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1.
Detection of a novel mutation in a Tunisian child with polycystic kidney disease.
IUBMB Life
; 72(8): 1799-1806, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32472977
2.
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Kidney Int
; 96(6): 1408-1416, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31672324
3.
Plasma C3d levels as a diagnostic marker for complete complement factor I deficiency.
J Allergy Clin Immunol
; 147(2): 749-753.e2, 2021 02.
Article
in English
| MEDLINE | ID: mdl-32853637
4.
Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
J Am Soc Nephrol
; 25(12): 2740-51, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-24854265
5.
Identification by array comparative genomic hybridization of a new amplicon on chromosome 17q highly recurrent in BRCA1 mutated triple negative breast cancer.
Breast Cancer Res
; 16(6): 466, 2014 Nov 22.
Article
in English
| MEDLINE | ID: mdl-25416589
6.
Epidemiology, Outcomes, and Complement Gene Variants in Secondary Thrombotic Microangiopathies.
Clin J Am Soc Nephrol
; 2023 Apr 21.
Article
in English
| MEDLINE | ID: mdl-37094330
7.
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Nat Genet
; 55(11): 1929-1940, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37919452
8.
Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools.
Gene
; 817: 146174, 2022 Apr 05.
Article
in English
| MEDLINE | ID: mdl-35031424
9.
Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
Sci Rep
; 12(1): 2722, 2022 02 17.
Article
in English
| MEDLINE | ID: mdl-35177655
10.
Guidelines for Genetic Testing and Management of Alport Syndrome.
Clin J Am Soc Nephrol
; 17(1): 143-154, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34930753
11.
Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis.
Acta Clin Belg
; 76(1): 16-24, 2021 Feb.
Article
in English
| MEDLINE | ID: mdl-31402777
12.
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Eur J Hum Genet
; 29(8): 1186-1197, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33854215
13.
Two novel GJA1 variants in oculodentodigital dysplasia.
Mol Genet Genomic Med
; 7(9): e882, 2019 09.
Article
in English
| MEDLINE | ID: mdl-31347275
14.
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Eur J Hum Genet
; 32(1): 132, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-36721056
15.
NF1 microduplication first clinical report: association with mild mental retardation, early onset of baldness and dental enamel hypoplasia?
Eur J Hum Genet
; 16(3): 305-11, 2008 Mar.
Article
in English
| MEDLINE | ID: mdl-18183042
16.
Genotype and Outcome After Kidney Transplantation in Alport Syndrome.
Kidney Int Rep
; 3(3): 652-660, 2018 May.
Article
in English
| MEDLINE | ID: mdl-29854973
17.
Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene.
Gene
; 671: 28-35, 2018 Sep 10.
Article
in English
| MEDLINE | ID: mdl-29860066
18.
Hypokalaemic periodic paralysis due to the CACNA1S R1239H mutation in a large African family.
Neuromuscul Disord
; 17(5): 419-22, 2007 May.
Article
in English
| MEDLINE | ID: mdl-17418573
19.
X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
PLoS One
; 11(9): e0161802, 2016.
Article
in English
| MEDLINE | ID: mdl-27627812
20.
AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome.
Ann Endocrinol (Paris)
; 74(1): 59-61, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-23337016