Literature DB >> 18565096

Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families.

M Faiyaz-Ul-Haque, S H E Zaidi, A A Wahab, A Eltohami, M S Al-Mureikhi, G Al-Thani, V D Peltekova, L-C Tsui, A S Teebi.   

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Year:  2008        PMID： 18565096     DOI： 10.1111/j.1399-0004.2008.01049.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  9 in total

1.  Exome sequencing identifies potential risk variants for Mendelian disorders at high prevalence in Qatar.

Authors:  Juan L Rodriguez-Flores; Khalid Fakhro; Neil R Hackett; Jacqueline Salit; Jennifer Fuller; Francisco Agosto-Perez; Maey Gharbiah; Joel A Malek; Mahmoud Zirie; Amin Jayyousi; Ramin Badii; Ajayeb Al-Nabet Al-Marri; Lotfi Chouchane; Dora J Stadler; Jason G Mezey; Ronald G Crystal
Journal:  Hum Mutat       Date:  2013-11-10       Impact factor: 4.878

2.  Clinical utility gene card for: Arterial tortuosity syndrome.

Authors:  Juliette Albuisson; Pamela Moceri; Elisabeth Flori; Emre Belli; Céline Gronier; Xavier Jeunemaitre
Journal:  Eur J Hum Genet       Date:  2015-01-21       Impact factor: 4.246

3.  A novel non-sense mutation in the SLC2A10 gene of an arterial tortuosity syndrome patient of Kurdish origin.

Authors:  Syed H E Zaidi; Sascha Meyer; Vanya D Peltekova; Angelika Lindinger; Ahmad S Teebi; Muhammad Faiyaz-Ul-Haque
Journal:  Eur J Pediatr       Date:  2008-09-26       Impact factor: 3.183

4.  Arterial tortuosity syndrome in two Italian paediatric patients.

Authors:  Marco Ritelli; Bruno Drera; Mariano Vicchio; Giovanni Puppini; Paolo Biban; Mara Pilati; Maria Antonia Prioli; Sergio Barlati; Marina Colombi
Journal:  Orphanet J Rare Dis       Date:  2009-09-25       Impact factor: 4.123

Review 5.  Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.

Authors:  Marco Ritelli; Nicola Chiarelli; Chiara Dordoni; Elena Reffo; Marina Venturini; Stefano Quinzani; Matteo Della Monica; Gioacchino Scarano; Giuseppe Santoro; Maria Giovanna Russo; Piergiacomo Calzavara-Pinton; Ornella Milanesi; Marina Colombi
Journal:  BMC Med Genet       Date:  2014-11-06       Impact factor: 2.103

Review 6.  Arterial Tortuosity Syndrome: An Approach through Imaging Perspective.

Authors:  Venkatraman Bhat
Journal:  J Clin Imaging Sci       Date:  2014-08-30

7.  Clinical genetics and genomic medicine in Qatar.

Authors:  Nader Al-Dewik; Mariam Al-Mureikhi; Noora Shahbeck; Rehab Ali; Fatma Al-Mesaifri; Laila Mahmoud; Amna Othman; Mariam AlMulla; Reem Al Sulaiman; Sara Musa; Ghassan Abdoh; Karen El-Akouri; Benjamin D Solomon; Tawfeg Ben-Omran
Journal:  Mol Genet Genomic Med       Date:  2018-09       Impact factor: 2.183

Review 8.  Glucose Transport and Transporters in the Endomembranes.

Authors:  Beáta Lizák; András Szarka; Yejin Kim; Kyu-Sung Choi; Csilla E Németh; Paola Marcolongo; Angelo Benedetti; Gábor Bánhegyi; Éva Margittai
Journal:  Int J Mol Sci       Date:  2019-11-24       Impact factor: 5.923

9.  Investigation of Genetic Causes in Patients with Congenital Heart Disease in Qatar: Findings from the Sidra Cardiac Registry.

Authors:  Sarah Okashah; Dhanya Vasudeva; Aya El Jerbi; Houssein Khodjet-El-Khil; Mashael Al-Shafai; Najeeb Syed; Marios Kambouris; Sharda Udassi; Luis R Saraiva; Hesham Al-Saloos; Jai Udassi; Kholoud N Al-Shafai
Journal:  Genes (Basel)       Date:  2022-07-30       Impact factor: 4.141
  9 in total

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