Publications by authors named "Sandra A Farrell"

22Publications

HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia.

Am J Med Genet A 2017 Nov 12;173(11):3070-3074. Epub 2017 Sep 12.

Molecular Genetics of Development Laboratory, Department of Biological Sciences and BioMed Research Center, Faculty of Sciences, University of Quebec at Montreal, Montreal, Quebec.

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http://dx.doi.org/10.1002/ajmg.a.38354DOI Listing
November 2017

Charcot-Marie-Tooth 1B caused by expansion of a familial myelin protein zero (MPZ) gene duplication.

Eur J Med Genet 2013 Oct 25;56(10):566-9. Epub 2013 Jun 25.

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Canada; Division of Genetics, Trillium Health Partners, Credit Valley Hospital, 2200 Eglinton Ave., West, Mississauga, Ontario, Canada L5M 2N1. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.06.004DOI Listing
October 2013

The impact of maternal weight discrepancies on prenatal screening results for Down syndrome.

Prenat Diagn 2013 May 20;33(5):471-6. Epub 2013 Mar 20.

Genetics Program, North York General Hospital, Toronto, ON, Canada.

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http://dx.doi.org/10.1002/pd.4090DOI Listing
May 2013

Standardized Procedural Practices of the Ontario Prenatal Screening Program for aneuploidies and open neural tube defects.

Clin Biochem 2012 Oct 23;45(15):1152-7. Epub 2012 Jun 23.

Department of Pathology and Laboratory Medicine, University of Ottawa and Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

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http://dx.doi.org/10.1016/j.clinbiochem.2012.06.015DOI Listing
October 2012

Non-syndromic language delay in a child with disruption in the Protocadherin11X/Y gene pair.

Am J Med Genet B Neuropsychiatr Genet 2011 Jun 7;156B(4):484-9. Epub 2011 Apr 7.

Department of Genetics and Laboratory Medicine, Credit Valley Hospital, Mississauga, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.b.31186DOI Listing
June 2011

Metabolic syndrome features and risk of neural tube defects.

BMC Pregnancy Childbirth 2007 Sep 19;7:21. Epub 2007 Sep 19.

Department of Medicine, St, Michael's Hospital, University of Toronto, 30 Bond Street, Toronto, Ontario, M5B 1W8, Canada.

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http://dx.doi.org/10.1186/1471-2393-7-21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2039731PMC
September 2007

Vitamin B12 and the risk of neural tube defects in a folic-acid-fortified population.

Epidemiology 2007 May;18(3):362-6

Department of Medicine, St. Michael's Hospital, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1097/01.ede.0000257063.77411.e9DOI Listing
May 2007

Contingent screening for Down syndrome.

Prenat Diagn 2005 Oct;25(10):963

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http://dx.doi.org/10.1002/pd.1245DOI Listing
October 2005

Molecular characterization of an inherited ring (19) demonstrating ring opening.

Am J Med Genet A 2003 Aug;121A(2):141-5

Division of Genetics, Department of Laboratory Medicine, The Credit Valley Hospital, Mississauga, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.20184DOI Listing
August 2003

A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis.

Kidney Int 2003 May;63(5):1652-7

Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S00852538154905
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http://dx.doi.org/10.1046/j.1523-1755.2003.00904.xDOI Listing
May 2003

Double-positive maternal serum screening results for down syndrome and open neural tube defects: An indicator for fetal structural or chromosomal abnormalities and adverse obstetric outcomes.

Am J Obstet Gynecol 2002 Sep;187(3):758-63

Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1067/mob.2002.125240DOI Listing
September 2002

Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay.

Eur J Hum Genet 2002 Jan;10(1):44-51

Department of Medical Genetics, University of Alberta and Cytogenetics Laboratory, Stollery Children's Hospital, Edmonton, AB, Canada.

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http://www.nature.com/articles/5200757
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http://dx.doi.org/10.1038/sj.ejhg.5200757DOI Listing
January 2002