Zobrazeno 1 - 10 of 17 pro vyhledávání: '"B S, Sayli"'
2
Assessment of fertility and infertility in boron-exposed Turkish subpopulations: 3. Evaluation of fertility among sibs and in 'borate families'
Autor: B S, Sayli
Publikováno v: Biological trace element research. 81(3)
As a part of a work to reveal the health effects of boron and its compounds, fertility and infertility states of sibs of probands, contacted and interviewed in the field, and of their spouses were given. The purposes were to prevent duplications seem
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::de510fbf5f36e46c08d20f2e421119bd
https://pubmed.ncbi.nlm.nih.gov/11575682
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3
Bilateral abortive cryptophthalmos associated with oculocutaneous albinism
Autor: O O, Uçakhan, L, Atmaca, B S, Sayli, C, Sayar, E, Firat
Publikováno v: Acta ophthalmologica Scandinavica. 77(2)
To document a case of bilateral abortive cryptophthalmos associated with oculocutaneous albinism.We describe a 13-year-old female patient with blond skin and hair who had anomalous face and eyes first noted at birth.The patient had fair hair and comp
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c03ced895ccf31fdc7968e7ce0172701
https://pubmed.ncbi.nlm.nih.gov/10321549
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5
Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity
Autor: A Hossain, Magda Barsoum-Homsy, Line Chevrette, B S Sayli, Mansoor Sarfarazi, S G Aktan, M E Turacli, A N Akarsu
Publikováno v: Genomics. 30(2)
Primary congenital glaucoma (GLC3) is an inherited eye disorder that accounts for 0.01-0.04% of total blindness. Although a large number of chromosomal abnormalities have already been reported in patients with congenital glaucoma, the precise locatio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::606a4386278a47e15268170ff57dee10
https://pubmed.ncbi.nlm.nih.gov/8586416
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6
Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker
Autor: B S Sayli, Mansoor Sarfarazi, A N Akarsu
Publikováno v: Human molecular genetics. 4(8)
Syndactyly type II (SynPolyDactyly; SPD) is an autosomal dominant condition with incomplete penetrance and variable expressivity. Sixty-two meioses from a kindred with 425 individuals were used to map the SPD locus to 2q31 region, approximately 1.7 c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c9d06dbe4a09dec2c784281dfad4780
https://pubmed.ncbi.nlm.nih.gov/7581388
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7
A large Turkish kindred with syndactyly type II (synpolydactyly). 2. Homozygous phenotype?
Autor: A N Akarsu, G Baskaya, B S Sayli, U Sayli, Mansoor Sarfarazi, O Akhan
Syndactyly type II (synpolydactyly (SPD)) is an autosomal dominant condition with typical abnormalities of the distal parts of both upper and lower limbs. We report here a previously undescribed phenotypic feature of people with severe hand and foot
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::471826d68866e53796661f6e19f1f1ad
https://europepmc.org/articles/PMC1050482/
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8
IgA deficiency associated with growth hormone deficiency in a boy with short arm deletion of chromosome 18 (46,XY,18p-)
Autor: D, Gül, B S, Sayli, F, Gök, E, Gökçay
Publikováno v: Annales de genetique. 37(2)
The authors report a 10-year-old boy with the short arm deletion of chromosome 18 extending to centromere with no evidence of mosaicism. Associated were growth hormone and IgA deficiencies. It seems to be the second example appeared in medical litera
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::67cd050cc2ee8925f7d5de69d7fa7223
https://pubmed.ncbi.nlm.nih.gov/7527197
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9
Therapeutical and genetical aspects of congenital glaucomas
Autor: N Akarsu, M E Turacli, S G Aktan, B S Sayli
Publikováno v: International ophthalmology. 16(4-5)
Therapy for congenital glaucoma is primarily surgical. We have investigated 249 cases who have undergone trabeculectomy. There was a 79% success rate as regards to control of the IOP. Vision could be saved among the patients who had applied relativel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ade2116066f1a500788524f2ac0b2c9a
https://pubmed.ncbi.nlm.nih.gov/1428571
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10
Tetra-oligodactyly with bilateral aplasia and hypoplasia of long bones of upper and lower limbs: a variable manifestation of the syndrome of ectrodactyly with tibial aplasia
Autor: M. Unsal, M. Tigdemir, R. N. Sener, A. R. Ormeci, B. S. Sayli, U. E. Isikan
Publikováno v: Pediatric radiology. 21(1)
We resent, a family manifesting a variation of the syndrome of ectrodactyly with tibial aplasia. The principal case in the family showed the most severe bilateral skeletal malformations of this syndrome. The hand changes of this case (tetra-oligodact
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4ea04ce7be2c2d541f99fbcb8735c8a
https://pubmed.ncbi.nlm.nih.gov/2287543
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