Published in Clin Dysmorphol on January 01, 2005
TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression. Am J Hum Genet (2007) 1.23
The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice. Development (2008) 1.16
Loss-of-function mutation in the X-linked TBX22 promoter disrupts an ETS-1 binding site and leads to cleft palate. Hum Genet (2014) 0.78
Null mutations in Drosophila Optomotor-blind affect T-domain residues conserved in all Tbx proteins. Mol Genet Genomics (2009) 0.76
Non-syndromic cleft palate: analysis of TBX22 exon 5 gene mutation. Arch Med Sci (2012) 0.75
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet (2002) 2.30
Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation. Am J Psychiatry (2006) 2.05
RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis. Invest Ophthalmol Vis Sci (2004) 1.77
A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci (2004) 1.71
Molecular genetics of cataract. Dev Ophthalmol (2003) 1.57
Peripheral retinal nonperfusion in septo-optic dysplasia (de Morsier syndrome). Arch Ophthalmol (2011) 1.39
Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene. Invest Ophthalmol Vis Sci (2011) 1.05
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. Invest Ophthalmol Vis Sci (2011) 1.05
High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. Invest Ophthalmol Vis Sci (2011) 1.01
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. Invest Ophthalmol Vis Sci (2006) 0.99
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders. Genet Med (2012) 0.98
Choroideremia: analysis of the retina from a female symptomatic carrier. Ophthalmic Genet (2008) 0.97
Consanguinity and endogamy in Northern Tunisia and its impact on non-syndromic deafness. Genet Epidemiol (2004) 0.92
A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9. Hum Genet (2008) 0.91
Autism: an overview of genetic aetiology. Tunis Med (2008) 0.90
De novo trisomy 20p of paternal origin. Am J Med Genet A (2007) 0.90
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome. Pediatr Nephrol (2013) 0.89
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation. J Clin Endocrinol Metab (2004) 0.86
A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features. Eur J Hum Genet (2008) 0.86
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) 0.85
CARD15/NOD2 in a Tunisian population with Crohn's disease. Dig Dis Sci (2005) 0.85
The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly. Eur J Hum Genet (2011) 0.84
Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis. Mol Vis (2013) 0.84
Tolllike receptor 4 (TLR4) polymorphisms in Tunisian patients with Crohn's disease: genotype-phenotype correlation. BMC Gastroenterol (2009) 0.84
Molecular analysis of the SMN1 and NAIP genes in 60 Tunisian spinal muscular atrophy patients. Tunis Med (2006) 0.82
Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE). Arch Ophthalmol (2008) 0.82
Exploring the 7p22.1 chromosome as a candidate region for autism. J Biomed Biotechnol (2010) 0.82
GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness. Int J Pediatr Otorhinolaryngol (2013) 0.82
Pallister-Killian syndrome with additional manifestations of cleft palate and sacral appendage. Tunis Med (2010) 0.80
[First trimester ultrasound: an early screening tool for fetal structural and chromosomal abnormalities]. Tunis Med (2009) 0.80
The creatine transporter gene paralogous at 16p11.2 is expressed in human brain. Comp Funct Genomics (2008) 0.80
Crohn's disease and polymorphism of heat shock protein gene HSP70-2 in the Tunisian population. Eur J Gastroenterol Hepatol (2007) 0.78
[The odontogenic maxillary sinusitis: 31 cases]. Tunis Med (2007) 0.78
De novo duplication 11p13 involving the PAX6 gene in a patient with neonatal seizures, hypotonia, microcephaly, developmental disability and minor ocular manifestations. Am J Med Genet A (2011) 0.78
Hexasomy of the Prader-Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: case report. Eur J Med Genet (2011) 0.78
A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation. Eur J Med Genet (2011) 0.77
De novo balanced translocation t (7;16) (p22.1; p11.2) associated with autistic disorder. J Biomed Biotechnol (2008) 0.77
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). Am J Med Genet A (2014) 0.77
X linked mental retardation. Tunis Med (2009) 0.77
MEFV mutations in Tunisian patients suffering from familial Mediterranean fever. Semin Arthritis Rheum (2007) 0.77
Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies: a third case report. Am J Med Genet A (2008) 0.76
Clinical and genetic analysis of two Tunisian otosclerosis families. Am J Med Genet A (2007) 0.75
MLPA subtelomere analysis in Tunisian mentally retarded patients. Biochem Genet (2009) 0.75
[Genetics of inflammatory bowel disease]. Tunis Med (2004) 0.75
[Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial]. Tunis Med (2007) 0.75
[Interest of studying subtelomeric abnormalities by in situ fluorescent hybridization to explore idiopathic mental retardation]. Tunis Med (2008) 0.75
A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia. Eur J Med Genet (2009) 0.75
Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy. Eur J Med Genet (2012) 0.75
Detection of a frequent duplicated CYP21A2 gene carrying a Q318X mutation in a general population with quantitative PCR methods. Diagn Mol Pathol (2011) 0.75
Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome. J Pediatr Endocrinol Metab (2016) 0.75
A novel 13-bp deletion in exon 1 of CYP21 gene causing severe congenital adrenal hyperplasia. Diagn Mol Pathol (2005) 0.75
Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene. Doc Ophthalmol (2015) 0.75
[Retrocervical cystic hygroma: about 35 cases]. Tunis Med (2002) 0.75
[Cervical thymic cysts]. Tunis Med (2008) 0.75
[Molecular diagnosis of fragile X syndrome]. Tunis Med (2008) 0.75
[Study of dyslexia within school kids that suffer from epilepsia]. Tunis Med (2006) 0.75
Allele frequency distribution of the D1S80 VNTR locus in a Tunisian population. J Forensic Sci (2005) 0.75
[Acute otomastoidïtis in children, about 44 cases]. Tunis Med (2007) 0.75
[Allergic rhinitis]. Tunis Med (2010) 0.75
[Marshall syndrome: Clinical, radiological and genetical features of a tunisian family]. Tunis Med (2015) 0.75
3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature. Neuropediatrics (2013) 0.75
Subtelomeric microduplications in three sisters with moderate mental retardation. Biochem Genet (2010) 0.75
Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis. Sex Dev (2017) 0.75
Clinical and genetic heterogeneity of crystalline retinopathies: report of two families without bietti crystalline dystrophy. Retin Cases Brief Rep (2007) 0.75