메뉴 건너뛰기




Volumn 67, Issue 3, 2007, Pages 105-110

Proximal 19q trisomy: A new syndrome of morbid obesity and mental retardation

Author keywords

Comparative genomic hybridization; Fluorescence in situ hybridization; Mental retardation; Obesity; Trisomy

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; FLUORESCENCE IN SITU HYBRIDIZATION; FOLLOW UP; HUMAN; INSULIN RESISTANCE; INSULIN SENSITIVITY; KARYOTYPING; MALE; MENTAL DEFICIENCY; MORBIDITY; OBESITY; PARTIAL TRISOMY 19; POLYSOMNOGRAPHY; PRIORITY JOURNAL; SYNDROME; TRISOMY;

EID: 33847659545     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000096419     Document Type: Article
Times cited : (24)

References (23)
  • 1
    • 0030830035 scopus 로고    scopus 로고
    • Prader-Willi and other syndromes associated with obesity and mental retardation
    • Gunay-Aygun M, Cassidy SB, Nicholls RD: Prader-Willi and other syndromes associated with obesity and mental retardation. Behav Genet 1997;27:307-324.
    • (1997) Behav Genet , vol.27 , pp. 307-324
    • Gunay-Aygun, M.1    Cassidy, S.B.2    Nicholls, R.D.3
  • 3
    • 0028111398 scopus 로고
    • Molecular diagnosis of Prader-Willi syndrome: Parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphism
    • Lerer I, Meiner V, Pashut-Lavon I, Abeliovich D: Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphism. Am J Med Genet 1994;52:79-84.
    • (1994) Am J Med Genet , vol.52 , pp. 79-84
    • Lerer, I.1    Meiner, V.2    Pashut-Lavon, I.3    Abeliovich, D.4
  • 4
    • 0033062278 scopus 로고    scopus 로고
    • New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey
    • Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA: New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999;36:437-446.
    • (1999) J Med Genet , vol.36 , pp. 437-446
    • Beales, P.L.1    Elcioglu, N.2    Woolf, A.S.3    Parker, D.4    Flinter, F.A.5
  • 5
    • 0035425580 scopus 로고    scopus 로고
    • Cohen syndrome: Essential features, natural history, and heterogeneity
    • Kivitie-Kallio S, Norio R: Cohen syndrome: essential features, natural history, and heterogeneity. Am J Med Genet 2001;102:125-135.
    • (2001) Am J Med Genet , vol.102 , pp. 125-135
    • Kivitie-Kallio, S.1    Norio, R.2
  • 6
    • 0027058482 scopus 로고
    • Interstitial deletion and ring chromosome derived from 19q. Proximal 19q trisomy phenotype
    • Quack B, Van Roy N, Verschraegen-Spae MR, Klein F: Interstitial deletion and ring chromosome derived from 19q. Proximal 19q trisomy phenotype. Ann Genet 1992;35:241-244.
    • (1992) Ann Genet , vol.35 , pp. 241-244
    • Quack, B.1    Van Roy, N.2    Verschraegen-Spae, M.R.3    Klein, F.4
  • 7
    • 0031737373 scopus 로고    scopus 로고
    • Correct homeostasis model assessment (HOMA) evaluation uses the computer program
    • Levy JC, Matthews DR, Hermans MP: Correct homeostasis model assessment (HOMA) evaluation uses the computer program. Diabetes Care 1998;21:2191-2192.
    • (1998) Diabetes Care , vol.21 , pp. 2191-2192
    • Levy, J.C.1    Matthews, D.R.2    Hermans, M.P.3
  • 8
    • 0034456568 scopus 로고    scopus 로고
    • Quantitative Insulin Sensitivity Check Index: A simple, accurate method for assessing insulin sensitivity in humans
    • Katz A, Nambi SS, Mather K, Baron AD, Follmann DA, Sullivan G, Quon MJ: Quantitative Insulin Sensitivity Check Index: a simple, accurate method for assessing insulin sensitivity in humans. J Clin Endocrinol Metab 2000;85:2402-2410.
    • (2000) J Clin Endocrinol Metab , vol.85 , pp. 2402-2410
