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Volumn 278, Issue 3, 2008, Pages 201-208

Restrictive dermopathy: A rare laminopathy

Author keywords

Foetal akinesia deformation sequence; Laminopathy; Restrictive dermopathy

Indexed keywords

ADULT; AKINESIA; CASE REPORT; CHROMOSOME ANALYSIS; ELECTRON MICROSCOPY; FEMALE; GENETIC ANALYSIS; HUMAN; KERATINIZATION; LUNG HYPOPLASIA; POLYMERASE CHAIN REACTION; RADIODIAGNOSIS; REVIEW; SKIN DISEASE;

EID: 48349133851     PISSN: 09320067     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00404-008-0676-6     Document Type: Review
Times cited : (22)

References (48)
  • 1
    • 0041919374 scopus 로고    scopus 로고
    • Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia
    • AK Agarwal JP Fryns RJ Auchus A Garg 2003 Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia Hum Mol Genet 12 1995 2001
    • (2003) Hum Mol Genet , vol.12 , pp. 1995-2001
    • Agarwal, A.K.1    Fryns, J.P.2    Auchus, R.J.3    Garg, A.4
  • 2
    • 18544363779 scopus 로고    scopus 로고
    • Restrictive dermopathy associated with transposition of the great arteries and microcolon
    • S Armbrust R Hoffmann F Jochum LM Neumann C Fusch 2005 Restrictive dermopathy associated with transposition of the great arteries and microcolon Arch Dermatol 141 611 613
    • (2005) Arch Dermatol , vol.141 , pp. 611-613
    • Armbrust, S.1    Hoffmann, R.2    Jochum, F.3    Neumann, L.M.4    Fusch, C.5
  • 15
    • 0023153888 scopus 로고
    • Arrested epidermal morphogenesis in three newborn infants with fatal genetic disorder (restrictive dermopathy)
    • KA Holbrook BA Dale DR Witt MR Hayden HV Toriello 1987 Arrested epidermal morphogenesis in three newborn infants with fatal genetic disorder (restrictive dermopathy) J Invest Dermatol 88 330 339
    • (1987) J Invest Dermatol , vol.88 , pp. 330-339
    • Holbrook, K.A.1    Dale, B.A.2    Witt, D.R.3    Hayden, M.R.4    Toriello, H.V.5
  • 16
    • 0141537299 scopus 로고    scopus 로고
    • Restrictive dermopathy in two sisters
    • J-W Hou M Chien-Fang 2003 Restrictive dermopathy in two sisters Chang Gung Med J 7 510 513
    • (2003) Chang Gung Med J , vol.7 , pp. 510-513
    • Hou, J.-W.1    Chien-Fang, M.2
  • 17
    • 33645116283 scopus 로고    scopus 로고
    • Laminopathies: Multisystem dystrophy syndromes
    • KN Jacob A Garg 2006 Laminopathies: multisystem dystrophy syndromes Mol Genet Metabol 87 289 302
    • (2006) Mol Genet Metabol , vol.87 , pp. 289-302
    • Jacob, K.N.1    Garg, A.2
  • 18
    • 0027378729 scopus 로고
    • Historical note on restrictive dermopathy and report of two new cases
    • W Lenz D Meschede 1993 Historical note on restrictive dermopathy and report of two new cases Am J Med Genet 47 1235 1237
    • (1993) Am J Med Genet , vol.47 , pp. 1235-1237
    • Lenz, W.1    Meschede, D.2
  • 19
    • 0022388841 scopus 로고
    • Congenital contractures, edema, hyperkeratosis and IUGR: A fatal syndrome in Hutterite and Mennonite kindreds
    • RB Lowry GA Machin K Morgan L Marx 1985 Congenital contractures, edema, hyperkeratosis and IUGR: a fatal syndrome in Hutterite and Mennonite kindreds Am J Med Genet 22 531 543
    • (1985) Am J Med Genet , vol.22 , pp. 531-543
    • Lowry, R.B.1    MacHin, G.A.2    Morgan, K.3    Marx, L.4
  • 31
    • 33748760066 scopus 로고    scopus 로고
    • Farnesylated lamins, progeroid syndromes and farnesyl transferase inhibitors
    • Rusinol AE, Sinensky MS (2006) Farnesylated lamins, progeroid syndromes and farnesyl transferase inhibitors. J Cell Sci 119(Pt16):3265-3272
    • (2006) J Cell Sci , vol.119 , Issue.PART 16 , pp. 3265-3272
    • Rusinol, A.E.1    Sinensky, M.S.2
  • 33
    • 0035080120 scopus 로고    scopus 로고
    • Restrictive dermopathy: Case report, subject review with Kaplan-Meier analysis, and differential diagnosis of the lethal congenital contractural syndromes
    • 1
