Výsledky vyhledávání

Akademický článek

EGFR mutation status in Tunisian non-small-cell lung cancer patients evaluated by mutation-specific immunohistochemistry

Autor: Zohra Mraihi, Jihen Ben Amar, Hend Bouacha, Soumaya Rammeh, Lamia Hila

Publikováno v: BMC Pulmonary Medicine, Vol 18, Iss 1, Pp 1-8 (2018)

Abstract Background Screening mutations in epidermal growth factor receptor (EGFR) to analyze non-small-cell lung cancer (NSCLC) profile is the criterion to choose the best therapeutic strategy. New Oncology guidelines recommend EGFR mutation analysi

Externí odkaz: https://doaj.org/article/432b576001374ac2a763c759e3dcfb7d

Zobrazit plný text záznamu

Akademický článek

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

Autor: Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly, Lamia Benjemaa

Publikováno v: BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)

Abstract Background Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobilit

Externí odkaz: https://doaj.org/article/614fdc369a794feb9b8fc2e67c75d19f

Zobrazit plný text záznamu

ABCB1 Polymorphisms and Drug-Resistant Epilepsy in a Tunisian Population

Autor: Lamia Hila, Malek Chouchi, Hedia Klaa, Ilhem Turki

Publikováno v: Disease Markers, Vol 2019 (2019)
Disease Markers

Background. Epilepsy is one of the most common neurological disorders with about 30% treatment failure rate. An interindividual variations in efficacy of antiepileptic drugs (AEDs) make the treatment of epilepsy challenging, which can be attributed t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4f552effd1f109723c855b6c1aba1ed
https://doi.org/10.1155/2019/1343650

Zobrazit plný text záznamu

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations

Autor: Lamia Hila, Houweyda Jilani, Syrine Hizem, Yasmina Elaribi, Imen Rejeb, Julia Lauer Zillahrdt, Jamel Chelly, Lamia BenJemaa

Publikováno v: BMC Medical Genetics
BMC Medical Genetics, 2017, 18 (1), pp.134. ⟨10.1186/s12881-017-0493-5⟩
BMC Medical Genetics, BioMed Central, 2017, 18 (1), pp.134. ⟨10.1186/s12881-017-0493-5⟩
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)

International audience; BACKGROUND:Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::557ae1d12c89af6ef7db07a744b1045a
https://www.hal.inserm.fr/inserm-02304793/file/s12881-017-0493-5.pdf

Zobrazit plný text záznamu

MLPA Subtelomere Analysis in Tunisian Mentally Retarded Patients

Autor: Habiba Chaabouni, Hedia Tébourbi, Lamia Ben Jemaa, Leila Abaied, Lamia Hila, Imène Rejeb

Publikováno v: Biochemical Genetics. 47:727-733

Subtelomeric rearrangements significantly contribute to idiopathic mental retardation and result in several mental retardation syndromes; however, most subtelomeric defects lack a characteristic phenotype. Thirty patients with unexplained mental reta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca6ecbdcbb5ec22ca67e9cbc2d0730cd
https://doi.org/10.1007/s10528-009-9271-1

Zobrazit plný text záznamu

[Interest of studying subtelomeric abnormalities by in situ fluorescent hybridization to explore idiopathic mental retardation]

Autor: Lamia, Hila, Lamia, Ben Jemaa, Raja, Daoudi, Faouzi, Maazoul, Habiba, Chaabouni

Publikováno v: La Tunisie medicale. 86(5)

Nowadays, the genetic basis of mental retardation is a huge field of investigations. Genetic abnormalities frequently give rise to a mental retardation phenotype and are observed in 10 to 40% of known etiologies. New syndromes have identified (chromo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7fa7b069e765e46186da0ea5b7461914
https://pubmed.ncbi.nlm.nih.gov/19469308

Zobrazit plný text záznamu

Subtelomeric microduplications in three sisters with moderate mental retardation

Autor: Leila Abeid, Imen Rejeb, Hedia Tébourbi, Lamia Hila, Habiba Chaabouni

Publikováno v: Biochemical genetics. 48(11-12)

Copy number changes of subtelomeric regions are a common cause of mental retardation, occurring in approximately 5% of mentally retarded patients. New molecular techniques allow the identification of subtelomeric microduplications. We report a Tunisi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6211847914a8caac5b4789497f61a756
https://pubmed.ncbi.nlm.nih.gov/20811773

Zobrazit plný text záznamu

Relationship between ABCB1 3435TT genotype and antiepileptic drugs resistance in Epilepsy: updated systematic review and meta-analysis

Autor: Ilhem Turki, Lamia Hila, Hedia Klaa, Kalthoum Tizaoui, Wajih Kaabachi, Malek Chouchi

Publikováno v: BMC Neurology

Background Antiepileptic drugs (AEDs) are effective medications available for epilepsy. However, many patients do not respond to this treatment and become resistant. Genetic polymorphisms may be involved in the variation of AEDs response. Therefore,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c47c6973fc7bd8e6796ef2459e016ff

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání