Výsledky vyhledávání - "H. Meijers-Heijboer"

Reproductive behavior of individuals with increased risk of having a child with retinoblastoma

Autor: JD Van Dijk, Annette C. Moll, Saskia M. Imhof, Lidewij Henneman, MM Garvelink, Charlotte J. Dommering, H Meijers-Heijboer

Publikováno v: Clinical genetics, 81(3), 216-223. Wiley-Blackwell
Dommering, C J, Garvelink, M M, Moll, A C, van Dijk, J, Imhof, S, Meijers-Heijboer, E J & Henneman, L 2012, ' Reproductive behavior of individuals with increased risk of having a child with retinoblastoma ', Clinical Genetics, vol. 81, no. 3, pp. 216-223 . https://doi.org/10.1111/j.1399-0004.2011.01791.x
Clinical Genetics, 81(3), 216-223. Wiley-Blackwell

Dommering CJ, Garvelink MM, Moll AC, van Dijk J, Imhof SM, Meijers-Heijboer H, Henneman L. Reproductive behavior of individuals with increased risk of having a child with retinoblastoma. To investigate reproductive behavior of individuals at increase

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae9e09b746cc45efadf35d3a2e76d88a
https://doi.org/10.1111/j.1399-0004.2011.01791.x

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Reproductive decision-making: a qualitative study among couples at increased risk of having a child with retinoblastoma

Autor: Charlotte J. Dommering, Annette C. Moll, M R van den Heuvel, H Meijers-Heijboer, Saskia M. Imhof, Lidewij Henneman

Publikováno v: Clinical genetics, 78(4), 334-341. Wiley-Blackwell
Dommering, C J, van den Heuvel, M R, Acmoll, A C, Imhof, S M, Meijers-Heijboer, E J & Henneman, L 2010, ' Reproductive decision-making: a qualitative study among couples at increased risk of having a child with retinoblastoma ', Clinical Genetics, vol. 78, no. 4, pp. 334-341 . https://doi.org/10.1111/j.1399-0004.2010.01484.x
Clinical Genetics, 78(4), 334-341. Wiley-Blackwell

Little is known about the reproductive decision-making process of couples with an increased risk of having a child with retinoblastoma (Rb). A qualitative study was conducted to explore the impact of prospective risk on reproductive decisions, factor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8926d3913285e6c7599a0b0c694f3f23
https://doi.org/10.1111/j.1399-0004.2010.01484.x

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Akademický článek

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Rapid detection of BRCA1 mutations by the protein truncation test

Autor: M. Bout, Fbl Hogervorst, Peter Devilee, Bert Bakker, Jan C. Oosterwijk, Renske Olmer, H Meijers Heijboer, Jgm Klijn, J.T. den Dunnen, H. F. A. Vasen, Gjb van Ommen, Fred H. Menko, Cees J. Cornelisse, R.S. Cornelis, M. van Vliet

Publikováno v: Nature Genetics, 10(2), 208-212. Nature Publishing Group
ResearcherID
Nature genetics, 10(2), 208-212. Nature Publishing Group

textabstractMore than 75% of the reported mutations in the hereditary breast and ovarian cancer gene, BRCA1, result in truncated proteins. We have used the protein truncation test (PIT) to screen for mutations in exon 11, which encodes 61 % of BRCA1.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6e7f5b95815c8739608115e08a2033b
https://doi.org/10.1038/ng0695-208

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Age at diagnosis as an indicator of eligibility for BRCA1 DNA testing in familial breast cancer

Autor: R. S. Cornells, H. F. A. Vasen, H. Meijers-Heijboer, D. Ford, M. van Vliet, A. A. G. van Tilborg, F. J. Cleton, J. G. M. Klijn, F. H. Menko, P. Meera Khan, C. J. Cornelisse, P. Devilee

Publikováno v: Human genetics, 95(5), 539-544. Springer Verlag

We searched for criteria that could indicate breast cancer families with a high prior probability of being caused by the breast/ovarian cancer susceptibility locus BRCA1 on chromosome 17. To this end, we performed a linkage study with 59 consecutivel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9465a579d9a88d8765c794dbafd39841
https://doi.org/10.1007/bf00223866

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'A low risk is still a risk': Exploring women's attitudes towards genetic testing for breast cancer susceptibility in order to target disease prevention

Autor: Martina C. Cornel, C.M. Bouwman, Lidewij Henneman, Danielle R.M. Timmermans, H. Meijers-Heijboer

Publikováno v: Henneman, L, Timmermans, D R M, Bouwman, C M, Cornel, M C & Meijers-Heijboer, E J 2011, ' 'A low risk is still a risk': Exploring women's attitudes towards genetic testing for breast cancer susceptibility in order to target disease prevention ', Public Health Genomics, vol. 14, no. 4-5, pp. 238-247 . https://doi.org/10.1159/000276543
Public health genomics, 14(4-5), 238-247. S. Karger AG
Public Health Genomics, 14(4-5), 238-247. S. Karger AG

Background: Population breast cancer screening programs by mammography are offered to women based on age. It has been suggested that a screening program based on genetic risk profile could be more effective by targeting interventions at those at high

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::906e964a9d861e54e1962b76719fb829
https://research.vumc.nl/en/publications/0dbd5f4d-92f2-41ac-a53d-89308e1dc45c

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Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype

Autor: J.I.L.M. Verbeke, Stephen P. Robertson, David Markie, Mirjam H.H. van Roij, Kazuyuki Sugahara, M.B. Tan-Sindhunata, Timothy R. Morgan, H. Meijers-Heijboer, Shuhei Yamada, Shuji Mizumoto

Publikováno v: American Journal of Medical Genetics Part A, 146A(18), 2376-2384. Wiley-Liss Inc.
American journal of medical genetics. Part A, 146A(18), 2376-2384. Wiley-Liss Inc.
van Roij, M H H, Mizumoto, S, Yamada, S, Morgan, T, Tan-Sindhunata, M B, Meijers-Heijboer, E J, Verbeke, J I L M, Markie, D, Sugahara, K & Robertson, S P 2008, ' Spondyloepiphyseal dysplasia, Omani type: Further definition of the phenotype ', American Journal of Medical Genetics Part A, vol. 146A, no. 18, pp. 2376-2384 . https://doi.org/10.1002/ajmg.a.32482

Spondyloepiphyseal dysplasia (SED), Omani type (OMIM 608637) is a recessively inherited skeletal dysplasia previously described in two distantly related families from the Republic of Oman. The phenotype consists of short stature, severe kyphoscoliosi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53e934648df8eeb15b881965dca8d8aa
https://research.vumc.nl/en/publications/838cf17b-a062-4344-a449-0797ec0a369b

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Akademický článek

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Akademický článek

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Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis

Autor: B. G. Taal, P M Khan, J. T. Wijnen, Marie Luise Bisgaard, Gerrit Griffioen, L. Varesco, Lucio Bertario, Riccardo Fodde, Hans F. A. Vasen, J. Mohr, Fokko M. Nagengast, E. H. Meijers-Heijboer, Fred H. Menko, Jan H. Kleibeuker

Publikováno v: Gastroenterology, 110(4), 1020-1027. W B SAUNDERS CO-ELSEVIER INC
Gastroenterology, 110(4), 1020-1027. W.B. Saunders Ltd

BACKGROUND & AIMS: Hereditary nonpolyposis colorectal cancer is characterized by early-onset colorectal cancer and the occurrence of various other cancers. The recent isolation of four mismatch repair genes responsible for hereditary nonpolyposis col

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44422a8e97661f143f27e00707f9d18b
https://pubmed.ncbi.nlm.nih.gov/8612988

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