- De novo trisomy 20p of paternal originMyriam Chaabouni
Faculte de Medecine de Tunis, Laboratoire de Génétique Humaine, Tunisie
Am J Med Genet A 143:1100-3. 2007..This is one of the rare reports with almost pure trisomy 20p characterized at the molecular level. Its phenotype is compared to other similar cases described in the literature...
- Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case reportMyriam Chaabouni
Faculté de Medecine Tunis, Laboratory of Human Genetics, Tunis, Tunisia
Am J Med Genet A 146:1825-7. 2008..Facial midline anomalies associated with limb and genitourinary anomalies is very uncommon. We present the third case reported in the literature...
- Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segmentMyriam Chaabouni
Service de Cytogénétique, INSERM, Paris, France
Invest Ophthalmol Vis Sci 51:4380-6. 2010..3q12.1)t(2;16)(q12.1;q12.2), was characterized at the molecular level, to identify candidate genes implicated in ASOD...
- Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardationManèl Chograni
University Tunis Elmanar, Laboratoire Génétique Humaine, Tunis, Tunisia
BMC Ophthalmol 11:35. 2011..To identify the genetic defect associated with autosomal recessive congenital cataract (ARCC), mental retardation (MR) and ARCC, MR and microcephaly present in most patients in four Tunisian consanguineous families...
- Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case reportLilia Kraoua
Charles Nicolle Hospital, Department of Congenital and Hereditary Diseases, Tunis, Tunisia
Eur J Med Genet 54:e446-50. 2011..This report supports the previous observations assuming that severity of phenotype in patients with SMC(15) depends on the dosage of the PWACR and that skin pigmentation is correlated to OCA2 gene copy number...
- [Molecular diagnosis of fragile X syndrome]Lamia Ben Jemaa
Service des maladies congénitales et héréditaires, EPS Charles Nicolle, Tunis, Tunisie
Tunis Med 86:973-7. 2008..In the most cases there is a family history of mental retardation with medium age at 11 years. All the boys with the full mutation have mental retardation, dysmorphic features and macro-orchidism (pubescent boy)..
- Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardationManèl Chograni
Faculte de Medecine de Tunis, Laboratoire Génétique Humaine, Tunis, Tunisia
Mol Vis 16:582-5. 2010..In the current study, a family with autosomal recessive congenital cataract (ARCC) associated with mental retardation (MR) was examined to identify PITX3 mutations...
- A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasiaInes Ouertani
Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia
Eur J Med Genet 52:256-9. 2009..3q32.2) covering nearly 24Mb. This abnormality was associated to phenotypic manifestations, mainly peculiar face, developmental delay and hypoplastic corpus callosum...
- The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomalyManèl Chograni
Faculte de Medecine de Tunis, Laboratoire de Génétique Humaine, Tunis, Tunisia
Eur J Hum Genet 19:851-6. 2011..This is the first report of a missense NHS mutation causing NHS phenotype (including cardiac defects). We hypothesize also that the non-reported UTR-SNP of the exon 8 (3'-UTR) is specific to the Tunisian population...
- [Prenatal diagnosis of trisomy 21: the Tunisian experience]Dalenda Chelli
Service A de gynécologie obstétrique, centre de maternité et de néonatologie de Tunis, 1007 Tunis, Tunisie
Sante 18:199-203. 2008..Down syndrome (Trisomy 21) is the most common fetal chromosomal abnormality in humans. Its clinical signs are now well known. Methods for prenatal screening have advanced substantially in the past two decades...
- MEFV mutations in Tunisian patients suffering from familial Mediterranean feverHabiba Bouhamed Chaabouni
Faculte de Medicine, Laboratory of Human Genetics, 17 rue Jebel Lakhdar, Tunis 1007, Tunisia
Semin Arthritis Rheum 36:397-401. 2007..To identify the frequency and distribution of familial Mediterranean fever (FMF) gene (MEFV) mutations in Tunisian patients...