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1

Electronic Resource

A physical map and candidate genes in the BRCA1 region on chromosome 17q12–21 (1994)

Albertsen, H.M. ; Smith, S. A. ; Mazoyer, S. ; [et al.]

[s.l.] : Nature Publishing Group

Nature genetics 7 (1994), S. 472-479

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ISSN: 1546-1718

Source: Nature Archives 1869 - 2009

Topics: Biology , Medicine

Notes: [Auszug] We have constructed a physical map of a 4 cM region on chromosome 17q12–21 that contains the hereditary breast and ovarian cancer gene BRCA1. The map comprises a contig of 137 overlapping yeast artificial chromosomes and P1 clones, onto which we have placed 112 PCR markers. We have localized ...

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1038/ng0894-472

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2

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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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3

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Derivation of mouse intestinal crypts from single progenitor cells (1985)

Ponder, B. A. J. ; Schmidt, G. H. ; Wilkinson, M. M. ; [et al.]

[s.l.] : Nature Publishing Group

Nature 313 (1985), S. 689-691

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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] Mouse embryo aggregation chimaeras were prepared at the MRC Laboratories, Carshalton, as described previously4. The mosaic cell populations in the intestinal epithelium of the chimaeras were demonstrated using H-2 antigens4,5 and a carbohydrate polymorphism recognized by Dolichos biflorus ...

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1038/313689a0

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4

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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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5

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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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6

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A clonal marker induced by mutation in mouse intestinal epithelium (1988)

Winton, D. J. ; Blount, M. A. ; Ponder, B. A. J.

[s.l.] : Nature Publishing Group

Nature 333 (1988), S. 463-466

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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] Previous analysis of the cellular mosaicism in embryo aggrega-tion chimaeras5'7 have shown that their use in cell lineage studies is limited by the marking of the mosaic cell population from the earliest stages of embryonic development. As a result, in adult epithelia, the patch size of the mosaic ...

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1038/333463a0

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7

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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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8

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Phase II study of VP 16-213 (etoposide) in metastatic transitional cell urothelial cancer (1984)

Ponder, B. A. J. ; Oliver, R. T. D.

Springer

Cancer chemotherapy and pharmacology 12 (1984), S. 64-65

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ISSN: 1432-0843

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Summary Fifteen patients with measurable metastatic transitional cell bladder cancer were treated with VP 16-213 100 mg/m2 IV daily for 4 days, repeated every 3 weeks. There were no complete or partial (greater than 50% reduction in area, maintained for 6 weeks) responses. Two patients showed transient reduction by 50% in the area of measurable lesions, and a further five patients showed brief stabilisation of previously progressive disease. The treatment was well tolerated. In two patients, total WBC at the nadir fell below 1.0×109/l but without complications from infection. We conclude that VP 16-213 is inactive in metastatic transitional cell urothelial cancer.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00255913

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9

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Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay (1998)

Upadhyaya, M. ; Ruggieri, M. ; Maynard, J. ; [et al.]

Springer

Human genetics 〈Berlin〉 102 (1998), S. 591-597

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ISSN: 1432-1203

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Abstract Mutation screening in neurofibromatosis type 1 (NF1) families has long been hampered by the complexity of the NF1 gene. By using a novel multi-track screening strategy, 67 NF1 families (54 two-generation, 13 three-generation) with a de novo mutation in the germline of the first generation were studied with two extragenic and 11 intragenic markers. The pathological lesion was identified in 31 cases. Loss of heterozygosity (LOH) in the affected individual revealed a gross gene deletion in 15 of the two-generation families; in 12 (80%) of them, the deletion was maternally derived. Eleven patients with a gross deletion exhibited developmental delay, ten had dysmorphic features and six manifested a learning disability. No gross deletion was apparent in any of the 13 three-generation families, suggesting that such lesions are subject to more intense selection. In these families, the new mutation was of paternal origin in 11 kindreds and the underlying mutational event could be characterised in three of them.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/s004390050746

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10

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A multiple interval physical map of the pericentromeric region of human chromosome 10 (1994)

Tunnacliffe, A. ; Jackson, M. S. ; Gardner, E. ; [et al.]

Springer

Human genetics 〈Berlin〉 93 (1994), S. 313-318

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ISSN: 1432-1203

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Abstract Five intervals in the pericentromeric region of human chromosome 10 have been defined using a panel of somatic cell hybrids carrying portions of the chromosome. The map positions of twelve markers, consisting of four genes and eight anonymous DNA segments, have been localized by assignment to one of the five intervals. Several other markers could be placed in specific intervals by genetic linkage to assigned loci. When previously published data are incorporated, the summary map of the pericentromeric region encompasses thirty-two loci in bands 10p11.2-q11.2.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00212029

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