Roberto Mendoza-Londono

Roberto Mendoza-Londono

Roberto Mendoza-Londono

Roberto Mendoza-Londono

Introduction

Publications

20Publications

407Reads

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Angelman syndrome due to a termination codon mutation of the UBE3A gene.

J Child Neurol 2013 Mar 7;28(3):392-5. Epub 2012 May 7.

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

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http://dx.doi.org/10.1177/0883073812443591DOI Listing
March 2013
2 Reads
1.666 Impact Factor

Osteopathia striata with cranial sclerosis and developmental delay in a male with a mosaic deletion in chromosome region Xq11.2.

Am J Med Genet A 2012 Nov 17;158A(11):2946-52. Epub 2012 Sep 17.

The Hospital for Sick Children, Department of Paediatric Laboratory Medicine, Toronto, Ontario, Canada.

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http://doi.wiley.com/10.1002/ajmg.a.35619
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http://dx.doi.org/10.1002/ajmg.a.35619DOI Listing
November 2012
3 Reads
2.159 Impact Factor

Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.

Am J Med Genet A 2012 Jul 25;158A(7):1579-88. Epub 2012 May 25.

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

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http://dx.doi.org/10.1002/ajmg.a.35399DOI Listing
July 2012
19 Reads
2.159 Impact Factor

Extracellular matrix and platelet function in patients with musculocontractural Ehlers-Danlos syndrome caused by mutations in the CHST14 gene.

Am J Med Genet A 2012 Jun 11;158A(6):1344-54. Epub 2012 May 11.

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

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http://dx.doi.org/10.1002/ajmg.a.35339DOI Listing
June 2012
42 Reads
2.159 Impact Factor

Imaging of SHOX-associated anomalies.

Semin Musculoskelet Radiol 2009 Sep 1;13(3):236-54. Epub 2009 Sep 1.

Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1055/s-0029-1237691DOI Listing
September 2009
7 Reads
0.952 Impact Factor

A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.

Am J Med Genet A 2009 Mar;149A(3):322-7

Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32679DOI Listing
March 2009
6 Reads
2.159 Impact Factor

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.

Am J Med Genet A 2007 Dec;143A(24):2924-30

Institute of Medical Science, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32101DOI Listing
December 2007
39 Reads
2.159 Impact Factor

Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).

Am J Med Genet A 2007 May;143A(9):999-1008

Department of Human Genetics, Medical College of Virginia Campus, Virginia Commonwealth University, Richmond, VA 23298, USA.

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http://dx.doi.org/10.1002/ajmg.a.31689DOI Listing
May 2007
1 Read
2.159 Impact Factor

Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation.

Mol Genet Metab 2005 Sep-Oct;86(1-2):257-68

Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920500214
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http://dx.doi.org/10.1016/j.ymgme.2005.07.012DOI Listing
January 2006
4 Reads
2.625 Impact Factor

X-linked retinoschisis in three females from the same family: a phenotype-genotype correlation.

Retina 2005 Jan;25(1):69-74

Fundación Oftalmológica Nacional, Facultad de Medicina, Universidad del Rosario, Bogotá, Colombia.

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http://dx.doi.org/10.1097/00006982-200501000-00010DOI Listing
January 2005
3 Reads
3.243 Impact Factor

Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes.

Genes Chromosomes Cancer 2005 Jan;42(1):82-6

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://doi.wiley.com/10.1002/gcc.20100
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http://dx.doi.org/10.1002/gcc.20100DOI Listing
January 2005
2 Reads
4.041 Impact Factor

Foreign-born physician-scientists.

Science 2004 Jul;305(5684):609

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http://dx.doi.org/10.1126/science.305.5684.609aDOI Listing
July 2004
2 Reads
31.477 Impact Factor

Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)].

Am J Med Genet A 2004 Jul;128A(1):72-7

Department of Molecular and Human Genetics, Baylor College of Medicine, and Texas Children's Hospital, Clinical Care Center, 6621 Fannin, Houston, TX 77030, USA.

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http://doi.wiley.com/10.1002/ajmg.a.30094
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http://dx.doi.org/10.1002/ajmg.a.30094DOI Listing
July 2004
9 Reads
2.159 Impact Factor

von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development.

Am J Med Genet A 2004 Apr;126A(3):299-302

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://doi.wiley.com/10.1002/ajmg.a.20593
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http://dx.doi.org/10.1002/ajmg.a.20593DOI Listing
April 2004
3 Reads
2.159 Impact Factor

Top co-authors

Lucie Dupuis
Lucie Dupuis

The Hospital for Sick Children

6
Sheila Unger
Sheila Unger

University of Lausanne

4
David Chitayat
David Chitayat

Mount Sinai Hospital

3
Gen Nishimura
Gen Nishimura

Keio University School of Medicine

3
Ekkehart Lausch
Ekkehart Lausch

University of Freiburg

3
Luisa Bonafe
Luisa Bonafe

Center for Molecular Diseases

2
Shiro Ikegawa
Shiro Ikegawa

Laboratory for Bone and Joint Diseases

2
Brendan Lee
Brendan Lee

Baylor College of Medicine

2
Andrew Howard
Andrew Howard

The Hospital for Sick Children

2