메뉴 건너뛰기




Volumn 142, Issue , 2012, Pages

Monogenic diabetes mellitus due to defects in insulin secretion

Author keywords

Mitochondrial diabetes; MODY; Monogenic diabetes; Neonatal diabetes

Indexed keywords

DIABETES MELLITUS; GENE MUTATION; GENETIC SCREENING; HUMAN; INSULIN DEPENDENT DIABETES MELLITUS; INSULIN RELEASE; MATERNALLY INHERITED DIABETES AND DEAFNESS; MEDICAL ERROR; MONOGENIC DISORDER; NEONATAL DIABETES MELLITUS; NEWBORN DISEASE; NON INSULIN DEPENDENT DIABETES MELLITUS; PANCREAS ISLET BETA CELL; PROGNOSIS; REVIEW; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENETICS; MUTATION; NEWBORN; PATHOLOGY; PATHOPHYSIOLOGY; RISK FACTOR; SECRETION (PROCESS);

EID: 84870409719     PISSN: 14247860     EISSN: None     Source Type: Journal    
DOI: 10.4414/smw.2012.13690     Document Type: Review
Times cited : (15)

References (58)
  • 1
    • 0035960122 scopus 로고    scopus 로고
    • Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young
    • Fajans SS, Graeme IB, Polonksy KS. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. N Engl J Med. 2001;345:971-80
    • (2001) N Engl J Med , vol.345 , pp. 971-980
    • Fajans, S.S.1    Graeme, I.B.2    Polonksy, K.S.3
  • 2
    • 84868292211 scopus 로고    scopus 로고
    • Clinical features and treatment of maturity onset diabetes of the young (MODY)
    • Gardner D, Shyong Tai E. Clinical features and treatment of maturity onset diabetes of the young (MODY). Diabet Metab Syndr Obes. 2012;5:101-8.
    • (2012) Diabet Metab Syndr Obes , vol.5 , pp. 101-108
    • Gardner, D.1    Shyong Tai, E.2
  • 4
    • 65549131516 scopus 로고    scopus 로고
    • Phenotypical aspects of maturity-onset diabetes of the young (MODY diabetes) in comparison with type 2 diabetes mellitus (T2DM) in children and adolescents: Experience from a large multicentre database
    • Schober E, Rami B, Grabert M, Thon A, Kapellen T, Reinehr T, et al. Phenotypical aspects of maturity-onset diabetes of the young (MODY diabetes) in comparison with type 2 diabetes mellitus (T2DM) in children and adolescents: experience from a large multicentre database. Diabet Med. 2009;26:466-73.
    • (2009) Diabet Med , vol.26 , pp. 466-473
    • Schober, E.1    Rami, B.2    Grabert, M.3    Thon, A.4    Kapellen, T.5    Reinehr, T.6
  • 5
    • 64249170094 scopus 로고    scopus 로고
    • A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients
    • Shepherd M, Shields B, Ellard S, Rubio-Cabezas O, Hattersley AT. A genetic diagnosis of HNF1A diabetes alters treatment and improves glycaemic control in the majority of insulin-treated patients. Diabet Med. 2009;26:437-41.
    • (2009) Diabet Med , vol.26 , pp. 437-441
    • Shepherd, M.1    Shields, B.2    Ellard, S.3    Rubio-Cabezas, O.4    Hattersley, A.T.5
  • 6
    • 0142186278 scopus 로고    scopus 로고
    • Genetic cause of hyperglycaemia and response to treatment in diabetes
    • DOI 10.1016/S0140-6736(03)14571-0
    • Pearson ER, Starkey BJ, Powell RJ, Gribble FM, Clark PM, Hattersley AT, et al. Genetic cause of hyperglycaemia and response to treatment in diabetes. Lancet. 2003;362:1275-81. (Pubitemid 37324255)
    • (2003) Lancet , vol.362 , Issue.9392 , pp. 1275-1281
    • Pearson, E.R.1    Starkey, B.J.2    Powell, R.J.3    Gribble, F.M.4    Clark, P.M.5    Hattersley, A.T.6
  • 7
    • 41149139275 scopus 로고    scopus 로고
    • Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young
    • Ellard S, Bellanné-Chantelot C, Hattersley AT. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia. 2008;51:546-53.
    • (2008) Diabetologia , vol.51 , pp. 546-553
    • Ellard, S.1    Bellanné-Chantelot, C.2    Hattersley, A.T.3
  • 8
    • 84862526033 scopus 로고    scopus 로고
    • The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes
    • Shields BM, McDonald TJ, Ellard S, Campbell MJ, Hyde C, Hattersley AT. The development and validation of a clinical prediction model to determine the probability of MODY in patients with young-onset diabetes. Diabetologia. 2012;55:1265-72.
    • (2012) Diabetologia , vol.55 , pp. 1265-1272
    • Shields, B.M.1    McDonald, T.J.2    Ellard, S.3    Campbell, M.J.4    Hyde, C.5    Hattersley, A.T.6
  • 9
    • 84858996746 scopus 로고    scopus 로고
    • Diagnosis and management of maturity onset diabetes of the young (MODY)
    • Thanabalasingham G, Owen KR. Diagnosis and management of maturity onset diabetes of the young (MODY). BMJ. 2011;343:d6044
    • (2011) BMJ , vol.343
    • Thanabalasingham, G.1    Owen, K.R.2
  • 13
    • 0035122350 scopus 로고    scopus 로고
    • β-Cell genes and diabetes: Quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1α and glucokinase mutations
    • Pearson ER, Velho G, Clark P, Stride A, Shepherd M, Frayling TM, et al. β-Cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1α and glucokinase mutations. Diabetes 2001;50:101-7.
    • (2001) Diabetes , vol.50 , pp. 101-107
    • Pearson, E.R.1    Velho, G.2    Clark, P.3    Stride, A.4    Shepherd, M.5    Frayling, T.M.6
  • 14
    • 23044435921 scopus 로고    scopus 로고
    • Genetic testing for glucokinase mutations in clinically selected patients with MODY: A worthwhile investment
    • Schnyder S, Mullis PE, Ellard S, Hattersley AT, Flück CE. Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment. Swiss Med Wkly. 2005;135:352-6. (Pubitemid 41059277)
    • (2005) Swiss Medical Weekly , vol.135 , Issue.23-24 , pp. 352-356
    • Schnyder, S.1    Mullis, P.E.2    Ellard, S.3    Hattersley, A.T.4    Fluck, C.E.5
  • 15
    • 0026562918 scopus 로고
    • Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus
    • Vionnet N, Stoffel M, Takeda J, Yasuda K, Bell GI, Zouali H, et al. Nonsense mutation in the glucokinase gene causes early-onset non-insulin-dependent diabetes mellitus. Nature. 1992;356:721-2.
    • (1992) Nature , vol.356 , pp. 721-722
    • Vionnet, N.1    Stoffel, M.2    Takeda, J.3    Yasuda, K.4    Bell, G.I.5    Zouali, H.6
  • 17
    • 0031253820 scopus 로고    scopus 로고
    • Early-onset type-II diabetes mellitus (MODY4) linked to IPF1
    • Stoffers DA, Ferrer J, Clarke WL, Habener JF. Early-onset type-II diabetes mellitus (MODY4) linked to IPF1. Nat Genet. 1997;17:138-9.
    • (1997) Nat Genet , vol.17 , pp. 138-139
    • Stoffers, D.A.1    Ferrer, J.2    Clarke, W.L.3    Habener, J.F.4
  • 21
    • 80053422053 scopus 로고    scopus 로고
    • Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): A protein misfolding disease
    • Johansson BB, Torsvik J, Bjørkhaug L, Vesterhus M, Ragvin A, Tjora E, et al. Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease. J Biol Chem. 2011;286:34593-605.
    • (2011) J Biol Chem , vol.286 , pp. 34593-34605
    • Johansson, B.B.1    Torsvik, J.2    Bjørkhaug, L.3    Vesterhus, M.4    Ragvin, A.5    Tjora, E.6
  • 24
    • 0031912314 scopus 로고    scopus 로고
    • Mitochondrial disorders
    • DOI 10.1097/00005792-199801000-00006
    • Zeviani M, Tiranti V, Piantadosi C. Mitochondrial disorders. Medicine. (Baltimore) 1998;77:59-72. (Pubitemid 28078246)
    • (1998) Medicine , vol.77 , Issue.1 , pp. 59-72
    • Zeviani, M.1    Tiranti, V.2    Piantadosi, C.3
  • 25
    • 83655164687 scopus 로고    scopus 로고
    • Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell
    • Oçal G, Flanagan SE, Hacihamdioǧlu B, Berberoǧlu M, Siklar Z, Ellard S, et al. Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell. J Pediatr Endocrinol Metab. 2011;24:1019-23.
    • (2011) J Pediatr Endocrinol Metab , vol.24 , pp. 1019-1023
    • Oçal, G.1    Flanagan, S.E.2    Hacihamdioǧlu, B.3    Berberoǧlu, M.4    Siklar, Z.5    Ellard, S.6
  • 26
    • 26244451177 scopus 로고    scopus 로고
    • Letter re: Neonatal diabetes mellitus and mutation in the HNF-1β gene [2]
    • DOI 10.1210/jc.2005-1156
    • D'Amato E, Lorini R. Neonatal diabetes mellitus and mutation in the HNF-1beta gene. J Clin Endocrinol Metab. 2005;90:5906-7. (Pubitemid 41415512)
    • (2005) Journal of Clinical Endocrinology and Metabolism , vol.90 , Issue.10 , pp. 5906-5907
    • D'Amato, E.1    Lorini, R.2
  • 27
    • 75549091478 scopus 로고    scopus 로고
    • Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation
    • Thomas IH, Saini NK, Adhikari A, Lee JM, Kasa-Vubu JZ, Vazquez DM, et al. Neonatal diabetes mellitus with pancreatic agenesis in an infant with homozygous IPF-1 Pro63fsX60 mutation. Pediatr Diabetes. 2009;10:492-6.
    • (2009) Pediatr Diabetes , vol.10 , pp. 492-496
    • Thomas, I.H.1    Saini, N.K.2    Adhikari, A.3    Lee, J.M.4    Kasa-Vubu, J.Z.5    Vazquez, D.M.6
  • 29
    • 79959716801 scopus 로고    scopus 로고
    • Permanent diabetes during the first year of life: Multiple gene screening in 54 patients
    • ISPED Early Diabetes Study Group
    • Russo L, Iafusco D, Brescianini S, Nocerino V, Bizzarri C, Toni S, et al. (ISPED Early Diabetes Study Group). Permanent diabetes during the first year of life: multiple gene screening in 54 patients. Diabetologia. 2011;54:1693-701.
    • (2011) Diabetologia , vol.54 , pp. 1693-1701
    • Russo, L.1    Iafusco, D.2    Brescianini, S.3    Nocerino, V.4    Bizzarri, C.5    Toni, S.6
  • 30
    • 80051653635 scopus 로고    scopus 로고
    • Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from type 1 diabetes
    • McDonald TJ, Colclough K, Brown R, Shields B, Shepherd M, Bingley P, et al. Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from type 1 diabetes. Diabet Med. 2011;28:1028-33.
    • (2011) Diabet Med , vol.28 , pp. 1028-1033
    • McDonald, T.J.1    Colclough, K.2    Brown, R.3    Shields, B.4    Shepherd, M.5    Bingley, P.6
  • 31
    • 0031447766 scopus 로고    scopus 로고
    • A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes
    • DOI 10.1007/s004390050640
    • Frayling TM, Bulman MP, Appleton M, Hattersley AT, Ellard S. A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes. Hum Genet. 1997;101:351-4. (Pubitemid 28197532)
    • (1997) Human Genetics , vol.101 , Issue.3 , pp. 351-354
    • Frayling, T.M.1    Bulman, M.P.2    Appleton, M.3    Hattersley, A.T.4    Ellard, S.5
  • 32
    • 21544451980 scopus 로고    scopus 로고
    • β-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1α mutation carriers
    • DOI 10.2337/diacare.28.7.1751
    • Stride A, Ellard S, Clark P, Shakespeare L, Salzmann M, Shepherd M, et al. Beta-cell dysfunction, insulin sensitivity, and glycosuria precede diabetes in hepatocyte nuclear factor-1alpha mutation carriers. Diabetes Care. 2005;28:1751-6. (Pubitemid 40923088)
    • (2005) Diabetes Care , vol.28 , Issue.7 , pp. 1751-1756
    • Stride, A.1    Ellard, S.2    Clark, P.3    Shakespeare, L.4    Salzmann, M.5    Shepherd, M.6    Hattersley, A.T.7
  • 33
    • 0027323856 scopus 로고
    • Administration of sulfonylureas can increase glucose-induced insulin secretion for decades in patients with maturity-onset diabetes of the young
    • Fajans SS, Brown MB. Administration of sulfonylureas can increase glucose-induced insulin secretion for decades in patients with maturity-onset diabetes of the young. Diabetes Care. 1993;16:1254-61. (Pubitemid 23259866)
    • (1993) Diabetes Care , vol.16 , Issue.9 , pp. 1254-1261
    • Fajans, S.S.1    Brown, M.B.2
  • 34
    • 0013198186 scopus 로고    scopus 로고
    • Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1α gene mutation carriers
    • DOI 10.2337/diacare.25.12.2287
    • Stride A, Shepherd M, Frayling TM, Bulman MP, Ellard S, Hattersley AT. Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers. Diabetes Care. 2002;25:2287-91. (Pubitemid 41071042)
    • (2002) Diabetes Care , vol.25 , Issue.12 , pp. 2287-2291
    • Stride, A.1    Shepherd, M.2    Frayling, T.M.3    Bulman, M.P.4    Ellard, S.5    Hattersley, A.T.6
  • 36
    • 76249111249 scopus 로고    scopus 로고
    • Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene
    • Steele AM, Shields BM, Shepherd M, Ellard S, Hattersley AT, Pearson ER. Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene. Diabet Med. 2010;27:157-61.
    • (2010) Diabet Med , vol.27 , pp. 157-161
    • Steele, A.M.1    Shields, B.M.2    Shepherd, M.3    Ellard, S.4    Hattersley, A.T.5    Pearson, E.R.6
  • 37
    • 0033791170 scopus 로고    scopus 로고
    • MODY2 presenting as neonatal hyperglycaemia: A need to reshape the definition of "neonatal diabetes"?
    • Prisco F, Iafusco D, Franzese A, Sulli N, Barbetti F. MODY2 presenting as neonatal hyperglycaemia: a need to reshape the definition of "neonatal diabetes"? Diabetologia. 2000;43:1331-2.
    • (2000) Diabetologia , vol.43 , pp. 1331-1332
    • Prisco, F.1    Iafusco, D.2    Franzese, A.3    Sulli, N.4    Barbetti, F.5
  • 38
    • 49649103147 scopus 로고    scopus 로고
    • Long-term follow-up of oral glucose tolerance test-derived glucose tolerance and insulin secretion and insulin sensitivity indexes in subjects with glucokinase mutations (MODY2)
    • Martin D, Bellanné-Chantelot C, Deschamps I, Froguel P, Robert JJ, Velho G. Long-term follow-up of oral glucose tolerance test-derived glucose tolerance and insulin secretion and insulin sensitivity indexes in subjects with glucokinase mutations (MODY2) Diabetes Care. 2008;31:1321-3.
    • (2008) Diabetes Care , vol.31 , pp. 1321-1323
    • Martin, D.1    Bellanné-Chantelot, C.2    Deschamps, I.3    Froguel, P.4    Robert, J.J.5    Velho, G.6
  • 39
    • 0032836391 scopus 로고    scopus 로고
    • A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1β
    • DOI 10.1093/hmg/8.11.2001
    • Lindner TH, Njolstad PR, Horikawa Y, Bostad L, Bell GI, Sovik O. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet. 1999;8:2001-8. (Pubitemid 29458726)
    • (1999) Human Molecular Genetics , vol.8 , Issue.11 , pp. 2001-2008
    • Lindner, T.H.1    Njolstad, P.R.2    Horikawa, Y.3    Bostad, L.4    Bell, G.I.5    Sovik, O.6
  • 41
    • 33645454942 scopus 로고    scopus 로고
    • Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort
    • Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S, Morin D, et al. Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol. 2006;17:497-503.
    • (2006) J Am Soc Nephrol , vol.17 , pp. 497-503
    • Ulinski, T.1    Lescure, S.2    Beaufils, S.3    Guigonis, V.4    Decramer, S.5    Morin, D.6
  • 42
    • 67650230055 scopus 로고    scopus 로고
    • Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young
    • Raile K, Klopocki E, Holder M, Wessel T, Galler A, Deiss D, et al. Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young. J Clin Endocrinol Metab. 2009;94:2658-64.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 2658-2664
    • Raile, K.1    Klopocki, E.2    Holder, M.3    Wessel, T.4    Galler, A.5    Deiss, D.6
  • 43
    • 79961222235 scopus 로고    scopus 로고
    • Clinical characteristics and diagnostic criteria of maturity-onset diabetes of the young (MODY) due to molecular anomalies of the HNF1A gene
    • French Monogenic Diabetes Study Group
    • Bellanné-Chantelot C, Lévy DJ, Carette C, Saint-Martin C, Riveline JP, Larger E, et al. (French Monogenic Diabetes Study Group). Clinical characteristics and diagnostic criteria of maturity-onset diabetes of the young (MODY) due to molecular anomalies of the HNF1A gene. J Clin Endocrinol Metab. 2011;96:1346-51.
    • (2011) J Clin Endocrinol Metab , vol.96 , pp. 1346-1351
    • Bellanné-Chantelot, C.1    Lévy, D.J.2    Carette, C.3    Saint-Martin, C.4    Riveline, J.P.5    Larger, E.6
  • 44
    • 77956373682 scopus 로고    scopus 로고
    • Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities
    • Rubio-Cabezas O, Minton JA, Kantor I, Williams D, Ellard S, Hattersley AT. Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities. Diabetes. 2010;59:2326-31.
    • (2010) Diabetes , vol.59 , pp. 2326-2331
    • Rubio-Cabezas, O.1    Minton, J.A.2    Kantor, I.3    Williams, D.4    Ellard, S.5    Hattersley, A.T.6
  • 45
    • 80155133645 scopus 로고    scopus 로고
    • Association of variants in genes involved in pancreatic β-cell development and function with type 2 diabetes in North Indians
    • Chavali S, Mahajan A, Tabassum R, Dwivedi OP, Chauhan G, Ghosh S, et al. Association of variants in genes involved in pancreatic β-cell development and function with type 2 diabetes in North Indians. J Hum Genet. 2011;56:695-700.
    • (2011) J Hum Genet , vol.56 , pp. 695-700
    • Chavali, S.1    Mahajan, A.2    Tabassum, R.3    Dwivedi, O.P.4    Chauhan, G.5    Ghosh, S.6
  • 46
    • 79960198707 scopus 로고    scopus 로고
    • Diabetes caused by insulin gene (INS) deletion: Clinical characteristics of homozygous and heterozygous individuals
    • Raile K, O'Connell M, Galler A, Werther G, Kühnen P, Krude H, et al. Diabetes caused by insulin gene (INS) deletion: clinical characteristics of homozygous and heterozygous individuals. Eur J Endocrinol. 2011;165:255-60.
    • (2011) Eur J Endocrinol , vol.165 , pp. 255-260
    • Raile, K.1    O'Connell, M.2    Galler, A.3    Werther, G.4    Kühnen, P.5    Krude, H.6
  • 48
    • 80054692207 scopus 로고    scopus 로고
    • A large multicentre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes
    • Thanabalasingham G, Shah N, Vaxillaire M, Hansen T, Tuomi T, Gašperíková D, et al. A large multicentre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes. Diabetologia. 2011;54:2801-10.
    • (2011) Diabetologia , vol.54 , pp. 2801-2810
    • Thanabalasingham, G.1    Shah, N.2    Vaxillaire, M.3    Hansen, T.4    Tuomi, T.5    Gašperíková, D.6
  • 51
    • 33745779229 scopus 로고    scopus 로고
    • Diabetes-associated mitochondrial DNA mutation A3243G impairs cellular metabolic pathways necessary for beta cell function
    • DOI 10.1007/s00125-006-0301-9
    • de Andrade PB, Rubi B, Frigerio F, van den Ouweland JM, Maassen JA, Maechler P. Diabetes-associated mitochondrial DNA mutation A3243G impairs cellular metabolic pathways necessary for beta cell function. Diabetologia. 2006;49:1816-26. (Pubitemid 44025036)
    • (2006) Diabetologia , vol.49 , Issue.8 , pp. 1816-1826
    • De Andrade, P.B.M.1    Rubi, B.2    Frigerio, F.3    Van Den, O.J.M.W.4    Maassen, J.A.5    Maechler, P.6
  • 52
    • 0034758460 scopus 로고    scopus 로고
    • Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics
    • DOI 10.1007/s100380170027
    • Nagata H, Kumahara K, Tomemori T, Arimoto Y, Isoyama K, Yoshida K, et al. Frequency and clinical features of patients with sensorineural hearing loss associated with the A3243G mutation of the mitochondrial DNA in otorhinolaryngic clinics. J Hum Genet. 2001;46:595-9. (Pubitemid 33032413)
    • (2001) Journal of Human Genetics , vol.46 , Issue.10 , pp. 595-599
    • Nagata, H.1    Kumahara, K.2    Tomemori, T.3    Arimoto, Y.4    Isoyama, K.5    Yoshida, K.6    Konno, A.7
  • 53
    • 68549130511 scopus 로고    scopus 로고
    • The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes
    • Mitochondrial Diabetes French Study Group
    • Laloi-Michelin M, Meas T, Ambonville C, Bellanné-Chantelot C, Beaufils S, Massin P, et al. Mitochondrial Diabetes French Study Group. The clinical variability of maternally inherited diabetes and deafness is associated with the degree of heteroplasmy in blood leukocytes. J Clin Endocrinol Metab. 2009;94:3025-30.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 3025-3030
    • Laloi-Michelin, M.1    Meas, T.2    Ambonville, C.3    Bellanné-Chantelot, C.4    Beaufils, S.5    Massin, P.6
  • 54
    • 0037299943 scopus 로고    scopus 로고
    • Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells
    • Lynn S, Borthwick GM, Charnley RM, Walker M, Turnbull DM. Heteroplasmic ratio of the A3243G mitochondrial DNA mutation in single pancreatic beta cells. Diabetologia. 2003;46:296-9. (Pubitemid 36343896)
    • (2003) Diabetologia , vol.46 , Issue.2 , pp. 296-299
    • Lynn, S.1    Borthwick, G.M.2    Charnley, R.M.3    Walker, M.4    Turnbull, D.M.5
  • 56
    • 33645395576 scopus 로고    scopus 로고
    • Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative disease
    • Domenech E, Gomez-Zaera M, Nunes V. Wolfram/DIDMOAD syndrome, a heterogenic and molecularly complex neurodegenerative disease. Pediatr Endocrinol Rev. 2006;3:249-57.
    • (2006) Pediatr Endocrinol Rev , vol.3 , pp. 249-257
    • Domenech, E.1    Gomez-Zaera, M.2    Nunes, V.3
  • 58
    • 79551663845 scopus 로고    scopus 로고
    • Permanent neonatal diabetes mellitus - The importance of diabetes differential diagnosis in neonates and infants
    • CEED3 Consortium
    • Rubio-Cabezas O, Klupa T, Malecki MT. CEED3 Consortium. Permanent neonatal diabetes mellitus - the importance of diabetes differential diagnosis in neonates and infants. Eur J Clin Invest. 2011;41:323-33.
    • (2011) Eur J Clin Invest , vol.41 , pp. 323-333
    • Rubio-Cabezas, O.1    Klupa, T.2    Malecki, M.T.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.