Publications:

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Molecular targets for cystic fibrosis and therapeutic potential of monoclonal antibodies.

Saudi Pharmaceutical Journal : Spj : The Official Publication Of The Saudi Pharmaceutical Society

Moni, Sivakumar S SS; Al Basheer, Asmaa A

Publication Date: 2022-12

Variant appearance in text: CFTR: 416A>T; H139L

PubMed Link: 36601503

Variant Present in the following documents:

• Main text
• main.pdf

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Liver disease in cystic fibrosis patients in a tertiary care center in Saudi Arabia.

International Journal Of Pediatrics & Adolescent Medicine

Banjar, Hanaa H; AbdulAziz, Najlaa N; Khader, Jumana J; Ghomraoui, Firas F; Alansari, AbdulAziz A; Al-Hoshan, Abdulaziz A; AlKaf, Sara S; Aldakheel, Wajeeh W

Publication Date: 2022-06

Variant appearance in text: CFTR: His139Leu; rs76371115

PubMed Link: 35663788

Variant Present in the following documents:

• Main text
• main.pdf

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The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.

International Journal Of Pediatrics & Adolescent Medicine

Banjar, Hanaa H; Qeretli, Raef R; Ramadan, Ali A; Al-Ibraheem, Abdullah A; Bnatig, Fahad F

Publication Date: 2022-03

Variant appearance in text: CFTR: 416A>T; His139Leu; rs76371115

PubMed Link: 35573065

Variant Present in the following documents:

• Main text
• main.pdf

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs76371115

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

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Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.

International Journal Of Pediatrics & Adolescent Medicine

Banjar, Hanaa H; Al-Mogarri, Ibrahim I; Nizami, Imran I; Al-Haider, Sami S; AlMaghamsi, Talal T; Alkaf, Sara S; Al-Enazi, Abdulaziz A; Moghrabi, Nabil N

Publication Date: 2021-03

Variant appearance in text: CFTR: 416A>T; H139L; rs76371115

PubMed Link: 33718573

Variant Present in the following documents:

• Main text
• main.pdf

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Serum-Based Proteomics Profiling in Adult Patients with Cystic Fibrosis.

International Journal Of Molecular Sciences

Benabdelkamel, Hicham H; Alamri, Hanadi H; Okla, Meshail M; Masood, Afshan A; Abdel Jabar, Mai M; Alanazi, Ibrahim O IO; Alfadda, Assim A AA; Nizami, Imran I; Dasouki, Majed M; Abdel Rahman, Anas M AM

Publication Date: 2020-10-08

Variant appearance in text: CFTR: 416A>T; H139L

PubMed Link: 33050003

Variant Present in the following documents:

• Main text
• ijms-21-07415.pdf

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The prevalence of viral infections in children with cystic fibrosis in a tertiary care center in Saudi Arabia.

International Journal Of Pediatrics & Adolescent Medicine

Banjar, Hanaa H; Chaballout, Mohammad M; Karkour, Kawthar K; Al-Ghamdi, Hadeel H; Al-Mogarri, Ibrahim I; Al-Haider, Sami S; Nizami, Imran I; Raja, Rawia R; AlNakhli, Ali A

Publication Date: 2020-06

Variant appearance in text: CFTR: H139L

PubMed Link: 32292813

Variant Present in the following documents:

• Main text
• main.pdf

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Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Annals Of Saudi Medicine

Banjar, Hanaa Hasan HH; Tuleimat, Lin L; El Seoudi, Abdul Aziz Agha AAA; Mogarri, Ibrahim I; Alhaider, Sami S; Nizami, Imran Yaqoob IY; AlMaghamsi, Talal T; Alkaf, Sara Andulrahman SA; Moghrabi, Nabil N

Publication Date: 2020

Variant appearance in text: CFTR: 416A>T; His139Leu; rs76371115

PubMed Link: 32026723

Variant Present in the following documents:

• Main text
• 0256-4947.2020.15.pdf

View BVdb publication page

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The road for survival improvement of cystic fibrosis patients in Arab countries.

International Journal Of Pediatrics & Adolescent Medicine

Banjar, Hanaa H; Angyalosi, Gerhild G

Publication Date: 2015-06

Variant appearance in text: CFTR: H139L

PubMed Link: 30805437

Variant Present in the following documents:

• Main text
• main.pdf

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Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.

