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American Journal of Medical Genetics

Volumn 100, Issue 4, 2001, Pages 311-314

Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma

(4) Milunsky, Jeff M a Maher, Thomas A a Michels, Virginia V b Milunsky, Aubrey a

a BOSTON UNIVERSITY SCHOOL OF MEDICINE (United States)

b MAYO CLINIC (United States)

Author keywords

Imprinting; Mitochondrial complex II; Paraganglioma; SDHD gene

Indexed keywords

GENE PRODUCT; PROTEIN SDHD; RESTRICTION ENDONUCLEASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 11Q; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILIAL DISEASE; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE TRANSFER; GENETIC LINKAGE; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC SCREENING; GENOME IMPRINTING; HUMAN; METASTASIS; MISSENSE MUTATION; MITOCHONDRION; MOLECULAR BIOLOGY; MORBIDITY; NEURAL CREST CELL; PARAGANGLIOMA; PRIORITY JOURNAL;

CHROMOSOMES, HUMAN, PAIR 11; CYTOCHROME B GROUP; DNA MUTATIONAL ANALYSIS; EXONS; GENOMIC IMPRINTING; GERM-LINE MUTATION; HUMANS; LINKAGE (GENETICS); MITOCHONDRIA; MUTATION; NADPH OXIDASE; PARAGANGLIOMA; RESTRICTION MAPPING; SEQUENCE ANALYSIS;

EID: 0035874016 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.1270 Document Type: Article

Times cited : (73)

References (19)

1
- 16944363233
- Fine mapping of an imprinted gene for familial non-chromaffin paragangliomas, on chromosome 11q23
- (1997) Am J Hum Genet , vol.60 , pp. 121-132
- Baysal, B.E.¹ Farr, J.E.² Rubinstein, W.³ Galus, R.⁴ Johnson, K.⁵ Aston, C.⁶ Myers, E.N.⁷ Johnson, J.T.⁸ Carrau, R.⁹ Myssiorek, D.¹⁰ Kirpatrick, S.¹¹ Singh, D.¹² Saha, S.¹³ Gollin, S.M.¹⁴ Evans, G.A.¹⁵ James, M.R.¹⁶ Richard, C.W.¹⁷

2
- 0034602950
- Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
- (2000) Science , vol.287 , pp. 848-851
- Baysal, B.E.¹ Ferrell, R.E.² Willett-Brozick, J.E.³ Lawrence, E.C.⁴ Myssiorek, D.⁵ Bosch, A.⁶ Van der Mey, A.⁷ Taschner, P.E.M.⁸ Rubinstein, W.S.⁹ Myers, E.N.¹⁰ Richard, C.W.¹¹ Cornelisse, C.J.¹² Devilee, P.¹³ Devlin, B.¹⁴

3
- 0034307655
- Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
- (2000) Blood , vol.96 , pp. 2317-2322
- Dale, D.C.¹ Person, R.E.² Bolyard, A.A.³ Aprikyan, A.G.⁴ Bos, C.⁵ Bonilla, M.A.⁶ Boxer, L.A.⁷ Kannourakis, G.⁸ Zeidler, C.⁹ Welte, K.¹⁰ Benson, K.F.¹¹ Horwitz, M.¹²

4
- 0018976591
- Familial carotid body tumors: Case report and epidemiologic review
- (1980) Cancer , vol.46 , pp. 2116-2122
- Grufferman, S.¹ Gillman, M.W.² Pasternak, L.R.³ Peterson, C.L.⁴ Young W.G., Jr.⁵

5
- 0026849378
- A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter
- (1992) Hum Mol Genet , vol.1 , pp. 7-10
- Heutink, P.¹ Van der Mey, A.G.L.² Sandkuijl, L.A.³ Van Giles, A.P.G.⁴ Bardoel, A.⁵ Breedveld, G.J.⁶ Van Vliet, M.⁷ Van Ommen, G.J.B.⁸ Cornelisse, C.J.⁹ Oostra, B.A.¹⁰ Weber, J.L.¹¹ Devilee, P.¹²

6
- 0028142934
- Further localization of the gene for hereditary paragangliomas and evidence for linkage in unrelated families
- (1994) Eur J Hum Genet , vol.2 , pp. 148-158
- Heutink, P.¹ Van Schothorst, E.M.² Van der Mey, A.G.L.³ Bardoel, A.⁴ Breedveld, G.⁵ Pertis, J.⁶ Sandkuijl, L.A.⁷ Van Ommen, G.J.B.⁸ Cornelisse, C.J.⁹ Oostra, B.A.¹⁰ Devilee, P.¹¹

