Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Imen Ben, Rebeh"'
Autor:
Bassam R Ali, Imen Ben-Rebeh, Anne John, Nadia A Akawi, Reham M Milhem, Nouf A Al-Shehhi, Mouza M Al-Ameri, Shamma A Al-Shamisi, Lihadh Al-Gazali
Publikováno v:
PLoS ONE, Vol 6, Iss 10, p e26206 (2011)
Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant genetic condition affecting the vascular system and is characterised by epistaxis, arteriovenous malformations and mucocutaneous and gastrointestinal telangiectases. This disorder
Externí odkaz:
https://doaj.org/article/0c1361e492a343028561c1a1d16335c9
Autor:
Fatma Al-Jasmi, Lihadh Al-Gazali, Muhaned A. Marah, Thikra Abbas, Salma Ben Salem, Leila Ayadi, Jozef Hertecant, Said Al-Yahyaee, Bassam R. Ali, Imen Ben-Rebeh
Publikováno v:
European Journal of Medical Genetics. 55:671-676
Isovaleric acidemia (IVA) is an autosomal recessive inborn error of leucine metabolism caused by deficiency of mitochondrial isovaleryl-CoA dehydrogenase (IVD). Accumulation of isovaleryl-CoA derivatives to toxic levels results in clinical symptoms o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a8b03ecbe52089426510b5ffaf213f1
https://doi.org/10.1016/j.ejmg.2012.08.001
https://doi.org/10.1016/j.ejmg.2012.08.001
Autor:
Saber Masmoudi, J. Mnif, Leila Dhouib, Leila Ayadi, Mohamed Ali Mosrati, Ilhem Charfeddine, B. Hammami, Imen Ben Rebeh, Khaireddine Ben mahfoudh, Abdelmonem Ghorbel, Bochra Hakim
Publikováno v:
European Journal of Medical Genetics. 54:e484-e488
Branchio-oto-renal (BOR) and Branchio-otic (BO) syndromes are dominant disorders characterized by variable hearing impairment (HI) and branchial defects. BOR includes additional kidney malformations. BO/BOR syndromes are genetically heterogeneous and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b87460a58d8e31f991ac9ba34b6e315
https://doi.org/10.1016/j.ejmg.2011.06.001
https://doi.org/10.1016/j.ejmg.2011.06.001
Autor:
Imen Ben Rebeh, Imed Lahmar, Hanen Belguith, Hammadi Ayadi, Houria Dhouib, Abdelmonem Ghorbel, Ilhem Charfeddine, Nabil Driss, Saber Masmoudi, Abedelaziz Tlili
Publikováno v:
Biochemical and Biophysical Research Communications. 385:1-5
Biallelic mutations in the GJB2, GJB3, GJB6 and CLDN14 genes have been implicated in autosomal recessive non-syndromic hearing impairment (ARNSHI). Moreover, a large number of GJB2 heterozygous patients was reported. The phenotype was in partly justi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfda73f6dfd283dd2be28bb2c694d7f5
https://doi.org/10.1016/j.bbrc.2009.02.125
https://doi.org/10.1016/j.bbrc.2009.02.125
Autor:
Nourhene Fendri-Kriaa, Fatma Kamoun, Zaineb Abdelkafi, Imen Ben Rebeh, Faiza Fakhfakh, Chahnez Triki
Publikováno v:
Genetic Testing and Molecular Biomarkers. 13:109-113
Patients with classical Rett show an apparently normal psychomotor development during the first 6-18 months of life. Thereafter, they enter a short period of developmental stagnation followed by a rapid regression in language and motor development. P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ba86e67e8a5ebaaa3a73ce52ea8eec7
https://doi.org/10.1089/gtmb.2008.0076
https://doi.org/10.1089/gtmb.2008.0076
Autor:
Imen Ben Rebeh, Imed Lahmar, Ilhem Charfedine, Mounira Aifa-Hmani, Houria Dhouib, Abdelmonem Ghorbel, Hammadi Ayadi, Mariem Ben Said, Saber Masmoudi, Abdelaziz Tlili, Jihen Tlili-Chouchène, Jihen Moalla, Nabil Driss, Zeineb Benzina
Publikováno v:
Audiology and Neurotology. 13:213-218
Hereditary nonsyndromic hearing impairment (HI) is extremely heterogeneous. Mutations of the transmembrane channel-like gene 1 (TMC1) have been shown to cause autosomal dominant and recessive forms of nonsyndromic HI linked to the loci DFNA36 and DFN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7596940307d84d4204b14848edc6ed0
https://doi.org/10.1159/000115430
https://doi.org/10.1159/000115430
Autor:
Dorra Sellami, Rahma Felhi, Saber Masmoudi, Fakhri Kallabi, Leila Keskes, Hassen Kamoun, Imen Ben Rebeh
Publikováno v:
Hormone research in paediatrics. 85(1)
Background/Aims: Allgrove syndrome is a rare autosomal recessive disorder characterized by alacrima, achalasia, and adrenal insufficiency. It is caused by mutations of the AAAS gene located on chromosome 12q13 encoding the WD-repeat protein ALADIN. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6182c1d6fa2b317d6cd0eeff10954935
https://pubmed.ncbi.nlm.nih.gov/26595337
https://pubmed.ncbi.nlm.nih.gov/26595337
Autor:
Ilhem Charfedine, Ahmed Rebai, S. Masmoudi, Imen Ben Rebeh, Abdelmonem Ghorbel, Christine Petit, H. Ayadi, Abdelaziz Tlili, Malika Drira, H Belguith
Publikováno v:
Clinical Genetics. 66:358-364
The locus for a type of an autosomal recessive non-syndromic deafness (ARND), DFNB13, was previously mapped to a 17-cm interval of chromosome 7q34-36. We identified two consanguineous Tunisian families with severe to profound ARND. Linkage analyses w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::665892312584e5901ac21828a32e7b50
https://doi.org/10.1111/j.1399-0004.2004.00311.x
https://doi.org/10.1111/j.1399-0004.2004.00311.x
Autor:
Bassam R. Ali, Jozef Hertecant, Lihadh Al-Gazali, Imen Ben-Rebeh, Fatma Al-Jasmi, Said Al-Yahyaee, Hanan E. Aburawi
Inborn errors of metabolism (IEM) are frequently encountered by physicians in the United Arab Emirates (UAE). However, the mutations underlying a large number of these disorders have not yet been determined. Therefore, the objective of this study was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1404685fe75cdb134c68f24e114f80c4
https://europepmc.org/articles/PMC3354585/
https://europepmc.org/articles/PMC3354585/
Autor:
Abdelaziz, Tlili, Imen Ben, Rebeh, Mounira, Aifa-Hmani, Houria, Dhouib, Jihen, Moalla, Jihen, Tlili-Chouchène, Mariem Ben, Said, Imed, Lahmar, Zeineb, Benzina, Ilhem, Charfedine, Nabil, Driss, Abdelmonem, Ghorbel, Hammadi, Ayadi, Saber, Masmoudi
Publikováno v:
Audiologyneuro-otology. 13(4)
Hereditary nonsyndromic hearing impairment (HI) is extremely heterogeneous. Mutations of the transmembrane channel-like gene 1 (TMC1) have been shown to cause autosomal dominant and recessive forms of nonsyndromic HI linked to the loci DFNA36 and DFN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::376a60cf36c20ca12005c5e7c8280f0a
https://pubmed.ncbi.nlm.nih.gov/18259073
https://pubmed.ncbi.nlm.nih.gov/18259073