Kambouris M - Search Results

1

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

Okashah S, Vasudeva D, El Jerbi A, Khodjet-El-Khil H, Al-Shafai M, Syed N, Kambouris M, Udassi S, Saraiva LR, Al-Saloos H, Udassi J, Al-Shafai KN. Okashah S, et al. Among authors: kambouris m. Genes (Basel). 2022 Jul 30;13(8):1369. doi: 10.3390/genes13081369. Genes (Basel). 2022. PMID: 36011280 Free PMC article.

2

Heterogeneity of the cystic fibrosis phenotype in a large kindred family in Qatar with cystic fibrosis mutation (I1234V).

Abdul Wahab A, Al Thani G, Dawod ST, Kambouris M, Al Hamed M. Abdul Wahab A, et al. Among authors: kambouris m. J Trop Pediatr. 2001 Apr;47(2):110-2. doi: 10.1093/tropej/47.2.110. J Trop Pediatr. 2001. PMID: 11336127

3

Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.

Fadda A, Butt F, Tomei S, Deola S, Lo B, Robay A, Al-Shakaki A, Al-Hajri N, Crystal R, Kambouris M, Wang E, Marincola FM, Fakhro KA, Cugno C. Fadda A, et al. Among authors: kambouris m. BMC Med Genet. 2016 Nov 17;17(1):84. doi: 10.1186/s12881-016-0346-7. BMC Med Genet. 2016. PMID: 27855655 Free PMC article.

4

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

Kambouris M, Thevenon J, Soldatos A, Cox A, Stephen J, Ben-Omran T, Al-Sarraj Y, Boulos H, Bone W, Mullikin JC; NISC Comparative Sequencing Program; Masurel-Paulet A, St-Onge J, Dufford Y, Chantegret C, Thauvin-Robinet C, Al-Alami J, Faivre L, Riviere JB, Gahl WA, Bassuk AG, Malicdan MC, El-Shanti H. Kambouris M, et al. Ann Clin Transl Neurol. 2016 Dec 20;4(1):26-35. doi: 10.1002/acn3.372. eCollection 2017 Jan. Ann Clin Transl Neurol. 2016. PMID: 28078312 Free PMC article.

5

Cystic fibrosis in a child from Syria.

Wahab AA, Janahi IA, Hebi S, al-Hamed M, Kambouris M. Wahab AA, et al. Among authors: kambouris m. Ann Trop Paediatr. 2002 Mar;22(1):53-5. doi: 10.1179/027249302125000157. Ann Trop Paediatr. 2002. PMID: 11926050 Review.

6

Rare CFTR mutation 1525-1G>A in a Pakistani patient.

Wahab A, Al Thani G, Dawod ST, Kambouris M, Al Hamed M. Wahab A, et al. Among authors: kambouris m. J Trop Pediatr. 2004 Apr;50(2):120-2. doi: 10.1093/tropej/50.2.120. J Trop Pediatr. 2004. PMID: 15088804

7

Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations.

Kambouris M, Banjar H, Moggari I, Nazer H, Al-Hamed M, Meyer BF. Kambouris M, et al. Eur J Pediatr. 2000 May;159(5):303-9. doi: 10.1007/s004310051277. Eur J Pediatr. 2000. PMID: 10834512

8

Geographic distribution of cystic fibrosis transmembrane regulator gene mutations in Saudi Arabia.

Banjar H, Kambouris M, Meyer BF, al-Mehaidib A, Mogarri I. Banjar H, et al. Among authors: kambouris m. Ann Trop Paediatr. 1999 Mar;19(1):69-73. doi: 10.1080/02724939992671. Ann Trop Paediatr. 1999. PMID: 10605524

9

Clinical, biochemical, and molecular characterization of patients with glutathione synthetase deficiency.

Al-Jishi E, Meyer BF, Rashed MS, Al-Essa M, Al-Hamed MH, Sakati N, Sanjad S, Ozand PT, Kambouris M. Al-Jishi E, et al. Among authors: kambouris m. Clin Genet. 1999 Jun;55(6):444-9. doi: 10.1034/j.1399-0004.1999.550608.x. Clin Genet. 1999. PMID: 10450861

10

Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.

Bohlega S, Van Goethem G, Al Semari A, Löfgren A, Al Hamed M, Van Broeckhoven C, Kambouris M. Bohlega S, et al. Among authors: kambouris m. Neuromuscul Disord. 2009 Dec;19(12):845-8. doi: 10.1016/j.nmd.2009.10.002. Epub 2009 Oct 22. Neuromuscul Disord. 2009. PMID: 19853444

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