Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Vasiliki Ninidu Ninis"'
Autor:
Mehmet Okyay Kılınç, Vasiliki Ninidu Ninis, Sibel Aylin Uǧur, Beyhan Tüysüz, Mehmet Seven, Sevim Balcı, Judith Goodship, Aslıhan Tolun
Publikováno v:
European Journal of Human Genetics. 11:851-857
Seckel syndrome (SCKL) is a rare disease with wide phenotypic heterogeneity. A locus (SCKL1) has been identified at 3q and another (SCKL2) at 18p, both in single kindreds afflicted with the syndrome. We report here a novel locus (SCKL3) at 14q by lin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01f0f45aeb75c4dbe26ea911f0b2aa04
https://doi.org/10.1038/sj.ejhg.5201057
https://doi.org/10.1038/sj.ejhg.5201057
Publikováno v:
Journal of Medical Genetics. 40:530-535
Obstructive pulmonary disease is an important health problem in all populations, and bronchiectasis of unknown aetiology (idiopathic bronchiectasis, IB) contributes significantly to the disease. The gene responsible for cystic fibrosis (CF), the cyst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ffc51060327b159c7cf501ead9f067b
https://doi.org/10.1136/jmg.40.7.530
https://doi.org/10.1136/jmg.40.7.530
Autor:
Mehmet Okyay Kilinc, Aslıhan Tolun, Ozgur Cogulu, Fazilet Karakoc, Gülden Huner, Mübeccel Demirkol, Zeliha Arıkan, Ferda Ozkinay, Elif Dagli, Vasiliki Ninidu Ninis
Publikováno v:
American Journal of Medical Genetics. 113:250-257
We analyzed the CFTR locus in 83 Turkish cystic fibrosis patients to identify mutations, haplotypes, and the carrier frequency in the population. We detected 36 different mutations in 125 (75%) of the total 166 CF chromosomes. Seven novel mutations w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b3efaaf84847e5534f0059ecea9e3d54
https://doi.org/10.1002/ajmg.10721
https://doi.org/10.1002/ajmg.10721
Autor:
Mehmet Okyay Kilinc, Aslıhan Tolun, G. Glover, Teresa Casals, Fazilet Karakoc, Elif Dagli, Vasiliki Ninidu Ninis, J Pena, Xavier Estivill, J. Ferrer-Calvete, J L Seculi, Mübeccel Demirkol, Esen Demir, Ferda Ozkinay, I Kremenski, C Calvo, Gülden Huner, Alexey Savov, C Bousono
Publikováno v:
Journal of Medical Genetics. 37:307-309
Editor—Cystic fibrosis (CF) is the most common lethal childhood disorder in white populations and occurs at a frequency of about 1/2500 with regional variations. Over 1000 mutations in the CF transmembrane conductance regulator ( CFTR ) gene accoun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b023b654073e635de3ff3c83b99e9b8
https://doi.org/10.1136/jmg.37.4.307
https://doi.org/10.1136/jmg.37.4.307
Autor:
Mehmet Okyay, Kilinç, Vasiliki Ninidu, Ninis, Elif, Dağli, Mübeccel, Demirkol, Ferda, Ozkinay, Zeliha, Arikan, Ozgür, Coğulu, Gülden, Hüner, Fazilet, Karakoç, Aslihan, Tolun
Publikováno v:
American journal of medical genetics. 113(3)
We analyzed the CFTR locus in 83 Turkish cystic fibrosis patients to identify mutations, haplotypes, and the carrier frequency in the population. We detected 36 different mutations in 125 (75%) of the total 166 CF chromosomes. Seven novel mutations w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0ba05ce2d5423d0fc23a106bbd7c28c0
https://pubmed.ncbi.nlm.nih.gov/12439892
https://pubmed.ncbi.nlm.nih.gov/12439892
Autor:
Judith A. Goodship, Sibel Aylin Ugur, Sevim Balci, Mehmet Seven, Vasiliki Ninidu Ninis, Mehmet Okyay Kilinc, Beyhan Tüysüz, Aslıhan Tolun
Publikováno v:
European Journal of Human Genetics. 23:140-140
Seckel syndrome (SCKL) is a rare disease with wide phenotypic heterogeneity. A locus (SCKL1) has been identified at 3q and another (SCKL2) at 18p, both in single kindreds afflicted with the syndrome. We report here a novel locus (SCKL3) at 14q by lin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fb19612722aadbac72692ad9263bd924
https://doi.org/10.1038/ejhg.2014.258
https://doi.org/10.1038/ejhg.2014.258