Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Sabrine Ben Brick A"'
Autor:
Slim Ben Ammar, Neji Tebib, Farah Ouechtati, Khaled Lasram, Marie Françoise Ben Dridi, Faten Talmoudi, Rym Kefi, Houyem Ouragini, Nizar Ben Halim, Insaf Rejeb, Olfa Messaoud, Asma Walha, Yosra Bouyacoub, Sonia Abdelhak, Mourad Mokni, Ahlem Amouri, Habib Messai, Sana Hsouna, Majdi Nagara, Ahlem Sabrine Ben Brick, Wafa Cherif, Leila El Matri, Faten Ben Rhouma, I. Chouchene, Mariem Ben Rekaya
Publikováno v:
American Journal of Human Biology. 28:171-180
Objectives Consanguinity is common in Tunisia. However, little information exists on its impact on recessive disorders. In this study, we evaluate the impact of consanguineous marriages on the occurrence of some specific autosomal recessive disorders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4de7f5fa3c497e90f4264cfcb27a3572
https://doi.org/10.1002/ajhb.22764
https://doi.org/10.1002/ajhb.22764
Autor:
Houda Yacoub-Youssef, Bécima Fazaa, Mourad Mokni, Ahlem Sabrine Ben Brick, Mohamed Samir Boubaker, Manel Jerbi, Meriem Jones, Sonia Abdelhak, Ashraf Chadli-Debbiche, Olfa Messaoud, Chiraz Mbarek, M. Zghal, Hamouda Boussen, Mariem Ben Rekaya
Publikováno v:
BioMed Research International, Vol 2013 (2013)
BioMed Research International
BioMed Research International
Xeroderma Pigmentosum(XP) is a rare recessive autosomal cancer prone disease, characterized by UV hypersensitivity and early appearance of cutaneous and ocular malignancies. We investigated four unrelated patients suspected to be XP-C. To confirm lin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e8e27e36abc25071fabdb6287e4df40
https://doi.org/10.1155/2013/316286
https://doi.org/10.1155/2013/316286
Autor:
Ben Halim, Nizar, Hsouna, Sana, Lasram, Khaled, Rejeb, Insaf, Walha, Asma, Talmoudi, Faten, Messai, Habib, Sabrine Ben Brick, Ahlem, Ouragini, Houyem, Cherif, Wafa, Nagara, Majdi, Rhouma, Faten Ben, Chouchene, Ibtissem, Ouechtati, Farah, Bouyacoub, Yosra, Ben Rekaya, Mariem, Messaoud, Olfa, Ben Ammar, Slim, El Matri, Leila, Tebib, Neji, Ben Dridi, Marie F., Mokni, Mourad, Amouri, Ahlem, Kefi, Rym, Abdelhak, Sonia
Publikováno v:
American Journal of Human Biology
American Journal of Human Biology, Wiley, 2016, 28 (2), pp.171-180. ⟨10.1002/ajhb.22764⟩
American Journal of Human Biology, Wiley, 2016, 28 (2), pp.171-180. ⟨10.1002/ajhb.22764⟩
International audience; Objectives Consanguinity is common in Tunisia. However, little information exists on its impact on recessive disorders. In this study, we evaluate the impact of consanguineous marriages on the occurrence of some specific autos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ad7f0f83c4f1233d3b0c1411d5d7d6e5
https://hal-riip.archives-ouvertes.fr/pasteur-01374977/document
https://hal-riip.archives-ouvertes.fr/pasteur-01374977/document
Autor:
Nizar Ben Halim, Mbarka Bchetnia, Khaled Lasram, Daniele Castiglia, Nadia Laroussi, Sonia Abdelhak, Lilia Romdhane, Rym Kefi, Mounira Meddeb Cherif, Houyem Ouragini, Mohamed Samir Boubaker, Hamida Turki, Ahlem Sabrine Ben Brick, Alain Hovnanian, Salaheddine Marrakchi, Hela Mesrati
Publikováno v:
Archives of Dermatological Research
Archives of Dermatological Research, Springer Verlag, 2014, 306 (4), pp.405-11. ⟨10.1007/s00403-013-1421-y⟩
Archives of Dermatological Research, Springer Verlag, 2014, 306 (4), pp.405-11. 〈10.1007/s00403-013-1421-y〉
Archives of Dermatological Research, Springer Verlag, 2014, 306 (4), pp.405-11. ⟨10.1007/s00403-013-1421-y⟩
Archives of Dermatological Research, Springer Verlag, 2014, 306 (4), pp.405-11. 〈10.1007/s00403-013-1421-y〉
International audience; Dystrophic epidermolysis bullosa (DEB) is a group of heritable bullous skin disorders caused by mutations in the COL7A1 gene. One of the most severe forms of DEB is the severe generalized [recessive dystrophic epidermolysis bu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dadbed3d4ad3a3a003b9a9cda16fb6f
https://hal-riip.archives-ouvertes.fr/pasteur-01061249
https://hal-riip.archives-ouvertes.fr/pasteur-01061249
Autor:
Mohamed Samir Boubaker, Ahlem Sabrine Ben Brick, Nadia Laroussi, Cherine Charfeddine, Mourad Mokni, Mariam Bozgia, Nizar Ben Halim, Mbarka Bchetnia, Sonia Abdelhak
Publikováno v:
International journal of dermatology. 54(12)
