6 Result(s)

Article

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

Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominantly inherited cancer syndrome characterized by medullary carcinoma of the thyroid, phaeochromocytoma and hyperparathyroidism. Almost all gen...

C. G. P. Mathew, K. S. Chin, D. F. Easton, K. Thorpe, C. Carter, G. I. Liou… in Nature (1987)

Article

Deletion of genes on chromosome 1 in endocrine neoplasia

Recent studies have identified normal cellular DNA sequences which are lost in the development of embryonal^1–6 and adult^7,8 tumours. These tumours are thought to arise after a primary mutation in one allele of s...

C. G. P. Mathew, B. A. Smith, K. Thorpe, Z. Wong, N. J. Royle, A. J. Jeffreys… in Nature (1987)

Article

Early diagnosis of multiple endocrine neoplasia type IIa

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 res...

H. P. H. Neumann, O. A. Müller, B. A. J. Ponder, C. G. P. Mathew… in Klinische Wochenschrift (1989)

Article

Paternal origin of new mutations in Von Recklinghausen neurofibromatosis

VON Recklinghausen neurofibromatosis (NF-1)^1–4 is a common autosomal dominant disorder. The estimated new mutation rate (1 x 10⁻⁴) is one of the highest for a human disorder¹. Here we report that in 12 of 14 fam...

D. Jadayel, P. Fain, M. Upadhyaya, M. A. Ponder, S. M. Huson, J. Carey, A. Fryer… in Nature (1990)

Article

Abstracts of poster presentations

A. B. Agostinho, F. Rosi, A. Tabucchi, F. Carlucci… in Pharmacy World and Science (1993)