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Volumn 81, Issue 12, 1996, Pages 4204-4211

Autosomal dominant primary hyperparathyroidism and jaw tumor syndrome associated with renal hamartomas and cystic kidney disease: Linkage to 1q21- q32 and loss of the wild type allele in renal hamartomas

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 1Q; CHROMOSOME LOSS; FEMALE; GENETIC LINKAGE; HAMARTOMA; HUMAN; JAW TUMOR; KIDNEY DISEASE; KIDNEY POLYCYSTIC DISEASE; KIDNEY TUMOR; MAJOR CLINICAL STUDY; MALE; MULTIPLE ENDOCRINE NEOPLASIA; PEDIGREE ANALYSIS; PRIMARY HYPERPARATHYROIDISM; PRIORITY JOURNAL;

EID: 1842403802     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.81.12.4204     Document Type: Article
Times cited : (161)

References (21)
  • 2
    • 0025642521 scopus 로고
    • Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: A clinically and genetically distinct syndrome
    • Jackson CE, Norum RA, Boyd SB, et al. 1990 Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. Surgery. 108:1006-1013.
    • (1990) Surgery , vol.108 , pp. 1006-1013
    • Jackson, C.E.1    Norum, R.A.2    Boyd, S.B.3
  • 3
    • 0028958106 scopus 로고
    • Hereditary hyperparathyroidism-jaw-tumor syndrome: The endocrine-tumor gene HRPT2 maps to chromosome 1q21-q31
    • Szabo J, Heath B, Hill VM, et al. 1995 Hereditary hyperparathyroidism-jaw-tumor syndrome: the endocrine-tumor gene HRPT2 maps to chromosome 1q21-q31. Am J Hum Genet. 56:944-950.
    • (1995) Am J Hum Genet , vol.56 , pp. 944-950
    • Szabo, J.1    Heath, B.2    Hill, V.M.3
  • 5
    • 0027140277 scopus 로고
    • Familial isolated hyperparathyroidism: A distinct genetic entity with an increased risk of parathyroid cancer
    • Wassif W, Moniz CF, Friedman E, et al. 1993 Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer. J Clin Endocrinol Metab. 77:1485-1489.
    • (1993) J Clin Endocrinol Metab , vol.77 , pp. 1485-1489
    • Wassif, W.1    Moniz, C.F.2    Friedman, E.3
  • 7
    • 0028376125 scopus 로고
    • Familial hyperparathyroidism complicated with Wilm's tumour
    • Kakinuma A, Morimoto I, Nakano Y, et al. 1994 Familial hyperparathyroidism complicated with Wilm's tumour. Intern Med. 33:123-126.
    • (1994) Intern Med , vol.33 , pp. 123-126
    • Kakinuma, A.1    Morimoto, I.2    Nakano, Y.3
  • 9
    • 0029033627 scopus 로고    scopus 로고
    • Familial periodic cerebellar ataxia without myokimia maps to a 19-cM region on 19p13
    • Teh BT, Silburn P, Linblad K, et al. Familial periodic cerebellar ataxia without myokimia maps to a 19-cM region on 19p13. Am J Hum Genet. 56:1443-1449.
    • Am J Hum Genet , vol.56 , pp. 1443-1449
    • Teh, B.T.1    Silburn, P.2    Linblad, K.3
  • 10
    • 0028231090 scopus 로고
    • The 1993-1994 Généthon human genetic linkage map
    • Gyapay G, Morissette J, Vignal A, et al. 1994 The 1993-1994 Généthon human genetic linkage map. Nature Genetics. 7:246-339.
    • (1994) Nature Genetics , vol.7 , pp. 246-339
    • Gyapay, G.1    Morissette, J.2    Vignal, A.3
  • 11
    • 0028308673 scopus 로고    scopus 로고
    • Extraction of DNA from paraffin-embedded tissue for analysis by polymerase chain reaction: New tricks from an old friend
    • Shibata D. Extraction of DNA from paraffin-embedded tissue for analysis by polymerase chain reaction: new tricks from an old friend. Hum Pathol. 25:561-563.
    • Hum Pathol , vol.25 , pp. 561-563
    • Shibata, D.1
  • 12
    • 0025865768 scopus 로고
