Výsledky vyhledávání

Genetic variation in ICF syndrome: evidence for genetic heterogeneity

Autor: C, Wijmenga, R S, Hansen, G, Gimelli, E J, Björck, E G, Davies, D, Valentine, B H, Belohradsky, J J, van Dongen, D F, Smeets, L P, van den Heuvel, J A, Luyten, E, Strengman, C, Weemaes, P L, Pearson

Publikováno v: Human mutation. 16(6)

ICF syndrome is a rare autosomal recessive immunoglobulin deficiency, sometimes combined with defective cellular immunity. Other features that are frequently observed in ICF syndrome patients include facial dysmorphism, developmental delay, and recur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c3b537966b7d9ce467fa46279723a232
https://pubmed.ncbi.nlm.nih.gov/11102980

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Down syndrome in a population of elderly mentally retarded patients: genetic-diagnostic survey and implications for medical care

Autor: G J, Van Buggenhout, J C, Trommelen, A, Schoenmaker, C, De Bal, J J, Verbeek, D F, Smeets, H H, Ropers, K, Devriendt, B C, Hamel, J P, Fryns

Publikováno v: American journal of medical genetics. 85(4)

Ninety-six adults with Down syndrome (DS) from an institutional setting of 591 mentally retarded were investigated systematically with respect to cytogenetic diagnosis, mental functioning and dementia, ophthalmological and audiological abnormalities,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d8fe40432a4d710e53eda28a3228e8ea
https://pubmed.ncbi.nlm.nih.gov/10398264

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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)

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=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)

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=pmid________::5a580f964041d34c14edaf9dde9fc869
https://pubmed.ncbi.nlm.nih.gov/10398246

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Misinterpretation of trisomy 18 as a pseudomosaicism at third-trimester amniocentesis of a child with a mosaic 46,XY/47,XY, +3/48,XXY, +18 karyotype

Autor: C M, van Ravenswaaij-Arts, J H, Tuerlings, A F, Van Heyst, J G, Nijhuis, J, Niehof, D F, Smeets

Publikováno v: Prenatal diagnosis. 17(4)

False-negative trisomy 18 has been reported after chorionic villus sampling, but not after amniocentesis. We describe a double aneuploidy in cultured amniocytes that was initially misinterpreted as a pseudomosaicism. A patient was referred at 31 week

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4d3a5a61957625c5dce0837e4b4bb63a
https://pubmed.ncbi.nlm.nih.gov/9664615

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Nijmegen Breakage syndrome: a progress report

Autor: C M, Weemaes, D F, Smeets, C J, van der Burgt

Publikováno v: International journal of radiation biology. 66

We report the findings in the first 30 patients with the Nijmegen Breakage Syndrome (NBS). All had microcephaly from birth, short stature and a 'bird-like' face. Most of them suffered from recurrent respiratory tract infections. Intelligence was norm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::84c37796d0451321f3d21605ce3e48eb
https://pubmed.ncbi.nlm.nih.gov/7836846

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Variants of Nijmegen breakage syndrome and ataxia telangiectasia

Autor: C M, Weemaes, D F, Smeets, M, Horstink, A, Haraldsson, J A, Bakkeren

Publikováno v: Immunodeficiency. 4(1-4)

Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by telangiectasia, progressive ataxia, sinopulmonary infections and a combined immunodeficiency (usually consisting of IgA deficiency, IgE deficiency, IgG2 and IgG4 deficienc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::44b63cfe46120f9ffbb36957a0529a0f
https://pubmed.ncbi.nlm.nih.gov/7513225

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Immunological studies in Bloom's syndrome. A follow-up report

Autor: C M, Weemaes, J A, Bakkeren, A, Haraldsson, D F, Smeets

Publikováno v: Annales de genetique. 34(3-4)

Longitudinal immunological studies were performed in five patients with Bloom's syndrome. Serum IgG concentration showed no age-related increase. IgA levels were below the 10th percentile in childhood, but rose to normal in all but one. IgM was decre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::4ba381b857c6b671d27607937f5d3d97
https://pubmed.ncbi.nlm.nih.gov/1809227

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