메뉴 건너뛰기




Volumn 52, Issue 6, 2005, Pages 1637-1650

Monogenic and other unusual causes of diabetes mellitus

Author keywords

[No Author keywords available]

Indexed keywords

GLIBENCLAMIDE; GLUCOSE; GLUCOSE TRANSPORTER; INSULIN; INSULIN SENSITIZING AGENT; METFORMIN; SULFONYLUREA;

EID: 27844608950     PISSN: 00313955     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pcl.2005.07.005     Document Type: Review
Times cited : (17)

References (54)
  • 1
    • 11844299586 scopus 로고    scopus 로고
    • Diagnosis and classification of diabetes mellitus
    • American Diabetes Association
    • American Diabetes Association Diagnosis and classification of diabetes mellitus Diabetes Care 28 Suppl 1 2005 S37 S42
    • (2005) Diabetes Care , vol.28 , Issue.1 SUPPL.
  • 2
    • 0035960122 scopus 로고    scopus 로고
    • Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young
    • S.S. Fajans, G.I. Bell, and K.S. Polonsky Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young N Engl J Med 345 2001 971 980
    • (2001) N Engl J Med , vol.345 , pp. 971-980
    • Fajans, S.S.1    Bell, G.I.2    Polonsky, K.S.3
  • 3
    • 0026608764 scopus 로고
    • Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus
    • P. Froguel, M. Vaxillaire, and F. Sun Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus Nature 356 1992 162 164
    • (1992) Nature , vol.356 , pp. 162-164
    • Froguel, P.1    Vaxillaire, M.2    Sun, F.3
  • 4
    • 0031892853 scopus 로고    scopus 로고
    • Pancreatic beta-cell glucokinase: Closing the gap between theoretical concepts and experimental realities
    • F.M. Matschinsky, B. Glaser, and M.A. Magnuson Pancreatic beta-cell glucokinase: closing the gap between theoretical concepts and experimental realities Diabetes 47 1998 307 315
    • (1998) Diabetes , vol.47 , pp. 307-315
    • Matschinsky, F.M.1    Glaser, B.2    Magnuson, M.A.3
  • 5
    • 0029864561 scopus 로고    scopus 로고
    • Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects
    • G. Velho, K.F. Petersen, and G. Perseghin Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects J Clin Invest 98 1996 1755 1761
    • (1996) J Clin Invest , vol.98 , pp. 1755-1761
    • Velho, G.1    Petersen, K.F.2    Perseghin, G.3
  • 6
    • 0028149890 scopus 로고
    • Insulin-promoter-factor 1 is required for pancreas development in mice
    • J. Jonsson, L. Carlsson, and T. Edlund Insulin-promoter-factor 1 is required for pancreas development in mice Nature 371 1994 606 609
    • (1994) Nature , vol.371 , pp. 606-609
    • Jonsson, J.1    Carlsson, L.2    Edlund, T.3
  • 7
    • 0031031571 scopus 로고    scopus 로고
    • Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence
    • D.A. Stoffers, N.T. Zinkin, and V. Stanojevic Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence Nat Genet 15 1997 106 110
    • (1997) Nat Genet , vol.15 , pp. 106-110
    • Stoffers, D.A.1    Zinkin, N.T.2    Stanojevic, V.3
  • 8
    • 0028941181 scopus 로고
    • Tissue-specific regulation of the insulin gene by a novel basic helix-loop-helix transcription factor
    • F.J. Naya, C.M. Stellrecht, and M.J. Tsai Tissue-specific regulation of the insulin gene by a novel basic helix-loop-helix transcription factor Genes Dev 9 1995 1009 1019
    • (1995) Genes Dev , vol.9 , pp. 1009-1019
    • Naya, F.J.1    Stellrecht, C.M.2    Tsai, M.J.3
  • 9
    • 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-1beta
    • T.H. Lindner, P.R. Njolstad, and Y. Horikawa 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 8 1999 2001 2008
    • (1999) Hum Mol Genet , vol.8 , pp. 2001-2008
    • Lindner, T.H.1    Njolstad, P.R.2    Horikawa, Y.3
  • 10
    • 0035166810 scopus 로고    scopus 로고
    • Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease
    • C. Bingham, M.P. Bulman, and S. Ellard Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease Am J Hum Genet 68 2001 219 224
    • (2001) Am J Hum Genet , vol.68 , pp. 219-224
