Výsledky vyhledávání - "Yosr Bouhlal"

Integrated genomic characterization of ERBB2/HER2 alterations in invasive breast carcinoma: a focus on unusual FISH groups

Autor: Yosr Bouhlal, Soo-Ryum Yang, Anna Vilborg, Francisco M. De La Vega, Calvin J. Kuo, Kimberly H. Allison, Greg Jensen, Morgan Ballard

Publikováno v: Modern Pathology. 33:1546-1556

In patients with invasive breast cancer, fluorescence in situ hybridization (FISH) testing for HER2 typically demonstrates the clear presence or lack of ERBB2 (HER2) amplification (i.e., groups 1 or 5). However, a small subset of patients can present

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86d05b2af7a05f91a0f165531ea6b706
https://doi.org/10.1038/s41379-020-0504-5

Zobrazit plný text záznamu

Abstract P3-10-12: ERBB2 copy number analysis of invasive breast carcinoma using digital droplet PCR and targeted next-generation sequencing: A focus on 'non-classical' HER2 FISH groups using the 2018 ASCO/CAP HER2 testing guideline

Autor: Yosr Bouhlal, Kimberly H. Allison, Morgan Ballard, Richard K. Sibley, FM De La Vega, Calvin J. Kuo, S.S. Yang, Anna Vilborg, Robert B. West

Publikováno v: Cancer Research. 79:P3-10

Background: Non-classical HER2 FISH results were recently reclassified in the 2018 HER2 guidelines update, and concurrent IHC testing was recommended as part of additional workup to determine the final HER2 status in these groups. In this study, we e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c0cbcb7290d93bbb38f0a5fee1ad6aa3
https://doi.org/10.1158/1538-7445.sabcs18-p3-10-12

Zobrazit plný text záznamu

A robust targeted sequencing approach for low input and variable quality DNA from clinical samples

Autor: Ryan T. Koehler, Federico Goodsaid, Jason Stein, Francisco M. De La Vega, Yosr Bouhlal, Susan M. Grimes, Austin P. So, Janet S. Ziegle, Hanlee P. Ji, Daniel Mendoza, Michael Y. Lucero, Yannick Pouliot, Anna Vilborg

Publikováno v: NPJ Genomic Medicine
npj Genomic Medicine, Vol 3, Iss 1, Pp 1-10 (2018)

Next-generation deep sequencing of gene panels is being adopted as a diagnostic test to identify actionable mutations in cancer patient samples. However, clinical samples, such as formalin-fixed, paraffin-embedded specimens, frequently provide low qu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e724719daa7fdec3d69fab28f9f7a75
http://europepmc.org/articles/PMC5768874

Zobrazit plný text záznamu

Abstract A2-40: TOMA OS-seq™: A high efficiency targeted resequencing strategy for detecting gene amplifications, rearrangements, indels, and point mutations in tumor DNA isolated from FFPE solid tumors and plasma

Autor: Alexander McKenzie, Yosr Bouhlal, Austin P. So

Publikováno v: Cancer Research. 75:A2-40

Critical genetic errors, namely specific mutations, are required for the development and maintenance of cancer. Molecular diagnostics that leverage the breadth of next-generation sequencing (NGS) to identify this mutational landscape are therefore be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::abe56f09b77587183018d5c8e00cdfc8
https://doi.org/10.1158/1538-7445.transcagen-a2-40

Zobrazit plný text záznamu

Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency

Autor: Ghada El Euch-Fayache, Moncef Feki, Yosr Bouhlal, Rim Amouri, Fayçal Hentati

Publikováno v: Brain. 137:402-410

Ataxia with vitamin E deficiency is an autosomal recessive cerebellar ataxia caused by mutations in the α-tocopherol transfer protein coding gene localized on chromosome 8q, leading to lower levels of serum vitamin E. More than 91 patients diagnosed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2870f11526b3ddfed20725b348db79f7
https://doi.org/10.1093/brain/awt339

Zobrazit plný text záznamu

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

Publikováno v: Neuro-degenerative diseases. 17(4-5)

Background: Autosomal recessive cerebellar ataxias (ARCA) are a complex group of neurodegenerative disorders with high clinical and genetic heterogeneity. In most cases, the cerebellar ataxia is not pure, and complicating clinical features such as py

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::274f8f5a2085b48b708286c483e9c28d
https://pubmed.ncbi.nlm.nih.gov/28558379

Zobrazit plný text záznamu

Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays

Publikováno v: Journal of Neurology. 258:56-67

The diagnosis of rare inherited diseases is becoming more and more complex as an increasing number of clinical conditions appear to be genetically heterogeneous. Multigenic inheritance also applies to the autosomal recessive progressive cerebellar at

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de125cd3a0a01ae31a78369bf07894cc
https://doi.org/10.1007/s00415-010-5682-5

Zobrazit plný text záznamu

Autosomal Recessive Ataxia Caused by Three Distinct Gene Defects in a Single Consanguineous Family

Autor: Christiane Ben Hamida, Rim Amouri, Yosr Bouhlal, Fayçal Hentati, M. Kefi, Mourad Zouari

Publikováno v: Journal of Neurogenetics. 22:139-148

Autosomal recessive cerebellar ataxias are a group of clinically and genetically heterogeneous neurodegenerative disorders. Growing data have shown that there is difficulty with genetic counseling in a deeply consanguineous population because of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0896d3e1fcd8d5bf4b3cc62294355439
https://doi.org/10.1080/01677060802025233

Zobrazit plný text záznamu

Plný text ve formátu HTML

Abstract 4019: A PCR-bias free capture-based library preparation platform permitting highly accurate and sensitive CNA detection in tumor molecular profiling and liquid biopsy

Autor: Federico Goodsaid, Anna Vilborg, Francisco M. De La Vega, Yosr Bouhlal, Hanlee P. Ji, Austin P. So, Ryan Koheler, Yannick Pouliot, Daniel Mendoza

Publikováno v: Cancer Research. 77:4019-4019

Next Generation Sequencing is increasingly implemented as a diagnostic test to identify actionable mutations in cancer patient samples. However, for routine diagnostics, tumor DNA is extracted from formalin-fixed, paraffin-embedded (FFPE) samples, wh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::031aa645afc68c6af09715744c7e05a7
https://doi.org/10.1158/1538-7445.am2017-4019

Zobrazit plný text záznamu

Abstract 2712: Joint somatic mutation and germline variant identification and scoring from tumor molecular profiling and ct-DNA monitoring of cancer patients by high-throughput sequencing

Autor: Federico Goodsaid, Yannick Pouliot, Lincoln Nadauld, Yosr Bouhlal, Austin P. So, Ryan T. Koehler, Francisco M. Vega, Len Trigg, Sean A. Irvine

Publikováno v: Cancer Research. 76:2712-2712

Cancer tumor profiling by targeted resequencing of actionable cancer genes is rapidly becoming the standard approach for selecting targeted therapies and clinical trials in refractory cancer patients. In this clinical scenario, a tumor sample is obta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8cfb52e6f337ad31e810087bc19b0449
https://doi.org/10.1158/1538-7445.am2016-2712

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání