N. Belguith

发表

Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation

R. M’rad, S. Hannachi, Hela Sassi, 2022, BMC medical genomics.

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

R. Touraine, H. Kamoun, L. Keskes-Ammar, 2019, IUBMB life.

Annexin A1 and its receptor gene polymorphisms in systemic lupus erythematosus in the Tunisian population

H. Kamoun, R. Fakhfakh, H. Hachicha, 2022, Clinical Rheumatology.

Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene.

H. Kamoun, S. Bouomrani, Mouna Dey, 2018, Gene.

Descriptive analyses of Turner syndrome: 49 cases in Tunisia.

N. Charfi, M. Abid, A. Bouraoui, 2010, Annales d'endocrinologie.

Two Tunisian patients with Peters plus syndrome harbouring a novel splice site mutation in the B3GALTL gene that modulates the mRNA secondary structure.

M. Hchicha, F. Fakhfakh, I. Chabchoub, 2012, Gene.

ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling

S. Wells, H. Clevers, R. Burdine, 2018, Proceedings of the National Academy of Sciences.

Identification of Novel BRCA1 Germline Deleterious Variant Among a Tunisian Family

K. Mrad, K. Rahal, S. Hannachi, 2021, Clinical Oncology and Research.

First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene

F. Fakhfakh, N. Belguith, Dhoha Dhieb, 2016, Molecular Biology Reports.

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

F. Fakhfakh, M. Hachicha, L. Keskes, 2020, Journal of Molecular Neuroscience.

An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene

F. Fakhfakh, N. Belguith, Olfa Siala, 2013, Iranian journal of pediatrics.

Chromosomal defects in infertile men with poor semen quality

F. Fakhfakh, H. Kamoun, N. Belguith, 2012, Journal of Assisted Reproduction and Genetics.

Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect

A. Odermatt, H. Kamoun, L. Keskes, 2017, The Journal of Steroid Biochemistry and Molecular Biology.

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

V. Benoit, H. Kamoun, M. Hachicha, 2019, Acta clinica Belgica.

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.

F. Fakhfakh, N. Gouider-Khouja, Ghada Ben Salah, 2018, Biochemical and biophysical research communications.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) in Tunisia: from molecular genetics to the development of prognostic tools

H. Kamoun, S. Bouomrani, Mouna Dey, 2022, Gene.

Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population

A. Odermatt, L. Keskes, T. Kammoun, 2022, The Journal of Steroid Biochemistry and Molecular Biology.

First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome.

F. Fakhfakh, N. Belguith, R. B. Mansour, 2013, Gene.

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.

F. Fakhfakh, L. Keskes, N. Belguith, 2018, Biochemical and biophysical research communications.

Ganglioneuroma of adrenal gland in a patient with Turner syndrome.

T. Sellami-Boudawara, N. Charfi, M. Abid, 2010, Annals of diagnostic pathology.

Mutational Analysis of the MECP2 Gene in Tunisian Patients With Rett Syndrome: A Novel Double Mutation

N. Louhichi, F. Fakhfakh, R. Zemni, 2010, Journal of child neurology.

Mutation Gene in Tunisian Patients With Rett Syndrome : A Novel Double MECP 2 Mutational Analysis of the

N. Louhichi, F. Fakhfakh, R. Zemni, 2010 .

Novel double deletions in the MECP2 gene in Tunisian Rett patient.

F. Fakhfakh, A. Rouissi, N. Belguith, 2012, Gene.

Detection of a novel mutation in a Tunisian child with polycystic kidney disease

H. Kamoun, Mouna Dey, Asma Ahmed, 2020, IUBMB life.

SRD5A3‐CDG: 3D structure modeling, clinical spectrum, and computer‐based dysmorphic facial recognition

A. Alimi, W. Ouarda, N. Kharrat, 2021, American journal of medical genetics. Part A.

Mutational analysis of the mitochondrial tRNALeu(UUR) gene in Tunisian patients with mitochondrial diseases.

A. Tlili, S. Masmoudi, F. Fakhfakh, 2007, Biochemical and Biophysical Research Communications - BBRC.

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

N. Charfi, M. Abid, F. Fakhfakh, 2013, The journal of sexual medicine.

High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis

M. Polak, S. Hanein, G. Pinto, 2021, Frontiers in Endocrinology.

Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Peroxidase Mutations.

M. Polak, C. Bole-Feysot, P. Nitschké, 2018, Thyroid : official journal of the American Thyroid Association.

Occurrence of Hypopituitarism in Tunisian Turner Syndrome patients: familial versus sporadic cases

N. Charfi, M. Abid, F. Abdelhédi, 2021, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

Novel Mutations in the C-Terminal Region of the MECP2 Gene in Tunisian Rett Syndrome Patients

F. Fakhfakh, A. Rouissi, N. Belguith, 2012, Journal of child neurology.

Familial Occurrence of Turner Syndrome in two Tunisian Families

M. Abid, M. Hachicha, F. Abdelhédi, 2019 .

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

N. Charfi, M. Abid, N. Miled, 2015, European Journal of Pediatrics.

Constitutional mismatch repair deficiency syndrome with atypical features caused by a homozygous MLH1 missense variant (c.1918C>A, p.(Pro640Thr)): a case report

M. Ben Rekaya, S. Rammeh, N. Belguith, 2023, Frontiers in oncology.

First molecular diagnosis of Donohue syndrome in Africa: novel unusual insertion/deletion mutation in the INSR gene

F. Fakhfakh, N. Belguith, Dhoha Dhieb, 2016, Molecular Biology Reports.

Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects

David K. Wright, A. Sinclair, P. Kwan, 2023, Nature communications.

An Unusual Case of Peters Plus Syndrome with Sexual Ambiguity and Absence of Mutations in the B3GALTL Gene

F. Fakhfakh, N. Belguith, Olfa Siala, 2013, Iranian journal of pediatrics.