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Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy

International journal of molecular sciences, 2023-02, Vol.24 (4), p.3365

2023

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Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing

Frontiers in genetics, 2023, Vol.14, p.1259826-1259826

2023

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Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features

Journal of human genetics, 2018-10, Vol.63 (10), p.1077-1082

2018

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Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

European journal of human genetics : EJHG, 2015-08, Vol.23 (8), p.1025-1032

2015

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Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young

Herz, 2021-04, Vol.46 (Suppl 1), p.94-102

2021

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Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome

Molecular genetics & genomic medicine, 2022-07, Vol.10 (7), p.e1954-n/a

2022

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Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy

Molecular genetics & genomic medicine, 2024-06, Vol.12 (6), p.e2486-n/a

2024

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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

Nature communications, 2023-08, Vol.14 (1), p.5269-5269, Article 5269

2023

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Le syndrome de Kabuki : étude clinique d’une série de 23 patients tunisiens

Morphologie, 2021-09, Vol.105 (350), p.S33-S33

2021

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TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?

Cytogenetic and genome research, 2018-01, Vol.154 (1), p.1-5

2018

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WDR73-related galloway mowat syndrome with collapsing glomerulopathy

European journal of medical genetics, 2019-09, Vol.62 (9), p.103550-103550, Article 103550

2019

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Le syndrome Wolf–Hirschhorn : à propos de 9 cas

Morphologie, 2021-09, Vol.105 (350), p.S28-S28

2021

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Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients

International journal of pediatric otorhinolaryngology, 2017-12, Vol.103, p.14-19

2017

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Partial hypopituitarism in a female patient with a 45,X/46,XY mosaicism

Annales d'endocrinologie, 2017-02, Vol.78 (1), p.56-58

2017

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Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia

American journal of medical genetics. Part A, 2012-10, Vol.158A (10), p.2407-2411

2012

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Pseudoaminopterin syndrome

American journal of medical genetics. Part A, 2012-09, Vol.158A (9), p.2233-2238

2012

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3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature

Neuropediatrics, 2013-10, Vol.44 (5), p.281

2013

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A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation

European journal of medical genetics, 2011-05, Vol.54 (3), p.241-246

2011

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Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents

American journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2850-2853

2010

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Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy

European journal of medical genetics, 2013-01, Vol.56 (1), p.13-19

2013

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Hexasomy of the Prader–Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: Case report

European journal of medical genetics, 2011-07, Vol.54 (4), p.e446-e450

2011

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3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome

Molecular cytogenetics, 2014-09, Vol.7 (1), p.59-59, Article 59

2014

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Germinal Mosaicism in Noonan Syndrome: A Family with Two Affected Siblinps of Normal Parents

American journal of medical genetics. Part A, 2010, Vol.152 (11), p.2850-2853

2010

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Clinical and Molecular Cytogenetic Study of 38 Williams-Beuren Syndrome Tunisian Patients

Open journal of genetics, 2014, Vol.4 (5), p.385-391

2014

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A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

Genetics Research, 2019-04, Vol.101, p.e6-e6, Article e6

2019

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Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy

Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young

Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome

Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

Le syndrome de Kabuki : étude clinique d’une série de 23 patients tunisiens

TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?

WDR73-related galloway mowat syndrome with collapsing glomerulopathy

Le syndrome Wolf–Hirschhorn : à propos de 9 cas

Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients

Partial hypopituitarism in a female patient with a 45,X/46,XY mosaicism

Constitutional NRAS mutations are rare among patients with Noonan syndrome or juvenile myelomonocytic leukemia

Pseudoaminopterin syndrome

3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature

A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation

Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents

Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy

Hexasomy of the Prader–Willi/Angelman critical region, including the OCA2 gene, in a patient with pigmentary dysplasia: Case report

3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome

Germinal Mosaicism in Noonan Syndrome: A Family with Two Affected Siblinps of Normal Parents

Clinical and Molecular Cytogenetic Study of 38 Williams-Beuren Syndrome Tunisian Patients

A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation

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