Rosemarie Smith

Rosemarie Smith

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Rosemarie Smith

Rosemarie Smith

Publications by authors named "Rosemarie Smith"

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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

Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.

Am J Med Genet A 2014 Jul 3;164A(7):1795-801. Epub 2014 Apr 3.

Cytogenetics and Genomic Microarray, ARUP Laboratories, Salt Lake City, Utah; Department of Pathology, University of Utah, Salt Lake City, Utah.

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http://dx.doi.org/10.1002/ajmg.a.36524DOI Listing
July 2014

Second-trimester prenasal and prefrontal skin thickening - association with MECP2 triplication syndrome.

J Clin Ultrasound 2013 Sep 6;41(7):434-7. Epub 2013 Jun 6.

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, ME 04102, USA.

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http://dx.doi.org/10.1002/jcu.22065DOI Listing
September 2013

Stepwise sequential aneuploidy screening in clinical practice.

J Clin Ultrasound 2012 Jan 21;40(1):26-30. Epub 2011 Nov 21.

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, Portland, ME, USA.

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http://dx.doi.org/10.1002/jcu.20898DOI Listing
January 2012

Prenatal sonographic features of dyssegmental dysplasia Rolland-Desbuquois type.

J Clin Ultrasound 2011 Oct 31;39(8):480-3. Epub 2011 Aug 31.

Division of Maternal-Fetal Medicine Department of Obstetrics and Gynecology, Maine Medical Center, Portland, ME, USA.

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http://dx.doi.org/10.1002/jcu.20868DOI Listing
October 2011

Prenatal sonographic findings in human disorganization syndrome.

J Ultrasound Med 2010 Feb;29(2):301-5

Maine Medical Partners Women's Health, 887 Congress St, Suite 200, Portland, ME 04102 USA.

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February 2010

Improving genetic health care: a Northern New England pilot project addressing the genetic evaluation of the child with developmental delays or intellectual disability.

Am J Med Genet C Semin Med Genet 2009 Aug;151C(3):241-54

Division of Clinical Genetics, Department of Pediatrics, Dartmouth Medical School, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.

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http://dx.doi.org/10.1002/ajmg.c.30221DOI Listing
August 2009

First-trimester prenatal sonographic diagnosis of omphalocele-exstrophy-imperforate anus-spinal defects complex.

J Clin Ultrasound 2009 Mar-Apr;37(3):171-4

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Maine Medical Center, 887 Congress Street, Suite 200, Portland, ME 04102, USA.

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http://doi.wiley.com/10.1002/jcu.20520
Publisher Site
http://dx.doi.org/10.1002/jcu.20520DOI Listing
July 2009

Telegenetics in Maine: Successful clinical and educational service delivery model developed from a 3-year pilot project.

Genet Med 2005 Jan;7(1):21-7

Southern Maine Genetics Services, Foundation for Blood Research, Scarborough, Maine, USA.

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http://dx.doi.org/10.1097/01.gim.0000151150.20570.e7DOI Listing
January 2005