메뉴 건너뛰기




Volumn 88, Issue 1, 1999, Pages 98-101

Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome

Author keywords

Aneurysm; Conductive system; Neonatal Marfan syndrome; Point mutation

Indexed keywords

AORTA SINUS; ARACHNODACTYLY; ARTICLE; AUTOPSY; CASE REPORT; CHILD; CHORION VILLUS SAMPLING; FACE DYSMORPHIA; FEMALE; GLYCOSYLATION; HEART OUTPUT; HUMAN; MARFAN SYNDROME; MOLECULAR GENETICS; POINT MUTATION; PRIORITY JOURNAL;

EID: 0032985117     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1080/08035259950170691     Document Type: Article
Times cited : (23)

References (15)
  • 1
    • 0000296991 scopus 로고
    • Un cas de déformation congénitale des quatre membres, plus prononcée aux extrémités, charactérisée par l'allongement des os, avec un certain degré d'amincissement
    • Paris
    • Marfan AB. Un cas de déformation congénitale des quatre membres, plus prononcée aux extrémités, charactérisée par l'allongement des os, avec un certain degré d'amincissement. Bull Mem Soc Med Hop (Paris) 1896; 13: 220-6
    • (1896) Bull Mem Soc Med Hop , vol.13 , pp. 220-226
    • Marfan, A.B.1
  • 4
    • 0025319702 scopus 로고
    • Two-dimensional and Doppler echocardiographic and pathologic characteristics of the infantile Marfan syndrome
    • Geva T, Sanders SP, Diogenes MA, Rockenmacher S, Van Praagh R. Two-dimensional and Doppler echocardiographic and pathologic characteristics of the infantile Marfan syndrome. Am J Cardiol 1990; 65: 1230-7
    • (1990) Am J Cardiol , vol.65 , pp. 1230-1237
    • Geva, T.1    Sanders, S.P.2    Diogenes, M.A.3    Rockenmacher, S.4    Van Praagh, R.5
  • 6
    • 0025801891 scopus 로고
    • Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency
    • Buntinx IM, Willems PJ, Spitaels SE, Van Reempst PJ, De Paepe AM, Dumon JE. Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency. J Med Genet 1991; 28: 267-73
    • (1991) J Med Genet , vol.28 , pp. 267-273
    • Buntinx, I.M.1    Willems, P.J.2    Spitaels, S.E.3    Van Reempst, P.J.4    De Paepe, A.M.5    Dumon, J.E.6
  • 8
    • 0026510275 scopus 로고
    • Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5
    • The International Marfan Syndrome Collaborative Study
    • Tsipouras P, Del Mastro R, Sarfarazi M, Lee B, Vitale E, Child AH, et al. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. N Engl J Med 1992; 326: 905-9
    • (1992) N Engl J Med , vol.326 , pp. 905-909
    • Tsipouras, P.1    Del Mastro, R.2    Sarfarazi, M.3    Lee, B.4    Vitale, E.5    Child, A.H.6
  • 9
    • 0027955749 scopus 로고
    • Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15
    • Milewicz DM, Duvic M. Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15. Am J Hum Genet 1994; 54: 447-53
    • (1994) Am J Hum Genet , vol.54 , pp. 447-453
    • Milewicz, D.M.1    Duvic, M.2
  • 10
    • 0029052915 scopus 로고
    • Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons
    • Nijbroek G, Sood S, Mcintosh I, Francomano CA, Bull E, Pereira L, et al. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet 1995; 57: 8-21
    • (1995) Am J Hum Genet , vol.57 , pp. 8-21
    • Nijbroek, G.1    Sood, S.2    Mcintosh, I.3    Francomano, C.A.4    Bull, E.5    Pereira, L.6
  • 11
    • 0030587439 scopus 로고    scopus 로고
    • A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome
    • Lönnqvist L, Karttunen L, Rantamaki T, Kielty C, Raghunath M, Peltonen L. A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome. Genomics 1996; 36: 468-75
    • (1996) Genomics , vol.36 , pp. 468-475
    • Lönnqvist, L.1    Karttunen, L.2    Rantamaki, T.3    Kielty, C.4    Raghunath, M.5    Peltonen, L.6
  • 14
    • 0030723471 scopus 로고    scopus 로고
    • Nonneoplastic diseases of aorta and pulmonary trunk, Part IV
    • Waller BF, Clary JD, Rohr T. Nonneoplastic diseases of aorta and pulmonary trunk, Part IV. Clin Cardiol 1997; 20: 964-6
    • (1997) Clin Cardiol , vol.20 , pp. 964-966
    • Waller, B.F.1    Clary, J.D.2    Rohr, T.3
  • 15
    • 0008296375 scopus 로고
    • Nonatherosclerotic diseases of the aorta
    • Silver MD, editor. London: Churchill Livingstone
    • Heggtveit HA. Nonatherosclerotic diseases of the aorta. In: Silver MD, editor. Cardiovascular pathology, 2nd ed. London: Churchill Livingstone, 1991
    • (1991) Cardiovascular Pathology, 2nd Ed.
    • Heggtveit, H.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.