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Volumn 41, Issue 2, 2004, Pages 92-98

Mulibrey nanism: Clinical features and diagnostic criteria

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; TRIM37 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

EID: 1242269844     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2003.014118     Document Type: Review
Times cited : (67)

References (29)
  • 1
    • 0014899272 scopus 로고
    • Mulibrey nanism: Dwarfism with muscle, liver, brain and eye involvement
    • Perheentupa J, Autio S, Leisti S, Tuuteri L, Raitta C. Mulibrey nanism: dwarfism with muscle, liver, brain and eye involvement. Acta Pediatr Scand 1970;59(Suppl 206):74-5.
    • (1970) Acta Pediatr Scand , vol.59 , Issue.206 SUPPL. , pp. 74-75
    • Perheentupa, J.1    Autio, S.2    Leisti, S.3    Tuuteri, L.4    Raitta, C.5
  • 2
    • 0015845730 scopus 로고
    • Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction
    • Perheentupa J, Autio S, Leisti S, Raitta C, Tuuteri L. Mulibrey nanism, an autosomal recessive syndrome with pericardial constriction. Lancet 1973;2:351-55.
    • (1973) Lancet , vol.2 , pp. 351-355
    • Perheentupa, J.1    Autio, S.2    Leisti, S.3    Raitta, C.4    Tuuteri, L.5
  • 3
    • 0015939067 scopus 로고
    • So-called Mulibrey nanism with pericardial constriction
    • Thoren C. So-called Mulibrey nanism with pericardial constriction. Lancet 1973;29:731.
    • (1973) Lancet , vol.29 , pp. 731
    • Thoren, C.1
  • 4
    • 0017257594 scopus 로고
    • Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism)
    • Cumming GR, Kerr D, Ferguson CC. Constrictive pericarditis with dwarfism in two siblings (mulibrey nanism). J Pediatr 1976;88:569-72.
    • (1976) J Pediatr , vol.88 , pp. 569-572
    • Cumming, G.R.1    Kerr, D.2    Ferguson, C.C.3
  • 5
    • 0017109094 scopus 로고
    • Growth failure with pericardial constriction. The syndrome mulibrey nanism
    • Voorhess ML, Husson GS, Blackman MS. Growth failure with pericardial constriction. The syndrome mulibrey nanism. Am J Dis Child 1976;130:1146-8.
    • (1976) Am J Dis Child , vol.130 , pp. 1146-1148
    • Voorhess, M.L.1    Husson, G.S.2    Blackman, M.S.3
  • 6
    • 0018833975 scopus 로고
    • A case of mulibrey nanism with associated Wilms' tumor
    • Similä S, Timonen M, Heikkinen E. A case of mulibrey nanism with associated Wilms' tumor. Clin Genet 1980;17:29-30.
    • (1980) Clin Genet , vol.17 , pp. 29-30
    • Similä, S.1    Timonen, M.2    Heikkinen, E.3
  • 8
    • 0024228827 scopus 로고
    • Familial intrauterine nanism with constrictive pericarditis, the MuLiBrEy syndrome
    • Cotton JB, Rebelle C, Boiso A, Ladreyt-Ponchon JP, Maillet J. Familial intrauterine nanism with constrictive pericarditis, the MuLiBrEy syndrome. Pediatrie 1988;43:197-203.
    • (1988) Pediatrie , vol.43 , pp. 197-203
    • Cotton, J.B.1    Rebelle, C.2    Boiso, A.3    Ladreyt-Ponchon, J.P.4    Maillet, J.5
  • 11
    • 0033516621 scopus 로고    scopus 로고
    • Mulibrey nanism and Wilms' tumor
    • Seemanova E, Bartsch O. Mulibrey nanism and Wilms' tumor. Am J Med Genet 1999;85:76-8.
    • (1999) Am J Med Genet , vol.85 , pp. 76-78
    • Seemanova, E.1    Bartsch, O.2
  • 12
    • 0037565126 scopus 로고    scopus 로고
    • A novel splice site mutation in the TRIM37 gene causes Mulibrey nanism in a Turkish family with phenotypic heterogeneity
    • Jagiello P, Hammans C, Wieczorek S, Arning L, Stefanski A, Strehl H, Epplen JT, Gencik M. A novel splice site mutation in the TRIM37 gene causes Mulibrey nanism in a Turkish family with phenotypic heterogeneity. Hum Mut 2003;21:630-35.
    • (2003) Hum Mut , vol.21 , pp. 630-635
    • Jagiello, P.1    Hammans, C.2    Wieczorek, S.3    Arning, L.4    Stefanski, A.5    Strehl, H.6    Epplen, J.T.7    Gencik, M.8
  • 14
    • 0034824630 scopus 로고    scopus 로고
    • Expression of MUL, a gene encoding a novel RBCC family ring-finger protein, in human and mouse embryogenesis
    • Lehesjoki AE, Reed VA, Mark Gardiner R, Greene ND. Expression of MUL, a gene encoding a novel RBCC family ring-finger protein, in human and mouse embryogenesis. Mech Dev 2001;108:221-5.
    • (2001) Mech Dev , vol.108 , pp. 221-225
    • Lehesjoki, A.E.1    Reed, V.A.2    Mark Gardiner, R.3    Greene, N.D.4
  • 15
    • 0036235857 scopus 로고    scopus 로고
    • The TRIM37 gene encodes a peroxisomal RING-B-box-Coiled-coil protein: Classification of mulibrey nanism as a new peroxisomal disorder
    • Kallijärvi J, Avela K, Lipsanen-Nyman M, Ulmanen I, Lehesjoki AE. The TRIM37 gene encodes a peroxisomal RING-B-box-Coiled-coil protein: Classification of mulibrey nanism as a new peroxisomal disorder. Am J Hum Genet 2002;70:1215-28.
