Maternal transmission of symptomatic disease with SDHD mutation:: Fact or fiction?

被引:24
作者
Neumann, Hartmut P. H. [1 ]
Erlic, Zoran [1 ]
机构
[1] Univ Freiburg, Dept Nephrol, Sect Prevent Med, D-79106 Freiburg, Germany
关键词
D O I
10.1210/jc.2008-0569
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1573 / 1575
页数:3
相关论文
共 23 条
[1]   Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma [J].
Astuti, D ;
Latif, F ;
Dallol, A ;
Dahia, PLM ;
Douglas, F ;
George, E ;
Sköldberg, F ;
Husebye, ES ;
Eng, C ;
Maher, ER .
AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (01) :49-54
[2]   Genomic imprinting and environment in hereditary paraganglioma [J].
Baysal, BE .
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2004, 129C (01) :85-90
[3]   Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma [J].
Baysal, BE ;
Ferrell, RE ;
Willett-Brozick, JE ;
Lawrence, EC ;
Myssiorek, D ;
Bosch, A ;
van der Mey, A ;
Taschner, PEM ;
Rubinstein, WS ;
Myers, EN ;
Richard, CW ;
Cornelisse, CJ ;
Devilee, P ;
Devlin, B .
SCIENCE, 2000, 287 (5454) :848-851
[4]   Hereditary paraganglioma target's diverse paraganglia [J].
Baysal, BE .
JOURNAL OF MEDICAL GENETICS, 2002, 39 (09) :617-622
[5]   Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes [J].
Benn, DE ;
Gimenez-Roqueplo, AP ;
Reilly, JR ;
Bertherat, J ;
Burgess, J ;
Byth, K ;
Croxson, M ;
Dahia, PLM ;
Elston, M ;
Gimm, O ;
Henley, D ;
Herman, P ;
Murday, V ;
Niccoli-Sire, P ;
Pasieka, JL ;
Rohmer, V ;
Tucker, K ;
Jeunemaitre, X ;
Marsh, DJ ;
Plouin, PF ;
Robinson, BG .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2006, 91 (03) :827-836
[6]   Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism -: Association with a reduction to hamozygosity of a mutation in ABCC8 or KCNJ11 [J].
Fournet, JC ;
Mayaud, C ;
de Lonlay, P ;
Gross-Morand, MS ;
Verkarre, V ;
Castanet, M ;
Devillers, M ;
Rahier, J ;
Brunelle, F ;
Robert, JJ ;
Nihoul-Fékété, C ;
Saudubray, JM ;
Junien, C .
AMERICAN JOURNAL OF PATHOLOGY, 2001, 158 (06) :2177-2184
[7]   Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families [J].
Hensen, EF ;
Jordanova, ES ;
van Minderhout, IJHM ;
Hogendoorn, PCW ;
Taschner, PEM ;
van der Mey, AGL ;
Devilee, P ;
Cornelisse, CJ .
ONCOGENE, 2004, 23 (23) :4076-4083
[8]   A GENE SUBJECT TO GENOMIC IMPRINTING AND RESPONSIBLE FOR HEREDITARY PARAGANGLIOMAS MAPS TO CHROMOSOME 11Q23-QTER [J].
HEUTINK, P ;
VANDERMEY, AGL ;
SANDKUIJL, LA ;
VANGILS, APG ;
BARDOEL, A ;
BREEDVELD, GJ ;
VANVLIET, M ;
VANOMMEN, GJB ;
CORNELISSE, CJ ;
OOSTRA, BA ;
WEBER, JL ;
DEVILEE, P .
HUMAN MOLECULAR GENETICS, 1992, 1 (01) :7-10
[9]   FINE MAPPING OF A PUTATIVELY IMPRINTED GENE FOR FAMILIAL NONCHROMAFFIN PARAGANGLIOMAS TO CHROMOSOME 11Q13.1 - EVIDENCE FOR GENETIC-HETEROGENEITY [J].
MARIMAN, ECM ;
VANBEERSUM, SEC ;
CREMERS, CWRJ ;
STRUYCKEN, PM ;
ROPERS, HH .
HUMAN GENETICS, 1995, 95 (01) :56-62
[10]   Familial gastrointestinal stromal tumors and germ-line mutations [J].
McWhinney, Sarah R. ;
Pasini, Barbara ;
Stratakis, Constantine A. .
NEW ENGLAND JOURNAL OF MEDICINE, 2007, 357 (10) :1054-1056