Linlea Armstrong

Linlea Armstrong

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Linlea Armstrong

Linlea Armstrong

Publications by authors named "Linlea Armstrong"

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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 2019 Oct 8. Epub 2019 Oct 8.

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

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

Loss of BRG1 () Immunoexpression in a Pediatric Non-Central Nervous System Tumor Cohort.

Pediatr Dev Pathol 2019 Aug 12:1093526619869154. Epub 2019 Aug 12.

1 Division of Anatomical Pathology, British Columbia Children's Hospital and Women's Hospital and Health Center, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1177/1093526619869154DOI Listing
August 2019

PTPRD copy number variants and Ewing's sarcoma: Strengthening the association and therapeutic implications.

Cancer Genet 2019 Jun 26;235-236:28-30. Epub 2019 Mar 26.

Department of Medical Genetics, BC Women's Hospital, Vancouver, British Columbia, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2019.03.004DOI Listing
June 2019

Bye to burnout: intergenerational narratives break barriers.

Med Educ 2019 05 27;53(5):518. Epub 2019 Mar 27.

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http://dx.doi.org/10.1111/medu.13850DOI Listing
May 2019

Perioperative Hypotensive Crisis in an Adolescent with a Pancreatic VIPoma and MEN1-Gene Variant.

Horm Res Paediatr 2019 16;91(4):285-289. Epub 2018 Oct 16.

Division of Endocrinology, Department of Pediatrics, British Columbia Children's Hospital and The University of British Columbia, Vancouver, British Columbia, Canada,

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https://www.karger.com/Article/FullText/493396
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http://dx.doi.org/10.1159/000493396DOI Listing
October 2018

Case Series: A Kindred With Eruptive Vellus Hair Cysts and Systemic Features.

J Cutan Med Surg 2017 Nov/Dec;21(6):564-567. Epub 2017 Jun 28.

1 Department of Dermatology and Skin Science, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1177/1203475417719044DOI Listing
July 2018

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.

Am J Med Genet A 2017 Mar;173(3):712-715

BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/ajmg.a.37621DOI Listing
March 2017

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Am J Hum Genet 2017 Jan 23;100(1):138-150. Epub 2016 Dec 23.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Windmill Road, Headington, Oxford OX3 7HE, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223060PMC
January 2017

Successful umbilical cord blood hematopoietic stem cell transplantation in pediatric patients with MDS/AML associated with underlying GATA2 mutations: two case reports and review of literature.

Pediatr Transplant 2016 Nov 15;20(7):1004-1007. Epub 2016 Jul 15.

Division of Hematology/Oncology/BMT, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1111/petr.12764DOI Listing
November 2016

Exome Sequencing and the Management of Neurometabolic Disorders.

N Engl J Med 2016 Jun 25;374(23):2246-55. Epub 2016 May 25.

From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen

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http://dx.doi.org/10.1056/NEJMoa1515792DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983272PMC
June 2016

Severe hypospadias and its association with maternal-placental factors.

Am J Med Genet A 2013 Sep 2;161A(9):2183-7. Epub 2013 Aug 2.

Provincial Medical Genetics Program, Children's and Women's Health Centre of British Columbia, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/ajmg.a.36050DOI Listing
September 2013

The generalized bone phenotype in children with neurofibromatosis 1: a sibling matched case-control study.

Am J Med Genet A 2013 Jul 25;161A(7):1654-61. Epub 2013 May 25.

Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

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http://dx.doi.org/10.1002/ajmg.a.36001DOI Listing
July 2013

Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p.

Eur J Med Genet 2013 May 14;56(5):229-35. Epub 2013 Feb 14.

Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1016/j.ejmg.2013.01.013DOI Listing
May 2013

Cerebrovasculopathy in NF1 associated with ocular and scalp defects.

Am J Med Genet A 2011 Feb 22;155A(2):380-5. Epub 2010 Dec 22.

Provincial Medical Genetics Programme, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.33788DOI Listing
February 2011

Prevalence of dental caries in children with neurofibromatosis 1.

Clin Oral Investig 2010 Aug 5;14(4):479-80; author reply 480. Epub 2010 Jan 5.

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http://dx.doi.org/10.1007/s00784-009-0361-6DOI Listing
August 2010

Validation of predictive models for germline mutations in DNA mismatch repair genes in colorectal cancer.

Int J Cancer 2010 Feb;126(4):930-9

Department of Medical Oncology, British Columbia Cancer Agency, Vancouver, BC, Canada.

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http://dx.doi.org/10.1002/ijc.24808DOI Listing
February 2010

A characteristic syndrome associated with microduplication of 8q12, inclusive of CHD7.

Eur J Med Genet 2009 Nov-Dec;52(6):436-9. Epub 2009 Sep 17.

Department of Medical Genetics, University of British Columbia, Canada.

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http://dx.doi.org/10.1016/j.ejmg.2009.09.006DOI Listing
February 2010

Pre- and postnatal findings in a boy with duplication of the bladder and intestine: report and review.

Am J Med Genet A 2009 Dec;149A(12):2795-802

Department of Biochemical Diseases, BC Children's and Women's Hospital, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.33091DOI Listing
December 2009

The identification of Lynch syndrome in British Columbia.

Can J Gastroenterol 2009 Nov;23(11):761-7

Hereditary Cancer Program, BC Cancer Agency, Vancouver, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2777089PMC
http://dx.doi.org/10.1155/2009/620518DOI Listing
November 2009

A novel KCNA1 mutation associated with global delay and persistent cerebellar dysfunction.

Mov Disord 2009 Apr;24(5):778-82

Department of Pediatric Neurology, British Columbia's Children's Hospital, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/mds.22467DOI Listing
April 2009

The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review.

Am J Med Genet A 2008 Jan;146A(1):83-92

Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1002/ajmg.a.31998DOI Listing
January 2008

Report of a fourth individual with a lethal syndrome of choanal atresia, athelia, evidence of renal tubulopathy, and family history of neck cysts.

Am J Med Genet A 2007 Jun;143A(11):1231-5

Department of Pediatrics, University of British Columbia, Vancouver, British Columbia.

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http://dx.doi.org/10.1002/ajmg.a.31734DOI Listing
June 2007

Unrelated patients with a rearrangement of chromosome 2 causing duplication of 2p23 and deletion of 2q37.

Am J Med Genet A 2005 Apr;134(3):299-304

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.30502DOI Listing
April 2005

A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa.

Am J Med Genet A 2003 May;119A(1):57-62

Eastern Ontario Genetics Program, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://dx.doi.org/10.1002/ajmg.a.10175DOI Listing
May 2003

De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype.

Am J Med Genet A 2003 Jan;116A(1):71-6

Eastern Ontario RegionalGenetics Program, Children's Hospital of Eastern Ontario, Ottawa, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.10727
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http://dx.doi.org/10.1002/ajmg.a.10727DOI Listing
January 2003