Publications by authors named "Gary Bellus"

18Publications

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.

Eur J Hum Genet 2020 Nov 4;28(11):1548-1554. Epub 2020 Jun 4.

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1038/s41431-020-0662-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7576819PMC
November 2020

Diagnosis of pili trianguli et canaliculi by frozen section: A rapid and inexpensive method of diagnosis.

Pediatr Dermatol 2020 May 28;37(3):534-536. Epub 2020 Feb 28.

Department of Dermatology, Geisinger Medical Center, Danville, Pennsylvania, United States.

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http://dx.doi.org/10.1111/pde.14133DOI Listing
May 2020

Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 03;21(3):764-765

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

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http://www.nature.com/articles/s41436-018-0326-8
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http://dx.doi.org/10.1038/s41436-018-0326-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7608433PMC
March 2019

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.

Genet Med 2019 04 7;21(4):867-876. Epub 2018 Sep 7.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.

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http://dx.doi.org/10.1038/s41436-018-0269-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752285PMC
April 2019

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Hum Mutat 2015 Nov 21;36(11):1052-63. Epub 2015 Aug 21.

Department of Genetics, Medical Genomics Laboratory, University of Alabama at Birmingham, Birmingham, Alabama.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5049609PMC
http://dx.doi.org/10.1002/humu.22832DOI Listing
November 2015

Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.

Am J Med Genet A 2015 Feb 26;167A(2):421-7. Epub 2014 Nov 26.

Department of Pediatrics, Children's Hospital Colorado, University of Colorado Denver Anschutz Medical Campus, Aurora, Colorado.

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http://dx.doi.org/10.1002/ajmg.a.36852DOI Listing
February 2015

Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx.

Am J Med Genet A 2011 Nov 19;155A(11):2766-70. Epub 2011 Sep 19.

Division of Clinical Genetics and Metabolism, The Children's Hospital, UC Denver School of Medicine, Aurora, Colorado, USA.

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http://dx.doi.org/10.1002/ajmg.a.34227DOI Listing
November 2011

Immunosuppression and sebaceous tumors: a confirmed diagnosis of Muir-Torre syndrome unmasked by immunosuppressive therapy.

J Am Acad Dermatol 2011 Nov 6;65(5):1054-1058.e1. Epub 2011 May 6.

Department of Dermatology, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.

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http://dx.doi.org/10.1016/j.jaad.2010.08.003DOI Listing
November 2011

Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization.

J Craniofac Surg 2010 Sep;21(5):1369-75

Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Denver School of Medicine, Aurora, Colorado, USA.

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http://dx.doi.org/10.1097/SCS.0b013e3181ec6ac0DOI Listing
September 2010

On the spectrum of limb-body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence.

Am J Med Genet A 2007 May;143A(10):1025-31

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana 46202-5251, USA.

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http://dx.doi.org/10.1002/ajmg.a.31691DOI Listing
May 2007

Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia.

Am J Med Genet A 2003 Jan;116A(1):61-5

Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA.

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http://dx.doi.org/10.1002/ajmg.a.10807DOI Listing
January 2003