Výsledky vyhledávání - "B, van den Helm"

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

Autor: J Schuil, Han G. Brunner, L. I. van den Born, F. N. Boonstra, B. Van Den Helm, F.P.M. Cremers, Hester Y. Kroes, Robert K. Koenekoop, Suzanne Yzer, M M van Genderen

Publikováno v: Journal of Medical Genetics, 40, 709-13
Journal of Medical Genetics, 40, 9, pp. 709-13

Autosomal recessive retinal dystrophies cause visual impairment in approximately 1 in 4000 individuals worldwide.1 The non-syndromic forms are highly heterogeneous and can be classified into clinical subgroups, the most frequent ones being retinitis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63e44608b47e3935bab1e43b4a8ab204
https://doi.org/10.1136/jmg.40.9.709

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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: 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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Localization of the gene (or genes] for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood

Autor: I.J. de Wijs, E.C.M. Mariman, B.C.J. Hamel, H.-H. Ropers, Erik A. Sistermans, H. Kremer, B. Van Den Helm, W.F.M. Arts

Publikováno v: Human Genetics, 98, 5, pp. 513-517
Human Genetics, 98, pp. 513-517
Human Genetics, 98, 513-517
Human Genetics, 98(5), 513-517. Springer Verlag
Kremer, H, Hamel, B C J, Van den Helm, B, Arts, W F M, De Wijs, I J, Sistermans, E A, Ropers, H H & Mariman, E C M 1996, ' Localization of the gene (or genes] for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood ', Human Genetics, vol. 98, no. 5, pp. 513-517 . https://doi.org/10.1007/s004390050250

Linkage analysis is described in a family with X-linked mental retardation, ataxia, weakness, floppiness, delayed motor development, absence of deep tendon reflexes, hearing impairment and loss of vision (MIM no. 301835). The disease has a fatal cour

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d52820ecff30b1ff7cb58e65c4d140a
http://www.scopus.com/inward/record.url?scp=0029809954&partnerID=8YFLogxK

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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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X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

Autor: L E, Siderius, B C, Hamel, H, van Bokhoven, F, de Jager, B, van den Helm, H, Kremer, J A, Heineman-de Boer, H H, Ropers, E C, Mariman

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

A family is described in which X-linked mild to borderline mental retardation (MR) is associated with cleft lip/palate. Linkage analysis showed a maximum LOD score of Z=2.78 at straight theta=0.0 for the DXS441 locus with flanking markers DXS337 and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::896d43448467923e82820b1f97fcccba
https://pubmed.ncbi.nlm.nih.gov/10398231

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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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A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28

Autor: B C, Hamel, H, Kremer, E, Wesby-van Swaay, B, van den Helm, A P, Smits, B A, Oostra, H H, Ropers, E C, Mariman

Publikováno v: American journal of medical genetics. 64(1)

We report on a family in which nonsyndromal mild to moderate mental retardation segregates as an X-linked trait (MRX41). Two point linkage analysis demonstrated linkage between the disorder and marker DXS3 in Xq21.33 with a lod score of 2.56 at theta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::223318bc2ae225c32abe328c09b827f7
https://pubmed.ncbi.nlm.nih.gov/8826463

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Familial X-linked mental retardation and isolated growth hormone deficiency: clinical and molecular findings

Autor: B C, Hamel, A P, Smits, B J, Otten, B, van den Helm, H H, Ropers, E C, Mariman

Publikováno v: American journal of medical genetics. 64(1)

We report on several members of a family with varying degrees of X-linked mental retardation (XLMR), isolated growth hormone deficiency (IGHD), and infantile behaviour but without other consistent phenotypic abnormalities. Male patients continued to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::acc68b2e758a5b9877d9b23097e19495
https://pubmed.ncbi.nlm.nih.gov/8826446

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