الرئيسية › دليل الباحثين › S. Dimassi

S. Dimassi

الانتماء : Hôpital Farhat Hached · University of Sousse

• 25منشورات (انتماء تونسي)
• 43مجموع المنشورات
• 444الاستشهادات
• 10مؤشر h

ORCIDOpenAlex

الملف البحثي

لدى S. Dimassi 25 منشور(ات) مفهرسة (2010–2026). تُنشر أعماله أساسًا في «Early Human Development»، «Research Square» و«Annales d Endocrinologie». أكثر مقالاته استشهادًا هو «Whole‐exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome» (2015)، وقد استُشهد به 84 مرة. 2 من هذه المنشورات تعود إلى آخر ثلاث سنوات من النشاط. شارك في تأليف أعماله 12 باحثًا على الأقل، منهم باحثون من مؤسسات في فرنسا.

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إنشاء ملفي المجاني إضافة منشوراتي

مجالات البحث

• Genomic variations and chromosomal abnormalities
• Genomics and Rare Diseases
• Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
• Genetics and Neurodevelopmental Disorders
• Sexual Differentiation and Disorders

المنشورات (25)

• Clinical and genomic characterization of corpus callosum abnormalities (CCA) in 107 Tunisian patients using a stepwise diagnostic approach
  2026 · Frontiers in Genetics
• Toward autism spectrum disorders and Williams-Beuren syndrome co-occurrence condition in Tunisian patients: Genetic insights
  2024 · AIMS molecular science · استُشهد به 1 مرة
• Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development
  2023 · Reproductive Biology and Endocrinology · استُشهد به 13 مرة
• Le profil socio-démographique dans le syndrome de Turner à l’âge adulte
  2023 · Annales d Endocrinologie
• 58P Molecular investigation using microarray-based comparative genomic hybridization in patients with myelodysplastic syndrome and normal karyotype
  2023 · ESMO Open
• Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review
  2022 · Molecular Cytogenetics · استُشهد به 12 مرة
• X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene
  2022 · BMC Medical Genomics · استُشهد به 4 مرة
• X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene
  2022 · Research Square
• Genotype-phenotype correlations for the type 1 lissencephaly of eight Tunisian children
  2022 · Journal of Clinical Images and Medical Case Reports
• X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene
  2022 · Research Square
• Autism in patients with Williams-Beuren syndrome: A re-evaluation of 31 Tunisian patients’ phenotype
  2022 · Research Square
• 45, X/47, XY, +13 MOSAICISM IN A 15-YEAR-OLD GIRL
  2022 · Journal of the ASEAN Federation of Endocrine Societies
• Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype
  2020 · BMC Medical Genetics · استُشهد به 3 مرة
• Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization
  2019 · Molecular Cytogenetics · استُشهد به 10 مرة
• Déficit en hormone de croissance chez des filles turnérienne : à propos de 4 cas
  2018 · Annales d Endocrinologie
• New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family
  2017 · Fertility and Sterility · استُشهد به 68 مرة
• Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea
  2016 · Fertility and Sterility · استُشهد به 16 مرة
• Whole‐exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome
  2015 · Clinical Genetics · استُشهد به 84 مرة
• Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA
  2015 · Applied & Translational Genomics · استُشهد به 32 مرة
• 732 Turner Syndrome: A Clinico-Cytogenetic Study of 37 Children
  2012 · Archives of Disease in Childhood · استُشهد به 2 مرة
• 736 Clinical and Cytogenetic Study in 116 Children Cohort with Sexual Ambiguity
  2012 · Archives of Disease in Childhood
• PP-196. The derivative 22 syndrome: A case report
  2010 · Early Human Development
• PP-198. Isochromosome 18q: A cytogenetic study
  2010 · Early Human Development
• PP-200. The antenatal diagnosis of chromosomal abnormalities: A Tunisian study about 10,944 cases
  2010 · Early Human Development
• PP-195. Supernumerary marker chromosome: A study about 47 perinatal cases
  2010 · Early Human Development

مجلات النشر

• Early Human Development × 4
• Research Square × 3
• Annales d Endocrinologie × 2
• Molecular Cytogenetics × 2
• Fertility and Sterility × 2
• Archives of Disease in Childhood × 2

المنشورات حسب السنة

• 20261
• 20241
• 20233
• 20227
• 20201
• 20191
• 20181
• 20171
• 20161
• 20152

التعاون العلمي

المؤسسات الشريكة : Hospices Civils de Lyon · University of Monastir · Lyon 1 Université · Centre National de la Recherche Scientifique · Hospital Fatuma Bourguiba Monastir

بلدان المؤلفين المشاركين : فرنسا

المؤلفون المشاركون

• Soumaya Mougou-Zerelli
• Molka Kammoun
• Ali Saâd
• Wafa Slimani
• Hatem Elghezal
• Ayda Bennour
• Khouloud Rjiba
• Ali Saad
• Hela Ben Khelifa
• Imen Ben Hadj Hmida
• M. Kacem
• Afef Jelloul

البيانات البيبليوغرافية مصدرها OpenAlex (قاعدة مفتوحة).