Y. Bouyacoub

发表

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene

Ahmed Rebai, D. Schorderet, S. Abdelhak, 2011, Journal of Human Genetics.

Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III

S. Abdelhak, L. Romdhane, F. Petit, 2013, Molecular Biology Reports.

Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation

M. Teichmann, O. Boespflug-Tanguy, C. Rousselle, 2018, Neurology: Genetics.

Improvements and inter-laboratory implementation and optimization of blood-based single-locus age prediction models using DNA methylation of the ELOVL2 promoter

J. Deleuze, Antoine Daunay, A. How-Kit, 2020, Scientific Reports.

Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis

Fabienne Wong Jun Tai, P. Avan, C. Petit, 2020, Proceedings of the National Academy of Sciences.

Consanguinity, endogamy, and genetic disorders in Tunisia

S. Abdelhak, L. Romdhane, K. Dellagi, 2012, Journal of Community Genetics.

An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation

M. Gribaa, A. Saâd, Y. Bouyacoub, 2010, Journal of Bone and Mineral Metabolism.

Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness

C. Petit, D. Weil, J. Hardelin, 2014, PloS one.

Centenarians consistently present a younger epigenetic age than their chronological age with four epigenetic clocks based on a small number of CpG sites

M. Touvier, H. Blanché, J. Deleuze, 2022, Aging.

A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia: Implication for Molecular Diagnosis and Therapy

S. Abdelhak, M. Mokni, M. Ben Rekaya, 2014, BioMed research international.

Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.

S. Abdelhak, O. Messaoud, M. Nagara, 2013, Gene.

Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients

C. Petit, J. Hardelin, S. Abdelhak, 2015, PloS one.

Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism

S. Abdelhak, K. McElreavey, O. Messaoud, 2021, Frontiers in Genetics.

Specific Aspects of Consanguinity: Some Examples from the Tunisian Population

C. Petit, S. Abdelhak, L. Romdhane, 2014, Human Heredity.

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.

C. Petit, S. Chardenoux, J. Hardelin, 2016, American journal of human genetics.

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

T. Pippucci, K. Voskarides, C. Deltas, 2018, European journal of medical genetics.

A Tunisian Patient with Two Rare Syndromes: Triple A Syndrome and Congenital Hypogonadotropic Hypogonadism

S. Abdelhak, K. Khiari, L. Romdhane, 2014, Hormone Research in Paediatrics.

The Experience of a Tunisian Referral Centre in Prenatal Diagnosis of Xeroderma pigmentosum

S. Abdelhak, S. Boubaker, O. Messaoud, 2013, Public Health Genomics.

Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.

S. Abdelhak, L. Romdhane, Y. Bouyacoub, 2013, International journal of pediatric otorhinolaryngology.

A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families.

S. Abdelhak, O. Messaoud, M. Nagara, 2013, International journal of pediatric otorhinolaryngology.

Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.

S. Abdelhak, L. Romdhane, H. Ouragini, 2013, Gene.

CYP1B1 Gene Mutations Causing Primary Congenital Glaucoma in Tunisia

M. Khairallah, R. Kahloun, S. Abdelhak, 2014, Annals of human genetics.

Consanguinity, endogamy, and genetic disorders in Tunisia

S. Abdelhak, L. Romdhane, K. Dellagi, 2013, Journal of Community Genetics.

Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene

S. Abdelhak, F. Munier, Y. Bouyacoub, 2019, Ophthalmic genetics.

Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia

S. Abdelhak, M. Mokni, M. Ben Rekaya, 2016, American journal of human biology : the official journal of the Human Biology Council.

Comorbidity in the Tunisian population

S. Abdelhak, L. Romdhane, G. Romeo, 2016, Clinical genetics.

Novel and recurrent mutations in the TAT gene in Tunisian families affected with Richner-Hanhart syndrome.

S. Abdelhak, L. Romdhane, S. Boubaker, 2013, Gene.

A high-throughput real-time PCR tissue-of-origin test to distinguish blood from lymphoblastoid cell line DNA for (epi)genomic studies

M. Touvier, H. Blanché, J. Deleuze, 2022, Scientific Reports.

Whole Exome Sequencing allows the identification of two novel groups of Xeroderma pigmentosum in Tunisia, XP-D and XP-E: Impact on molecular diagnosis.

T. Pippucci, S. Abdelhak, A. Barakat, 2017, Journal of dermatological science.

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

N. Lévy, S. Abdelhak, M. Nagara, 2020, Herz.

Hypomyelination and Congenital Cataract: Clinical, Imaging, and Genetic Findings in Three Tunisian Families and Literature Review

C. Drissi, O. Boespflug-Tanguy, S. Abdelhak, 2021, Neuropediatrics.

Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III

S. Abdelhak, L. Romdhane, F. Petit, 2013, Molecular Biology Reports.

Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia

S. Abdelhak, M. Mokni, M. Ben Rekaya, 2016, American journal of human biology : the official journal of the Human Biology Council.