Amel Ben-Chehida

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Amel Ben-Chehida

Publications by authors named "Amel Ben-Chehida"

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15Publications

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Renal Involvement in 2 Siblings With Cockayne Syndrome.

Iran J Kidney Dis 2017 May;11(3):253-255

Department of Pediatrics, La Rabta Hospital; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.

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May 2017

A Founder Effect of c.257 + 2T > C Mutation in NCF2 Gene Underlies Severe Chronic Granulomatous Disease in Eleven Patients.

J Clin Immunol 2016 Aug 25;36(6):547-54. Epub 2016 May 25.

Laboratory of Transmission, Control and Immunobiology of Infections (LTCII), LR11IPT02, Institut Pasteur de Tunis, Pasteur, 1002, Tunis-Belvedere, Tunisia.

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August 2016

A de-novo large deletion of 2.8 kb produced in the ABCD1 gene causing adrenoleukodystrophy disease.

Biochem Cell Biol 2016 06 18;94(3):265-9. Epub 2016 Mar 18.

a Laboratory of Human Molecular Genetics, Faculty of Medicine of Sfax, Road Majida Boulila, 3029 Sfax, Tunisia.

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June 2016

A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome.

Eur J Med Genet 2016 Jan 9;59(1):16-9. Epub 2015 Dec 9.

Department of Paediatrics, La Rabta Hospital, Tunis, Tunisia; Tunis El Manar University, Faculty of Medicine of Tunis, Tunisia.

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January 2016

Splicing defects in ABCD1 gene leading to both exon skipping and partial intron retention in X-linked adrenoleukodystrophy Tunisian patient.

Neurosci Res 2015 Aug 31;97:7-12. Epub 2015 Mar 31.

Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax, Tunisia; Service de Génétique Médicale, Hôpital Hédi Chaker Sfax, Tunisia.

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August 2015

[Renal involvement in glycogen storage disease type 1: Practical issues].

Nephrol Ther 2015 Jul 6;11(4):240-5. Epub 2015 May 6.

Service de pédiatrie et maladies métaboliques héréditaires, hôpital la Rabta, Jabberi, 1007 Tunis, Tunisie.

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July 2015

Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.

Neurodegener Dis 2013 3;12(4):207-11. Epub 2013 May 3.

Laboratoire de Génétique Moléculaire Humaine, Faculté de Médecine de Sfax, Université de Sfax, Sfax, Tunisia.

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April 2014