    • C Sergi J Poeschl M Graf O Linderkamp 2001 Restrictive dermopathy: case report, subject review with Kaplan-Meier analysis, and differential diagnosis of the lethal congenital contractural syndromes Am J Perinatol 18 1 39 47
    • (2001) Am J Perinatol , vol.18 , pp. 39-47
    • Sergi, C.1    Poeschl, J.2    Graf, M.3    Linderkamp, O.4
  • 35
    • 0029778556 scopus 로고    scopus 로고
    • Signal-mediated sorting of membrane proteins between the endoplasmic reticulum and the Golgi apparatus
    • RD Teasdale MR Jackson 1996 Signal-mediated sorting of membrane proteins between the endoplasmic reticulum and the Golgi apparatus Annu Rev Cell Dev Biol 12 27 54
    • (1996) Annu Rev Cell Dev Biol , vol.12 , pp. 27-54
    • Teasdale, R.D.1    Jackson, M.R.2
  • 36
    • 7444224030 scopus 로고    scopus 로고
    • Lethal arthrogryposis with ichtiosis: Overlap with Neu-Laxova syndrome, restrictive dermopathy and harlequin fetus
    • 2
    • S Thakur L Pal SR Phadke 2004 Lethal arthrogryposis with ichtiosis: overlap with Neu-Laxova syndrome, restrictive dermopathy and harlequin fetus Clin Dysmorphol 13 2 117 119
    • (2004) Clin Dysmorphol , vol.13 , pp. 117-119
    • Thakur, S.1    Pal, L.2    Phadke, S.R.3
  • 37
    • 0020759551 scopus 로고
    • Autosomal recessive aplasia cutis congenita: A report of two affected sibs
    • HV Toriello JV Higgins DF Waterman 1983 Autosomal recessive aplasia cutis congenita: a report of two affected sibs Am J Med Genet 15 153 156
    • (1983) Am J Med Genet , vol.15 , pp. 153-156
    • Toriello, H.V.1    Higgins, J.V.2    Waterman, D.F.3
  • 38
    • 0022762394 scopus 로고
    • Invited editorial comment: Restrictive dermopathy and report of another case
    • HV Toriello 1986 Invited editorial comment: restrictive dermopathy and report of another case Am J Med Genet 24 625 629
    • (1986) Am J Med Genet , vol.24 , pp. 625-629
    • Toriello, H.V.1
  • 41
    • 0026780634 scopus 로고
    • Restrictive dermopathy, a letal form of arthogryposis multiplex with skin and bone dysplasias: Three new cases and review of literature
    • A Verloes N Mulliez M Gonzales F Laloux T Hermanns-Le GE Piérard L Koulischer 1992 Restrictive dermopathy, a letal form of arthogryposis multiplex with skin and bone dysplasias: three new cases and review of literature Am J Med Genet 43 539 547
    • (1992) Am J Med Genet , vol.43 , pp. 539-547
    • Verloes, A.1    Mulliez, N.2    Gonzales, M.3    Laloux, F.4    Hermanns-Le, T.5    Piérard, G.E.6    Koulischer, L.7
  • 43
    • 0026555156 scopus 로고
    • Restrictive dermopathy: Report of two affected siblings and a review of literature
    • KM Welsh BR Smoller KA Kolbrook K Johnston 1992 Restrictive dermopathy: report of two affected siblings and a review of literature Arch Dermatol 128 228 231
    • (1992) Arch Dermatol , vol.128 , pp. 228-231
    • Welsh, K.M.1    Smoller, B.R.2    Kolbrook, K.A.3    Johnston, K.4
  • 45
    • 0026549893 scopus 로고
    • Detecting single base substitutions as heteroduplex polymorphisms
    • MB White M Carvalho D Derse SJ O'Brien M Dean 1986 Detecting single base substitutions as heteroduplex polymorphisms Genomics 12 301 306
    • (1986) Genomics , vol.12 , pp. 301-306
    • White, M.B.1    Carvalho, M.2    Derse, D.3    O'Brien, S.J.4    Dean, M.5
  • 47
    • 0037110998 scopus 로고    scopus 로고
    • Fetal akinesia deformation sequence: A study of 30 consecutive in utero diagnoses
    • I Witters P Moerman JP Fryns 2002 Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses Am J Med Genet 113 23 28
    • (2002) Am J Med Genet , vol.113 , pp. 23-28
    • Witters, I.1    Moerman, P.2    Fryns, J.P.3
  • 48
    • 33845998966 scopus 로고    scopus 로고
    • Prelamin a farnesylation and progeroid syndromes
    • 52
    • SG Young M Meta SH Yang LG Fong 2006 Prelamin A farnesylation and progeroid syndromes J Biol Chem 281 52 39741 39745
    • (2006) J Biol Chem , vol.281 , pp. 39741-39745
    • Young, S.G.1    Meta, M.2    Yang, S.H.3    Fong, L.G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.