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List of works by Mongia Hachicha

A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions

scientific article published on 29 June 2011

A case of Kearns-Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles

scientific article

A novel DNAH5 variant in a Tunisian patient with primary ciliary dyskinesia

scientific article published on 01 January 2020

A novel MT-CO1 m.6498C>A variation associated with the m.7444G>A mutation in the mitochondrial COI/tRNASer(UCN) genes in a patient with hearing impairment, diabetes and congenital visual loss ⬇️

scientific article published on December 5, 2012

A novel MT-CO2 m.8249G>A pathogenic variation and the MT-TW m.5521G>A mutation in patients with mitochondrial myopathy

scientific article

A novel TBX1 missense mutation in patients with syndromic congenital heart defects.

scientific article published on 26 March 2018

A novel m.12908T>A mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease ⬇️

scientific article published on November 3, 2012

A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.

scientific article published on 6 December 2010

A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity

scientific article

Activation induced cytidine deaminase mutant (AID-His130Pro) from Hyper IgM 2 patient retained mutagenic activity on SHM artificial substrate

scientific article published on 4 October 2016

Adverse Reactions Due to the Bacillus Calmette-Guerin Vaccine: Twenty Tunisian Cases.

scientific article published in January 2018

Arterial ischemic stroke in children: 22 cases from southern Tunisia

scientific article published on 10 January 2013

Ataxia-telangiectasia in the south of Tunisia: A study of 11 cases

scientific article published in August 2015

Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression.

scientific article published on 10 January 2017

Bacterial meningitis in children: epidemiological data and outcome

scientific article

Bardet - Biedl syndrome in the child. A study of 11 cases

scientific article published on 01 January 2011

Beneficial effects of antimalarials in the treatment of generalized granuloma annular in children ⬇️

scientific article published on February 2006

Brain magnetic resonance imaging findings in adult patients with congenital adrenal hyperplasia: Increased frequency of white matter impairment and temporal lobe structures dysgenesis.

scientific article published on January 2013

Cerebral imaging in epileptic children: study of 140 cases

scientific article published in January 2014

Chaotic atrial tachycardia of the child: a case report

scholarly article published in La Tunisie Medicale (published on 2014-8)

Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

scientific article

Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome

scientific article published on 23 October 2017

Congenital heart disease in 37,294 births in Tunisia: birth prevalence and mortality rate

scientific article published on 08 October 2013

Congenital ichtyosis and hetomegaly: Think about Chanarin Dorfman syndrome

scholarly article published in La Tunisie Medicale (published on 2015-7)

Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis

scientific article published on 10 August 2019

Cystic fibrosis of the child ⬇️

scientific article published on 01 June 2004

Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome

scientific article published on 23 February 2018

Delayed growth due to growth hormone deficiency (study of 16 cases) ⬇️

scientific article published on June 2002

Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance

scientific article published on 9 October 2017

Epidemiologic, clinic and allergologic profile of atopic dermatitis in south Tunisia ⬇️

scientific article published in August 2007

Erratum to: Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.

scientific article published on 14 November 2015

Factor XIII deficiency in south of Tunisia

scientific article published on 12 July 2017

Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.

scientific article published on 24 June 2003

Febrile seizures: an epidemiological and outcome study of 482 cases ⬇️

scientific article published on May 9, 2012

Frequent Infections, Hypotonia, and Anemia in a Breastfed Infant

scientific article published on 5 January 2017

Ganglioneuroma of adrenal gland in a patient with Turner syndrome

scientific article published on 08 September 2009

Granulomatous lymphadenitis revealing a deficiency in receptor IL12

scientific article published on 26 December 2016

Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency

scientific article

Hemolytic anemia and progressive neurologic impairment: think about triosephosphate isomerase deficiency

scientific article published on 19 May 2014

Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease

scientific article published on 16 July 2019

Hepatopulmonary syndrome and portal hypertension ⬇️

scientific article published on 01 February 2007

High frequency of exon 15 deletion in the FANCA gene in Tunisian patients affected with Fanconi anemia disease: implication for diagnosis.

