Výsledky vyhledávání - "Patrick A. Lundquist"

Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss

Autor: Zhiyv Niu, Eric Zimmerman Zuckerman, Nipun A. Mistry, Nicole J. Boczek, Sarah Kester, Malinda L. Butz, Mariam I Stein, Amber McDonald, Sean C. Harrington, Melanie Meyer, Patrick A. Lundquist, Lisa A. Schimmenti, Linda Hasadsri

Publikováno v: The Journal of Applied Laboratory Medicine. 5:467-479

Background Deafness and hearing loss are common conditions that can be seen independently or as part of a syndrome and are often mediated by genetic causes. We sought to develop and validate a hereditary hearing loss panel (HHLP) to detect single nuc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::500d9695bc6f6c605aef21a6275062e1
https://doi.org/10.1093/jalm/jfaa021

Zobrazit plný text záznamu

A novel deletion of SNURF/SNRPN exon 1 in a patient with Prader-Willi-like phenotype

Autor: Patrick A. Lundquist, Beth A. Pitel, Yang Cao, Susan S. AlHumaidi, Umut Aypar, Eissa Faqeih

Publikováno v: European Journal of Medical Genetics. 60:416-420

Here we report the smallest deletion involving SNURF/SNRPN that causes major symptoms of Prader-Willi syndrome (PWS), including hypotonia, dysmorphic features, intellectual disability, and obesity. A female patient with the aforementioned and additio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::417a1925db267cfe34f5df631d2cce86
https://doi.org/10.1016/j.ejmg.2017.05.003

Zobrazit plný text záznamu

The Power of Proficiency Testing: Unraveling Single-Nucleotide Polymorphism Interference, With Potential Impact on Clinical Testing of Spinocerebellar Ataxia Type 3

Autor: W. Edward Highsmith, Karen E. Weck, Cristiane M. Ida, Patrick A. Lundquist

Publikováno v: Archives of pathologylaboratory medicine. 143(3)

Context.—The College of American Pathologists proficiency testing program has been instrumental in identifying problems in clinical testing.Objective.—To describe how this program was used to identify a single-nucleotide polymorphism that affects

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f5bcc0594f1965f6dc5af661f4a8b2d
https://pubmed.ncbi.nlm.nih.gov/30383393

Zobrazit plný text záznamu

C9orf72 Repeat Expansion Frequency among Patients with Huntington Disease Genetic Testing

Autor: D. Brian Dawson, Malinda L. Butz, Cristiane M. Ida, Patrick A. Lundquist

Publikováno v: Neuro-degenerative diseases. 18(5-6)

Background: European studies identified the C9orf72 repeat expansion as the most frequent genetic alteration in patients with Huntington disease (HD)-like phenotypes but negative HD genetic testing. Objective: To investigate C9orf72 repeat expansion

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cc310d66fb58cbb1f90cf725efe7f36
https://pubmed.ncbi.nlm.nih.gov/30336474

Zobrazit plný text záznamu

Does parent of origin matter? Methylation studies should be performed on patients with multiple copies of the Prader-Willi/Angelman syndrome critical region

Autor: D. Brian Dawson, Umut Aypar, Pamela R. Brodersen, Erik C. Thorland, Nicole L. Hoppman, Patrick A. Lundquist

Publikováno v: American Journal of Medical Genetics Part A. 164:2514-2520

Deletion of 15q11.2-q13 results in either Prader-Willi syndrome (PWS) or Angelman syndrome (AS) depending on the parent of origin. Duplication of the PWS/AS critical region (PWASCR) has also been reported in association with developmental delay and a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca8ff0615d789c1d788bcf5639971af2
https://doi.org/10.1002/ajmg.a.36663

Zobrazit plný text záznamu

Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy

Autor: Saurabh Baheti, Bruce W. Eckloff, Christopher J. Klein, D. Brian Dawson, Erik C. Thorland, Yanhong Wu, Wei Wang, Jared M. Evans, Patrick A. Lundquist, Steven S. Scherer, Peter James Dyck, Chen Wang

Objective: To assess the efficiency of target-enrichment next-generation sequencing (NGS) with copy number assessment in inherited neuropathy diagnosis. Methods: A 197 polyneuropathy gene panel was designed to assess for mutations in 93 patients with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3c0992f9c9f6885bb39185fc9d782b6
https://europepmc.org/articles/PMC4862246/

Zobrazit plný text záznamu

Development and validation of a comprehensive mutation and deletion detection assay for SDHB, SDHC, and SDHD

Autor: Stefan K.G. Grebe, Dragana Milosevic, Noemi Vidal-Folch, Kendall W. Cradic, Patrick A. Lundquist, Karel Pacak, Thanh-Truc Huynh

Publikováno v: Clinical Biochemistry. 43:700-704

Background Lack of sequencing validation and complexity of deletion testing hinder genetic diagnosis of SDH -associated paraganglioma/pheochromocytoma. Methods We developed sequencing assays and multiplex ligation-dependent probe amplification (MLPA)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67a2bc5870a0c95f87050be34a381ffd
https://doi.org/10.1016/j.clinbiochem.2010.01.016

Zobrazit plný text záznamu

Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance ofPTC1-like domains inNPC1

Autor: Pamela S. Karnes, Marc C. Patterson, John F. O'Brien, Cate Walsh Vockley, Patrick A. Lundquist, Karen Snow, Walter D. Park, Daniel L. Kraft

Publikováno v: Human Mutation. 22:313-325

The two known complementation groups of Niemann-Pick Type C disease, NPC1 and NPC2, result from non-allelic protein defects. Both the NPC1 and NPC2 (HE1) gene products are intimately involved in cholesterol and glycolipid trafficking and/or transport

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af0fc809784324eb381e4c9a0f46b7bb
https://doi.org/10.1002/humu.10255

Zobrazit plný text záznamu

Niemann-Pick C Variant Detection by Altered Sphingolipid Trafficking and Correlation with Mutations within a Specific Domain of NPC1

Autor: Christine L. Wheatley, Xiaofeng Sun, Walter D. Park, Vishwajeet Puri, Richard E. Pagano, David L. Marks, Marc C. Patterson, Daniel L. Kraft, Karen Snow, Patrick A. Lundquist, John F. O'Brien

Publikováno v: The American Journal of Human Genetics. 68(6):1361-1372

Niemann-Pick disease type C (NPC) is a fatal, autosomal recessive lipidosis characterized by lysosomal accumulation of unesterified cholesterol and multiple neurological symptoms, such as vertical supranuclear ophthalmoplegia, progressive ataxia, and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e748eea9458855e9b4897760a385f904

Zobrazit plný text záznamu

Development and clinical implementation of a combination deletion PCR and multiplex ligation-dependent probe amplification assay for detecting deletions involving the human α-globin gene cluster

Autor: Patrick A. Lundquist, Benjamin R. Kipp, Samantha E. Roellinger, W. Edward Highsmith, D. Brian Dawson

Publikováno v: The Journal of molecular diagnostics : JMD. 13(5)

The α-thalassemias are a group of hereditary disorders caused by reduced synthesis of the α-chain of hemoglobin. We have developed and tested an α-thalassemia assay that uses both multiplex ligation-dependent probe amplification (MLPA) with Lumine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7940ec296c6b1a890d82cecfd5681349
https://pubmed.ncbi.nlm.nih.gov/21708285

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání