SCOPUS 정보 검색 플랫폼

Volumn 20, Issue 11, 1997, Pages 1731-1737

Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA: Comparison with MIDD syndrome (A3243G mutation): A case report

(11) Vialettes, B H b Paquis Flucklinger, V a Pelissier, J F c Bendahan, D d Narbonne, H b Silvestre Aillaud, P b Montfort, M F c Righini Chossegros, M b Pouget, J e Cozzone, P J d Desnuelle, C a

a UNIVERSITÉ CÔTE D'AZUR (France)

b HÔPITAL SAINTE MARGUERITE (France)

c AIX MARSEILLE UNIVERSITY (France)

d University of Aix Marseille (France)

e TIMONE HOSPITAL (France)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; CASE REPORT; DIABETES MELLITUS; GENETIC LINKAGE; HEARING IMPAIRMENT; HUMAN; MALE; MITOCHONDRIAL RESPIRATION; MUSCLE; PEDIGREE; PHENOTYPE; POINT MUTATION; RETINA;

EID: 0030832950 PISSN: 01495992 EISSN: None Source Type: Journal
DOI: 10.2337/diacare.20.11.1731 Document Type: Article

Times cited : (54)

References (11)

1
- 0030046495
- Mitochondria and diabetes: Genetic, biochemical, and clinical implications of the cellular energy circuit
- Gerbitz KD, Gempel K, Brdiczka D: Mitochondria and diabetes: genetic, biochemical, and clinical implications of the cellular energy circuit. Diabetes 45:113-126, 1996
- (1996) Diabetes , vol.45 , pp. 113-126
- Gerbitz, K.D.¹ Gempel, K.² Brdiczka, D.³

2
- 0026906885
- Mutations in mitochondrial tRNa leu (UUR) gene in a large pedigree with maternally transmitted type 2 diabetes mellitus and deafness
- Van Der Ouweland JMW, Lemkes HHPJ, Ruitenbeek W, Sandkuijl LA, De Vijlder MF, Struyvenberg PAA, Van De Kamp JPP, Maasem JA: Mutations in mitochondrial tRNA leu (UUR) gene in a large pedigree with maternally transmitted type 2 diabetes mellitus and deafness. Nat Genet 1:368-371, 1992
- (1992) Nat Genet , vol.1 , pp. 368-371
- Van Der Ouweland, J.M.W.¹ Lemkes, H.H.P.J.² Ruitenbeek, W.³ Sandkuijl, L.A.⁴ De Vijlder, M.F.⁵ Struyvenberg, P.A.A.⁶ Van De Kamp, J.P.P.⁷ Maasem, J.A.⁸

3
- 0026462744
- Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA
- Reardon W, Ross RJM, Sweeney MG, Luxon LM, Pembrey ME, Harding AE, Trembath RC: Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA. Lancet 340:1376-1379, 1992
- (1992) Lancet , vol.340 , pp. 1376-1379
- Reardon, W.¹ Ross, R.J.M.² Sweeney, M.G.³ Luxon, L.M.⁴ Pembrey, M.E.⁵ Harding, A.E.⁶ Trembath, R.C.⁷

4
- 0029024548
- Mitochondrial diabetes mellitus: A review
- Gerbitz KD, Van Den Ouweland JMW, Massen JA, Jakoch M: Mitochondrial diabetes mellitus: a review. Biochim Biophys Acta 1271:259-260, 1995
- (1995) Biochim Biophys Acta , vol.1271 , pp. 259-260
- Gerbitz, K.D.¹ Van Den Ouweland, J.M.W.² Massen, J.A.³ Jakoch, M.⁴

5
- 0029129204
- Bilateral macular pattern dystrophy, deafness and diabetes mellitus associated with mutation of mitochondrial DNA
- Massin P, Guillausseau PJ, Vialettes B, Paquis V Orsini F, Grimaldi A, Gaudric A: Bilateral macular pattern dystrophy, deafness and diabetes mellitus associated with mutation of mitochondrial DNA. Am J Ophthalmol 120:247-248, 1995
- (1995) Am J Ophthalmol , vol.120 , pp. 247-248
- Massin, P.¹ Guillausseau, P.J.² Vialettes, B.³ Paquis, V.⁴ Orsini, F.⁵ Grimaldi, A.⁶ Gaudric, A.⁷

6
- 0029045820
- Leu(UUR) gene
- Leu(UUR) gene. Diabetes Care 18:1023-1028, 1995
- (1995) Diabetes Care , vol.18 , pp. 1023-1028
- Vialettes, B.¹ Paquis-Flucklinger, V.² Silvestre-Aillaud, P.³ Bendahan, D.⁴ Pellissier, J.F.⁵ Etchary-Bouyx, F.⁶ Raccah, D.⁷ Gin, H.⁸ Guillausseau, P.J.⁹ Vanuxen, D.¹⁰ Orsini, F.¹¹ Pouget, J.¹² Cozzone, P.¹³ Desnuelle, C.¹⁴

7
- 0028917662
- Congenital encephalopathy and adult-onset myopathy and diabetes mellitus: Different phenotypic association of a new heteroplasmic mt DNA t RNA glutamic acid mutation
- Hanna MG, Nelson I, Sweeney MG, Cooper JM, Watkins PJ, Morgan-Hughes JA, Harding AE: Congenital encephalopathy and adult-onset myopathy and diabetes mellitus: different phenotypic association of a new heteroplasmic mt DNA t RNA glutamic acid mutation. Am J Hum Genet 56:1026-1033, 1995
- (1995) Am J Hum Genet , vol.56 , pp. 1026-1033
- Hanna, M.G.¹ Nelson, I.² Sweeney, M.G.³ Cooper, J.M.⁴ Watkins, P.J.⁵ Morgan-Hughes, J.A.⁶ Harding, A.E.⁷

8
- 0028927272
- Segregation patterns of a novel mutation in the mitochondrial t RNA glutamic acid gene associated with myopathy and diabetes mellitus
- Hao H, Bonilla E, Manfredi G, Di Mauro S, Moraes CT: Segregation patterns of a novel mutation in the mitochondrial t RNA glutamic acid gene associated with myopathy and diabetes mellitus. Am J Hum Genet 56:1017-1025, 1995
- (1995) Am J Hum Genet , vol.56 , pp. 1017-1025
- Hao, H.¹ Bonilla, E.² Manfredi, G.³ Di Mauro, S.⁴ Moraes, C.T.⁵

9
- 0002647083
- Basic Methods
- New York, Elsevier
- Davis GL, Dibner MD, Battey JF: Basic Methods in Molecular Biology. New York, Elsevier, 1986
- (1986) Molecular Biology
- Davis, G.L.¹ Dibner, M.D.² Battey, J.F.³

10
- 0029882006
- Rapid mapping of mitochondrial DNA deletions by large fragment PCR
- Paul R, Santucci S, Saunières A, Desnuelle C, Paquis V: Rapid mapping of mitochondrial DNA deletions by large fragment PCR. TIG 12:131-132, 1996
- (1996) TIG , vol.12 , pp. 131-132
- Paul, R.¹ Santucci, S.² Saunières, A.³ Desnuelle, C.⁴ Paquis, V.⁵

11
- 0026612942
- Bendahan D, Desnuelle C, Vanuxen D, Confort-Gouny S, Figarella-Branger D, Pellissier JF, Kozak-Ribbens G, Pouget J, Serratrice G, Cozzone PJ: 31-P NMR spectroscopy and ergometer exercise test as evidence for muscle oxidative performance improvement with coenzyme Q in mitochondrial myopathies. Neurology 42:1203-1204, 1992
- Bendahan, D.¹ Desnuelle, C.² Vanuxen, D.³ Confort-Gouny, S.⁴ Figarella-Branger, D.⁵ Pellissier, J.F.⁶ Kozak-Ribbens, G.⁷

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.