SCOPUS 정보 검색 플랫폼

Indian Pediatrics

Volumn 46, Issue 4, 2009, Pages 349-351

Prenatal diagnosis of restrictive dermopathy

(4) Jagadeesh, Sujatha a,b Bhat, Lathaa a Suresh, Indrani a Muralidhar, S Lata a

a MediScan ^* (India)

b Fetal Care Research Foundation (India)

Author keywords

India; Mutation; Prenatal diagnosis; Restrictive dermopathy

Indexed keywords

ARTICLE; BONE RADIOGRAPHY; CASE REPORT; CHORION VILLUS SAMPLING; CLAVICLE; CONTRACTURE; DIAGNOSTIC VALUE; EYE MALFORMATION; FEMALE; FETUS; GENE MUTATION; GENETIC COUNSELING; GESTATIONAL AGE; HETEROZYGOTE DETECTION; HUMAN; HYPOPLASIA; MICROPHTHALMIA; MICROSTOMIA; NEWBORN; NEWBORN DEATH; PRENATAL DIAGNOSIS; RESTRICTIVE DERMOPATHY; SKIN MANIFESTATION; SMALL FOR DATE INFANT;

CONTRACTURE; FEMALE; GENETIC SCREENING; HUMANS; INFANT, NEWBORN; MEMBRANE PROTEINS; METALLOENDOPEPTIDASES; MUTATION; PRENATAL DIAGNOSIS; SKIN ABNORMALITIES;

EID: 66249102300 PISSN: 00196061 EISSN: 00196061 Source Type: Journal
DOI: None Document Type: Article

Times cited : (14)

References (5)

1
- 0026780634
- Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: Three new cases and review of the literature
- Verloes A, Mulliez N, Gonzales M, Laloux F, Hermanns-Le T, Pierard GE, et al. Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: three new cases and review of the literature. Am J Med Genet 1992; 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 Pierard, G.E.⁶

2
- 0027043218
- False negative prenatal diagnosis of restrictive dermopathy
- Hamel BCJ, Happle R, Steylen PM, Kollee LAA, Schuurmans Stekhoven JH, Nijhuis JG, et al. False negative prenatal diagnosis of restrictive dermopathy. Am J Med Genet 1992; 44: 824-826.
- (1992) Am J Med Genet , vol.44 , pp. 824-826
- Hamel, B.C.J.¹ Happle, R.² Steylen, P.M.³ Kollee, L.A.A.⁴ Schuurmans Stekhoven, J.H.⁵ Nijhuis, J.G.⁶

3
- 0003827164
- Philadelphia: Lippincort Williams & Wilkins
- Elder DE, Elenitsas R, Johnson BL, Murphy GF. Lever's Histopatholgy of Skin. 9th ed. Philadelphia: Lippincort Williams & Wilkins; 2004.
- (2004) Lever's Histopatholgy of Skin. 9th Ed.
- Elder, D.E.¹ Elenitsas, R.² Johnson, B.L.³ Murphy, G.F.⁴

4
- 20444506041
- Lamin and ZMPSTE 24 (Face-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy
- Navarro CL, Cadiñanos J, De Sandre-Giovannoli A, Bernard R, Courrier S, Boccaccio I, et al. Lamin and ZMPSTE 24 (Face-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Molec Genet 2005; 14: 1503-1513.
- (2005) Hum Molec Genet , vol.14 , pp. 1503-1513
- Navarro, C.L.¹ Cadiñanos, J.² De Sandre-Giovannoli, A.³ Bernard, R.⁴ Courrier, S.⁵ Boccaccio, I.⁶

5
- 30844451421
- Homozygous and compound heterozygous mutations in ZMPSTE 24 cause the laminopathy restrictive dermopathy
- Moulson CL, Gloriosa G, van der Wal A, Smitt JHS, van Hagen JM, Miner JH. Homozygous and compound heterozygous mutations in ZMPSTE 24 cause the laminopathy restrictive dermopathy. J Invest Dermatol 2005;125: 913-919.
- (2005) J Invest Dermatol , vol.125 , pp. 913-919
- Moulson, C.L.¹ Gloriosa, G.² Van Der Wal, A.³ Smitt, J.H.S.⁴ Van Hagen, J.M.⁵ Miner, J.H.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.