    • Bingham, C.1    Bulman, M.P.2    Ellard, S.3
  • 11
    • 0036163052 scopus 로고    scopus 로고
    • A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes
    • I. Carbone, M. Cotellessa, and C. Barella A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes Diabetologia 45 2002 153 154
    • (2002) Diabetologia , vol.45 , pp. 153-154
    • Carbone, I.1    Cotellessa, M.2    Barella, C.3
  • 12
    • 0033847575 scopus 로고    scopus 로고
    • Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: Evidence for pharmacogenetics in diabetes
    • E.R. Pearson, W.G. Liddell, and M. Shepherd Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-1alpha gene mutations: evidence for pharmacogenetics in diabetes Diabet Med 17 2000 543 545
    • (2000) Diabet Med , vol.17 , pp. 543-545
    • Pearson, E.R.1    Liddell, W.G.2    Shepherd, M.3
  • 13
    • 0034809513 scopus 로고    scopus 로고
    • Maturity-onset diabetes of the young: From clinical description to molecular genetic characterization
    • K. Owen, and A.T. Hattersley Maturity-onset diabetes of the young: from clinical description to molecular genetic characterization Best Pract Res Clin Endocrinol Metab 15 2001 309 323
    • (2001) Best Pract Res Clin Endocrinol Metab , vol.15 , pp. 309-323
    • Owen, K.1    Hattersley, A.T.2
  • 14
    • 0035122350 scopus 로고    scopus 로고
    • Beta-cell genes and diabetes: Quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations
    • E.R. Pearson, G. Velho, and P. Clark Beta-cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1alpha and glucokinase mutations Diabetes 50 Suppl 1 2001 S101 S107
    • (2001) Diabetes , vol.50 , Issue.1 SUPPL.
    • Pearson, E.R.1    Velho, G.2    Clark, P.3
  • 15
    • 0031027502 scopus 로고    scopus 로고
    • Characterization of the MODY3 phenotype: Early-onset diabetes caused by an insulin secretion defect
    • M. Lehto, T. Tuomi, and M.M. Mahtani Characterization of the MODY3 phenotype: early-onset diabetes caused by an insulin secretion defect J Clin Invest 99 1997 582 591
    • (1997) J Clin Invest , vol.99 , pp. 582-591
    • Lehto, M.1    Tuomi, T.2    Mahtani, M.M.3
  • 16
  • 17
    • 0033860008 scopus 로고    scopus 로고
    • Transient neonatal diabetes: Widening the understanding of the etiopathogenesis of diabetes
    • I.K. Temple, R.J. Gardner, and D.J. Mackay Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes Diabetes 49 2000 1359 1366
    • (2000) Diabetes , vol.49 , pp. 1359-1366
    • Temple, I.K.1    Gardner, R.J.2    MacKay, D.J.3
  • 18
    • 0036918736 scopus 로고    scopus 로고
    • Transient neonatal diabetes, a disorder of imprinting
    • I.K. Temple, and J.P. Shield Transient neonatal diabetes, a disorder of imprinting J Med Genet 39 2002 872 875
    • (2002) J Med Genet , vol.39 , pp. 872-875
    • Temple, I.K.1    Shield, J.P.2
  • 19
    • 0034163575 scopus 로고    scopus 로고
    • An imprinted locus associated with transient neonatal diabetes mellitus
    • R.J. Gardner, D.J. Mackay, and A.J. Mungall An imprinted locus associated with transient neonatal diabetes mellitus Hum Mol Genet 9 2000 589 596
    • (2000) Hum Mol Genet , vol.9 , pp. 589-596
    • Gardner, R.J.1    MacKay, D.J.2    Mungall, A.J.3
  • 20
    • 4644260056 scopus 로고    scopus 로고
    • Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: Patient characteristics and initial response to sulfonylurea therapy
    • J.V. Sagen, H. Raeder, and E. Hathout Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy Diabetes 53 2004 2713 2718
    • (2004) Diabetes , vol.53 , pp. 2713-2718
    • Sagen, J.V.1    Raeder, H.2    Hathout, E.3
  • 21
    • 2342633204 scopus 로고    scopus 로고
    • Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes
    • A.L. Gloyn, E.R. Pearson, and J.F. Antcliff Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes N Engl J Med 350 2004 1838 1849
    • (2004) N Engl J Med , vol.350 , pp. 1838-1849