    • Loss of heterozygosity suggests multiple genetic alterations in pheochromocytomas and medullary thyroid carcinomas
    • Khosla S, Patel VM, Hay ID, et al. 1991 Loss of heterozygosity suggests multiple genetic alterations in pheochromocytomas and medullary thyroid carcinomas. J Clin Invest. 87:1691-1699.
    • (1991) J Clin Invest , vol.87 , pp. 1691-1699
    • Khosla, S.1    Patel, V.M.2    Hay, I.D.3
  • 14
    • 0002404623 scopus 로고
    • Follow-up of two hyperparathyroidism-jaw tumor syndrome families reported in 1971 and 1981 reveals that they are related and that parathyroid cancer is a part of the syndrome
    • Pidwirny GN, Szabo J, Hobbs M, Heath H, Jackson CE. 1995 Follow-up of two hyperparathyroidism-jaw tumor syndrome families reported in 1971 and 1981 reveals that they are related and that parathyroid cancer is a part of the syndrome. Am J Hum Genet. 57:A75.
    • (1995) Am J Hum Genet , vol.57
    • Pidwirny, G.N.1    Szabo, J.2    Hobbs, M.3    Heath, H.4    Jackson, C.E.5
  • 15
    • 0028087876 scopus 로고
    • Phenotypic diversity, allelic series and modifier genes
    • Romeo G, McKusick VA. 1994 Phenotypic diversity, allelic series and modifier genes. Nature Genetics. 7:451-453.
    • (1994) Nature Genetics , vol.7 , pp. 451-453
    • Romeo, G.1    McKusick, V.A.2
  • 16
    • 0028087876 scopus 로고
    • Phenotypic diversity, allelic series and modifier genes
    • Romeo G, McKusick VA. 1994 Phenotypic diversity, allelic series and modifier genes. Nature Genetics. 7:451-453.
    • (1994) Nature Genetics , vol.7 , pp. 451-453
    • Romeo, G.1    McKusick, V.A.2
  • 17
    • 0026394553 scopus 로고
    • The natural history of multiple endocrine neoplasia type 1: Highly uncommon or highly unrecognised?
    • Shepherd JJ. 1991 The natural history of multiple endocrine neoplasia type 1: highly uncommon or highly unrecognised? Arch Surg. 126:935-952.
    • (1991) Arch Surg , vol.126 , pp. 935-952
    • Shepherd, J.J.1
  • 18
    • 0028946265 scopus 로고
    • Monoclonality of parathyroid tumors in chronic renal failure and in primary parathyroid hyperplasia
    • Arnold A, Brown MF, Urena P, Gaz RD, Sarfati E, Drüeke. 1995 Monoclonality of parathyroid tumors in chronic renal failure and in primary parathyroid hyperplasia. J Clin Invest. 95:2047-2053.
    • (1995) J Clin Invest , vol.95 , pp. 2047-2053
    • Arnold, A.1    Brown, M.F.2    Urena, P.3    Gaz, R.D.4    Sarfati, E.5    Drüeke6
  • 19
    • 0029042394 scopus 로고
    • Autosomal dominant polycystic kidney disease: Evidence for the existence of a third locus in a Portuguese family
    • de Almeida S, de Almeida E, Peter E, et al. 1995 Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family. Am J Hum Genet. 96:83-88.
    • (1995) Am J Hum Genet , vol.96 , pp. 83-88
    • De Almeida, S.1    De Almeida, E.2    Peter, E.3
  • 20
    • 0029000629 scopus 로고
    • Genetic basis of endocrine disease: Multiple endocrine neoplasia type 2
    • Mulligan LM, Ponder BAJ. 1995 Genetic basis of endocrine disease: multiple endocrine neoplasia type 2. J Clin Endocrinol Metab. 80:1989-2068.
    • (1995) J Clin Endocrinol Metab , vol.80 , pp. 1989-2068
    • Mulligan, L.M.1    Ponder, B.A.J.2
  • 21
    • 0015043748 scopus 로고
    • Mutation and cancer: Statistical study of retinoblastoma
    • Knudson AG. 1971 Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA. 68:820-823.
    • (1971) Proc Natl Acad Sci USA , vol.68 , pp. 820-823
    • Knudson, A.G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.