Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Sonia Nouira"'
Autor:
Houyem Ouragini, Sonia Nouira, Emna Bouatrous, Monia Ouederni, Salem Abbes, Samia Menif, Monia Ben Khaled
Publikováno v:
Journal of Pediatric Hematology/Oncology. 43:e1055-e1058
Several causes are known to be at the origin of neonatal cyanosis among them methemoglobinemia is by inheritance of an hemoglobin (Hb) M variant. This is a rare condition never been reported in Tunisia so far. Here, we report a Tunisian newborn with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::986b0846d5d4ac9463664d9aa7922296
https://doi.org/10.1097/mph.0000000000002096
https://doi.org/10.1097/mph.0000000000002096
Publikováno v:
Acta cardiologica. 75(7)
Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare disease presenting with syncopal events and sudden cardiac death at a young age in the absence of structural heart disease. Two major genes have been shown to be respo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2f0d8bc81e0641f54e4f069735d822c
https://pubmed.ncbi.nlm.nih.gov/31453761
https://pubmed.ncbi.nlm.nih.gov/31453761
Autor:
Mourad Mokni, Imen Arfa, Sonia Abdelhak, Ahlem Amouri, Salem Kachboura, Faten Talmoudi, Neji Tebib, Nissaf Ben Alaya Bouafif, Marie-Françoise Ben Dridi, Wafa Cherif, Leila El Matri, Yosra Bouyacoub, Saida Ben Arab, Sonia Nouira, Welid Ghazouani, Ibtissem Chouchane, Rym Kefi Ben Atig, Lilia Romdhane, Nizar Ben Halim, Abdelmajid Abid, Khaled Lasram, Sana Hsouna, Hela Azaiez, Koussay Dellagi
Publikováno v:
Journal of community genetics. 4(2)
Consanguinity refers to marriages between individuals who share at least one common ancestor. In clinical genetics, a consanguineous marriage is defined as a union between two individuals who are related as second cousins or closer, with the inbreedi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e9215b718b4d1eccfacce5f6a939419
https://pubmed.ncbi.nlm.nih.gov/23208456
https://pubmed.ncbi.nlm.nih.gov/23208456
Autor:
Sonia Nouira, Ahmed Rebai, K. Derouiche, K. Baklouti, A. Merdassi, Houyem Ouragini, Francis L. Munier, Leila Tiab, Daniel F. Schorderet, Farah Ouechtati, Yosra Bouyacoub, Sonia Abdelhak, Leonidas Zografos, Leila El Matri, L. Largueche
Publikováno v:
Journal of Human Genetics
Journal of Human Genetics, Nature Publishing Group, 2011, 56 (1), pp.22-8. ⟨10.1038/jhg.2010.128⟩
Journal of human genetics
Journal of Human Genetics, Nature Publishing Group, 2011, 56 (1), pp.22-8. ⟨10.1038/jhg.2010.128⟩
Journal of human genetics
Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations. This retinal disorder is characterized by complete loss of color discrimination due to the absence or alteration of the cones functi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecc94c6ce73d19aac005d0c0a9917d92
https://hal-riip.archives-ouvertes.fr/pasteur-00604858
https://hal-riip.archives-ouvertes.fr/pasteur-00604858
Autor:
Fatma Ouarda, Cherine Charfeddine, Sonia Abdelhak, Imen Arfa, Houyem Ouragini, Fekria Abid, Sonia Nouira
Publikováno v:
Heart and Lung
Heart and Lung, Elsevier, 2010, 39 (5), pp.432-6. ⟨10.1016/j.hrtlng.2009.10.012⟩
Heart and Lung, Elsevier, 2010, 39 (5), pp.432-6. ⟨10.1016/j.hrtlng.2009.10.012⟩
International audience; BACKGROUND: Wolff-Parkinson-White (WPW) syndrome is an autosomal-dominant heart disease characterized by an accessory pathway that arises from an aberrant conduction from the atria to the ventricles. Several mutations within t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dfac29def5908793b284693359382cc