    • (2002) Am J Hum Genet , vol.70 , pp. 1215-1228
    • Kallijärvi, J.1    Avela, K.2    Lipsanen-Nyman, M.3    Ulmanen, I.4    Lehesjoki, A.E.5
  • 16
    • 0016000977 scopus 로고
    • Mulibrey nanism; an inherited dysmorphic syndrome with characteristic ocular findings
    • Raitto C, Perheentupa J. Mulibrey nanism; an inherited dysmorphic syndrome with characteristic ocular findings. Acta Ophtalmol Suppl 1974;123:162-71.
    • (1974) Acta Ophtalmol Suppl , vol.123 , pp. 162-171
    • Raitto, C.1    Perheentupa, J.2
  • 18
    • 0027991692 scopus 로고
    • Natural growth in children born small for gestational age with and without catch-up growth
    • Albertsson-Wikland K, Karlberg J. Natural growth in children born small for gestational age with and without catch-up growth. Acta Pediatr 1994;83(Suppl 399):64-70.
    • (1994) Acta Pediatr , vol.83 , Issue.399 SUPPL. , pp. 64-70
    • Albertsson-Wikland, K.1    Karlberg, J.2
  • 20
    • 0017799416 scopus 로고
    • Phenotypic and genetic analysis of the Silver-Russell syndrome
    • Escobar V, Gleiser S, Weaver DD. Phenotypic and genetic analysis of the Silver-Russell syndrome. Clin Genet 1978;13:278-88.
    • (1978) Clin Genet , vol.13 , pp. 278-288
    • Escobar, V.1    Gleiser, S.2    Weaver, D.D.3
  • 21
    • 0032758850 scopus 로고    scopus 로고
    • The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria
    • Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet 1999;36:837-42.
    • (1999) J Med Genet , vol.36 , pp. 837-842
    • Price, S.M.1    Stanhope, R.2    Garrett, C.3    Preece, M.A.4    Trembath, R.C.5
  • 22
    • 0035058522 scopus 로고    scopus 로고
    • Do patients with maternal uniparenteral disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?
    • Hannula K, Kere J, Pirinen S, Holmberg C, Lipsanen-Nyman M. Do patients with maternal uniparenteral disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? J Med Genet 2001;38:273-8.
    • (2001) J Med Genet , vol.38 , pp. 273-278
    • Hannula, K.1    Kere, J.2    Pirinen, S.3    Holmberg, C.4    Lipsanen-Nyman, M.5
  • 23
    • 0035662379 scopus 로고    scopus 로고
    • Silver-Russell syndrome: A dissection of the genetic aetiology and candidate chromosomal regions
    • Hitchins MP, Stainer P, Preece MA, Moore GE. Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. J Med Genet 2001;38:810-19.
    • (2001) J Med Genet , vol.38 , pp. 810-819
    • Hitchins, M.P.1    Stainer, P.2    Preece, M.A.3    Moore, G.E.4
  • 25
    • 0016221773 scopus 로고
    • The cardiopathy of mulibrey nanism, a new inherited syndrome
    • Tuuteri L, Perheentupa J, Rapola J. The cardiopathy of mulibrey nanism, a new inherited syndrome. Chest 1974;65:628-31.
    • (1974) Chest , vol.65 , pp. 628-631
    • Tuuteri, L.1    Perheentupa, J.2    Rapola, J.3
  • 26
    • 0038120005 scopus 로고    scopus 로고
    • Mulibrey heart disease: Clinical manifestations, long-term course and results of pericardiectomy in a series of 49 patients born before 1985
    • Lipsanen-Nyman M, Perheentupa J, Rapola J, Sovijärvi A, Kupari M. Mulibrey heart disease: Clinical manifestations, long-term course and results of pericardiectomy in a series of 49 patients born before 1985. Circulation 2003;107:2810-15.
    • (2003) Circulation , vol.107 , pp. 2810-2815
    • Lipsanen-Nyman, M.1    Perheentupa, J.2    Rapola, J.3    Sovijärvi, A.4    Kupari, M.5
  • 27
    • 0023739312 scopus 로고
    • Dysfunctional swallowing in the pediatric patient: Clinical considerations
    • Tuchman DN. Dysfunctional swallowing in the pediatric patient: clinical considerations. Dysphagia 1988;2:203-8.
    • (1988) Dysphagia , vol.2 , pp. 203-208
    • Tuchman, D.N.1
  • 28
    • 0025695727 scopus 로고
    • Coordination of sucking, swallowing and breathing in the newborn: Its relationship to infant feeding and normal development
    • Selley WG, Ellis RE, Brooks WA. Coordination of sucking, swallowing and breathing in the newborn: its relationship to infant feeding and normal development. Br J Disord Commun 1990;25:311-27.
    • (1990) Br J Disord Commun , vol.25 , pp. 311-327
    • Selley, W.G.1    Ellis, R.E.2    Brooks, W.A.3
  • 29
    • 0025984431 scopus 로고
    • The development of normal feeding and swallowing
    • Stevenson RD, Allaire JH. The development of normal feeding and swallowing. Pediatr Clin North Am 1991;38:1439-53.
    • (1991) Pediatr Clin North Am , vol.38 , pp. 1439-1453
    • Stevenson, R.D.1    Allaire, J.H.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.