Výsledky vyhledávání - "T, van Roosmalen"

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

Autor: G.H.J. Thoonen, T. Van Roosmalen, Dominique Smeets, B. Van Den Helm, Edwin C. M. Mariman, Hannie Kremer, C. F. C. H. Assman-Hulsmans, Nine V A M Knoers, Arie P. T. Smits, B.C.J. Hamel, H.H. Ropers

Publikováno v: American Journal of Medical Genetics. 85:290-304

Four families are described in which mental retardation segregates in an X-linked fashion. Mental retardation was the only consistent clinical finding in all affected males. The degree of retardation varied from mild to profound both between and with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f569628cac8e0662fa08390381728978
https://doi.org/10.1002/(sici)1096-8628(19990730)85:3<290::aid-ajmg21>3.0.co

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X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region

Autor: Hannie Kremer, H.H. Ropers, Nine V A M Knoers, I. van der Burgt, Dominique Smeets, B.C.J. Hamel, Helger G. Yntema, Edwin C. M. Mariman, H Van Bokhoven, T. Van Roosmalen, B. Van Den Helm, Arie P. T. Smits

Publikováno v: American Journal of Medical Genetics. 85:305-308

We report linkage analysis in a new family with nonspecific X-linked mental retardation, using 27 polymorphic markers covering the entire X-chromosome. We could assign the underlying disease gene, denoted MRX65, to the pericentromeric region, with fl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38c54d7135f42aa020009bc6518dc85c
https://doi.org/10.1002/(sici)1096-8628(19990730)85:3<305::aid-ajmg22>3.0.co

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X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region

Autor: H G, Yntema, B, van den Helm, N V, Knoers, A P, Smits, T, van Roosmalen, D F, Smeets, E C, Mariman, I, van der Burgt, H, van Bokhoven, H H, Ropers, H, Kremer, B C, Hamel

Publikováno v: American journal of medical genetics. 85(3)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f2a5357914d635fea24d41b66513e36d
https://pubmed.ncbi.nlm.nih.gov/10398247

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Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis

Autor: B C, Hamel, A P, Smits, B, van den Helm, D F, Smeets, N V, Knoers, T, van Roosmalen, G H, Thoonen, C F, Assman-Hulsmans, H H, Ropers, E C, Mariman, H, Kremer

Publikováno v: American journal of medical genetics. 85(3)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5a580f964041d34c14edaf9dde9fc869
https://pubmed.ncbi.nlm.nih.gov/10398246

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Psychometric assessment of families with X-linked mental retardation

Autor: T, van Roosmalen, A P, Smits, G H, Thoonen, B C, Hamel, C F, Assman-Hulmans, F J, Gabreels

Publikováno v: American journal of medical genetics. 83(4)

As part of an integrated approach to DNA-linkage analysis in X-linked mental retardation (XLMR), 29 members of five families suspected of having XLMR underwent psychometric assessment. Mental retardation was confirmed in all participants. The range o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::50659336c3b827637b96be6cf6c745be
https://pubmed.ncbi.nlm.nih.gov/10208159

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Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26

Autor: Arie P. T. Smits, Dominique Smeets, H Van Bokhoven, B.C.J. Hamel, Hubertus P. H. Kremer, B. Van Den Helm, H.H. Ropers, T. Van Roosmalen, Helger G. Yntema

Publikováno v: Journal of Medical Genetics, 35, 10, pp. 801-805
Journal of Medical Genetics, 35, 801-805

We report linkage data on a new large family with non-specific X linked mental retardation (MRX), using 24 polymorphic markers covering the entire X chromosome. We could assign the underlying disease gene, denoted MRX46, to the Xq25-q26 region. MRX46

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63c1901fa8c7bc462b754d5830136701
https://hdl.handle.net/2066/166811

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