Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Kriaa A"'
Autor:
Fatma, Kamoun Feki, Norhene, Fendri Kriaa, Dalinda, Kolsi, Ahmed, Rabai, Faiza, Fakhfakh, Chahnez, Charfi Triki
Publikováno v:
La Tunisie medicale. 97(4)
FS are the most benign occasional seizures in childhood. Little is known about the long term follow up. Aim: To describe a long term follow-up of FS in Tunisian families.Field study was conducted for 30 patients with FS. We analyzed clinical phenotyp
Autor:
Rania Ghorbel, Nourhene Fendri-Kriaa, Afif Ben Mahmoud, Marwa Kharrat, Ines Hsairi, Houda Kenoun, Houda Ben Othmen, Imen Abid, Chahnez Triki, Faiza Fakhfakh
Publikováno v:
Journal of Child Neurology. 30:1715-1721
Rett syndrome is a monogenic X-linked dominant neurodevelopmental disorder related to mutation in MECP2, which encodes the methyl-CpG–binding protein MeCP2. The aim of this study was to search for mutations of MECP2 gene in Tunisian Rett patients a
Autor:
Chahnez Triki, Yosra Kamoun, Leila Ammar-Keskes, Marwa Kharrat, Nourhene Fendri-Kriaa, Fatma Kamoun, Emna Ellouze, Ali Gargouri, Faiza Fakhfakh, Neila Belghith, Marwa Maalej
Publikováno v:
Journal of Child Neurology
Rett syndrome is an X-linked neurodevelopmental disorder, primarily caused by MECP2 mutations. In this study, clinical, molecular and bioinformatics analyses were performed in Rett patients to understand the relationship between MECP2 mutation type a
Autor:
Emna Mkaouar-Rebai, Faiza Fakhfakh, Aida Rouissi, Nourhene Fendri-Kriaa, Naziha Gouider-Khouja, Neila Belguith, Rania Ghorbel
Publikováno v:
Journal of Child Neurology. 27:564-568
Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder in females, is caused mainly by de novo mutations in the methyl-CpG-binding protein 2 gene ( MECP2). Rett patients present an apparently normal psychomotor development during the f
Autor:
Nourhene, Fendri-Kriaa, Ines, Hsairi, Chamseddine, Kifagi, Emna, Ellouze, Emna, Mkaouar-Rebai, Chahnez, Triki, Faiza, Fakhfakh, Fatma, Makni Ayedi
Publikováno v:
Biochemical and Biophysical Research Communications. 409:270-274
Highlights: {yields} Sequencing of the MECP2 gene, modeling and comparison of the two variants were performed in a Tunisian classical Rett patient. {yields} A double-mutation: a new and de novo mutation c.535C > T and the common one c.763C > T of the
Autor:
Ramzi Zemni, Neila Belguith, Dorsaf Moalla, Nacim Louhichi, Faiza Fakhfakh, Chahnez Triki, Nourhene Fendri-Kriaa, Emna Mkaouar-Rebai, Foued Slama
Publikováno v:
Journal of Child Neurology. 25:1042-1046
Rett syndrome is a severe disorder characterized by loss of acquired skills after a period of normal development in infant girls. It is caused mainly by mutations in the MECP2 gene. In this study, we reported mutations in the MECP2 gene in 7 Tunisian
Autor:
D. Kolsi, Chahnez Triki, F. Fakhfakh, Fatma Kammoun, Ahmed Rebai, Nourhene Fendri-Kriaa, I. Hadj Salem
Publikováno v:
European Journal of Neurology. 16:697-704
Background and purpose: Febrile Seizure can be associated with heterogeneous epilepsy phenotypes regrouped in a syndrome called generalized epilepsy with febrile seizures plus (GEFS+). The aim of this report is to search for the gene responsible for
Autor:
Neila Ben Romdhane, Mohamed Hsairi, Assia Ben Hassen, Leila Kammoun, Azza Kriaa, Saloua Ladeb, Abderrahman Abdelkefi, Lamia Torjman, Fethi Ladeb, Amel Lakhal, Wafa Achour, Mouna Chelli, Abdeladhim Ben Abdeladhim, Tarek Ben Othman
Publikováno v:
Thrombosis and Haemostasis. 92:654-661
SummaryWe have conducted a prospective randomized controlled trial to evaluate the role of low-dose unfractionated heparin prophylaxis in preventing central venous line-related thrombosis in patients with haemato-oncological disease. Patients were ra
Autor:
Fatma Kammoun, Ahmed Rebai, Chahnez Triki, Nourhene Fendri-Kriaa, Emna Mkaouar-Rebai, Ghazi Chabchoub, Faiza Fakhfakh, Nacim Louhichi, Ikhlass Hadj Salem
Publikováno v:
Journal of child neurology. 25(11)
Generalized epilepsy with febrile seizure plus (GEFS+) is an autosomal dominant disorder. In the literature, 5 responsible genes were identified and 2 novel susceptibility loci for GEFS+ at 2p24 and 8p23-p21 were reported, indicating the genetic hete
Autor:
C, Hafsa, M, Golli, S, Kriaa, R, Salem, S, Jerbi Omezzine, S, Bourogaa, M, Belguith, A, Nouri, A, Gannouni
Publikováno v:
Journal de radiologie. 88(7-8 Pt 1)
Retrovesical hydatid cyst is rare, even in endemic regions. From a presentation of three cases, the authors will review the clinical findings and illustrate the imaging features of this pathology and relate diagnostic and therapeutic difficulties.