scientific article published on 05 February 2014

Histological features of celiac disease in south Tunisia: a study of 114 pediatric cases

scientific article

How MRI can contribute to the diagnosis of acute demyelinating encephalomyelitis in children

scientific article published on April 2011

Hypoparathyroidism in children: a study of eight cases

scientific article published on 01 August 2018

Hypothyroidism in children. 82 cases ⬇️

scientific article published in November 2002

Idiopathic steroid-resistant nephrotic syndrome in child : study of 20 cases

scientific article published on June 1, 2011

In silico investigation of the impact of synonymous variants in ABCB4 gene on mRNA stability/structure, splicing accuracy and codon usage: Potential contribution to PFIC3 disease

scientific article published on 22 October 2016

Infantile hepatic hemangioendothelioma successfully treated by low dose of propranolol

scientific article published on 15 March 2017

Inhaled corticosteroids in idiopathic pulmonary hemosiderosis: 2 cases ⬇️

scientific article published in April 2003

Klippel Trenaunay syndrome in association with Sturge Weber syndrome about one case

scholarly article published in La Tunisie Medicale (published on 2014-2)

Long-Term Outcome of Patients With Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency ⬇️

scientific article published on November 1, 2012

Metabolic profile and cardiovascular risk factors in adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency ⬇️

scientific article published on November 1, 2012

Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders

scientific article published on 28 March 2016

Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations

scientific article

Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene

scientific article

Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene

scientific article published on 4 May 2016

Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations

scientific article published on 03 March 2020

Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases

scientific article published on 21 April 2020

Neonatal diabetes ⬇️

scientific article published on 01 May 2008

Neonatal purulent meningitis in southern Tunisia: Epidemiology, bacteriology, risk factors and prognosis

scientific article published on 17 June 2015

Nephropathic infantile form of cystinosis about one case

scientific article published on 12 April 2012

Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion

scientific article published on 03 November 2018

Positivity of antineutrophil cytoplasmic antibodies in children: prevalence and etiologies

scientific article published in January 2018

Preliminary national report on cystic fibrosis epidemiology in Tunisia: the actual state of affairs

scientific article published on 01 March 2020

Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele

scientific article published on 15 September 2019

Primary immune thrombocytopenia in childhood: a regional study in the south of Tunisia

scientific article

Primary pulmonary myoepithelial carcinoma in a child: An ambiguous entity

scientific article

Pulmonary invasive aspergillosis with thyroid and bony locations ⬇️

scientific article published on 01 July 2008

Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988-2012).

scientific article published on 13 October 2015

Resistant invasive aspergillosis in an autosomal recessive chronic granulomatous disease.

scientific article

Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect

scientific article

Severe haemophilia B revealed by intracranial hemorrhage in a newborn

scientific article

Severe head injury among children: prognostic factors and outcome

scientific article

The cortico-resistent idiopathic nephrotic syndrome of child. Study of 14 observations ⬇️

scientific article published in April 2005

Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations

scientific article published on 01 July 2018

Traumatic head injury in children in south Tunisia epidemiology, clinical manifestations and evolution. 454 cases

scientific article published in January 2009

Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation

scientific article published on 29 July 2021

Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome

scientific article

Type I Crigler Najjar syndrome in Tunisia: a study of 30 cases

scientific article published on October 1, 2010

Van Wyk-Grumbach syndrome: A rare cause of precocious puberty

scientific article published on 17 March 2018

[Bilateral Presentation of neonatal Endogenous Endophthalmitis due to Pseudomonas Aeruginosa]

scientific article published on 24 May 2019

[Epidemiology of home accidents in childhood: experience in the Division of General Pediatrics in Southern Tunisia]

scientific article published on 12 June 2019

[Psychological impact of juvenile-onset diabetes on parents]

scientific article published on 01 November 2012

[Vasculitis with renal involvement and antineutrophil cytoplasmic antibodies (ANCA) in a child receiving benzylthiouracil]

scientific article published on 23 May 2007

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