https://hal-riip.archives-ouvertes.fr/pasteur-00612166
https://hal-riip.archives-ouvertes.fr/pasteur-00612166
Autor:
Imen, Arfa, Sonia, Nouira, Abdelmajid, Abid, Nissaf, Bouafif-Ben Alaya, Mohamed Majdi, Zorgati, Dhafer, Malouche, Imen, Manai, Mohamed Chiheb, Ben Rayana, Samira, Blousa-Chabchoub, Habiba, Ben Romdhane, Mohammed Slim, Ben Ammar, Afif, Ben Salah, Sonia, Abdelhak
Publikováno v:
La Tunisie medicale. 88(1)
The genes encoding renin-angiotensin system (RAS) components are potent candidate genes in both hypertension and diabetes namely ACE encoding the angiotensin converting enzyme and AGT encoding angiotensinogen. It has been suggested that the insertion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fb693359437373a514c2f87a82b0a45e
https://pubmed.ncbi.nlm.nih.gov/20415212
https://pubmed.ncbi.nlm.nih.gov/20415212
Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family
Autor:
Sonia Abdelhak, Bechir Jelliti, Farah Ouechtati, Sonia Nouira, Moncef Khairallah, Salim Ben Yahia, Sonia Chakroun
Publikováno v:
Journal of human genetics. 54(9)
Microspherophakia seems to be the most specific feature of the Weill-Marchesani Syndrome, which could be due to mutations within the ADAMTS10 gene. As the locus responsible for isolated microspherophakia is still unknown, because the reported cases a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::327387436faa6703c51d4c7f26fa2617
https://pubmed.ncbi.nlm.nih.gov/19696795
https://pubmed.ncbi.nlm.nih.gov/19696795
Autor:
S. Ben Fadhel, I. Dorboz, S. Blousa-Chabchoub, Sonia Abdelhak, Ikram Kammoun, S Ben Ammar, Houyem Ouragini, Welid Ghazouani, Salem Kachboura, Sonia Nouira, Mohamed Majdi Zorgati, Imen Arfa, Abdelmajid Abid
Publikováno v:
Diabetes research and clinical practice. 87(2)
We report the identification of two novel polymorphisms in the PRKAG2 gene and preliminary association study between 5'-UTR and exon 1 polymorphisms with susceptibility to type 2 diabetes. No association with type 2 diabetes was identified. However,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77292559a751cb22d5e5e921279d46f6
https://pubmed.ncbi.nlm.nih.gov/20022652
https://pubmed.ncbi.nlm.nih.gov/20022652
Autor:
M. Zghal, M. Ben Rekaya, Hammouda Boussen, Sonia Abdelhak, Ahlem Amouri, Samir Boubaker, Sonia Nouira, I Mokthar, Houyem Ouragini, Faten Talmoudi, Olfa Messaoud, Mourad Mokni
Publikováno v:
Journal of human genetics. 54(7)
Xeroderma pigmentosum (XP, OMIM 278700–278780) is a group of autosomal recessive diseases characterized by hypersensitivity to UV rays. There are seven complementation groups of XP (XPA to XPG) and XPV. Among them, the XP group C (XP-C) is the most
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1fc01d6a806eb1c903264060247fd1a
https://pubmed.ncbi.nlm.nih.gov/19478817
https://pubmed.ncbi.nlm.nih.gov/19478817
Autor:
Sabrine Ahlem Ben Brick, W. Daoud, Monica Pascucci, Nabiha Mahdhaoui, Daniele Castiglia, Houyem Ouragini, Kamel Monastiri, Amel Ben Osman-Dhahri, Giovanna Floriddia, Mohammed Ridha Kamoun, Hassen Seboui, F. Cherif, Sonia Nouira, Selma Kassar, Rym Kefi, Samir Boubaker, Ridha Mrad, Mohamed Denguezli, Mourad Mokni, Sonia Abdelhak
Publikováno v:
Journal of dermatological science. 57(2)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a342c6fa7b90d0b64c0515004d7cbb9e
https://pubmed.ncbi.nlm.nih.gov/20060269
https://pubmed.ncbi.nlm.nih.gov/20060269