Detalles de la búsqueda
1.
SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
Am J Med Genet A
; 185(4): 1081-1090, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33403770
2.
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling.
Proc Natl Acad Sci U S A
; 115(21): 5474-5479, 2018 05 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-29735715
3.
Detection of a novel mutation in a Tunisian child with polycystic kidney disease.
IUBMB Life
; 72(8): 1799-1806, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32472977
4.
A novel de novo splicing mutation c.1444-2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome.
IUBMB Life
; 71(12): 1937-1945, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31317616
5.
First description of a novel mitochondrial mutation in the MT-TI gene associated with multiple mitochondrial DNA deletion and depletion in family with severe dilated mitochondrial cardiomyopathy.
Biochem Biophys Res Commun
; 497(4): 1049-1054, 2018 03 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-29481798
6.
First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation.
Biochem Biophys Res Commun
; 497(1): 93-101, 2018 02 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-29421650
7.
First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene.
Mol Biol Rep
; 43(3): 165-73, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26874853
8.
Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.
Eur J Pediatr
; 174(11): 1491-501, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-25968604
9.
Genetic insights into fetal kidney development: Variants in HNF1A and PKHD1 genes.
Gene
; : 148625, 2024 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38830515
10.
A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity.
J Sex Med
; 10(10): 2586-9, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-22594312
11.
Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population.
J Steroid Biochem Mol Biol
; 227: 106235, 2023 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36563763
12.
Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report.
Front Oncol
; 13: 1195814, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37664053
13.
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Nat Commun
; 14(1): 3403, 2023 06 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-37296101
14.
Chromosomal defects in infertile men with poor semen quality.
J Assist Reprod Genet
; 29(5): 451-6, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22406877
15.
Li-Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype-phenotype correlation.
BMC Med Genomics
; 15(1): 44, 2022 03 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35246108
16.
Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools.
Gene
; 817: 146174, 2022 Apr 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35031424
17.
Annexin A1 and its receptor gene polymorphisms in systemic lupus erythematosus in the Tunisian population.
Clin Rheumatol
; 41(5): 1359-1369, 2022 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-35028743
18.
[Bardet - Biedl syndrome in the child. A study of 11 cases]. / Le syndrome de Bardet - Biedl chez l'enfant. Etude de 11 observations.
Tunis Med
; 89(1): 31-6, 2011 Jan.
Artículo
en Francés
| MEDLINE | ID: mdl-21267825
19.
Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis.
Acta Clin Belg
; 76(1): 16-24, 2021 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-31402777
20.
Erratum to: Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.
Eur J Pediatr
; 174(12): 1703, 2015 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-26567037