Mal de Meleda (MDM) is a rare autosomal recessive palmoplantar keratoderma (PPK). It is characterized by erythema and transgressive PPK that appears soon after birth and progressively extends to the dorsal aspects of the hands. MDM was originally des
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61d5ba6fc8b81969541dbd101637217a
https://pubmed.ncbi.nlm.nih.gov/24738704
https://pubmed.ncbi.nlm.nih.gov/24738704
Autor:
Jameleddine Zili, Nadia Laroussi, Rym Benmously, Ahlem Sabrine Ben Brick, Monia Youssef, Mbarka Bchetnia, Sonia Abdelhak, Mourad Mokni, Cherine Charfeddine, Mohamed Samir Boubaker
Publikováno v:
BioMed Research International
BioMed Research International, Vol 2013 (2013)
BioMed Research International, Hindawi Publishing Corporation, 2013, ⟨10.1155/2013/206803⟩
BioMed Research International, Vol 2013 (2013)
BioMed Research International, Hindawi Publishing Corporation, 2013, ⟨10.1155/2013/206803⟩
Mal de Meleda (MDM) is a rare, autosomal recessive form of palmoplantar keratoderma. It is characterized by erythema and hyperkeratosis of the palms and soles that progressively extend to the dorsal surface of the hands and feet. It is caused by muta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71382fc2f7b7241b5c8a2a85a8c95edd
https://pubmed.ncbi.nlm.nih.gov/24093092
https://pubmed.ncbi.nlm.nih.gov/24093092
Autor:
Cherine Charfeddine, Ahlem Sabrine Ben Brick, Samy Fenniche, Rym Benmously, Mourad Mokni, Achraf Chadli Debbiche, Mbarka Bchetnia, Mohamed Ben Ayed, Mohamed Fajraoui, Youssef Ben Ameur, Inçaf Mokhtar, Sonia Abdelhak
Publikováno v:
Archives of dermatological research. 301(8)
Darier's disease (DD, MIM 124200) also known as Darier-White disease and keratosis follicularis, is a rare autosomal dominant skin disorder characterized by warty papules and plaques in the seborrheic area (central trunk, flexures, scalp, and forehea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99de3bfc42a7b1e7b778bfda29d0707b
https://pubmed.ncbi.nlm.nih.gov/19488774
https://pubmed.ncbi.nlm.nih.gov/19488774
Autor:
Ben Halim N; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Hsouna S; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Lasram K; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Rejeb I; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Walha A; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Talmoudi F; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia.; Department of Histology and Cytogenetics, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Messai H; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Sabrine Ben Brick A; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Ouragini H; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Cherif W; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Nagara M; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Ben Rhouma F; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Chouchene I; Oculogenetics Research Unit, Hedi Rais Institute of Ophthalmology, Tunis, 1006, Tunisia., Ouechtati F; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Bouyacoub Y; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Ben Rekaya M; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Messaoud O; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Ben Ammar S; Clinical Biochemistry Laboratory, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., El Matri L; Oculogenetics Research Unit, Hedi Rais Institute of Ophthalmology, Tunis, 1006, Tunisia., Tebib N; Pediatric Department, La Rabta Hospital, Jebbari, 1007, Tunis, Tunisia., Ben Dridi MF; Pediatric Department, La Rabta Hospital, Jebbari, 1007, Tunis, Tunisia., Mokni M; Department of Dermatology, La Rabta Hospital, Jebbari, 1007, Tunis, Tunisia., Amouri A; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia.; Department of Histology and Cytogenetics, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Kefi R; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia., Abdelhak S; Biomedical Genomic and Oncogenetics Laboratory Lr11ipt05, Institut Pasteur de Tunis, Tunis, 1002, Tunisia.
Publikováno v:
American journal of human biology : the official journal of the Human Biology Council [Am J Hum Biol] 2016 Mar-Apr; Vol. 28 (2), pp. 171-80. Date of Electronic Publication: 2015 Jul 16.