SandraA(Aiken)Jean-CharlesMD

PubMed

• 3 citations
  Heterozygous intragenic deletions of FREM1 are not associated with trigonocephaly.
  A. J. Dawson, Karine Hovanes, Jing Liu, Sandra L. Marles, Cheryl R. Greenberg, Aziz Mhanni, Albert E. Chudley, Patrick Frosk, Trilochan Sahoo, Denny Schanze, Martin Ze...> ;Clinical Dysmorphology. 2021 Apr 1
• 5 citations
  Ataxia-telangiectasia with female fertility
  A. J. Dawson, Sandra L. Marles, M. Tomiuk, D. Riordan, Richard A. Gatti> ;American Journal of Medical Genetics. Part A. 2015 Aug 1
• 14 citations
  Trends in Telehealth versus On-site Clinical Genetics Appointments in Manitoba: A Comparative Study
  Alison M. Elliott, Aizeddin A. Mhanni, Sandra L. Marles, Cheryl R. Greenberg, Albert E. Chudley, Gwendolyne C. Nyhof, Bernard N. Chodirker> ;Journal of Genetic Counseling. 2012 Apr 1
• 42 citations
  Understanding the impact of 1q21.1 Copy Number Variant.
  Chansonette Harvard, Emma Strong, Eloi Mercier, Rita Colnaghi, Diana Alcantara, Eva W.C. Chow, Sally Martell, Christine Tyson, Monica Hrynchak, Barbara McGillivray, Sa...> ;Orphanet Journal of Rare Diseases. 2011 Aug 8
• 45 citations
  Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1
  Anne Slavotinek, Sergio E. Baranzini, Denny Schanze, Cassandre Labelle-Dumais, Kieran M. Short, Ryan Chao, Mani Yahyavi, Emilia K. Bijlsma, Catherine Chu, Stacey Muson...> ;Journal of Medical Genetics. 2011 Jan 1
• 5 citations
  Cytogenetic microarrays in Manitoba patients with developmental delay
  A. J. Dawson, D. Riordan, M. Tomiuk, D. Konkin, T. Anderson, P Bocangel, N Lwiwiski, J Saltel‐Olson, Sandra L. Marles, Cheryl R. Greenberg, Aziz Mhanni, B. N. Chodirke...> ;Clinical Genetics. 2009 May 1
• 3 citations
  Early-Onset Neurodegenerative Disease of the Cerebellum and Motor Axons
  Michael S. Salman, Sandra L. Marles, Frances A. Booth, Marc R. Del Bigio> ;Pediatric Neurology. 2009 May 1
• 7 citations
  Concordance of three methods for palpebral fissure length measurement in the assessment of fetal alcohol spectrum disorder.
  Meghan E Cranston, Aizeddin A. Mhanni, Sandra L. Marles, Albert E. Chudley> ;The Canadian Journal of Clinical Pharmacology = Journal Canadien De Pharmacologie Clinique. 2009 Jan 1
• 3 citations
  Increased Nuchal Translucency Thickness: A Potential Indicator for Ritscher-Schinzel Syndrome
  Alison Rusnak, Marie Hadfield, Albert E. Chudley, Sandra L. Marles, Gregory J. Reid, Bernard N. Chodirker> ;Fetal Diagnosis and Therapy. 2008 Oct 28
• 15 citations
  Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.
  Chumei Li, Sandra L. Marles, Cheryl R. Greenberg, Bernard N. Chodirker, Jiddeke M. van de Kamp, Anne Slavotinek, Albert E. Chudley> ;American Journal of Medical Genetics. Part A. 2007 Apr 15
• 20 citations
  Bowen-Conradi syndrome: a clinical and genetic study.
  Robert Brian Lowry, A.M. Innes, Francois P. Bernier, D.R. McLeod, Cheryl R. Greenberg, Albert E. Chudley, B. N. Chodirker, Sandra L. Marles, M. J. Crumley, J. C. Lored...> ;American Journal of Medical Genetics. Part A. 2003 Jul 30
• 9 citations
  Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure.
  Sandra L. Marles, Martin J. Reed, Jane A. Evans> ;American Journal of Medical Genetics. Part A. 2003 Jan 1
• 3 citations
  A not-so-"new" mental retardation syndrome.
  Bernard N. Chodirker, Sandra L. Marles, Albert E. Chudley> ;American Journal of Medical Genetics. 2002 Jul 22
• 11 citations
  Telemedicine diagnosis for fetal alcohol syndrome - The Manitoba experience
  T Benoit, C Bowes, N Bowman, D Cantin, Albert E. Chudley, D Crolly, A Livingston, Sally Longstaffe, Sandra L. Marles, C Miller, M Millar, M Penko, Chitra Prasad, J Rig...> ;Paediatrics & Child Health. 2002 Mar 1
• 14 citations
  Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.
  Chitra Prasad, Sandra L. Marles, Asuri N. Prasad, Sarah M. Nikkel, Sally Longstaffe, Deborah Peabody, Barry Eng, Sarah Wright, John S. Waye, Małgorzata J.M. Nowaczyk> ;American Journal of Medical Genetics. 2002 Feb 15
• 6 citations
  Long-term survival and normal cognitive development in infantile phosphofructokinase-1 deficiency.
  E. L. Spriggs, Sandra L. Marles, A. Lacson, K. McRae, N. Bowman, R. Sachdeva, R. Monson, L. Dilling, Cheryl R. Greenberg> ;Clinical Genetics. 1999 Sep 1
• 10 citations
  Persistent neonatal hypoglycemia: Diagnosis and management.
  Sandra L. Marles, Oscar G. Casiro> ;Paediatrics & Child Health. 1998 Jan 1
• 7 citations
  Prenatal diagnosis of ring chromosome 6.
  A. J. Dawson, Sandra L. Marles, Christopher R. Harman, S. Phillips, S. Menticoglou> ;Prenatal Diagnosis. 1995 Sep 1
• 4 citations
  Identification of an uncommon haptoglobin type using DNA and protein analysis
  Sandra L. Marles, Phyllis J. McAlpine, Teresa Zelinski, Sylvia Phillips, Nobuyo Maeda, Cheryl R. Greenberg> ;Human Genetics. 1993 Oct 1
• 10 citations
  Mucinous cystadenoma of ovary in a patient with Williams syndrome.
  Sandra L. Marles, Norman A. Goldberg, Albert E. Chudley> ;American Journal of Medical Genetics. 1993 May 15
• 21 citations
  New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians.
  Sandra L. Marles, Cheryl R. Greenberg, T. V. N. Persaud, E. Paul Shuckett, Albert E. Chudley> ;American Journal of Medical Genetics. 1992 Apr 1
• 5 citations
  Ulnar agenesis and endocardial fibroelastosis
  Sandra L. Marles, Albert E. Chudley> ;American Journal of Medical Genetics. 1990 Oct 1
• 1 citations
  Another case of microcephaly, facial clefting, and preaxial polydactyly.
  Sandra L. Marles, A E Chudley> ;Journal of Medical Genetics. 1990 Sep 1
• Pseudouridines and pseudouridine synthases of the ribosome.
  Ofengand, J., Malhotra, A., Remme, J., Gutgsell, N. S., Del Campo, M., Jean-Charles, S., Peil, L., Kaya, Y.> ;Cold Spring Harb Symp Quant Biol. 2001
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