Detalhe da pesquisa
1.
Clinical application of whole-exome sequencing across clinical indications.
Genet Med
; 18(7): 696-704, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26633542
2.
Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene.
Doc Ophthalmol
; 130(2): 157-64, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25555363
3.
Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL).
Am J Med Genet A
; 164A(8): 2079-83, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24818805
4.
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.
Pediatr Nephrol
; 29(6): 971-7, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23720012
5.
Baseline Expression of Immune Gene Modules in Blood is Associated With Primary Response to Anti-TNF Therapy in Crohn's Disease Patients.
J Crohns Colitis
; 18(3): 431-445, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37776235
6.
Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis.
Mol Vis
; 19: 2209-16, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24227916
7.
Baseline TREM-1 Whole Blood Gene Expression Does Not Predict Response to Adalimumab Treatment in Patients with Ulcerative Colitis or Crohn's Disease in the SERENE Studies.
J Crohns Colitis
; 2023 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37801628
8.
Whole blood DNA methylation changes are associated with anti-TNF drug concentration in patients with Crohn's disease.
J Crohns Colitis
; 2023 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37551994
9.
Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.
Genet Med
; 14(6): 594-603, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22382802
10.
MEFV mutations in Tunisian patients suffering from familial Mediterranean fever.
Semin Arthritis Rheum
; 36(6): 397-401, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17276496
11.
Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.
Invest Ophthalmol Vis Sci
; 47(8): 3487-95, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16877420
12.
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
; 155A(2): 442-4, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21271670
13.
Mutation analysis of TBX22 reveals new mutation in Tunisian CPX family.
Clin Dysmorphol
; 14(1): 23-25, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15602089
14.
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
Ann Clin Transl Neurol
; 2(6): 623-35, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26125038
15.
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
; 45(9): 3279-85, 2004 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-15326152
16.
A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract.
Invest Ophthalmol Vis Sci
; 45(8): 2716-21, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15277496
17.
Molecular genetics of cataract.
Dev Ophthalmol
; 37: 67-82, 2003.
Artigo
em Inglês
| MEDLINE | ID: mdl-12876830
18.
Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.
Eur J Med Genet
; 57(4): 181-4, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24583203
19.
Genomics in the era of molecular ophthalmology: reflections on the National Ophthalmic Disease Genotyping Network (eyeGENE).
Arch Ophthalmol
; 126(3): 424-5, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18332328
20.
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
Invest Ophthalmol Vis Sci
; 52(8): 5317-24, 2011 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-21642631