Dinel Pond

Dinel Pond

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Dinel Pond

Dinel Pond

Publications by authors named "Dinel Pond"

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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
April 2019

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
March 2019

A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib.

Genet Med 2018 01 20;20(1):142-150. Epub 2017 Jul 20.

Department of Pediatric Hematology-Oncology, Children's Minnesota, Minneapolis, Minnesota, USA.

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http://dx.doi.org/10.1038/gim.2017.104DOI Listing
January 2018

Multiple pilomatrixomas in a survivor of WNT-activated medulloblastoma leading to the discovery of a germline APC mutation and the diagnosis of familial adenomatous polyposis.

Pediatr Blood Cancer 2018 Jan 9;65(1). Epub 2017 Aug 9.

Department of Hematology-Oncology, Children's Minnesota, Minneapolis, Minnesota.

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http://dx.doi.org/10.1002/pbc.26756DOI Listing
January 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

Clinical and genetic characteristics for the Urofacial Syndrome (UFS).

Int J Clin Exp Pathol 2014 15;7(5):1842-8. Epub 2014 Apr 15.

The Center for Biomedical Research, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 1095 Jiefang Ave., Wuhan 430030, China.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4069969PMC
February 2015

Neurofibromatosis type 1: update on a common genetic condition.

Minn Med 2009 Mar;92(3):49-52

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March 2009