Publications by authors named "Chumei Li"

39Publications

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain 2020 01;143(1):55-68

Laboratory of Embryology and Genetics of Human Malformation, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1093/brain/awz379DOI Listing
January 2020

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

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Eur J Hum Genet 2014 Jan 1;22(1):57-63. Epub 2013 May 1.

1] Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [2] Department of Pediatrics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA [3] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1038/ejhg.2013.67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865402PMC
January 2014

Monosomy 3pter-p25.3 and trisomy 1q42.13-qter in a boy with profound growth and developmental restriction, multiple congenital anomalies, and early death.

Pediatr Neonatol 2013 Jun 5;54(3):202-6. Epub 2013 Mar 5.

Division of Clinical Genetics, McMaster University, Hamilton, Canada.

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http://dx.doi.org/10.1016/j.pedneo.2013.01.009DOI Listing
June 2013

Trisomy 22 mosaicism and normal developmental outcome: report of two patients and review of the literature.

Am J Med Genet A 2013 May 25;161A(5):1126-31. Epub 2013 Mar 25.

Pediatric Residency Program, McMaster University, Hamilton, Canada.

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http://dx.doi.org/10.1002/ajmg.a.35812DOI Listing
May 2013

A prenatally recognizable malformation syndrome associated with a recurrent post-zygotic chromosome rearrangement der(Y)t(Y;1)(q12:q21).

Authors:
Chumei Li

Am J Med Genet A 2010 Sep;152A(9):2339-41

Clinical Genetics Program, McMaster University Medical Center, Hamilton, Canada.

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http://dx.doi.org/10.1002/ajmg.a.33588DOI Listing
September 2010

The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.

Am J Med Genet A 2010 Feb;152A(2):472-8

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

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http://dx.doi.org/10.1002/ajmg.a.33261DOI Listing
February 2010

Phalangeal hypoplasia, mental retardation, agenesis of the corpus callosum, brainstem abnormalities and ectopic grey matter: unique case or newly recognized syndrome?

Clin Dysmorphol 2009 Jul;18(3):160-3

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

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http://dx.doi.org/10.1097/MCD.0b013e32832b44e1DOI Listing
July 2009

Increased nuchal translucency and other ultrasound findings in a case of simpson-golabi-behmel syndrome.

Fetal Diagn Ther 2009 9;25(2):211-5. Epub 2008 Apr 9.

Clinical Genetics Program, Department of Pediatrics, McMaster University Medical Center, Hamilton, Ont., Canada.

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http://dx.doi.org/10.1159/000213487DOI Listing
November 2009

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

A new syndrome of ankyloglossia and ulnar ray defects in a Newfoundland kindred.

Authors:
Chumei Li

Clin Dysmorphol 2009 Jul;18(3):158-9

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

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http://dx.doi.org/10.1097/MCD.0b013e328324440dDOI Listing
July 2009

Clinical genetics provider real-time workflow study.

Authors:
Chumei Li

Genet Med 2008 Dec;10(12):915; author reply 915-6

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http://dx.doi.org/10.1097/gim.0b013e31818fd617DOI Listing
December 2008

A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria.

Clin Chem Lab Med 2009 ;47(1):44-6

Clinical Genetics Program, Department of Pediatrics, McMaster University, Ontario, Canada.

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http://dx.doi.org/10.1515/CCLM.2009.010DOI Listing
March 2009

Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene.

Clin Dysmorphol 2009 Jan;18(1):63-6

Clinical Genetics Program, McMaster University Medical Centre and McMaster University, Hamilton, Ontario, Canada.

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http://dx.doi.org/10.1097/MCD.0b013e328318c4fbDOI Listing
January 2009

Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases.

Am J Med Genet A 2007 Apr;143A(8):853-7

Genetics and Metabolism Program, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.31446
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http://dx.doi.org/10.1002/ajmg.a.31446DOI Listing
April 2007

Intravitreal injection of triamcinolone acetonide for macular edema due to retinitis pigmentosa and other retinal diseases.

Adv Exp Med Biol 2006 ;572:309-14

Moran Eye Center, Department of Ophthalmology and Visual Science, University of Utah, Salt Lake City, UT, USA.

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http://dx.doi.org/10.1007/0-387-32442-9_43DOI Listing
April 2007

Silk microspheres for encapsulation and controlled release.

J Control Release 2007 Feb 30;117(3):360-70. Epub 2006 Nov 30.

Department of Biomedical Engineering, Tufts University, 4 Colby Street, Medford, MA 02155, USA.

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http://dx.doi.org/10.1016/j.jconrel.2006.11.021DOI Listing
February 2007

Severe hemihypotrophy in a female infant with mosaic Turner syndrome: a variant of Russell-Silver syndrome?

Clin Dysmorphol 2004 Apr;13(2):95-8

Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.

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http://dx.doi.org/10.1097/00019605-200404000-00008DOI Listing
April 2004