Jozef Hertecant
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Explore the profile of Jozef Hertecant including associated specialties, affiliations and a list of published articles.
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48
Citations
921
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Recent Articles
1.
Chong S, Cao Y, Fung E, Kleppe S, Gripp K, Hertecant J, et al.
Am J Med Genet A
. 2022 Dec;
191(3):776-785.
PMID: 36537114
WWOX biallelic loss-of-function pathogenic single nucleotide variants (SNVs) and copy number variants (CNVs) including exonic deletions and duplications cause WWOX-related epileptic encephalopathy (WOREE) syndrome. This disorder is characterized by refractory...
2.
Riedhammer K, Burgemeister A, Cantagrel V, Amiel J, Siquier-Pernet K, Boddaert N, et al.
Hum Mol Genet
. 2022 May;
31(18):3083-3094.
PMID: 35512351
Background: TASP1 encodes an endopeptidase activating histone methyltransferases of the KMT2 family. Homozygous loss-of-function variants in TASP1 have recently been associated with Suleiman-El-Hattab syndrome. We report six individuals with Suleiman-El-Hattab...
3.
Al Dhahouri N, Ali A, Hertecant J, Al-Jasmi F
Front Pediatr
. 2022 Feb;
9:803732.
PMID: 35186827
Arylsulfatase B is an enzyme present in the lysosomes that involves in the breakdown of large sugar molecules known as glycosaminoglycans (GAGs). Arylsulfatase B chemically modifies two GAGs, namely, dermatan...
4.
Abdelrahman H, Akawi N, Al-Shamsi A, Ali A, Al-Jasmi F, John A, et al.
Clin Genet
. 2022 Jan;
101(4):403-410.
PMID: 34988996
Here, we delineate the phenotype of two siblings with a bi-allelic frameshift variant in MMP15 gene with congenital cardiac defects, cholestasis, and dysmorphism. Genome sequencing analysis revealed a recently reported...
5.
Grammatikopoulos T, Hadzic N, Foskett P, Strautnieks S, Samyn M, Vara R, et al.
Hepatol Commun
. 2021 Oct;
6(3):473-479.
PMID: 34677006
Mutations in the transaldolase 1 (TALDO1) gene have been described in a limited number of cases. Several organs can be affected and clinical manifestations are variable, but often include liver...
6.
Ali A, Almesmari F, Al Dhahouri N, Saleh Ali A, Aldhanhani M, Vijayan R, et al.
Genes (Basel)
. 2021 Sep;
12(9).
PMID: 34573316
The variants of electron transfer flavoprotein (, ) and ETF dehydrogenase () are the leading cause of glutaric aciduria type II (GA-II). In this study, we identified 13 patients harboring...
7.
Stringer R, Jurkovicova-Tarabova B, Souza I, Ibrahim J, Vacik T, Fathalla W, et al.
Mol Brain
. 2021 Aug;
14(1):126.
PMID: 34399820
Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies that are characterized by seizures and developmental delay. DEEs are primarily attributed to genetic causes and an increasing number...
8.
Saleh S, Beyyumi E, Al Kaabi A, Hertecant J, Barakat D, Al Dhaheri N, et al.
Clin Genet
. 2021 Aug;
100(5):573-600.
PMID: 34374989
Clinical and molecular characterization of neuro-genetic disorders among UAE national patients seen in the Genetic Clinic at Tawam hospital over a period of 3 years. A retrospective chart review of...
9.
Iqbal M, Maroofian R, Cavdarli B, Riccardi F, Field M, Banka S, et al.
Genet Med
. 2021 Jul;
23(11):2138-2149.
PMID: 34244665
Purpose: We aimed to define a novel autosomal recessive neurodevelopmental disorder, characterize its clinical features, and identify the underlying genetic cause for this condition. Methods: We performed a detailed clinical...
10.
Aldrian D, Vogel G, Frey T, Ayyildiz Civan H, Aksu A, Avitzur Y, et al.
J Clin Med
. 2021 Feb;
10(3).
PMID: 33525641
Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of...