Zobrazeno 1 - 10
of 16
pro vyhledávání: '"A N, Akarsu"'
Publikováno v:
Hematology, Transfusion and Cell Therapy, Vol 42, Iss , Pp 68-69 (2020)
Externí odkaz:
https://doaj.org/article/f1686bb1b5e84262b422435cc89dc47e
Publikováno v:
Hematology, Transfusion and Cell Therapy, Vol 42, Iss, Pp 68-69 (2020)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfcb90aab1d85c9304588d2609895670
http://www.sciencedirect.com/science/article/pii/S2531137920302534
http://www.sciencedirect.com/science/article/pii/S2531137920302534
Autor:
A. N. Akarsu, Bekir Sitki Sayli
Publikováno v:
Clinical Genetics. 40:342-344
An autosomal dominant dysplasia-malformation syndrome affecting seven individuals in one family is reported. The components of the syndrome include congenital nasopalpebral lipoma, telecanthus, and bilateral colobomas of upper and lower lids without
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ddd0e4a4063cd50fd75f411f87ef310
https://doi.org/10.1111/j.1399-0004.1991.tb03106.x
https://doi.org/10.1111/j.1399-0004.1991.tb03106.x
Publikováno v:
Human Molecular Genetics. 6:641-647
Primary congenital glaucoma (Buphthalmos) is an autosomal recessive eye disorder, postulated to result from developmental defects in the anterior eye segment. Previously, we reported two chromosomal locations for this condition on 2p21 (GLC3A) and 1p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8713091c319c7de5c55d47ecbcf47a60
https://doi.org/10.1093/hmg/6.4.641
https://doi.org/10.1093/hmg/6.4.641
Publikováno v:
Cornea. 20(1)
Purpose To identify the mutation in the keratoepithelin gene for proper diagnosis of granular corneal dystrophies. Methods Four generations of a single family with corneal dystrophy were analyzed. Fourteen family members were examined and 11 were fou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57d9c440cb1976d0c98265d68cc810b6
https://pubmed.ncbi.nlm.nih.gov/11189007
https://pubmed.ncbi.nlm.nih.gov/11189007
A Clinically Variant Fibrosis Syndrome In A Turkish Family Maps To The Cfeom1 Locus On Chromosome 12
Objectives To describe the phenotype of a Turkish family with variably expressed congenital fibrosis of the extraocular muscles (CFEOM), and to determine the genetic location of their disorder. Methods Participants were examined and had blood extract
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb4fec23a986c15e8ddf1a7f171b3ef0
http://hdl.handle.net/11655/14197
http://hdl.handle.net/11655/14197
Publikováno v:
Journal of hand surgery (Edinburgh, Scotland). 23(4)
This study examines one of the largest pedigrees with radial polydactyly type IV (uncomplicated polysyndactyly) comprising a total of 69 individuals, of whom 26 have been affected over six generations. Typical manifestations of the pedigree were bila
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::adb05d7a66516ceae8f11317766f278f
https://pubmed.ncbi.nlm.nih.gov/9726561
https://pubmed.ncbi.nlm.nih.gov/9726561
Autor:
M E Turacli, M Or, G Brice, Miguel Coca-Prados, S G Aktan, Line Chevrette, R A Lewis, Anne H. Child, Ivaylo Stoilov, I Alozie, A N Akarsu, Magda Barsoum-Homsy, Mansoor Sarfarazi, Nehir Özdemir
PubMedID: 9497261 We recently reported three truncating mutations of the cytochrome P4501B1 gene (CYP1B1) in five families with primary congenital glaucoma (PCG) linked to the GLC3A locus on chromosome 2p21. This could be the first direct evidence su
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f2db4b100f37152222081de0ec0e390
https://avesis.gazi.edu.tr/publication/details/9dbf4e30-6ee3-41a3-9035-c37d2b2d629f/oai
https://avesis.gazi.edu.tr/publication/details/9dbf4e30-6ee3-41a3-9035-c37d2b2d629f/oai
Publikováno v:
European Neuropsychopharmacology. 16:S211-S212
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::64a2fb4e13467db5a86e6e46ef1c364a
https://doi.org/10.1016/s0924-977x(06)70146-8
https://doi.org/10.1016/s0924-977x(06)70146-8
Publikováno v:
Journal of medical genetics. 34(7)
Familial Mediterranean fever (FMF) is an autosomal recessive condition that is almost entirely restricted to the non-Askhenazi Jews, Arabs, Armenians, and Turks. Genetic linkage study of a large group of non-Turkish families has previously mapped the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::172af614c2f25dcab7ea76cb4a8fa0e1
https://pubmed.ncbi.nlm.nih.gov/9222966
https://pubmed.ncbi.nlm.nih.gov/9222966