Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Atieh Hajianpour"'
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100579- (2023)
Externí odkaz:
https://doaj.org/article/e7e65b406e9c4d2baef9c165eaa5ab97
Publikováno v:
Molecular Genetics and Metabolism. 132:S284-S285
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::26165009322d9903d07241b101a6d86d
https://doi.org/10.1016/s1096-7192(21)00525-4
https://doi.org/10.1016/s1096-7192(21)00525-4
Autor:
Farzad Nooraie, Mike Moradian, Mariam Ghochani, Ruan Ramjit, Casey Brewer, Abbas Padeganeh, Rezvan Habibian, Atieh Hajianpour
Publikováno v:
Molecular Genetics and Metabolism. 132:S287
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4dc071a2f40b041532bd59dea947344f
https://doi.org/10.1016/s1096-7192(21)00529-1
https://doi.org/10.1016/s1096-7192(21)00529-1
Autor:
Mike Moradian, Atieh Hajianpour, Casey Brewer, Lady J. Becerra, Syed A. Ahmed, Abbas Padeganeh, Ruan Ramjit, Mariam Ghochani
Publikováno v:
Cancer Genetics. :S14
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1756f11adcfbb2b05c973236b7dbf9e4
https://doi.org/10.1016/j.cancergen.2021.01.052
https://doi.org/10.1016/j.cancergen.2021.01.052
Publikováno v:
Cancer Genetics. :S3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8de1b448fec756ed8eace499a42fbc86
https://doi.org/10.1016/j.cancergen.2021.01.019
https://doi.org/10.1016/j.cancergen.2021.01.019
Autor:
Frederick V. Schaefer, Jean Amos, Atieh Hajianpour, Alison Millson, Leonard E. Grosso, Timothy T. Stenzel, Daynna J. Wolff, Silvia Spitzer, Elaine Lyon, Siby Sebastian, Annette K. Taylor
Publikováno v:
Clinical Chemistry. 50:251-254
Cystic fibrosis (CF) is the most common life-limiting recessive genetic disorder in Caucasians, with a carrier frequency of ∼1 in 25 and incidence of ∼1 in 2500–3300 live births (1). CF is caused by mutations affecting the transmembrane conduct
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::568759bb6237633a5907af0651e087ae
https://doi.org/10.1373/clinchem.2003.028068
https://doi.org/10.1373/clinchem.2003.028068
Publikováno v:
American Journal of Medical Genetics. 63:335-339
We report on a 30-year-old woman with de novo ring chromosome 12 mosaicism, 46,XX,r(12)(p13.3q24.3)/46,XX. In addition to the clinical manifestations generally observed in {open_quotes}ring syndrome{close_quotes} cases such as growth retardation, sho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4cfa6e4bfec6bdbabcc7437dd3a44938
https://doi.org/10.1002/(sici)1096-8628(19960517)63:2<335::aid-ajmg2>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19960517)63:2<335::aid-ajmg2>3.0.co
Publikováno v:
Scopus-Elsevier
Fanconi anaemia (FA) is an autosomal recessive disorder associated with bone-marrow failure and hypersensitivity to DNA cross-linking agents. At least four complementation groups have been defined, and a cDNA which corrects the defect in group C cell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17c82dcd7acb6200c52786bd8afb4699
https://doi.org/10.1093/hmg/2.6.797
https://doi.org/10.1093/hmg/2.6.797
Autor:
Charmaine Havenga, Neil V. Morgan, Ian C. Pearson, Atieh Hajianpour, Judith C. W. Marsh, Laura H. Goldstein, Christopher G. Mathew, M. Murer-Orlando, Nicola Foot, Farkondeh Birjandi, Sheila P. Mohan, Thomas Pearson, Elena Samochatova, Rachel A. Gibson, Irene Roberts, Inderjeet Dokal, Juan C. Llerena, Richard J. Cohn, R. David Milner, Thomy J. L. de Ravel, Sarah E. Ball, Stander Jansen, Isabel M. Marques, Pushpa Vasudevan, I Kesterton
Fanconi anemia (FA) is an autosomal recessive disorder associated with hypersensitivity to DNA cross-linking agents and bone marrow failure. At least four complementation groups have been defined, and the FA group C gene (FAC) has been cloned. We hav
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::601451df0deb90420c7ce36a9618b13d
https://doi.org/10.1002/(sici)1098-1004(1996)8:2<140::aid-humu6>3.0.co
https://doi.org/10.1002/(sici)1098-1004(1996)8:2<140::aid-humu6>3.0.co
Publikováno v:
Scopus-Elsevier
A family in which three siblings born to related parents all manifested clinical abnormalities characteristic of Fanconi's anaemia (microcephaly, short stature, slow growth, beak nose, micrognathia, skin dyspigmentation and forearm and thumb dysplasi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6b1144b738de6842f546c770b34a2d1
http://www.scopus.com/inward/record.url?eid=2-s2.0-0027393651&partnerID=MN8TOARS
http://www.scopus.com/inward/record.url?eid=2-s2.0-0027393651&partnerID=MN8TOARS