Detalles de la búsqueda
1.
Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies.
J Hum Genet
; 69(7): 291-299, 2024 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-38467738
2.
Knowledge and attitudes toward epilepsy among people in Sfax region, Tunisia.
Epilepsy Behav
; 122: 108151, 2021 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-34217034
3.
A novel TBX1 missense mutation in patients with syndromic congenital heart defects.
Biochem Biophys Res Commun
; 499(3): 563-569, 2018 05 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29596833
4.
Frequent Infections, Hypotonia, and Anemia in a Breastfed Infant.
J Pediatr Hematol Oncol
; 39(2): 141-142, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-28060111
5.
Neonatal purulent meningitis in southern Tunisia: Epidemiology, bacteriology, risk factors and prognosis.
Fetal Pediatr Pathol
; 34(4): 233-40, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26083897
6.
Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.
J Hum Genet
; 59(4): 216-22, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24573090
7.
Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency.
Fetal Pediatr Pathol
; 33(4): 234-8, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-24840153
8.
[Bacterial meningitis in children: epidemiological data and outcome]. / La méningites purulentes de l'enfant dans le sud Tunisien: aspects épidémiologiques et évolutifs.
Tunis Med
; 92(2): 141-6, 2014 Feb.
Artículo
en Francés
| MEDLINE | ID: mdl-24938236
9.
Complex genotypes in family with metachromatic leukodystrophy: Effect of trans and cis mutations distribution on the phenotype variability.
Int J Dev Neurosci
; 84(1): 35-46, 2024 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-37848385
10.
A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.
Ann Hum Genet
; 77(4): 336-43, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23550889
11.
[Study of a Tunisian population of children with learning disorders]. / Etude d'une population tunisienne d'enfants en difficultés scolaires.
Tunis Med
; 91(6): 382-6, 2013 Jun.
Artículo
en Francés
| MEDLINE | ID: mdl-23868035
12.
Juvenile Dermatomyositis Without Skin Lesions in an Antinuclear Matrix Protein 2 Antibody Seropositive Pediatric Case.
J Clin Neuromuscul Dis
; 25(1): 46-50, 2023 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37611270
13.
Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with Developmental and Epileptic Encephalopathy.
Epilepsia Open
; 2023 Oct 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-37867425
14.
A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity.
J Mol Neurosci
; 73(9-10): 853-864, 2023 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-37817054
15.
Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.
Front Neurol
; 14: 1092887, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-36970549
16.
Impact of single-nucleotide polymorphisms at the TP53-binding and responsive promoter region of BCL2 gene in modulating the phenotypic variability of LGMD2C patients.
Mol Biol Rep
; 39(7): 7479-86, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22367371
17.
Frontal motor seizure following non-convulsive status epilepticus in ring chromosome 20 syndrome.
Neurosciences (Riyadh)
; 17(1): 74-7, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-22246017
18.
Combined in Silico Prediction Methods, Molecular Dynamic Simulation, and Molecular Docking of FOXG1 Missense Mutations: Effect on FoxG1 Structure and Its Interactions with DNA and Bmi-1 Protein.
J Mol Neurosci
; 72(8): 1695-1705, 2022 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-35654936
19.
Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.
Eur J Med Genet
; 64(12): 104373, 2021 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-34737153
20.
Unusual double mutation in MECP2 and CDKL5 genes in Rett-like syndrome: Correlation with phenotype and genes expression.
Clin Chim Acta
; 508: 287-294, 2020 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-32445745