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Volumn 98, Issue 2, 2013, Pages 1766-

Erratum: Frequent large germline HRPT2 deletions in a French National Cohort of patients with primary hyperparathyroidism (J Clin Endocrinol Metab (2013) 98 (E403-E408) DOI:10.1210/jc.2012-2789);Frequent large germline HRPT2 deletions in a french national cohort of patients with primary hyperparathyroidism

(17)  Bricaire, Léopoldine a,b   Odou, Marie Françoise c,d   Cardot Bauters, Catherine c   Delemer, Brigitte e   North, Marie Odile f   Salenave, Sylvie i   Vezzosi, Delphine h   Kuhn, Jean Marc j   Murat, Arnaud k   Caron, Philippe h   Sadoul, Jean Louis o   Silve, Caroline i,p   Chanson, Philippe i,l   Barlier, Anne m,n   Clauser, Eric f,r   Porchet, Nicole c,d,q   Groussin, Lionel f,g,r,s  


Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 84873636808     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2013-1580     Document Type: Erratum
Times cited : (101)

References (27)
  • 1
    • 67649877960 scopus 로고    scopus 로고
    • Hyperparathyroidism
    • Fraser WD. Hyperparathyroidism. Lancet. 2009;374(9684):145-158.
    • (2009) Lancet , vol.374 , Issue.9684 , pp. 145-158
    • Fraser, W.D.1
  • 3
    • 59749098240 scopus 로고    scopus 로고
    • Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes
    • Marsh DJ, Hahn MA, Howell VM, Gill AJ. Molecular diagnosis of primary hyperparathyroidism in familial cancer syndromes. Expert Opin Med Diagn. 2007;1(3):377-392.
    • (2007) Expert Opin Med Diagn. , vol.1 , Issue.3 , pp. 377-392
    • Marsh, D.J.1    Hahn, M.A.2    Howell, V.M.3    Gill, A.J.4
  • 4
    • 0034700450 scopus 로고    scopus 로고
    • Hyperparathyroid and hypoparathyroid disorders
    • Marx SJ. Hyperparathyroid and hypoparathyroid disorders. NEngl J Med. 2000;343(25):1863-1875.
    • (2000) NEngl J Med. , vol.343 , Issue.25 , pp. 1863-1875
    • Marx, S.J.1
  • 5
    • 70350029364 scopus 로고    scopus 로고
    • Molecular genetics of parathyroid disease
    • Westin G, Bjö rklund P, Akerström G. Molecular genetics of parathyroid disease. World J Surg. 2009;33(11):2224-2233.
    • (2009) World J Surg. , vol.33 , Issue.11 , pp. 2224-2233
    • Westin, G.1    Björklund, P.2    Akerström, G.3
  • 6
    • 0025642521 scopus 로고
    • Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: A clinically and genetically distinct syndrome
    • discussion 1012-1013
    • Jackson CE, Norum RA, Boyd SB, et al. Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. Surgery. 1990;108(6):1006-1012; discussion 1012-1013.
    • (1990) Surgery. , vol.108 , Issue.6 , pp. 1006-1012
    • Jackson, C.E.1    Norum, R.A.2    Boyd, S.B.3
  • 7
    • 0005470070 scopus 로고    scopus 로고
    • Genetic studies of a family with hereditary hyperparathyroidism-jaw tumour syndrome
    • Wassif WS, Farnebo F, Teh BT, et al. Genetic studies of a family with hereditary hyperparathyroidism-jaw tumour syndrome. Clin Endocrinol (Oxf). 1999;50(2):191-196.
    • (1999) Clin Endocrinol (Oxf). , vol.50 , Issue.2 , pp. 191-196
    • Wassif, W.S.1    Farnebo, F.2    Teh, B.T.3
  • 8
    • 18744385803 scopus 로고    scopus 로고
    • HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome
    • Carpten JD, Robbins CM, Villablanca A, et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet. 2002;32(4):676-680.
    • (2002) Nat Genet. , vol.32 , Issue.4 , pp. 676-680
    • Carpten, J.D.1    Robbins, C.M.2    Villablanca, A.3
  • 9
    • 36549013099 scopus 로고    scopus 로고
    • Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism
    • discussion 984-991
    • Iacobone M, Barzon L, Porzionato A, et al. Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism. Surgery. 2007;142(6):984-991; discussion 984-991.
    • (2007) Surgery. , vol.142 , Issue.6 , pp. 984-991
    • Iacobone, M.1    Barzon, L.2    Porzionato, A.3
  • 10
    • 19944434120 scopus 로고    scopus 로고
    • Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome
    • Bradley KJ, Hobbs MR, Buley ID, et al. Uterine tumours are a phenotypic manifestation of the hyperparathyroidism-jaw tumour syndrome. J Intern Med. 2005;257(1):18-26.
    • (2005) J Intern Med. , vol.257 , Issue.1 , pp. 18-26
    • Bradley, K.J.1    Hobbs, M.R.2    Buley, I.D.3
  • 11
    • 1842403802 scopus 로고    scopus 로고
    • 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
    • Teh BT, Farnebo F, Kristoffersson U, et al. 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. J Clin Endocrinol Metab. 1996;81(12):4204-4211.
    • (1996) J Clin Endocrinol Metab. , vol.81 , Issue.12 , pp. 4204-4211
    • Teh, B.T.1    Farnebo, F.2    Kristoffersson, U.3
  • 12
    • 77149133985 scopus 로고    scopus 로고
    • Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors
    • Newey PJ, Bowl MR, Cranston T, Thakker RV. Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. Hum Mutat. 2010;31(3):295-307.
    • (2010) Hum Mutat. , vol.31 , Issue.3 , pp. 295-307
    • Newey, P.J.1    Bowl, M.R.2    Cranston, T.3    Thakker, R.V.4
  • 13
    • 11844269891 scopus 로고    scopus 로고
    • The parafibromin tumor suppressor protein is part of a human Paf1 complex
    • Rozenblatt-Rosen O, Hughes CM, Nannepaga SJ, et al. The parafibromin tumor suppressor protein is part of a human Paf1 complex. Mol Cell Biol. 2005;25(2):612-620.
    • (2005) Mol Cell Biol. , vol.25 , Issue.2 , pp. 612-620
    • Rozenblatt-Rosen, O.1    Hughes, C.M.2    Nannepaga, S.J.3
  • 14
    • 33646555522 scopus 로고    scopus 로고
    • Parafibromin/Hyrax activates Wnt/Wg target gene transcription by direct association with β-catenin/Armadillo
    • Mosimann C, Hausmann G, Basler K. Parafibromin/Hyrax activates Wnt/Wg target gene transcription by direct association with β-catenin/Armadillo. Cell. 2006;125(2):327-341.
    • (2006) Cell. , vol.125 , Issue.2 , pp. 327-341
    • Mosimann, C.1    Hausmann, G.2    Basler, K.3
  • 15
    • 33644937809 scopus 로고    scopus 로고
    • Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism
    • Bradley KJ, Cavaco BM, Bowl MR, Harding B, Young A, Thakker RV. Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism. J Med Genet. 2005;42(8):e51.
    • (2005) J Med Genet. , vol.42 , Issue.8
    • Bradley, K.J.1    Cavaco, B.M.2    Bowl, M.R.3    Harding, B.4    Young, A.5    Thakker, R.V.6
  • 16
    • 83455163973 scopus 로고    scopus 로고
    • Identification of the first germline HRPT2 whole-gene deletion in a patient with primary hyperparathyroidism
    • Domingues R, Tomaz RA, Martins C, Nunes C, Bugalho MJ, Cavaco BM. Identification of the first germline HRPT2 whole-gene deletion in a patient with primary hyperparathyroidism. Clin Endocrinol (Oxf). 2012;76(1):33-38.
    • (2012) Clin Endocrinol (Oxf). , vol.76 , Issue.1 , pp. 33-38
    • Domingues, R.1    Tomaz, R.A.2    Martins, C.3    Nunes, C.4    Bugalho, M.J.5    Cavaco, B.M.6
  • 18
    • 2942513691 scopus 로고    scopus 로고
    • Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP)
    • Villablanca A, Calender A, Forsberg L, et al. Germline and de novo mutations in theHRPT2tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J Med Genet. 2004;41(3):e32.
    • (2004) J Med Genet. , vol.41 , Issue.3
    • Villablanca, A.1    Calender, A.2    Forsberg, L.3
  • 19
    • 84860409929 scopus 로고    scopus 로고
    • Familial hyperparathyroidism due to a germline mutation of the CDC73 gene: Implications for management and age-appropriate testing of relatives at risk
    • Pichardo-Lowden AR, Manni A, Saunders BD, Baker MJ. Familial hyperparathyroidism due to a germline mutation of the CDC73 gene: implications for management and age-appropriate testing of relatives at risk. Endocr Pract. 2011;17(4):602-609.
    • (2011) Endocr Pract. , vol.17 , Issue.4 , pp. 602-609
    • Pichardo-Lowden, A.R.1    Manni, A.2    Saunders, B.D.3    Baker, M.J.4
  • 20
    • 58249097267 scopus 로고    scopus 로고
    • Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism
    • Masi G, Barzon L, Iacobone M, et al. Clinical, genetic, and histopathologic investigation of CDC73-related familial hyperparathyroidism. Endocr Relat Cancer. 2008;15(4):1115-1126.
    • (2008) Endocr Relat Cancer. , vol.15 , Issue.4 , pp. 1115-1126
    • Masi, G.1    Barzon, L.2    Iacobone, M.3
  • 21
    • 80051700212 scopus 로고    scopus 로고
    • CDC73-related hereditary hyperparathyroidism: Five new mutations and the clinical spectrum
    • Frank-Raue K, Haag C, Schulze E, et al. CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum. Eur J Endocrinol. 2011;165(3):477-483.
    • (2011) Eur J Endocrinol. , vol.165 , Issue.3 , pp. 477-483
    • Frank-Raue, K.1    Haag, C.2    Schulze, E.3
  • 22
    • 61449123151 scopus 로고    scopus 로고
    • High third generation/second generation PTH ratio in a patient with parathyroid carcinoma: Clinical utility of third generation/second generation PTH ratio in patients with primary hyperparathyroidism
    • Caron P, Maiza JC, Renaud C, Cormier C, Barres BH, Souberbielle JC. High third generation/second generation PTH ratio in a patient with parathyroid carcinoma: clinical utility of third generation/second generation PTH ratio in patients with primary hyperparathyroidism. Clin Endocrinol (Oxf). 2009;70(4):533-538.
    • (2009) Clin Endocrinol (Oxf). , vol.70 , Issue.4 , pp. 533-538
    • Caron, P.1    Maiza, J.C.2    Renaud, C.3    Cormier, C.4    Barres, B.H.5    Souberbielle, J.C.6
  • 23
    • 79955817402 scopus 로고    scopus 로고
    • Nontruncated amino-terminal parathyroid hormone overproduction in two patients with parathyroid carcinoma: A possible link to HRPT2 gene inactivation
    • Caron P, Simonds WF, Maiza JC, et al. Nontruncated amino-terminal parathyroid hormone overproduction in two patients with parathyroid carcinoma: a possible link to HRPT2 gene inactivation. Clin Endocrinol (Oxf). 2011;74(6):694-698.
    • (2011) Clin Endocrinol (Oxf). , vol.74 , Issue.6 , pp. 694-698
    • Caron, P.1    Simonds, W.F.2    Maiza, J.C.3
  • 24
    • 78249289133 scopus 로고    scopus 로고
    • Parathyroid pathology: Hyperparathyroidism and parathyroid tumors
    • Carlson D. Parathyroid pathology: hyperparathyroidism and parathyroid tumors. Arch Pathol Lab Med. 2010;134(11):1639-1644.
    • (2010) Arch Pathol Lab Med. , vol.134 , Issue.11 , pp. 1639-1644
    • Carlson, D.1
  • 25
    • 34249041993 scopus 로고    scopus 로고
    • Should parafibromin staining replace HRTP2 gene analysis as an additional tool for histologic diagnosis of parathyroid carcinoma?
    • Cetani F, Ambrogini E, Viacava P, et al. Should parafibromin staining replace HRTP2 gene analysis as an additional tool for histologic diagnosis of parathyroid carcinoma? Eur J Endocrinol. 2007; 156(5):547-554.
    • (2007) Eur J Endocrinol. , vol.156 , Issue.5 , pp. 547-554
    • Cetani, F.1    Ambrogini, E.2    Viacava, P.3
  • 26
    • 0142213734 scopus 로고    scopus 로고
    • Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma
    • Shattuck TM, Välimäki S, Obara T, et al. Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med. 2003;349(18):1722-1729.
    • (2003) N Engl J Med. , vol.349 , Issue.18 , pp. 1722-1729
    • Shattuck, T.M.1    Välimäki, S.2    Obara, T.3
  • 27
    • 0041328511 scopus 로고    scopus 로고
    • HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours
    • Howell VM, Haven CJ, Kahnoski K, et al. HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. J Med Genet. 2003;40(9):657-663.
    • (2003) J Med Genet. , vol.40 , Issue.9 , pp. 657-663
    • Howell, V.M.1    Haven, C.J.2    Kahnoski, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.