of Neurology and Pediatrics, NYU School of Medicine, New York, NY, USA.

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November 2013

Nerve atrophy in severe trigeminal neuralgia: noninvasive confirmation at MR imaging--initial experience.

Radiology 2006 Feb;238(2):689-92

Department of Radiology, Tufts-New England Medical Center, 750 Washington St, Boston, MA 02467, USA.

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http://dx.doi.org/10.1148/radiol.2382042214DOI Listing
February 2006

Association between neurovascular contact on MRI and response to gamma knife radiosurgery in trigeminal neuralgia.

Neuroradiology 2006 Jan 20;48(1):26-30. Epub 2005 Oct 20.

Department of Radiology, Tufts-New England Medical Center, 750 Washington St., Boston, MA 02111, USA.

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http://dx.doi.org/10.1007/s00234-005-0008-5DOI Listing
January 2006

The Golden S sign.

Authors:
Punita Gupta

Radiology 2004 Dec;233(3):790-1

New England Medical Center, 750 Washington St, Box 299, Boston, MA 02111, USA.

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http://dx.doi.org/10.1148/radiol.2333021407DOI Listing
December 2004

The growing teratoma syndrome.

Pediatr Radiol 2004 Mar 10;34(3):259-62. Epub 2003 Oct 10.

Department of Radiology, The Floating Hospital for Children, Boston, MA, USA.

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http://dx.doi.org/10.1007/s00247-003-1045-zDOI Listing
March 2004