Výsledky vyhledávání - "Rebecca L. Margraf"

Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database

Autor: Rebecca L. Margraf, Rachel Z. Alexander, Makenzie L. Fulmer, Christine E. Miller, Elena Coupal, Rong Mao

Publikováno v: Human mutationREFERENCES.

The Multiple Endocrine Neoplasia type 2 (MEN2) RET proto-oncogene database, originally published in 2008, is a comprehensive repository of all publicly available RET gene variations associated with MEN2 syndromes. The variant-specific genotype/phenot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40c10ee68929745c8a7395b2f70777d8
https://pubmed.ncbi.nlm.nih.gov/36251279

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A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia

Autor: Mohamed Jama, Rebecca L. Margraf, Ping Yu, N. Scott Reading, Pinar Bayrak-Toydemir

Publikováno v: The Journal of molecular diagnostics : JMD. 24(8)

Friedreich ataxia is a rare autosomal recessive, neuromuscular degenerative disease caused by an expansion of a trinucleotide [guanine-adenine-adenine (GAA)] repeat in intron 1 of the FXN gene. It is common in the White population, characterized by p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ca4bad4ce402171fb326e7001ab3971
https://pubmed.ncbi.nlm.nih.gov/35595154

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Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia

Autor: Jamie McDonald, Peter Johnson, Jennifer Thomson, Pinar Bayrak-Toydemir, Gulsen Akay, Chad Vansant-Webb, Rebecca L. Margraf, Eric Briggs, Andrew Farrell, Angela E. Lin, Reed E. Pyeritz, Matt Velinder, Gabor T. Marth, Kevin J. Whitehead, Whitney Wooderchak-Donahue

Publikováno v: Journal of Medical Genetics. 55:824-830

IntroductionHereditary haemorrhagic telangiectasia (HHT) is a genetically heterogeneous disorder caused by mutations in the genes ENG, ACVRL1, and SMAD4. Yet the genetic cause remains unknown for some families even after exhaustive exome analysis. We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d78132f404d57e571a4c2bbb8902beb5
https://doi.org/10.1136/jmedgenet-2018-105561

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Akademický článek

Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene.

Autor: David K Crockett, Stephen R Piccolo, Perry G Ridge, Rebecca L Margraf, Elaine Lyon, Marc S Williams, Joyce A Mitchell

Publikováno v: PLoS ONE, Vol 6, Iss 3, p e18380 (2011)

Although reported gene variants in the RET oncogene have been directly associated with multiple endocrine neoplasia type 2 and hereditary medullary thyroid carcinoma, other mutations are classified as variants of uncertain significance (VUS) until th

Externí odkaz: https://doaj.org/article/f694a8fd761f461fb9d3cc2bc2b7a697

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Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort with Tibial Pseudarthrosis

Autor: Heather Hanson, Jacques L. D’Astous, John C. Carey, Rebecca L. Margraf, David W. Sant, Dave Viskochil, Chad Vansant-Webb, David A. Stevenson, Rong Mao

Publikováno v: The Journal of Molecular Diagnostics. 19:468-474

A subset of neurofibromatosis type 1 patients develop tibial dysplasia, which can lead to pseudarthrosis. The tissue from the tibial pseudarthrosis region commonly has a somatic second hit in NF1: single-nucleotide variants, small deletions, or loss

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9a61cad82a9ee6a8ac9ea3f3908044f
https://doi.org/10.1016/j.jmoldx.2017.01.008

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NF1 Somatic Mutation in Dystrophic Scoliosis

Autor: Chad Vansant-Webb, Rebecca L. Margraf, David A. Stevenson, John C. Carey, Allie H. Grossmann, David Viskochil, Heather Hanson, Jacques L. D’Astous, Rong Mao

Publikováno v: Journal of molecular neuroscience : MN. 68(1)

Scoliosis is a common manifestation of neurofibromatosis type 1, causing significant morbidity. The etiology of dystrophic scoliosis in neurofibromatosis type 1 is not fully understood and therapies are lacking. Somatic mutations in NF1 have been sho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bec5aba7da1d6fdeca02c072696c8bc6
https://pubmed.ncbi.nlm.nih.gov/30778836

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Novel Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical Phenotypes

Autor: Rebecca L. Margraf PhD, Jacob Durtschi BS, Bryan Krock PhD, Tara M. Newcomb MS, Joshua L. Bonkowsky MD, PhD, Karl V. Voelkerding MD, Pinar Bayrak-Toydemir MD, PhD, Richard E. Lutz MD, Kathryn J. Swoboda MD

Publikováno v: Child Neurology Open, Vol 5 (2018)

Next-generation sequencing was performed for 2 families with an undiagnosed neurologic disease. Analysis revealed X-linked mutations in the proteolipid protein 1 ( PLP1 ) gene, which is associated with X-linked Pelizaeus-Merzbacher disease and Spasti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doajarticles::6283c848583bf2de6ad5977021c84961
https://doaj.org/article/9b8dd4cc8a39446ba57a2daf7a0446fa

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Neurofibromin Deficiency-Associated Transcriptional Dysregulation Suggests a Novel Therapy for Tibial Pseudoarthrosis in NF1

Autor: Carol Wise, Nobuhiro Kamiya, Nandina Paria, In Ho Choi, Ila Oxendine, Harry K.W. Kim, David W. Sant, Rebecca L. Margraf, Tae Joon Cho, Rong Mao, Mi Hyun Song, Gerlinde Obermosser, Jonathan J. Rios, Kay Kayembe, David Viskochil, David A. Stevenson

Publikováno v: Journal of Bone and Mineral Research. 29:2636-2642

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by mutations in NF1. Among the earliest manifestations is tibial pseudoarthrosis and persistent nonunion after fracture. To further understand the pathogenesis of pseudoarthrosis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f452405f4d273e37f827660584a47c5a
https://doi.org/10.1002/jbmr.2298

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Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

Autor: Karen Eilbeck, Brett Kennedy, Martin G. Reese, Rebecca L. Margraf, Karl V. Voelkerding, Marc Singleton, Chad D. Huff, Mark Yandell, Karin Chen, Stephen L. Guthery, Lynn B. Jorde, Jacob D. Durtschi

Publikováno v: The American Journal of Human Genetics. 94:599-610

Phevor integrates phenotype, gene function, and disease information with personal genomic data for improved power to identify disease-causing alleles. Phevor works by combining knowledge resident in multiple biomedical ontologies with the outputs of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e954b21cd7c8806fefdd09512055c83f
https://doi.org/10.1016/j.ajhg.2014.03.010

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