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12篇 您的检索式:作者名="Gribaa"
    题名 作者 年代 出处 被引量
1Placental mesenchymal dysplasia with Beckwith-Wiedemann syndrome fetus in the context of biparental and androgenic cell lines显示文摘H'mida D Gribaa M Yacoubi T 2008Placenta2008,29,5:1
2Correlation of SMN 2, NAIP , p44 , H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients显示文摘Abdelbasset Amara Labiba Adala Ilhem Ben Charfeddine Ons Mama? Amira Mili Taheni Ben Lazreg Dorra H’mida Fathi Amri Najla Salem Lamia Boughammura Ali Saad Moez Gribaa 2011European Journal of Paediatric Neurology2011,,2:1
3Characterization of new variants of avian infectious bronchitis virus in Tunisia显示文摘Bourogaa H Miled K Gribaa L 2009Avian Dis2009,53,3:1
4Characteriza- tion of new variants of avian infectious bronchitis vi- rus in Tunisia显示文摘Bourogaa H Miled K Gribaa L 2009Avian Dis2009,53,3:1
5Characterization of new variants of avian infections bronchitis virus in Tunisia显示文摘BOUROGAA H MILED K GRIBAA L 2009Avian Dis2009,53,3:1
6Identification and functional consequences of a novel MREI1 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder 显示文摘Fernet M Gribaa M Salih MA 2005Hum Mol Genet2005,14,2:1
7The QT interval: standardization, limits and interpretation 显示文摘Ouali S Ben Salem H Gribaa R 2012Ann Cardiol Angeiol (Paris)2012,61,:1
8Placental mesenchymal dyspla-sia with beckwith-wiedemann syndrome fetus in the context of biparen-tal and androgenic cell lines显示文摘H′mida D Gribaa M Yacoubi T 0,,:1
9Hereditary sensory and autonomic neuropathy type IV : a report on two cases显示文摘Achouri E Gribaa M Bouguila J 2011Arch Pediatr2011,18,4:1
10Anomalous origin of the left coronary artery from the pulmonary artery presenting as dilated cardiomyopathy: a case report 显示文摘Gribaa R Slim M Ben Salem H 2014J Med Case Rep2014,8,:1
11Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome显示文摘BACKGROUND Angelman syndrome(AS)is caused by maternal chromosomal deletions,imprinting defects,paternal uniparental disomy involving chromosome 15 and the ubiquitin-protein ligase UBE3A gene mutations.However the genetic basis remains unclear for several patients.AIM To investigate the involvement of UBE3A gene in AS and identifying new potential genes using exome sequencing.METHODS We established a cohort study in 50 patients referred to Farhat Hached University Hospital between 2006 and 2021,with a strong suspicion of AS and absence of chromosomal aberrations.The UBE3A gene was screened for mutation detection.Two unrelated patients issued from consanguineous families were subjected to exome analysis.RESULTS We describe seven UBE3A variants among them 3 none previously described including intronic variants c.2220+14T>C(intron14),c.2507+43T>A(Exon15)and insertion in Exon7:c.30-47_30-46.The exome sequencing revealed 22 potential genes that could be involved in AS-like syndromes that should be investigated further.CONCLUSION Screening for UBE3A mutations in AS patients has been proven to be useful to confirm the diagnosis.Our exome findings could rise to new potential alternative target genes for genetic counseling.Wiem Manoubi Marwa Mahdouani Dorra Hmida Ameni Kdissa Aida Rouissi Ilhem Turki Neji Gueddiche Najla Soyah Ali Saad Christian Bouwkamp Ype Elgersma Soumaya Mougou-Zerelli Moez Gribaa 2024World Journal of Clinical Cases2024,12,3:0
12A Spatio-Temporal Odyssey Around the Concepts of Sustainable Development and Corporate Social Responsibility: Boundaries to Be Determined?显示文摘Azzedine Tounes Wafa Chakroun Fafani Gribaa 2011Journal of Modern Accounting and Auditing2011,7,10:0
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