Genes

Mustafa, Abeer E AE; Faquih, Tariq T; Baz, Batoul B; Kattan, Rana R; Al-Issa, Abdulelah A; Tahir, Asma I AI; Imtiaz, Faiqa F; Ramzan, Khushnooda K; Al-Sayed, Moeenaldeen M; Alowain, Mohammed M; Al-Hassnan, Zuhair Z; Al-Zaidan, Hamad H; Abouelhoda, Mohamed M; Al-Mubarak, Bashayer R BR; Al Tassan, Nada A NA

Publication Date: 2018-05-22

Variant appearance in text: CFTR: 416A>T; H139L

PubMed Link: 29789446

Variant Present in the following documents:

• Main text
• genes-09-00267.pdf

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A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature.

Annals Of Thoracic Medicine

Chami, Hassan H; Arbid, Samer Abou SA; Badra, Rebecca R; Farra, Chantal C

Publication Date: 2017

Variant appearance in text: CFTR: H139L

PubMed Link: 29118863

Variant Present in the following documents:

• Main text
• ATM-12-290.pdf

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Nationwide genetic analysis for molecularly unresolved cystic fibrosis patients in a multiethnic society: implications for preconception carrier screening.

Molecular Genetics & Genomic Medicine

Behar, Doron M DM; Inbar, Ori O; Shteinberg, Michal M; Gur, Michal M; Mussaffi, Huda H; Shoseyov, David D; Ashkenazi, Moshe M; Alkrinawi, Soliman S; Bormans, Concetta C; Hakim, Fahed F; Mei-Zahav, Meir M; Cohen-Cymberknoh, Malena M; Dagan, Adi A; Prais, Dario D; Sarouk, Ifat I; Stafler, Patrick P; Bar Aluma, Bat El BE; Akler, Gidon G; Picard, Elie E; Aviram, Micha M; Efrati, Ori O; Livnat, Galit G; Rivlin, Joseph J; Bentur, Lea L; Blau, Hannah H; Kerem, Eitan E; Singer, Amihood A

Publication Date: 2017-05

Variant appearance in text: CFTR: 416A>T; His139Leu

PubMed Link: 28546993

Variant Present in the following documents:

• Main text

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Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations.

The Journal Of Pediatrics

Giefer, Matthew J MJ; Lowe, Mark E ME; Werlin, Steven L SL; Zimmerman, Bridget B; Wilschanski, Michael M; Troendle, David D; Schwarzenberg, Sarah Jane SJ; Pohl, John F JF; Palermo, Joseph J; Ooi, Chee Y CY; Morinville, Veronique D VD; Lin, Tom K TK; Husain, Sohail Z SZ; Himes, Ryan R; Heyman, Melvin B MB; Gonska, Tanja T; Gariepy, Cheryl E CE; Freedman, Steven D SD; Fishman, Douglas S DS; Bellin, Melena D MD; Barth, Bradley B; Abu-El-Haija, Maisam M; Uc, Aliye A

Publication Date: 2017-07

Variant appearance in text: CFTR: H139L

PubMed Link: 28502372

Variant Present in the following documents:

• Main text

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Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

Molecular Genetics & Genomic Medicine

Trujillano, Daniel D; Weiss, Maximilian E R ME; Köster, Julia J; Papachristos, Efstathios B EB; Werber, Martin M; Kandaswamy, Krishna Kumar KK; Marais, Anett A; Eichler, Sabrina S; Creed, Jenny J; Baysal, Erol E; Jaber, Iqbal Yousuf IY; Mehaney, Dina Ahmed DA; Farra, Chantal C; Rolfs, Arndt A

Publication Date: 2015-09

Variant appearance in text: CFTR: 416A>T; H139L; rs76371115

PubMed Link: 26436105

Variant Present in the following documents:

• Main text

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: CFTR: 416A>T; H139L; rs76371115

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM1_ESM.xls, sheet 1

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Arab gene geography: From population diversities to personalized medical genomics.

Global Cardiology Science & Practice

Tadmouri, Ghazi O GO; Sastry, Konduru S KS; Chouchane, Lotfi L

Publication Date: 2014

Variant appearance in text: CFTR: 416A>T

PubMed Link: 25780794

Variant Present in the following documents:

• Main text

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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society

Castellani, C C; Cuppens, H H; Macek, M M; Cassiman, J J JJ; Kerem, E E; Durie, P P; Tullis, E E; Assael, B M BM; Bombieri, C C; Brown, A A; Casals, T T; Claustres, M M; Cutting, G R GR; Dequeker, E E; Dodge, J J; Doull, I I; Farrell, P P; Ferec, C C; Girodon, E E; Johannesson, M M; Kerem, B B; Knowles, M M; Munck, A A; Pignatti, P F PF; Radojkovic, D D; Rizzotti, P P; Schwarz, M M; Stuhrmann, M M; Tzetis, M M; Zielenski, J J; Elborn, J S JS

Publication Date: 2008-05

Variant appearance in text: CFTR: H139L

PubMed Link: 18456578

Variant Present in the following documents:

• Main text

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