Publications by authors named "Susan Zeesman"

20Publications

Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.

Am J Med Genet A 2015 Jan 6;167A(1):180-4. Epub 2014 Oct 6.

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

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http://dx.doi.org/10.1002/ajmg.a.36790DOI Listing
January 2015

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.

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

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.

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

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.

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

Paternal transmission of fragile X syndrome.

Am J Med Genet A 2004 Aug;129A(2):184-9

Department of Pediatrics, McMaster University, Hamilton, Ontario.

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http://dx.doi.org/10.1002/ajmg.a.30191DOI Listing
August 2004

Pregnancy in a healthy woman with untreated citrullinemia.

Am J Med Genet A 2004 Aug;129A(1):77-82

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

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http://dx.doi.org/10.1002/ajmg.a.20559DOI Listing
August 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.

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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.

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

Ovarian failure related to eukaryotic initiation factor 2B mutations.

Am J Hum Genet 2003 Jun 21;72(6):1544-50. Epub 2003 Apr 21.

INSERM Unité Mixte de Recherche 384, Faculté de Médecine, Clermont-Ferrand, France.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180314PMC
http://dx.doi.org/10.1086/375404DOI Listing
June 2003

Human chromosome 7: DNA sequence and biology.

Science 2003 May 10;300(5620):767-72. Epub 2003 Apr 10.

Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8.

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http://dx.doi.org/10.1126/science.1083423DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2882961PMC
May 2003

Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature.

Am J Med Genet 2002 Jan;107(3):222-6

Department of Pediatrics, McMaster University, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.10141DOI Listing
January 2002