Zobrazeno 1 - 8
of 8
pro vyhledávání: '"J. G. A. M. Heister"'
Autor:
Luigi F. Bernini, A. J. G. A. M. Heister, Piero C. Giordano, M.J.R. van der Wielen, K. L. Harteveld, Monique Losekoot
Publikováno v:
Human Genetics. 100:465-471
In this article we describe the molecular characterization of 104 independent alpha-thalassemia patients identified by hematological analysis and family studies. During the study, another six chromosomes were identified with rearrangements of the alp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4db26eb87884552d5b9370c1fe56fd7c
https://doi.org/10.1007/s004390050535
https://doi.org/10.1007/s004390050535
Autor:
Monique Losekoot, Pierre W. Wijermans, H. L. Haak, C. L. Harteveld, Peter Van Delft, Luigi F. Bernini, D. Batelaan, Piero C. Giordano, J. G. A. M. Heister
Publikováno v:
British Journal of Haematology. 95:461-466
We report the characterization of an alpha +(-)thalassaemia determinant due to a transition A-->G of the acceptor splice consensus site sequence (IVS1-116) of the first intron of the alpha 2-globin gene. The mutation, found in two apparently unrelate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747a063bb1bf2bd3dd1cc1d31cd4a106
https://doi.org/10.1046/j.1365-2141.1996.d01-1926.x
https://doi.org/10.1046/j.1365-2141.1996.d01-1926.x
Autor:
Piero C. Giordano, C. L. Harteveld, Luigi F. Bernini, J. G. A. M. Heister, Monique Losekoot, H. L. Haak
Publikováno v:
British Journal of Haematology. 87:139-143
In a family of Indian origin we have identified a deletion of two bases at the polyadenylation signal sequence of the alpha 2-globin gene (AATAAA-->AATA). Three individuals heterozygous for this mutation display an alpha o-thalassaemia-like phenotype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d68093c41d585710596696bc3d56d1dd
https://doi.org/10.1111/j.1365-2141.1994.tb04883.x
https://doi.org/10.1111/j.1365-2141.1994.tb04883.x
Autor:
Piero C. Giordano, Reinout Amons, Jan C. Oosterwijk, J. G. A. M. Heister, H. Streng, Luigi F. Bernini, C. L. Harteveld
Publikováno v:
Hemoglobin. 18:11-18
We have characterized the structural abnormality of a new a chain mutant found in a Kurdish family. The clinical and hemato-logical investigation of eight individuals have shown that the a variant is associated with a β°-thalassemia mutation (nonse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1873fd1c700801079dee001bd87d75ca
https://doi.org/10.3109/03630269409014141
https://doi.org/10.3109/03630269409014141
Autor:
Ahmet Faruk Kiroglu, Hannie Kremer, Han G. Brunner, Refik Caylan, Ersan Kalay, T. Yasar, Rob W.J. Collin, Cor W. R. J. Cremers, J. G. A. M. Heister, Ahmet Karagüzel, Jaap Oostrik
Publikováno v:
Journal of Molecular Medicine-Jmm, 85, 397-404
Journal of Molecular Medicine-Jmm, 85, 4, pp. 397-404
Journal of Molecular Medicine-Jmm, 85, 4, pp. 397-404
Contains fulltext : 52196.pdf (Publisher’s version ) (Closed access) Hereditary hearing impairment is a genetically heterogeneous disorder. To date, 49 autosomal recessive nonsyndromic hearing impairment (ARNSHI) loci have been described, and there
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e1603190bae9007d1a8dfcea39ced65
http://hdl.handle.net/2066/52196
http://hdl.handle.net/2066/52196
Autor:
A.P.M. de Brouwer, Hannie Kremer, Ahmet Karagüzel, Sander B. Nabuurs, Bernd Wollnik, Frans P.M. Cremers, Han G. Brunner, Ersan Kalay, Refik Caylan, Cor W. R. J. Cremers, J. G. A. M. Heister, Hidayet Erdöl
Publikováno v:
Journal of Molecular Medicine-Jmm, 83, 12, pp. 1025-32
Journal of Molecular Medicine-Jmm, 83, 1025-32
Journal of Molecular Medicine-Jmm, 83, 1025-32
Item does not contain fulltext Homozygosity mapping and linkage analysis in a Turkish family with autosomal recessive prelingual sensorineural hearing loss revealed a 15-cM critical region at 17q25.1-25.3 flanked by the polymorphic markers D17S1807 a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82ca160091b0aaae05696e3d24b512dd
https://hdl.handle.net/2066/143559
https://hdl.handle.net/2066/143559
Autor:
Piero C. Giordano, C. L. Harteveld, Marrie C.A. Bruin, Luigi F. Bernini, J. G. A. M. Heister, Monique Losekoot, P. van Delft, D. Batelaan
Publikováno v:
British Journal of Haematology. 94:483-485
We describe a new alpha 2-globin gene point mutation found in six individuals of a three-generation Dutch family. The mutant, which is associated with a mild alpha-thalassaemic phenotype, is not detectable at the protein level. The alpha 2 cd129 (CTG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::74ea94dcc6d6780691ef0984731e961a
https://doi.org/10.1046/j.1365-2141.1996.d01-1828.x
https://doi.org/10.1046/j.1365-2141.1996.d01-1828.x
Autor:
C. G. F. de Kovel, Carel B. Hoyng, J G A M Heister, F.P.M. Cremers, August F. Deutman, A.I. den Hollander, Ferry F.J. Kersten, J. J. C. van Lith-Verhoeven
Publikováno v:
Journal of Medical Genetics, 41, 9, pp. 699-702
Journal of Medical Genetics, 41, 699-702
Journal of Medical Genetics, 41, 699-702
Butterfly shaped macular dystrophy was first described by Deutman et al. in 1970.1 It is characterised by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium. Lesions consist of 3–5 “wings,”
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b072b56bedf62ad71054a8161c19bf7
https://pubmed.ncbi.nlm.nih.gov/15342701
https://pubmed.ncbi.nlm.nih.gov/15342701