Accueil › Annuaire des chercheurs › Ali Saâd
Ali Saâd
Affiliation : Hôpital Farhat Hached · University of Sousse
- 104Publications (affiliation tunisienne)
- 120Publications au total
- 3723Citations
- 32Indice h
Profil de recherche
Ali Saâd compte 104 publications référencées (2006–2024). Ses travaux paraissent principalement dans « Journal of Assisted Reproduction and Genetics », « Fertility and Sterility » et « Gene ». Son article le plus cité, « Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation » (2016), a été cité 440 fois. 11 de ces publications datent des trois dernières années d’activité. Ses travaux sont cosignés avec au moins 12 chercheurs, notamment dans des établissements de France, Singapour, Afrique du Sud, Canada.
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Créer mon profil gratuit Ajouter mes publicationsDomaines de recherche
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Sperm and Testicular Function
- Reproductive Biology and Fertility
Publications (104)
- Genome Tunisia Project: paving the way for precision medicine in North Africa
- Functional analysis of MMR gene VUS from potential Lynch syndrome patients
- Is Tunisia ready for precision medicine? Challenges of medical genomics within a LMIC healthcare system
- Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome
- Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development
- Nuclear sperm integrity and ICSI prognosis in Tunisian patients with MMAF syndrome (multiple morphological abnormalities of the sperm flagella)
- Functional characterization of MLH1 missense variants unveils mechanisms of pathogenicity and clarifies role in cancer
- Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis
- X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene
- Clinical, biological, radiological, and genetic study of LPAC syndrome in Tunisian patients
- Genotype-phenotype correlations for the type 1 lissencephaly of eight Tunisian children
- Phenotypic intrafamilial variability including H syndrome and Rosai–Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene
- Disorders of sex development in Wolf–Hirschhorn syndrome: a genotype–phenotype correlation and MSX1 as candidate gene
- Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case
- Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature
- Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives
- Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype
- Comparison of sperm morphology and nuclear sperm quality in SPATA16‐ and DPY19L2‐ mutated globozoospermic patients
- Nuclear sperm quality in total polymorphic teratozoospermia and its impact on intracytoplasmic sperm injection outcome
- Targeted next generation sequencing screening of Lynch syndrome in Tunisian population
- Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
- c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis
- Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature
- A novel nonsense ATP2C1 mutation causes Hailey-Hailey disease in a Tunisian family
- Evaluation of Seminal Plasma Antioxidants and Serum Male Hormones Status in Infertile Patients with Unbalanced Chromosomal Abnormalities
- Subtelomeric Rearrangements in Patients with Recurrent Miscarriage.
- Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
- New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family
- ENPP1 Mutation Causes Recessive Cole Disease by Altering Melanogenesis
- Genetic study of non‐syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case‐series
- Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment.
- Progressive pseudorheumatoid dysplasia in North and West Africa: Clinical description in ten patients with mutations of WISP3
- Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation
- A new mutation identified in SPATA16 in two globozoospermic patients
- Molecular Diagnostic and Prognostic Subtyping of Gliomas in Tunisian Population
- Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis
- Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea
- Association of the OPRM1 and COMT genes’ polymorphisms with the efficacy of morphine in Tunisian cancer patients: Impact of the high genetic heterogeneity in Tunisia?
- H syndrome with histological features of Langerhans cell histiocytosis
- Relationship between sperm aneuploidy, sperm DNA integrity, chromatin packaging, traditional semen parameters, and recurrent pregnancy loss
- Identification of a newDPY19L2mutation and a better definition ofDPY19L2deletion breakpoints leading to globozoospermia
- Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population
- Microarray Analysis of 8p23.1 Deletion in New Patients with Atypical Phenotypical Traits
- Multiplex Minisequencing of theHBBGene: A Rapid Strategy to Confirm the Most Frequentβ-Thalassemia Mutations in the Tunisian Population
- Trisomy and tetrasomy 15q11-q13 diagnosed by molecular cytogenetic analysis in two patients with mental retardation
- Frequency of HNF4A-P.I463V Variant in the Tunisian North-African Population and Its Relation with Diabetes Mellitus.
- Genetic study in a tunisian family revealed IVS1+1G>A mutation in the CHM gene
- Genetics of low spinal muscular atrophy carrier frequency in sub‐Saharan Africa
- Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions
- Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith–Wiedemann syndrome as a sporadic adrenocortical tumor
- Modulation at Age of Onset in Tunisian Huntington Disease Patients: Implication of New Modifier Genes
- Challenges for molecular diagnosis of familial early-onset diabetes in unexplored populations.
