Zobrazeno 1 - 10
of 165
pro vyhledávání: '"Faiza, Fakhfakh"'
Autor:
Mariem Ben Said, Olfa Jallouli, Abir Ben Aissa, Amal Souissi, Fatma Kamoun, Faiza Fakhfakh, Saber Masmoudi, Ikhlas Ben Ayed, Chahnez Charfi Triki
Publikováno v:
Epilepsia Open, Vol 9, Iss 5, Pp 1697-1709 (2024)
Abstract Objective To develop a high‐throughput sequencing panel for the diagnosis of developmental and epileptic encephalopathy in Tunisia and to clarify the frequency of disease‐causing genes in this region. Methods We developed a custom panel
Externí odkaz:
https://doaj.org/article/4b8f1de5496245df8ee7e1d0e2710950
Autor:
Chahnez Charfi Triki, Salma Zouari Mallouli, Marwa Ben Jdila, Mariem Ben Said, Fatma Kamoun Feki, Sarah Weckhuysen, Sabeur Masmoudi, Faiza Fakhfakh
Publikováno v:
Epilepsia Open, Vol 9, Iss 3, Pp 906-917 (2024)
Abstract Objective Mutations in the cyclin‐dependent kinase‐like 5 gene (CDKL5) are associated with a wide spectrum of clinical presentations. Early‐onset epileptic encephalopathy (EOEE) is the most recognized phenotype. Here we describe phenot
Externí odkaz:
https://doaj.org/article/c640a6965bed4f77a3a6d07f66909886
Autor:
Olfa Siala-Sahnoun, Fatma Laadhar, Mouna Mnif, Wajdi Sefi, Faten Hadj Kacem, Mohamed A Kessentini, Mohamed Abid, Faiza Fakhfakh
Publikováno v:
Journal of the Arab Society for Medical Research, Vol 18, Iss 1, Pp 68-75 (2023)
Background/aim Turner syndrome (TS) is a rare sex chromosome abnormality in women, occurring in approximately one in 2500 live births, associated with a wide range of clinical stigmata of which short stature, ovarian dysgenesis, and dysmorphic featur
Externí odkaz:
https://doaj.org/article/195f05cc8a9446f098cef22e39a629c4
Autor:
Mariem Ennouri, Andreas D. Zimmer, Emna Bahloul, Rim Chaabouni, Slaheddine Marrakchi, Hamida Turki, Faiza Fakhfakh, Noura Bougacha-Elleuch, Judith Fischer
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-10 (2022)
Abstract Background Ichthyosis is a heterogeneous group of Mendelian cornification disorders that includes syndromic and non-syndromic forms. Autosomal Recessive Congenital Ichthyosis (ARCI) and Ichthyosis Linearis Circumflexa (ILC) belong to non-syn
Externí odkaz:
https://doaj.org/article/c57723e82e6245b4940077ca5311cf91
Autor:
Marwa Ben Jdila, Cécile Mignon-Ravix, Sihem Ben Ncir, Fatma Kammoun, Faiza Fakhfakh, Laurent Villard, Chahnez Triki
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)
Abstract Background Developmental and epileptic encephalopathies (DEE) are chronic neurological conditions where epileptic activity contributes to the progressive disruption of brain function, frequently leading to impaired motor, cognitive and senso
Externí odkaz:
https://doaj.org/article/58e44db4600b4bbc83570bb929e59106
Autor:
Nacim Louhichi, Emna Bahloul, Slaheddine Marrakchi, Houda Ben Othman, Chahnez Triki, Kawthar Aloulou, Lobna Trabelsi, Nadia Mahfouth, Zeineb Ayadi-Mnif, Leila Keskes, Faiza Fakhfakh, Hamida Turki
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-8 (2019)
Abstract Background Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol in most organs. The aim of our study was to investigate various organs in a large series of CDS patients. Results We report
Externí odkaz:
https://doaj.org/article/2d57499c78b04551bfa10e55a114fbc3
Autor:
Mouna Tabebi, Wajdi Safi, Rahma Felhi, Olfa Alila Fersi, Leila Keskes, Mohamed Abid, Mouna Mnif, Faiza Fakhfakh
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Abstract Background Mitochondrial diabetes (MD) is a rare monogenic form of diabetes and divided into type l and type 2. It is characterized by a strong familial clustering of diabetes with the presence of maternal transmission in conjunction with bi
Externí odkaz:
https://doaj.org/article/8c8a1057c14b4cd1bd474c4e605bf461
Autor:
Sahar Laadhar, Riadh Ben Mansour, Slaheddine Marrakchi, Nabil Miled, Mariem Ennouri, Judith Fischer, Mohamed Ali Kaddechi, Hamida Turki, Faiza Fakhfakh
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background The NIPAL4 gene is described to be implicated of Congenital Ichthyosiform Erythroderma (CIE). It encodes a magnesium transporter membrane‐associated protein, hypothetically involved in epidermal lipid processing and in lamellar
Externí odkaz:
https://doaj.org/article/0e7a5639f38445b0b8d339fd5a8a6493
Autor:
Houda Kanoun, Faiçal Jarraya, Bayen Maalej, Amina Lahiani, Hichem Mahfoudh, Fatma Makni, Jamil Hachicha, Faiza Fakhfakh
Publikováno v:
BMC Nephrology, Vol 18, Iss 1, Pp 1-10 (2017)
Abstract Background Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder of glyoxylate metabolism in which excessive oxalates are formed by the liver and excreted by the kidneys. Calcium oxalate crystallizes in the urine, l
Externí odkaz:
https://doaj.org/article/01c505f1ebc94f27b43724793dc95d09
Autor:
Marwa Ammar, Wajdi Safi, Abdelaziz Tlili, Olfa Alila‐Fersi, Fakher Frikha, Jihen Chouchen, Fatma Mnif, Marwa Kharrat, Marwa Maalej, Rahma Felhi, Mohamed Abid, Mouna Mnif‐Feki, Faten Hadj Kacem, Faiza Fakhfakh, Emna Mkaouar‐Rebai
Publikováno v:
International Journal of Developmental Neuroscience. 82:626-638
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE; OMIM 603041) is a rare inherited metabolic disorder mostly caused by mutations in TYMP gene encoding thymidine phosphorylase (TP) protein that affects the mitochondrial nucleotide metaboli