    • Gloyn, A.L.1    Pearson, E.R.2    Antcliff, J.F.3
  • 22
    • 0029836983 scopus 로고    scopus 로고
    • Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy
    • P. Thomas, Y. Ye, and E. Lightner Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy Hum Mol Genet 5 1996 1809 1812
    • (1996) Hum Mol Genet , vol.5 , pp. 1809-1812
    • Thomas, P.1    Ye, Y.2    Lightner, E.3
  • 23
    • 0342902204 scopus 로고    scopus 로고
    • Neonatal diabetes mellitus due to complete glucokinase deficiency
    • P.R. Njolstad, O. Sovik, and A. Cuesta-Munoz Neonatal diabetes mellitus due to complete glucokinase deficiency N Engl J Med 344 2001 1588 1592
    • (2001) N Engl J Med , vol.344 , pp. 1588-1592
    • Njolstad, P.R.1    Sovik, O.2    Cuesta-Munoz, A.3
  • 24
    • 0041328471 scopus 로고    scopus 로고
    • Wolcott-Rallison syndrome: Pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3
    • S. Brickwood, D.T. Bonthron, and L.I. Al-Gazali Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3 J Med Genet 40 2003 685 689
    • (2003) J Med Genet , vol.40 , pp. 685-689
    • Brickwood, S.1    Bonthron, D.T.2    Al-Gazali, L.I.3
  • 25
    • 0034526617 scopus 로고    scopus 로고
    • JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome
    • T.A. Chatila, F. Blaeser, and N. Ho JM2, encoding a fork head-related protein, is mutated in X-linked autoimmunity-allergic disregulation syndrome J Clin Invest 106 2000 R75 R81
    • (2000) J Clin Invest , vol.106
    • Chatila, T.A.1    Blaeser, F.2    Ho, N.3
  • 26
    • 0035053151 scopus 로고    scopus 로고
    • Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome
    • E. Levy-Lahad, and R.S. Wildin Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: further evidence for an X-linked lethal syndrome J Pediatr 138 2001 577 580
    • (2001) J Pediatr , vol.138 , pp. 577-580
    • Levy-Lahad, E.1    Wildin, R.S.2
  • 27
    • 0029894371 scopus 로고    scopus 로고
    • X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea
    • J.E. Peake, R.B. McCrossin, and G. Byrne X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea Arch Dis Child Fetal Neonatal Ed 74 1996 F195 F199
    • (1996) Arch Dis Child Fetal Neonatal Ed , vol.74
    • Peake, J.E.1    McCrossin, R.B.2    Byrne, G.3
  • 28
    • 0035821985 scopus 로고    scopus 로고
    • Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation
    • O. Baud, O. Goulet, and D. Canioni Treatment of the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) by allogeneic bone marrow transplantation N Engl J Med 344 2001 1758 1762
    • (2001) N Engl J Med , vol.344 , pp. 1758-1762
    • Baud, O.1    Goulet, O.2    Canioni, D.3
  • 29
    • 0028808309 scopus 로고
    • Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome
    • T.G. Barrett, S.E. Bundey, and A.F. Macleod Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome Lancet 346 1995 1458 1463
    • (1995) Lancet , vol.346 , pp. 1458-1463
    • Barrett, T.G.1    Bundey, S.E.2    MacLeod, A.F.3
  • 30
    • 0025081836 scopus 로고
    • Psychiatric findings in Wolfram syndrome homozygotes
    • R.G. Swift, D.B. Sadler, and M. Swift Psychiatric findings in Wolfram syndrome homozygotes Lancet 336 1990 667 669
    • (1990) Lancet , vol.336 , pp. 667-669
    • Swift, R.G.1    Sadler, D.B.2    Swift, M.3
  • 31
    • 0031983913 scopus 로고    scopus 로고
    • Predisposition of Wolfram syndrome heterozygotes to psychiatric illness
    • R.G. Swift, M.H. Polymeropoulos, and R. Torres Predisposition of Wolfram syndrome heterozygotes to psychiatric illness Mol Psychiatry 3 1998 86 91
    • (1998) Mol Psychiatry , vol.3 , pp. 86-91
    • Swift, R.G.1    Polymeropoulos, M.H.2    Torres, R.3
  • 32
    • 0031753978 scopus 로고    scopus 로고
    • Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family
    • T. Ohata, A. Koizumi, and T. Kayo Evidence of an increased risk of hearing loss in heterozygous carriers in a Wolfram syndrome family Hum Genet 103 1998 470 474