- Cytogenetics study of chromosomal instability in Fanconi anemia in Tunisia
- Effects of reduced seminal enzymatic antioxidants on sperm DNA fragmentation and semen quality of Tunisian infertile men
- Phenotype and Micro-array characterization of duplication 11q22.1-q25 and review of the literature
- Xp22.3 interstitial deletion: A recognizable chromosomal abnormality encompassing VCX3A and STS genes in a patient with X-linked ichthyosis and mental retardation
- A cytogenetic approach to the effects of low levels of ionizing radiation (IR) on the exposed Tunisian hospital workers
- Pericentric inversion of chromosom 12 [Inv (12) (p12q12)] associated with idiopathic azoospermia in one infertile Tunisian man
- Circadian heart rate and blood pressure variability in intensive care unit patients
- Corrigendum to “Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure” [Gene 509 (2012) 298–301]
- Impact of seminal trace element and glutathione levels on semen quality of Tunisian infertile men
- Altered Antioxidant Status and Increased Lipid Per-Oxidation in Seminal Plasma of Tunisian Infertile Men
- Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma
- Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader–Willi like features and hypotonia
- NR5A1 (SF-1) gene variants in a group of 26 young women with XX primary ovarian insufficiency
- A Combination of Micronucleus Assay and Fluorescence In Situ Hybridization Analysis to Evaluate the Genotoxicity of Formaldehyde
- CITED2 mutations potentially cause idiopathic premature ovarian failure
- DNA fragmentation status in patients with necrozoospermia
- Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: Characterization of three novel polymorphisms
- Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure
- High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia
- An unusual three-way translocation t(21;8;1)(q22;q22;q32) in a case of acute myeloid leukemia (M2)
- Clock genes expression in intensive care unit patients
- The effects of male aging on semen quality, sperm DNA fragmentation and chromosomal abnormalities in an infertile population
- Semen Parameters and Sperm DNA Fragmentation as Causes of Recurrent Pregnancy Loss
- Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients
- Analysis of Sperm Aneuploidies and DNA Fragmentation in Patients With Globozoospermia or With Abnormal Acrosomes
- Cytogenetic and Molecular Aspects of Absolute Teratozoospermia: Comparison Between Polymorphic and Monomorphic Forms
- Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III
- Examination of viability and quality of ovarian tissue after cryopreservation using simple laboratory methods in ewe
- Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family
- Sequence analysis of the CDKN1B gene in patients with premature ovarian failure reveals a novel mutation potentially related to the phenotype
- Chromosomal segregation in spermatozoa of five Robertsonian translocation carriers t(13;14)
- Array‐CGH study of partial trisomy 9p without mental retardation
- Detection of aneuploidy rate for chromosomes X, Y and 8 by fluorescence in-situ hybridization in spermatozoa from patients with severe non-obstructive oligozoospermia
- Screening for mutations of the FOXO4 gene in premature ovarian failure patients
- Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
- Assessment of chromosomal aberrations, micronuclei and proliferation rate index in peripheral lymphocytes from Tunisian nurses handling cytotoxic drugs
- Detection of DNA fragmentation and meiotic segregation in human with isolated teratozoospermia
- T(1;21;8)(p34;q22;q22): a novel variant of t(8;21) in acute myeloblastic leukemia with maturation
- Chromosomal Microarray Analysis in a Girl With Mental Retardation and Spina Bifida
- Hémophagocytose au cours d'une leucémie aiguë monoblastique avec une translocation t(3;8)(q27;q22): à propos d'un cas et revue de la littérature
- CC2D2Amutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation
- An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation
- A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure
- BMP15 and premature ovarian failure: causal mutations, variants, polymorphisms?
- Aromatase et infertilité masculine
- Single autologous stem-cell transplantation followed by maintenance therapy with thalidomide is superior to double autologous transplantation in multiple myeloma: results of a multicenter randomized clinical trial
- Chromosome abnormalities in one thousand infertile males with nonobstructive sperm disorders
- Timing of Second Autologous Transplantations in Multiple Myeloma: Results of a Multicenter Sequential Randomized Clinical Trial.
Revues de publication
- Journal of Assisted Reproduction and Genetics × 8
- Fertility and Sterility × 6
- Gene × 5
- Annales de biologie clinique × 4
- Urology × 3
- PLoS ONE × 2
Publications par année
- 20244
- 20232
- 20225
- 20214
- 20202
- 20195
- 20184
- 20176
- 20167
- 20158
Collaborations
Établissements partenaires : Institut Pasteur de Tunis · University of Monastir · Tunis University · Tunis El Manar University · University of Sfax
Pays des co-auteurs : France · Singapour · Afrique du Sud · Canada
Co-auteurs
- Moez Gribaa
- Hatem Elghezal
- Soumaya Mougou-Zerelli
- Dorra Hmida
- Ilhem Ben Charfeddine
- Abdelbasset Amara
- Ons Mamaï
- Najla Soyah
- Sonia Brahem
- Hanene Hannachi
- Wafa Slimani
- Mohamed DENGUEZLI
Données bibliographiques issues d’OpenAlex (base ouverte).
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