Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Laila Rifai"'
Autor:
Simonetta Bandiera, François Cartault, Anne-Sophie Jannot, Elie Hatem, Muriel Girard, Laila Rifai, Clemence Loiseau, Arnold Munnich, Stanislas Lyonnet, Alexandra Henrion-Caude
Publikováno v:
PLoS ONE, Vol 8, Iss 1, p e54791 (2013)
Friedreich's ataxia (FRDA) is a severe neurodegenerative disease caused by GAA repeat expansion within the first intron of the frataxin gene. It has been suggested that the repeat is responsible for the disease severity due to impaired transcription
Externí odkaz:
https://doaj.org/article/5e64a3eceedd448abee048def4545885
Autor:
Mary E. Velthuizen, Amal Abedrabbo, Demetra Georgiou, Ala I. Sharara, Keivan Majidzadeh-A, Carol Jabari, Laila Rifai, Andreas Hadjisavvas, Fahd Al-Mulla, Hans F. A. Vasen, Zeinab Ghorbanoghli, Rihab Ben Sghaier, Suzan M Talaat, Rania Abu Seir, Gurbankhan Muslumov, Wail Hammoudeh, Maria A. Loizidou, Hadia Ziada-Bouchaar, George Cortas, Berrin Tunca, Makia J. Marafie, Aysel Ahadova, Waseem Hamoudi, Ladan Goshayeshi, Marie-Pierre Buisine, Mohammad Sina
Publikováno v:
Familial Cancer, 20, 215-221. SPRINGER
Familial Cancer
Familial Cancer
Background Lynch syndrome (LS), the most common inherited form of colorectal cancer (CRC), is responsible for 3% of all cases of CRC. LS is caused by a mismatch repair gene defect and is characterized by a high risk for CRC, endometrial cancer and se
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a90eb967f7206c8653eb4ab4f227ba8
https://link.springer.com/article/10.1007/s10689-020-00211-3
https://link.springer.com/article/10.1007/s10689-020-00211-3
Autor:
Suzanne Kuzbari, Séverine Drunat, Brigitte Benzacken, Laila Rifai, Alain Verloes, Anne-Claude Tabet, Marylin Port-Lis, Azzedine Aboura, Isabelle Bailleul-Forestier, Sandrine Passemard
Publikováno v:
American journal of medical genetics. Part A. (1)
We report on a patient with an interstitial deletion of the long arm of chromosome 2 at 2q31.2q33.2. She had prenatal and postnatal growth retardation, microcephaly, facial dysmorphism, cleft palate, camptodactyly, bilateral talipes equinovarus, seve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4b16ed86bac4fe3c75a8955cda7574d
https://pubmed.ncbi.nlm.nih.gov/20034071
https://pubmed.ncbi.nlm.nih.gov/20034071
Autor:
Clemence Loiseau, Simonetta Bandiera, Alexandra Henrion-Caude, Stanislas Lyonnet, Muriel Girard, Arnold Munnich, Elie Hatem, Anne-Sophie Jannot, Laila Rifai, François Cartault
Publikováno v:
PLoS ONE
PLoS ONE, Vol 8, Iss 1, p e54791 (2013)
PLoS ONE, Vol 8, Iss 1, p e54791 (2013)
Friedreich's ataxia (FRDA) is a severe neurodegenerative disease caused by GAA repeat expansion within the first intron of the frataxin gene. It has been suggested that the repeat is responsible for the disease severity due to impaired transcription
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40cb2ab01f9d846e7b75af795e2ae912
https://doi.org/10.1371/journal.pone.0054791
https://doi.org/10.1371/journal.pone.0054791
Publikováno v:
Cardiology in the Young. 17:107
Defects of the oval fossa usually occur as isolated malformations, but can show an autosomal dominant pedigree in familial cases. Several mutations have been described for the transcription factor NKX2-5, and co-segregate with varied cardiac anomalie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6623853b07fa83558914fa382ec7590a
https://doi.org/10.1017/s1047951106001338
https://doi.org/10.1017/s1047951106001338
Autor:
Geert Mortier, Yolande van Bever, Morteza Meradji, Yasemin Alanay, Ercan Mihci, Jan Hellemans, Abdelaziz Sefiani, Laila Rifai, Annelies Dheedene, Marleen Simon, Andrea Superti-Furga
Publikováno v:
American Journal of Human Genetics, 85(6), 916-922. Cell Press
Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is a rare skeletal dysplasia with only a few cases reported in the literature. Affected individuals have a disproportionate short stature with a short and stiff neck and trunk. The limbs appear rel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1718043b4456a3173d1182928c1b8211