    • (1998) Hum Genet , vol.103 , pp. 470-474
    • Ohata, T.1    Koizumi, A.2    Kayo, T.3
  • 33
    • 0028822208 scopus 로고
    • Morbidity and mortality in the Wolfram syndrome
    • B.T. Kinsley, M. Swift, and R.H. Dumont Morbidity and mortality in the Wolfram syndrome Diabetes Care 18 1995 1566 1570
    • (1995) Diabetes Care , vol.18 , pp. 1566-1570
    • Kinsley, B.T.1    Swift, M.2    Dumont, R.H.3
  • 34
    • 17344362695 scopus 로고    scopus 로고
    • A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome)
    • H. Inoue, Y. Tanizawa, and J. Wasson A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) Nat Genet 20 1998 143 148
    • (1998) Nat Genet , vol.20 , pp. 143-148
    • Inoue, H.1    Tanizawa, Y.2    Wasson, J.3
  • 35
    • 0031761895 scopus 로고    scopus 로고
    • Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein
    • T.M. Strom, K. Hortnagel, and S. Hofmann Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (wolframin) coding for a predicted transmembrane protein Hum Mol Genet 7 1998 2021 2028
    • (1998) Hum Mol Genet , vol.7 , pp. 2021-2028
    • Strom, T.M.1    Hortnagel, K.2    Hofmann, S.3
  • 36
    • 0033942396 scopus 로고    scopus 로고
    • Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q
    • H. El-Shanti, A.C. Lidral, and N. Jarrah Homozygosity mapping identifies an additional locus for Wolfram syndrome on chromosome 4q Am J Hum Genet 66 2000 1229 1236
    • (2000) Am J Hum Genet , vol.66 , pp. 1229-1236
    • El-Shanti, H.1    Lidral, A.C.2    Jarrah, N.3
  • 37
    • 0035032066 scopus 로고    scopus 로고
    • WFS1/wolframin mutations, Wolfram syndrome, and associated diseases
    • F. Khanim, J. Kirk, and F. Latif WFS1/wolframin mutations, Wolfram syndrome, and associated diseases Hum Mutat 17 2001 357 367
    • (2001) Hum Mutat , vol.17 , pp. 357-367
    • Khanim, F.1    Kirk, J.2    Latif, F.3
  • 38
    • 0026906885 scopus 로고
    • Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
    • J.M. van den Ouweland, H.H. Lemkes, and W. Ruitenbeek Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness Nat Genet 1 1992 368 371
    • (1992) Nat Genet , vol.1 , pp. 368-371
    • Van Den Ouweland, J.M.1    Lemkes, H.H.2    Ruitenbeek, W.3
  • 39
    • 0035341093 scopus 로고    scopus 로고
    • Maternally inherited diabetes and deafness: A multicenter study
    • P.J. Guillausseau, P. Massin, and D. Dubois-LaForgue Maternally inherited diabetes and deafness: a multicenter study Ann Intern Med 134 9 Pt 1 2001 721 728
    • (2001) Ann Intern Med , vol.134 , Issue.9 PART 1 , pp. 721-728
    • Guillausseau, P.J.1    Massin, P.2    Dubois-Laforgue, D.3
  • 40
    • 0026795527 scopus 로고
    • Melas: An original case and clinical criteria for diagnosis
    • M. Hirano, E. Ricci, and M.R. Koenigsberger Melas: an original case and clinical criteria for diagnosis Neuromuscul Disord 2 1992 125 135
    • (1992) Neuromuscul Disord , vol.2 , pp. 125-135
    • Hirano, M.1    Ricci, E.2    Koenigsberger, M.R.3
  • 41
    • 0024590185 scopus 로고
    • Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome
    • A. Rotig, M. Colonna, and J.P. Bonnefont Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome Lancet 1 1989 902 903
    • (1989) Lancet , vol.1 , pp. 902-903
    • Rotig, A.1    Colonna, M.2    Bonnefont, J.P.3
  • 42
    • 0032783588 scopus 로고    scopus 로고
    • Diagnosis, screening and management of cystic fibrosis related diabetes mellitus: A consensus conference report
    • A. Moran, D. Hardin, and D. Rodman Diagnosis, screening and management of cystic fibrosis related diabetes mellitus: a consensus conference report Diabetes Res Clin Pract 45 1999 61 73
    • (1999) Diabetes Res Clin Pract , vol.45 , pp. 61-73
    • Moran, A.1    Hardin, D.2    Rodman, D.3
  • 44
    • 0032191856 scopus 로고    scopus 로고
