Zobrazeno 1 - 10 of 11 pro vyhledávání: '"K O Simola"'
1
Clinical features of nine males with molecularly defined deletions of the Y chromosome long arm
Autor: Jaakko Ignatius, P Salo, Esa Tahvanainen, H Kääriäinen, K O Simola
Publikováno v: Journal of Medical Genetics. 32:711-715
Deletions of the long arm of the Y chromosome have previously been associated with azoospermia and short stature. We report the results of a detailed clinical and molecular study of nine males with partial deletions of Yq. Special emphasis was laid o
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e19ebf8f9c9b6c88caf947f447e0022e
https://doi.org/10.1136/jmg.32.9.711
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2
Analysis of p53 tumor suppressor gene in families with multiple glioma patients
Autor: N, Paunu, K, Syrjäkoski, R, Sankila, K O, Simola, P, Helén, M, Niemelä, M, Matikainen, J, Isola, H, Haapasalo
Publikováno v: Journal of neuro-oncology. 55(3)
The high incidence of gliomas in Li-Fraumeni families and the high frequency of somatic p53 mutations in sporadic glial tumors have raised the possibility that germline p53 mutations could play an important role in familial aggregation of gliomas. In
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::fc0ff3f013c1080212e698f2e9258f52
https://pubmed.ncbi.nlm.nih.gov/11859970
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3
A de novo deletion of chromosome 15(q15.2q21.2) in a dysmorphic, mentally retarded child with congenital scalp defect
Autor: P A, Koivisto, H, Koivisto, K, Haapala, K O, Simola
Publikováno v: Clinical dysmorphology. 8(2)
We report a rare chromosomal finding in a boy with a pronounced scalp defect, dysmorphic features and mental retardation. Initially, what seemed to be a normal karyotype by conventional karyotyping was determined to be a de novo deletion involving 15
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ba7a5b909ef75b12f199c69f52f350c3
https://pubmed.ncbi.nlm.nih.gov/10319204
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4
Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1
Autor: A, Mustonen, H K, Ploos van Amstel, R, Berger, M K, Salo, L, Viinikka, K O, Simola
Publikováno v: Prenatal diagnosis. 17(10)
Hereditary tyrosinaemia type 1 is a rare but serious metabolic disorder with an autosomal recessive mode of inheritance. We describe the prenatal diagnosis of an affected fetus performed by DNA-mutation analysis and a subsequent pregnancy with a heal
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b9a5bb5347ef9f3cc98e3828880d17b6
https://pubmed.ncbi.nlm.nih.gov/9358577
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7
HRAS1-selected chromosome transfer generates markers that colocalize aniridia- and genitourinary dysplasia-associated translocation breakpoints and the Wilms tumor gene within band 11p13
Autor: Sheila Christie, J. M. Fletcher, David J. Porteous, P A Boyd, D Rout, Wendy A. Bickmore, K O Simola, John R. Gosden, G Cranston, Anne Seawright
Publikováno v: Proceedings of the National Academy of Sciences. 84:5355-5359
We show that chromosome-mediated gene transfer can provide an enriched source of DNA markers for predetermined, subchromosomal regions of the human genome. Forty-four human DNA recombinants isolated from a HRAS1-selected chromosome-mediated gene tran
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f15d27e40cfb193200317172b17742a4
https://doi.org/10.1073/pnas.84.15.5355
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9
Segregation and fertility analysis in an autosomal reciprocal translocation, t(1;8)(q41;q23.1)
Autor: A E, Vauhkonen, E M, Sankila, K O, Simola, A, de la Chapelle
Publikováno v: American journal of human genetics. 37(3)
We report a previously undescribed autosomal reciprocal translocation, t(1;8)(q41;q23.1). It segregates in three families whose common origin lies at least 11 generations back. No examples of unbalanced karyotypes were encountered. Moreover, there wa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3e7f64cdf4ae4699659b98354c70a566
https://pubmed.ncbi.nlm.nih.gov/4003397
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