Myriam Chaabouni

Summary

Country: France

Publications

  1. ncbi request reprint De novo trisomy 20p of paternal origin
    Myriam Chaabouni
    Faculte de Medecine de Tunis, Laboratoire de Génétique Humaine, Tunisie
    Am J Med Genet A 143:1100-3. 2007
  2. doi request reprint Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report
    Myriam Chaabouni
    Faculté de Medecine Tunis, Laboratory of Human Genetics, Tunis, Tunisia
    Am J Med Genet A 146:1825-7. 2008
  3. doi request reprint Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment
    Myriam Chaabouni
    Service de Cytogénétique, INSERM, Paris, France
    Invest Ophthalmol Vis Sci 51:4380-6. 2010
  4. pmc Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation
    Manèl Chograni
    University Tunis Elmanar, Laboratoire Génétique Humaine, Tunis, Tunisia
    BMC Ophthalmol 11:35. 2011
  5. doi request reprint Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report
    Lilia Kraoua
    Charles Nicolle Hospital, Department of Congenital and Hereditary Diseases, Tunis, Tunisia
    Eur J Med Genet 54:e446-50. 2011
  6. ncbi request reprint [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
  7. pmc Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation
    Manèl Chograni
    Faculte de Medecine de Tunis, Laboratoire Génétique Humaine, Tunis, Tunisia
    Mol Vis 16:582-5. 2010
  8. doi request reprint A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia
    Ines Ouertani
    Department of Congenital and Hereditary Diseases, Charles Nicolle Hospital, Tunis, Tunisia
    Eur J Med Genet 52:256-9. 2009
  9. pmc The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly
    Manèl Chograni
    Faculte de Medecine de Tunis, Laboratoire de Génétique Humaine, Tunis, Tunisia
    Eur J Hum Genet 19:851-6. 2011
  10. ncbi request reprint [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

Collaborators

Detail Information

Publications11

  1. ncbi request reprint De novo trisomy 20p of paternal origin
    Myriam 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...
  2. doi request reprint Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report
    Myriam 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...
  3. doi request reprint Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment
    Myriam 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...
  4. pmc Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation
    Manèl 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...
  5. doi request reprint Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report
    Lilia 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...
  6. ncbi request reprint [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)..
  7. pmc Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation
    Manèl 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...
  8. doi request reprint A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia
    Ines 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...
  9. pmc The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly
    Manèl 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...
  10. ncbi request reprint [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...
  11. ncbi request reprint MEFV mutations in Tunisian patients suffering from familial Mediterranean fever
    Habiba 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...