    • Insulin action and insulin resistance: Diseases involving defects in insulin receptors, signal transduction, and the glucose transport effector system
    • S.J. Hunter, and W.T. Garvey Insulin action and insulin resistance: diseases involving defects in insulin receptors, signal transduction, and the glucose transport effector system Am J Med 105 1998 331 345
    • (1998) Am J Med , vol.105 , pp. 331-345
    • Hunter, S.J.1    Garvey, W.T.2
  • 45
    • 0027301401 scopus 로고
    • Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism
    • A. Krook, L. Brueton, and S. O'Rahilly Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism Lancet 342 1993 277 278
    • (1993) Lancet , vol.342 , pp. 277-278
    • Krook, A.1    Brueton, L.2    O'Rahilly, S.3
  • 46
    • 71749092573 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in inherited severe insulin resistance
    • N. Longo, Y. Wang, and S.A. Smith Genotype-phenotype correlation in inherited severe insulin resistance Hum Mol Genet 11 2002 1465 1475
    • (2002) Hum Mol Genet , vol.11 , pp. 1465-1475
    • Longo, N.1    Wang, Y.2    Smith, S.A.3
  • 47
    • 0033328136 scopus 로고    scopus 로고
    • Progressive decline in insulin levels in Rabson-Mendenhall syndrome
    • N. Longo, Y. Wang, and M. Pasquali Progressive decline in insulin levels in Rabson-Mendenhall syndrome J Clin Endocrinol Metab 84 1999 2623 2629
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 2623-2629
    • Longo, N.1    Wang, Y.2    Pasquali, M.3
  • 48
    • 3242714887 scopus 로고    scopus 로고
    • Clinical course of genetic diseases of the insulin receptor (type a and Rabson-Mendenhall syndromes): A 30-year prospective
    • C. Musso, E. Cochran, and S.A. Moran Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective Medicine (Baltimore) 83 2004 209 222
    • (2004) Medicine (Baltimore) , vol.83 , pp. 209-222
    • Musso, C.1    Cochran, E.2    Moran, S.A.3
  • 49
    • 0037363594 scopus 로고    scopus 로고
    • Lipoatrophic diabetes and other related syndromes
    • E.A. Oral Lipoatrophic diabetes and other related syndromes Rev Endocr Metab Disord 4 2003 61 77
    • (2003) Rev Endocr Metab Disord , vol.4 , pp. 61-77
    • Oral, E.A.1
  • 50
    • 0033016192 scopus 로고    scopus 로고
    • Extremely low values of serum leptin in children with congenital generalized lipoatrophy
    • D. Jaquet, E. Khallouf, and C. Levy-Marchal Extremely low values of serum leptin in children with congenital generalized lipoatrophy Eur J Endocrinol 140 1999 107 109
    • (1999) Eur J Endocrinol , vol.140 , pp. 107-109
    • Jaquet, D.1    Khallouf, E.2    Levy-Marchal, C.3
  • 51
    • 0031932459 scopus 로고    scopus 로고
    • Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22
    • J.M. Peters, R. Barnes, and L. Bennett Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22 Nat Genet 18 1998 292 295
    • (1998) Nat Genet , vol.18 , pp. 292-295
    • Peters, J.M.1    Barnes, R.2    Bennett, L.3
  • 52
    • 0034059075 scopus 로고    scopus 로고
    • Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
    • H. Cao, and R.A. Hegele Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy Hum Mol Genet 9 2000 109 112
    • (2000) Hum Mol Genet , vol.9 , pp. 109-112
    • Cao, H.1    Hegele, R.A.2
  • 53
    • 0032959251 scopus 로고    scopus 로고
    • Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety)
    • A. Garg, R.M. Peshock, and J.L. Fleckenstein Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety) J Clin Endocrinol Metab 84 1999 170 174
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 170-174
    • Garg, A.1    Peshock, R.M.2    Fleckenstein, J.L.3
  • 54
    • 0034455698 scopus 로고    scopus 로고
    • Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety)
    • A. Garg Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety) J Clin Endocrinol Metab 85 2000 1776 1782
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 1776-1782
    • Garg, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.