    • Katz, A.1    Nambi, S.S.2    Mather, K.3    Baron, A.D.4    Follmann, D.A.5    Sullivan, G.6    Quon, M.J.7
  • 9
    • 0021813187 scopus 로고
    • Homeostasis model assessment: Insulin resistance and β-cell function from fasting plasma glucose and insulin concentrations in man
    • Matthews DR, Hosker JP, Rudenski AS, Naylor BA, Treacher DF, Turner RC: Homeostasis model assessment: insulin resistance and β-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 1985;28:412-419.
    • (1985) Diabetologia , vol.28 , pp. 412-419
    • Matthews, D.R.1    Hosker, J.P.2    Rudenski, A.S.3    Naylor, B.A.4    Treacher, D.F.5    Turner, R.C.6
  • 10
    • 0036148469 scopus 로고    scopus 로고
    • Detection of insulin resistance by simple quantitative insulin sensitivity check index QUICKI for epidemiological assessment and prevention
    • Hrebicek J, Janout V, Malincikova J, Horakova D, Cizek L: Detection of insulin resistance by simple quantitative insulin sensitivity check index QUICKI for epidemiological assessment and prevention. J Clin Endocrinol Metab 2002;87:144-147.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 144-147
    • Hrebicek, J.1    Janout, V.2    Malincikova, J.3    Horakova, D.4    Cizek, L.5
  • 13
    • 0018306284 scopus 로고
    • Trisomy for the distal third of the long arm of chromosome 19 in brother and sister
    • Schmid W: Trisomy for the distal third of the long arm of chromosome 19 in brother and sister. Hum Genet 1979;46:263-270.
    • (1979) Hum Genet , vol.46 , pp. 263-270
    • Schmid, W.1
  • 14
    • 7944220886 scopus 로고
    • Trisomy 19qter associated with partial trisomy 22q in two members of the same family. Analysis using the thymidine and RBA banding techniques
    • abstract, Jerusalem
    • Pangalos A, Ghica M, Couturier J: Trisomy 19qter associated with partial trisomy 22q in two members of the same family. Analysis using the thymidine and RBA banding techniques; in Proceedings of the 6th International Congress of Human Genetics (abstract). Jerusalem, 1981, p 171.
    • (1981) Proceedings of the 6th International Congress of Human Genetics , pp. 171
    • Pangalos, A.1    Ghica, M.2    Couturier, J.3
  • 17
    • 0023925093 scopus 로고
    • Partial trisomy for 19q due to paternal 17/19 reciprocal translocation
    • Madokoro H, Ohdo S, Sonodo T, Kawaguchi K, Ohba K: Partial trisomy for 19q due to paternal 17/19 reciprocal translocation. Jpn J Hum Genet 1988;33:61-65.
    • (1988) Jpn J Hum Genet , vol.33 , pp. 61-65
    • Madokoro, H.1    Ohdo, S.2    Sonodo, T.3    Kawaguchi, K.4    Ohba, K.5
  • 19
    • 0027165007 scopus 로고
    • A new case of partial trisomy 19q (q13.2-qter) owing to an unusual maternal translocation
    • Valerio D, Lavorgna F, Scalona M, Conte A: A new case of partial trisomy 19q (q13.2-qter) owing to an unusual maternal translocation. J Med Genet 1993;30:697-699.
    • (1993) J Med Genet , vol.30 , pp. 697-699
    • Valerio, D.1    Lavorgna, F.2    Scalona, M.3    Conte, A.4
  • 22
    • 0036316114 scopus 로고    scopus 로고
    • Chromosome localization analysis of genes strongly expressed in human visceral adipose tissue
    • Yang YS, Song HD, Shi WJ, Hu RM, Han ZG, Chen JL: Chromosome localization analysis of genes strongly expressed in human visceral adipose tissue. Endocrine 2002;18:57-66.
    • (2002) Endocrine , vol.18 , pp. 57-66
    • Yang, Y.S.1    Song, H.D.2    Shi, W.J.3    Hu, R.M.4    Han, Z.G.5    Chen, J.L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.