M Chaabouni
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Explore the profile of M Chaabouni including associated specialties, affiliations and a list of published articles.
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Articles
75
Citations
180
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Recent Articles
1.
Akkari M, Kraoua I, Klaa H, Benrhouma H, Ben Younes T, Rouissi A, et al.
Mol Genet Genomic Med
. 2020 Nov;
8(12):e1543.
PMID: 33135846
Background: Mutations in SQSTM1 gene have been recently identified as a rare cause of progressive childhood neurodegenerative disorder. So far, only 25 patients from 10 unrelated families were reported. Methods...
2.
Fedhila-Ben Ayed F, Douira-Khomsi W, Rhayem S, Jelassi M, Zribi H, Chaabouni M, et al.
Arch Pediatr
. 2016 Jan;
23(4):382-4.
PMID: 26774895
Background: Bloom syndrome is a rare disease characterized by chromosomal instability and increased risk of developing lymphoma. Observation: We report on a case of Bloom syndrome in a 5-year-old boy...
3.
Mhamdi O, Redin C, Stoetzel C, Ouertani I, Chaabouni M, Maazoul F, et al.
Clin Genet
. 2013 Feb;
85(2):172-7.
PMID: 23432027
Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare genetic disorder characterized by obesity, retinitis pigmentosa, post axial polydactyly, cognitive impairment, renal anomalies and hypogonadism. The aim of this study is...
4.
Chaabouni M, Messadi F, Fki L, M Z, Hammami A, Karray H
Pathol Biol (Paris)
. 2012 May;
60(3):170-3.
PMID: 22578467
Unlabelled: Acquiring rubella during the first 20 weeks of pregnancy can lead to teratogenic effects. Aim: The aim of the study was to investigate the impact of rubella vaccination strategy...
5.
Hammami N, Nagi S, Chaabouni M, Boudabous S, Drissi C, Sebai R, et al.
J Neuroradiol
. 2011 Apr;
38(5):308-12.
PMID: 21489632
Nonketotic hyperglycemia-induced hemichorea or hemiballism is a well-recognized entity that is rarely encountered. Particular computed tomography and magnetic resonance imaging findings have been described. The pathophysiological mechanism of this disease...
6.
Louati N, Feki L, Rekik H, Feki H, Chaabouni M, Hammami A, et al.
Arch Inst Pasteur Tunis
. 2010 Aug;
86(1-4):69-74.
PMID: 20707222
The aim of the study was to assess hepatitis A virus (HAV) seroprevalence in blood donors from South Tunisia in two periods 2000 and 2007. Serum samples collected from 376...
7.
Kharrat M, Trabelsi S, Chaabouni M, Maazoul F, Kraoua L, Ben Jemaa L, et al.
Clin Genet
. 2010 Mar;
78(4):398-401.
PMID: 20331679
Steroid 11β-hydroxylase deficiency is the second most common cause of congenital adrenal hyperplasia, resulting in virilization, glucocorticoid deficiency and hypertension. The 11β-hydroxylase enzyme is encoded by the CYP11B1 gene and...
8.
Kraoua L, Chaabouni M, Trabelsi M, Chelly I, Maazoul F, Ben Abdallah N, et al.
Clin Genet
. 2010 Mar;
77(6):601-3.
PMID: 20236120
No abstract available.
9.
Abaied L, Trabelsi M, Chaabouni M, Kharrat M, Kraoua L, Mrad R, et al.
Am J Med Genet A
. 2009 Dec;
152A(1):141-6.
PMID: 20034088
We identified in a large Tunisian pedigree a novel UBE3A frameshift mutation in exon 16 coding region, and we expect that the resulting UBE3A truncated protein in our patients is...
10.
Kamoun T, Djemal N, Ellouz M, Aloulou H, Chaabouni M, Mahfoudh A, et al.
Tunis Med
. 2009 May;
86(7):715-7.
PMID: 19472740
No abstract available.