Výsledky vyhledávání - "Qasim Alharbi"

Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management

Autor: Ali Mir, Montaha AlMudhry, Wajd AlOtaibi, Rami AlHazmi, Raidah AlBaradie, Qasim AlHarbi, Shahid Bashir, Omar Chamdine, Yousef Housawi

Publikováno v: Journal of Pediatric Hematology/Oncology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::539b34475213b982209c846d50da1231
https://doi.org/10.1097/mph.0000000000002641

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Frequency of pathogenic/likely pathogenic germline variants in cancer‐related genes among children with acute leukemia in Saudi Arabia

Autor: Abdullah Al-Jefri, Shaker Abdullah, Mohammed F. Essa, Faisal Al-Anzi, Nawaf Alkhayat, Wasil Jastaniah, Mouhab Ayas, Qasim Alharbi, Abdulrahman Alsultan, Fawwaz Yassin, Musa Alharbi, Fawaz Alkasim

Publikováno v: Pediatric Blood & Cancer. 67

Background The frequency of pathogenic/likely pathogenic (P/LP) germline mutations in cancer-related genes among children with cancer in highly consanguineous populations is not well studied. Methods Whole-exome sequencing of germline DNA was perform

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::972db7a165a2f0ba623d954de3fda76e
https://doi.org/10.1002/pbc.28340

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Prevalence of hereditary cancer susceptibility syndromes in children with cancer in a highly consanguineous population

Autor: Faisal Al-Anzi, Nawaf Alkhayat, Fawaz Alkasim, Abdullah Al-Jefri, Mohammed Burhan Abrar, Abdulrahman Alsultan, Qasim Alharbi, Fawwaz Yassin, Shaker Abdullah, Mouhab Ayas, Musa Alharbi, Wasil Jastaniah

Publikováno v: Cancer Epidemiology. 55:88-95

Background & aim Hereditary cancer susceptibility syndromes (HCSS) are reported in up to one-third of children with cancer. Diagnosis of HCSS is crucial for implementation of surveillance protocols. We identified children who fulfilled criteria for H

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5115611323c657f4b486dbf83237a0d3
https://doi.org/10.1016/j.canep.2018.05.006

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Demographic and histopathological patterns of neuro-epithelial brain tumors in Eastern Province of Saudi Arabia

Autor: Ahmed M Alwbari, Mahmoud S. Taha, Fahad Almsned, Ibrahim Atean, Mohammed A Hassen, Qasim Alharbi, Marwah M Abdulkader, Husam Saleh Al-Muhaish

Publikováno v: Neurosciences

Objectives: To review the demographic and pathological pattern of neuro-epithelial brain tumors in a tertiary referral center in the Eastern Province of Saudi Arabia and to compare the results of our study with other national and international studie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4d72b2d93c0081c2ed0767eb1c08bf5
http://europepmc.org/articles/PMC6751907

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Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium

Publikováno v: American Journal of Gastroenterology. 111:275-284

Hereditary biallelic mismatch repair deficiency (BMMRD) is caused by biallelic mutations in the mismatch repair (MMR) genes and manifests features of neurofibromatosis type 1, gastrointestinal (GI) polyposis, and GI, brain, and hematological cancers.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87aab68ccc2dc50311346ccb56632a05
https://doi.org/10.1038/ajg.2015.392

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High-dose Chemotherapy With Autologous Stem Cell Rescue in Saudi Children Less Than 3 Years of Age With Embryonal Brain Tumors

Autor: Reem Al-Sudairy, Qasim Alharbi, Khalid Aljamaan, Ali Al-Omari, Yasser Bayoumi, Talal Al-Harbi, Sadeq Al-Dandan, Othman Musleh, Musa Alharbi, Mohammed Jarrar, Abdulrahman Alsultan

Publikováno v: Journal of Pediatric Hematology/Oncology. 37:204-208

High-dose chemotherapy with autologous stem cell rescue (HDC/ASCR) has been used in children under the age of 3 years with embryonal brain tumors to avoid or delay the use of radiation. We reviewed the medical records of 10 Saudi children less than 3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cd74b6f5cd7ff7debc4ceac0e086d4a
https://doi.org/10.1097/mph.0000000000000301

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Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: Report from the constitutional mismatch repair deficiency consortium

Publikováno v: European Journal of Cancer. 50:987-996

Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which data regarding clinical manifestations, molecular screening tools and management are limited.We established an international CMMRD consortium

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::498bc77534a7161d8f6fe34d32088e8b
https://doi.org/10.1016/j.ejca.2013.12.005

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548 Gastrointestinal (GI) Findings in Patients With Biallelic Mismatch Repair (BMMRD) Gene Deficiency Syndrome: Report From the International Consortium

Publikováno v: Gastroenterology. 148:S-110

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d461e8a6372e1df1e16dae2693b09b6e
https://doi.org/10.1016/s0016-5085(15)30380-2

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Abstract 35: Novel genetic and clinical determinants of Constitutional Mismatch Repair Deficiency syndrome: Report from the CMMRD consortium

Publikováno v: Cancer Research. 74:35-35

Purpose: Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome affecting children born with two mutated alleles in one of four mismatch repair genes. Data regarding clinical manifestations, molecular screen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::28d85ceb8eee12d4340101a70de43e84
https://doi.org/10.1158/1538-7445.cansusc14-35

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