Publications by authors named "Nizar Smaoui"

23Publications

Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene.

Doc Ophthalmol 2015 Apr 3;130(2):157-64. Epub 2015 Jan 3.

Department of Ophthalmology, Hamilton Eye Institute, University of Tennessee Health Science Center, 930 Madison Ave, Suite 731, Memphis, TN, 38103, USA.

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http://link.springer.com/10.1007/s10633-014-9477-3
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http://dx.doi.org/10.1007/s10633-014-9477-3DOI Listing
April 2015

Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL).

Am J Med Genet A 2014 Aug 12;164A(8):2079-83. Epub 2014 May 12.

Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California.

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http://doi.wiley.com/10.1002/ajmg.a.36590
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http://dx.doi.org/10.1002/ajmg.a.36590DOI Listing
August 2014

Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.

Eur J Med Genet 2014 Mar 27;57(4):181-4. Epub 2014 Feb 27.

Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.02.009DOI Listing
March 2014

Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis.

Mol Vis 2013 7;19:2209-16. Epub 2013 Nov 7.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute (NEI), National Institutes of Health (NIH), Bethesda, MD.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820431PMC
March 2014

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

Invest Ophthalmol Vis Sci 2011 Nov 25;52(12):9053-60. Epub 2011 Nov 25.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, 10 Center Drive, Bethesda,MD 20892, USA.

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http://dx.doi.org/10.1167/iovs.11-7978DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3231844PMC
November 2011

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

Invest Ophthalmol Vis Sci 2011 Jul 18;52(8):5317-24. Epub 2011 Jul 18.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20852, USA.

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http://dx.doi.org/10.1167/iovs.11-7554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3176075PMC
July 2011

Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study.

Invest Ophthalmol Vis Sci 2009 Nov 27;50(11):5375-83. Epub 2009 May 27.

Section for Translational Research in Retinal and Macular Degeneration, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1167/iovs.09-3839DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2784021PMC
November 2009

Choroideremia: analysis of the retina from a female symptomatic carrier.

Ophthalmic Genet 2008 Sep;29(3):99-110

The Cleveland Clinic Foundation, The Cole Eye Institute, Cleveland, Ohio 44195, USA.

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http://dx.doi.org/10.1080/13816810802206499DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652314PMC
September 2008

Clinical and genetic heterogeneity of crystalline retinopathies: report of two families without bietti crystalline dystrophy.

Retin Cases Brief Rep 2007 ;1(4):232-5

From *Howard University Hospital, Washington, DC; and †Ophthalmic Genetics and Visual Function Branch, ‡Laboratory of Immunology, NEI, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1097/01.iae.0000232165.56434.b5DOI Listing
November 2014

MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.

Semin Arthritis Rheum 2007 Jun 5;36(6):397-401. Epub 2007 Feb 5.

Faculté de Médicine, Laboratory of Human Genetics, 17 rue Jebel Lakhdar, Tunis 1007, Tunisia.

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http://dx.doi.org/10.1016/j.semarthrit.2006.12.004DOI Listing
June 2007

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

Invest Ophthalmol Vis Sci 2006 Aug;47(8):3487-95

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1167/iovs.05-1334DOI Listing
August 2006

Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family.

Clin Dysmorphol 2005 Jan;14(1):23-5

Laboratoire de génétique humaine faculté de médecine de Tunis et service maladies héréditaires hôpital Charles Nicolle, Tunis.

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http://dx.doi.org/10.1097/00019605-200501000-00005DOI Listing
January 2005

A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.

Invest Ophthalmol Vis Sci 2004 Aug;45(8):2716-21

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1167/iovs.03-1370DOI Listing
August 2004

Molecular genetics of cataract.

Dev Ophthalmol 2003 ;37:67-82

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Md., USA.

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http://dx.doi.org/10.1159/000072039DOI Listing
September 2003