7
- 0031430910
- Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23
- (1997) Cytogenet Cell Genet , vol.79 , pp. 132-138
- Hirawake, H.¹ Taniwaki, M.² Tamura, A.³ Kojima, S.⁴ Kita, K.⁵

8
- 0018375375
- Paragangliomas of the head and neck region. A pathologic study of tumors from 71 patients
- (1979) Hum Pathol , vol.10 , pp. 191-218
- Lack, E.E.¹ Cubilla, A.L.² Woodruff, J.M.³

9
- 0027190801
- Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q
- (1993) Hum Genet , vol.91 , pp. 357-361
- Mariman, E.C.M.¹ Van Beersum, S.E.C.² Cremers, C.W.R.J.³ Van Baars, F.M.⁴ Ropers, H.H.⁵

10
- 0028032392
- Familial paragangliomas of the head and neck
- (1994) Arch Otolaryngol Head Neck Surg , vol.120 , pp. 1211-1216
- McCaffrey, T.V.¹ Meyer, F.B.² Michels, V.V.³ Piepgras, D.G.⁴ Marion, M.S.⁵

11
- 0030923420
- Familial paragangliomas: Linkage to chromosome 11q23 and clinical implications
- (1997) Am J Med Genet , vol.72 , pp. 66-70
- Milunsky, J.¹ DeStefano, A.L.² Huang, X.-L.³ Baldwin, C.T.⁴ Michels, V.V.⁵ Jako, G.⁶ Milunsky, A.⁷

12
- 0031594621
- 111Indium pentetreotide scan detection of familial paragangliomas
- (1998) Laryngoscope , vol.108 , pp. 228-231
- Myssiorek, D.¹ Palestro, C.J.²

13
- 0033767445
- Mutations in SDHC cause autosomal dominant paraganglioma, type 3
- (2000) Nature Genetics , vol.26 , pp. 268-270
- Neimann, S.¹ Müller, U.²

14
- 0033938979
- Genetic analysis in the diagnosis of familial paragangliomas
- (2000) Laryngoscope , vol.110 , pp. 1225-1229
- Petropoulos, A.E.¹ Luetje, C.M.² Camarata, P.J.³ Whittaker, C.K.⁴ Lee, G.⁵ Baysal, B.E.⁶

15
- 0031938588
- A family with hereditary extra-adrenal paragangliomas without evidence for mutations in the von Hippel-Lindau disease or ret genes
- (1998) Clin Endocrinol , vol.48 , pp. 11-16
- Skoldberg, F.¹ Grimelius, L.² Woodward, E.R.³ Rorsman, F.⁴ Van Schothorst, E.W.⁵ Winqvist, O.⁶ Karlsson, F.A.⁷ Akerstrom, G.⁸ Kampe, O.⁹ Husebye, E.S.¹⁰

16
- 0025306336
- Familial multiple cervical paragangliomas: Report of a kindred and review of the literature
- (1990) Otolaryngol Head Neck Surg , vol.102 , pp. 382-390
- Sobol, S.M.¹ Dailey, J.C.²

17
- 0024404822
- Genomic imprinting in hereditary glomus tumours; evidence for new genetic theory
- (1989) Lancet , vol.2 , pp. 1291-1293
- Van der Mey, A.G.¹ Maaswinkel-Mooy, P.D.² Cornelisse, C.J.³ Schmidt, P.H.⁴ Van der Kamp, J.J.⁵

18
- 0026683338
- MRI screening of kindred at risk of developing paragangliomas: Support for genomic imprinting in hereditary glomus tumors
- (1992) Br J Cancer , vol.65 , pp. 903-907
- Van Giles, A.P.¹ Van der Mey, A.G.² Hoogma, R.P.³ Sandkuijl, L.A.⁴ Maaswinkel-Mooy, P.D.⁵ Falke, T.H.⁶ Pauwels, E.K.⁷

19
- 0028055037
- MRI diagnosis of paraganglioma of the head and neck: Value of contrast enhancement
- (1994) AJR Am J Roentgenol , vol.162 , pp. 147-153
- Van Giles, A.P.¹ Van den Berg, R.² Falke, T.H.³ Bloem, J.L.⁴ Prins, H.J.⁵ Dillon, E.H.⁶ Van der May, A.G.⁷ Pauwels, E.K.⁸

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