Publications by authors named "Marta Szybowska"

21Publications

Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy.

J Dermatol 2020 Aug 30;47(8):898-902. Epub 2020 Jun 30.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto and The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1111/1346-8138.15377DOI Listing
August 2020

Adult patient perspectives on phenylketonuria care: Highlighting the need for dedicated adult management and services.

Eur J Med Genet 2020 Apr 25;63(4):103818. Epub 2019 Nov 25.

Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, 60 Murray Street, Box 34, 3rd Floor, Room 400, Toronto, ON, M5T 3L9, Canada; Centre for Addiction and Mental Health, Toronto, Canada; Department of Medicine, University of Toronto, Toronto, Canada; Department of Psychiatry, University of Toronto, Toronto, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.103818DOI Listing
April 2020

Neuroendocrine Neoplasms Associated with Germline Pathogenic Variants in the Homologous Recombination Pathway.

Endocr Pathol 2019 Sep;30(3):237-245

Fred A. Litwin Family Center in Genetic Medicine, University Health Network, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s12022-019-9569-4DOI Listing
September 2019

Intrathyroidal Parathyroid Carcinoma: An Atypical Thyroid Lesion.

Front Endocrinol (Lausanne) 2018 1;9:641. Epub 2018 Nov 1.

Department of Medicine, University Health Network, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.3389/fendo.2018.00641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6230986PMC
November 2018

Novel features of Helsmoortel-Van der Aa/ADNP syndrome in a boy with a known pathogenic mutation in the ADNP gene detected by exome sequencing.

Am J Med Genet A 2017 Jul 5;173(7):1994-1995. Epub 2017 May 5.

McMaster University Medical Center, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38201DOI Listing
July 2017

Macrocephaly, growth failure, translucent skin, renal cysts, coarctation of the aorta, and cholestasis: novel features of a new syndrome - the del17q12 syndrome.

Clin Dysmorphol 2009 Jul;18(3):149-50

Clinical Genetics Program, McMaster Children's Hospital and McMaster University, Canada.

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http://dx.doi.org/10.1097/MCD.0b013e328319edd9DOI Listing
July 2009

Carbachol injections into the intergeniculate leaflet induce nonphotic phase shifts.

Brain Res 2007 Oct 9;1177:59-65. Epub 2007 Aug 9.

Centre for Biological Timing and Cognition, Departments of Psychology, University of Toronto, 100 St. George Street, Room 4020, Toronto, Ontario, Canada M5S 3G3.

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http://dx.doi.org/10.1016/j.brainres.2007.07.048DOI Listing
October 2007

Assessing the informational needs of adolescents with a genetic condition: what do they want to know?

J Genet Couns 2007 Apr;16(2):201-10

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s10897-006-9060-5DOI Listing
April 2007

Matrix metalloproteinase-7 and epidermal growth factor receptor mediate hypoxia-induced extracellular signal-regulated kinase 1/2 mitogen-activated protein kinase activation and subsequent proliferation in bladder smooth muscle cells.

In Vitro Cell Dev Biol Anim 2006 May-Jun;42(5-6):124-33

Division of Infection, Immunity, Injury, & Repair, The Research Institute, The Hospital for Sick Children and Institute for Medical Sciences, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1290/0510070.1DOI Listing
October 2006

Role of signal transducer and activator of transcription 3 (STAT3) in stretch injury to bladder smooth muscle cells.

Cell Tissue Res 2006 Oct 17;326(1):149-58. Epub 2006 May 17.

Institute of Medical Sciences, The Research Institute, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s00441-006-0204-6DOI Listing
October 2006