Výsledky vyhledávání - "J M, Hoovers"

Interstitial deletion of the long arm of chromosome 2: a clinically recognizable microdeletion syndrome?

Autor: J M Hoovers, Raoul C.M. Hennekam, S M Maas, M E van Seggelen, D M Menzel

Publikováno v: Clinical dysmorphology, 9(1), 47-53. Lippincott Williams and Wilkins

We report on a boy with an interstitial deletion of the long arm of chromosome 2 with breakpoints in chromosome bands q23 and q24.3. Main features were low-set and malformed ears, digital anomalies and congenital heart defects, which have also been r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d461a9abf8883a47b74039ea647bbbe
https://doi.org/10.1097/00019605-200009010-00010

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Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene

Autor: J. P. N. Ruiter, J M Hoovers, Lodewijk IJlst, R. J. A. Wanders, M E Jakobs

Publikováno v: Journal of clinical investigation, 98(4), 1028-1033. The American Society for Clinical Investigation

Mitochondrial trifunctional protein (MTP) is a recently identified enzyme involved in mitochondrial beta-oxidation, harboring long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and long-chain 3-ketothiolase activity. A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed2e6f214d41f088e5f89f43fde6f882
https://doi.org/10.1172/jci118863

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Genetic analysis of fetal nucleated red blood cells from CVS washings

Autor: M E, Jakobs, J M, van Lith, I M, de Graaf, A C, Knegt, J M, Hoovers

Publikováno v: Prenatal diagnosis. 20(10)

Chorionic villus sampling (CVS) is an established invasive prenatal diagnostic method for the detection of fetal chromosome aberrations. In 1-2% the karyotype result of CVS is inconclusive and follow-up confirmation will be required. To avoid another

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ea4f1ee936589c1eeb9ccb72113f9f0a
https://pubmed.ncbi.nlm.nih.gov/11038464

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[Fluorescence in situ hybridization in the study of chromosomal abnormalities]

Autor: J M, Hoovers, C H, Mellink, N J, Leschot

Publikováno v: Nederlands tijdschrift voor geneeskunde. 143(45)

Classical cytogenetics has a low resolving power and allows analysis of dividing cells only. In fluorescence in situ hybridization (FISH), a DNA fragment is stained with a fluorescent marker, after which this fragment is brought into contact with a p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ae5297af5eb744fcc33a478130e3bb13
https://pubmed.ncbi.nlm.nih.gov/10578427

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A patient with a de novo t (6;9) and an interstitial duplication of (9)(q21.2q22.1)

Autor: M F, Mohrschladt, E K, Bijlsma, S, Sluijter, R F, De Coo, J M, Hoovers, N J, Leschot

Publikováno v: Clinical dysmorphology. 8(3)

We report on a 4-year-old child with psychomotor retardation, general hypotonia and only mild dysmorphic features. Her chromosome constitution was 46,XX, t (6;9) (q27;q22.1), dup (9) (q21.2q22.1). This de novo interstitial duplication was confirmed u

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d1e0f3aa1420be62248fde1c69d6981e
https://pubmed.ncbi.nlm.nih.gov/10457857

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Enrichment, identification and analysis of fetal cells from maternal blood: evaluation of a prenatal diagnosis system

Autor: I M, de Graaf, M E, Jakobs, N J, Leschot, I, Ravkin, S, Goldbard, J M, Hoovers

Publikováno v: Prenatal diagnosis. 19(7)

In this study we evaluated the performance of a system for the enrichment, identification and analysis of fetal cells in maternal peripheral blood. Blood samples were collected from women after chorionic villus sampling and enriched for the presence

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7df722f137278fb7ee325254bf1163fb
https://pubmed.ncbi.nlm.nih.gov/10419613

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First-trimester non-invasive prenatal diagnosis of triploidy

Autor: I M, de Graaf, S M, van Bezouw, M E, Jakobs, N J, Leschot, H A, Zondervan, C M, Bilardo, J M, Hoovers

Publikováno v: Prenatal diagnosis. 19(2)

We report a case of fetal triploidy in which fetal nucleated red blood cells were isolated from the maternal peripheral circulation at 12 weeks' gestation. FISH analysis with X and Y specific probes revealed three hybridization signals for the X chro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b19b8110d79adb11af03585bc9a9c8ba
https://pubmed.ncbi.nlm.nih.gov/10215078

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Repeated unbalanced offspring due to a familial translocation involving chromosomes 5 and 6

Autor: S E, Groen, J G, Drewes, E G, de Boer, J M, Hoovers, R C, Hennekam

Publikováno v: American journal of medical genetics. 80(5)

We identified 10 members of a single family with mental retardation and microcephaly, one member having macrocephaly instead. The pedigree was best compatible with the segregation of a small translocation, despite results of previous cytogenetic stud

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c3cfe446e96679dde5000fbfdfa2eab9
https://pubmed.ncbi.nlm.nih.gov/9880207

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