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Early diagnosis of multiple endocrine neoplasia type IIa (1989)

Neumann, H. P. H. ; Müller, O. A. ; Ponder, B. A. J. ; [et al.]

Springer

Journal of molecular medicine 67 (1989), S. 951-956

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ISSN: 1432-1440

Keywords: Multiple endocrine neoplasia type IIa ; Pheochromocytoma ; Medullary thyroid carcinoma ; Hyperparathyroidism ; Chromosome banding studies ; DNA linkage analysis

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Summary We report on incidental findings during family screening of two kindreds with multiple endocrine neoplasia type IIa. Pheochromocytoma and medullary thyroid carcinoma of considerable size were detected. The results underline the importance of early diagnosis of the syndrome, since the afflicted may be almost or wholly asymptomatic. High resolution chromosome banding studies were carried out in both families, but no abnormality was found. Linkage analysis using DNA markers closely related to the chromosomal locus at chromosome 10 was carried out and was positive in two asymptomatic offspring of one family, whereas the markers were not informative in a second family. We recommend early linkage analysis for establishing the genetic status in offspring of multiple endocrine neoplasia type IIa families to identify for further screening those who are predicted to be gene carrier.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF01721424

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Paternal origin of new mutations in Von Recklinghausen neurofibromatosis (1990)

Jadayel, D. ; Fain, P. ; Upadhyaya, M. ; [et al.]

[s.l.] : Nature Publishing Group

Nature 343 (1990), S. 558-559

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ISSN: 1476-4687

Source: Nature Archives 1869 - 2009

Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics

Notes: [Auszug] Fourteen three-generation families were identified in which a new mutation to NF-1 had occurred in a single individual in the second generation. DNA typing of these families for loci closely linked to NF-1 (results summarized in Table 1 and Fig. 1) showed that in 12 of the 14 cases, it was ...

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1038/343558a0

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A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10 (1987)

Mathew, C. G. P. ; Chin, K. S. ; Easton, D. F. ; [et al.]

[s.l.] : Nature Publishing Group

Nature 328 (1987), S. 527-528

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ISSN: 1476-4687

Source: Nature Archives 1869 - 2009

Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics

Notes: [Auszug] The use of DNA probes to detect linkage between a restriction fragment length polymorphism (RFLP) and a mutated locus has led to the successful mapping of inherited disorders such as Duchenne muscular dystrophy4, Huntington's chorea5, poly-cystic kidney disease6 and cystic fibrosis7'8. In view of ...

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1038/328527a0

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Deletion of genes on chromosome 1 in endocrine neoplasia (1987)

Mathew, C. G. P. ; Smith, B. A. ; Thorpe, K. ; [et al.]

[s.l.] : Nature Publishing Group

Nature 328 (1987), S. 524-526

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ISSN: 1476-4687

Source: Nature Archives 1869 - 2009

Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics

Notes: [Auszug] We chose to search for loss of heterozygosity by using a panel of locus-specific minisatellite probes10'11 isolated from a human genomic library using the minisatellite probes 33.15 and 33.6 (ref. 12). These locus-specific probes each detect multiple alleles with a high degree of heterozygosity, ...

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1038/328524a0

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