M. Châabouni

发表

Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review

T. B. Younes, H. Benrhouma, H. Klaa, 2018, Neuropediatrics.

MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.

I. Touitou, N. Smaoui, H. Chaabouni, 2007, Seminars in arthritis and rheumatism.

Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation

H. Chaabouni, M. Châabouni, F. Maazoul, 2011, BMC ophthalmology.

Investigation of Four Genes Responsible for Autosomal Recessive Congenital Cataract and Highly Expressed in the Brain in Four Unrelated Tunisian Families

M. Châabouni, F. Maazoul, M. Chograni, 2012 .

Prenatal diagnosis of chromosome disorders in Tunisian population.

N. Smaoui, L. B. Jemaa, H. Chaabouni, 2001, Annales de genetique.

Analyse gntique du syndrome de Turner: tude tunisienne de 89 cas

I. Ouertani, H. Chaabouni, I. kammoun, 2008 .

[Genetic analysis of Turner syndrome: 89 cases in Tunisia].

I. Ouertani, H. Chaabouni, R. M’rad, 2008, Annales d'endocrinologie.

What is the Impact of Genetic Counseling and Prenatal Diagnosis in Genetic Diseases Prevention in an Arab Muslim Population ?

L. B. Jemaa, I. Ouertani, R. Mrad, 2008 .

A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree

H. Chaabouni, M. Kharrat, N. Tebib, 2010, American journal of medical genetics. Part A.

Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region.

S. Romana, M. Vekemans, M. Prieur, 2006, European journal of medical genetics.

Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy.

I. Ouertani, H. Chaabouni, L. Kraoua, 2013, European journal of medical genetics.

SQSTM1 mutation: Description of the first Tunisian case and literature review

H. Benrhouma, H. Klaa, A. Rouissi, 2020, Molecular genetics & genomic medicine.

De novo trisomy 20p of paternal origin

S. Romana, L. B. Jemaa, T. Attié-Bitach, 2007, American journal of medical genetics. Part A.

Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

C. Redin, H. Dollfus, C. Stoetzel, 2014, Clinical genetics.

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

G. Camerino, M. Carella, A. Brusco, 2014, European Journal of Human Genetics.

Y chromosome microdeletions in Tunisian infertile males.

H. Chaabouni, M. Châabouni, F. Maazoul, 2008, Pathologie-biologie.

Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment.

P. Calvas, S. Romana, M. Vekemans, 2010, Investigative ophthalmology & visual science.

Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report.

T. Liehr, I. Ouertani, H. Chaabouni, 2011, European journal of medical genetics.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

P. Striano, S. Bianca, J. Goraya, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family

N. Smaoui, H. Chaabouni, M. Châabouni, 2005, Clinical dysmorphology.

The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly

Lamia Ben Jemaa, L. B. Jemaa, Manèl Chograni, 2011, European Journal of Human Genetics.

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player

N. Thierry-Mieg, L. Pasquier, Flore Mietton, 2020, Human Genetics.

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player

N. Thierry-Mieg, L. Pasquier, Flore Mietton, 2020, Human genetics.

Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.

H. Kallel, N. Smaoui, J. Hejtmancik, 2006, Investigative ophthalmology & visual science.

Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

M. Vekemans, J. Martinovic, C. Turleau, 2006, European journal of medical genetics.

Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.

R. Desnick, S. Laradi, A. Miled, 2006, Molecular genetics and metabolism.

[Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families].

S. Laradi, R. Froissart, S. Khedhiri, 2007, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Mucopolysaccharidosis I: α-L-Iduronidase mutations in three Tunisian families

R. Desnick, S. Laradi, A. Miled, 2005, Journal of Inherited Metabolic Disease.

[Nonketotic hyperglycemia-induced hemiballism].

C. Drissi, M. Châabouni, S. Boudabous, 2011, Journal of neuroradiology. Journal de neuroradiologie.

Clinical and Molecular Cytogenetic Study of 38 Williams-Beuren Syndrome Tunisian Patients

I. Ouertani, H. Azzouz, L. Kraoua, 2014 .

Only two mutations detected in 15 Tunisian patients with 11β‐hydroxylase deficiency: the p.Q356X and the novel p.G379V

L. B. Jemaa, Y. Morel, S. Barsaoui, 2010, Clinical genetics.

A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia.

T. Attié-Bitach, I. Turki, I. Ouertani, 2009, European journal of medical genetics.

Autosomal recessive acro‐fronto‐facio‐nasal dysostosis associated with genitourinary anomalies: A third case report

H. Chaabouni, M. Berhouma, M. Châabouni, 2008, American Journal of Medical Genetics. Part A.

Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families

K. Derouiche, M. Châabouni, M. Chograni, 2014, Human Genome Variation.

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy.

Fernanda L. Sirota, J. Lupski, J. Casanova, 2021, American journal of human genetics.

MOSAIC TRISOMY 22 IN A MALFORMED NEWBORN FEMALE : A NEW CASE

A. Saâd, A. Amouri, M. Châabouni, 2022 .

Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation

M. Châabouni, M. Chograni, I. Chelly, 2010, Molecular vision.

Invited Lectures

L. Shaffer, Y. Fukushima, J. Barber, 2009, Chromosome Research.

Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form

Ossama K. Abou Hassan, Z. Kambris, G. Nemer, 2017, European Journal of Dermatology.

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

Fernanda L. Sirota, J. Lupski, J. Casanova, 2021, medRxiv.

Cryptic Rearrangements in Idiopathic Intellectual Disability Diagnosed by Molecular Cytogenetic Analysis

M. Gribaa, A. Saâd, L. B. Jemaa, 2012 .

Neuronal ceroïd‐lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series

C. Caillaud, S. Bekri, N. Miladi, 2022, Clinical genetics.

[Gaucher's disease in Tunisia (multicenter study)].

M. Hachicha, N. Chakroun, N. Tebib, 2004, La Revue de medecine interne.