Malgorzata J M Nowaczyk

Malgorzata J M Nowaczyk

UNVERIFIED PROFILE

Are you Malgorzata J M Nowaczyk?   Register this Author

Register author
Malgorzata J M Nowaczyk

Malgorzata J M Nowaczyk

Publications by authors named "Malgorzata J M Nowaczyk"

Are you Malgorzata J M Nowaczyk?   Register this Author

55Publications

1494Reads

5Profile Views

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 2019 Oct 8. Epub 2019 Oct 8.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23929DOI Listing
October 2019

A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.

Am J Med Genet A 2017 Jan 15;173(1):126-134. Epub 2016 Sep 15.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37973DOI Listing
January 2017

Partial monosomy 1q43 and partial trisomy 20q13.2: a case report.

Clin Dysmorphol 2016 Jul;25(3):128-32

aBHSc Program Faculty of Health Sciences, and Departments of bPathology and Molecular Medicine cPediatrics, McMaster University, Hamilton, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0000000000000125DOI Listing
July 2016

Fetal autopsy findings of cardiofaciocutaneous syndrome with a unique BRAF mutation.

Pediatr Dev Pathol 2014 Jan-Feb;17(1):59-63. Epub 2013 Dec 4.

1  Department of Pathology and Molecular Medicine, McMaster Children's Hospital, 1200 Main Street West, Hamilton, ON, L8N 3Z5, Canada.

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.2350/13-08-1365-CR.1
Publisher Site
http://dx.doi.org/10.2350/13-08-1365-CR.1DOI Listing
May 2014

Narrative medicine: a call to pens.

Am J Med Genet A 2013 Sep 29;161A(9):2117-8. Epub 2013 Jul 29.

Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36114DOI Listing
September 2013

Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44.

Am J Med Genet A 2013 Aug 21;161A(8):2016-9. Epub 2013 Jun 21.

Faculty of Medicine, University of Toronto, Toronto, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35999DOI Listing
August 2013

Prenatal and pathologic features of aorto-left ventricular tunnel causing fetal hydrops and intrauterine demise.

Pediatr Dev Pathol 2013 Mar-Apr;16(2):97-101. Epub 2013 Jan 3.

Department of Pathology and Molecular Medicine, McMaster Children's Hospital, Hamilton, ON, L8N 3Z5, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2350/12-10-1264-CR.1DOI Listing
July 2013

Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature.

Am J Med Genet A 2013 May 25;161A(5):1126-31. Epub 2013 Mar 25.

Pediatric Residency Program, McMaster University, Hamilton, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35812DOI Listing
May 2013

Growth charts for individuals with Smith-Lemli-Opitz syndrome.

Am J Med Genet A 2012 Nov 21;158A(11):2707-13. Epub 2012 May 21.

National Institutes of Health, The Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35376DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3427420PMC
November 2012

Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction.

Am J Med Genet C Semin Med Genet 2012 Nov 5;160C(4):239-41. Epub 2012 Oct 5.

Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31344DOI Listing
November 2012

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.

Am J Med Genet C Semin Med Genet 2012 Nov 11;160C(4):250-62. Epub 2012 Oct 11.

Department of Pathology and Molecular Medicine and Department of Pediatrics, McMaster University McMaster University Medical Centre, Room 3N16, 1200 Main Street West, Hamilton ON, Canada L8S 4J9.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31343DOI Listing
November 2012

Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies.

Am J Med Genet A 2012 Aug 27;158A(8):1848-56. Epub 2012 Jun 27.

Division of Genetics, The Children's Hospital of Philadelphia, and Department of Pediatrics, Perelman School of Medicine at The University of Pennsylvania, Philadelphia, Pennsylvania 19104-4318, USA.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.35410
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.35410DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402646PMC
August 2012

Narrative medicine in clinical genetics practice.

Am J Med Genet A 2012 Aug 29;158A(8):1941-7. Epub 2012 Jun 29.

Department of Pathology and Molecular Medicine, McMaster University Medical Centre, Hamilton, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35482DOI Listing
August 2012

Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.

Am J Med Genet A 2012 Aug 29;158A(8):1832-6. Epub 2012 Jun 29.

Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.35508
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.35508DOI Listing
August 2012

Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

Am J Med Genet A 2012 May 21;158A(5):1020-8. Epub 2012 Mar 21.

Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35285DOI Listing
May 2012

Ectomorphic body habitus, microcephaly, developmental delay with characteristic facial phenotype: a new entity?

Clin Dysmorphol 2011 Oct;20(4):200-4

Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada.

View Article

Download full-text PDF

Source
http://pdfs.journals.lww.com/clindysmorphol/2011/10000/Ectom
Web Search
http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
Publisher Site
http://dx.doi.org/10.1097/MCD.0b013e328349bdb3DOI Listing
October 2011

Epiphyseal stippling is not a feature of 7-dehydrocholesterol reductase deficiency (Smith-Lemli-Opitz syndrome).

Am J Med Genet A 2011 Apr 15;155A(4):940-1. Epub 2011 Mar 15.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33937DOI Listing
April 2011

An uncommon 3.4-Mb interstitial deletion at 3q29.

Clin Dysmorphol 2010 Jul;19(3):133-6

Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e3283387b21DOI Listing
July 2010

The blemmy: A medieval grotesque inspired by iniencephaly?

Am J Med Genet A 2010 Jun;152A(6):1583-5

Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.33399
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33399DOI Listing
June 2010

4.3-Mb triplication of 4q32.1-q32.2: report of a family through two generations.

Am J Med Genet A 2009 Oct;149A(10):2274-9

Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.33020
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33020DOI Listing
October 2009

Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients.

Am J Med Genet A 2009 Mar;149A(3):372-9

Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32675DOI Listing
March 2009

De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome.

Am J Med Genet A 2007 Aug;143A(15):1799-801

1Hamilton Regional Laboratory Medicine Program, Hamilton, Ontario, Canada.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.31802
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31802DOI Listing
August 2007

Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.

Prenat Diagn 2007 Jul;27(7):638-40

Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton ON, Canada L8N 3Z5, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pd.1735DOI Listing
July 2007

DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?

Am J Med Genet A 2006 Oct;140(19):2057-62

Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31413DOI Listing
October 2006

FISH-mapping of telomeric 14q32 deletions: search for the cause of seizures.

Am J Med Genet A 2005 Oct;138A(3):218-24

Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30942DOI Listing
October 2005

Incidence of Smith-Lemli-Opitz syndrome in Canada: results of three-year population surveillance.

J Pediatr 2004 Oct;145(4):530-5

Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2004.06.045DOI Listing
October 2004

Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.

Am J Med Genet A 2004 Mar;125A(2):173-6

Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20676DOI Listing
March 2004

Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader-Willi syndrome: a new case and review of the literature.

Am J Med Genet A 2004 Feb;125A(1):73-6

Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences Corporation, and Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20458DOI Listing
February 2004

Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification.

Am J Med Genet A 2003 Dec;123A(2):179-82

Department of Pediatrics, McMaster University Medical Center, 1200 Main Street West, Hamilton, Ontario, Canada L8S 4J9.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20215DOI Listing
December 2003

De novo 1q32q44 duplication and distal 1q trisomy syndrome.

Am J Med Genet A 2003 Jul;120A(2):229-33

Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20028DOI Listing
July 2003

Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.

Am J Med Genet 2002 Feb;108(1):64-8

Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.10211DOI Listing
February 2002