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Volumn 63, Issue 4, 1998, Pages 1095-1101

A gene for Meckel syndrome maps to chromosome 11q13

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 11Q; CLINICAL ARTICLE; FETUS; GENE LOCUS; GENE MAPPING; GENETIC HETEROGENEITY; HUMAN; MECKEL SYNDROME; PATHOGENESIS; PEDIGREE; POPULATION GENETICS; PRIORITY JOURNAL;

EID: 0032231917     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302062     Document Type: Article
Times cited : (78)

References (33)
  • 1
    • 0025086847 scopus 로고
    • A distinctive triad malformations of the central nervous system in the Meckel-Grüber syndrome
    • Ahdab-Barmada M, Claasen D (1990) A distinctive triad malformations of the central nervous system in the Meckel-Grüber syndrome. J Neuropathol Exp Neurol 49:610-620
    • (1990) J Neuropathol Exp Neurol , vol.49 , pp. 610-620
    • Ahdab-Barmada, M.1    Claasen, D.2
  • 4
    • 0018103079 scopus 로고
    • Meckel's syndrome (dysencephalia slanchnocystica) in two Pakistani sibs
    • Crawford A, Jackson P, Kolher GH (1978) Meckel's syndrome (dysencephalia slanchnocystica) in two Pakistani sibs. J Med Genet 15:242-245
    • (1978) J Med Genet , vol.15 , pp. 242-245
    • Crawford, A.1    Jackson, P.2    Kolher, G.H.3
  • 5
  • 6
    • 0030845970 scopus 로고    scopus 로고
    • Neuropathologie foetale
    • Encha-Razavi F (1997) Neuropathologie foetale. Ann Pathol 17:281-286
    • (1997) Ann Pathol , vol.17 , pp. 281-286
    • Encha-Razavi, F.1
  • 7
    • 0019447461 scopus 로고
    • Spectrum of anomalies in the Meckel syndrome; or, "Maybe there is a malformation syndrome with at least one constant anomaly?"
    • Fraser FC, Lytwyn A (1981) Spectrum of anomalies in the Meckel syndrome; or, "Maybe there is a malformation syndrome with at least one constant anomaly?" Am J Med Genet 9:67-73
    • (1981) Am J Med Genet , vol.9 , pp. 67-73
    • Fraser, F.C.1    Lytwyn, A.2
  • 8
    • 0027202377 scopus 로고
    • Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly
    • Genuardi M, Dionisi-Vici C, Sabetta G, Mignozzi M, Rizzonni G, Cotugno G, Neri MEM (1993) Cerebro-reno-digital (Meckel-like) syndrome with Dandy-Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly. Am J Med Genet 47:50-53
    • (1993) Am J Med Genet , vol.47 , pp. 50-53
    • Genuardi, M.1    Dionisi-Vici, C.2    Sabetta, G.3    Mignozzi, M.4    Rizzonni, G.5    Cotugno, G.6    Neri, M.E.M.7
  • 10
    • 0026007134 scopus 로고
    • Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: A distinct syndrome?
    • Hunter AG, Jimenez C, Tawagi FG (1991) Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome? Am J Med Genet 4:201-207
    • (1991) Am J Med Genet , vol.4 , pp. 201-207
    • Hunter, A.G.1    Jimenez, C.2    Tawagi, F.G.3
  • 11
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: A unified multipoint approach
    • Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 58:1347-1363
    • (1996) Am J Hum Genet , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.J.2    Reeve-Daly, M.P.3    Lander, E.S.4
  • 12
    • 0023239442 scopus 로고
    • Homozygosity mapping: A new way to map recessive trait with the DNA of inbred children
    • Lander ES, Botstein D (1987) Homozygosity mapping: a new way to map recessive trait with the DNA of inbred children. Science 236:1567-1570
    • (1987) Science , vol.236 , pp. 1567-1570
    • Lander, E.S.1    Botstein, D.2
  • 14
    • 0015076780 scopus 로고
    • Encephalocele, polycystic kidneys and polydactyly as an autosomal recessive trait simulating certain other disorders: The Meckel syndrome
    • Mecke S, Passarge E (1971) Encephalocele, polycystic kidneys and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome. Ann Genet 14:97-103
    • (1971) Ann Genet , vol.14 , pp. 97-103
    • Mecke, S.1    Passarge, E.2
  • 15
    • 0002584179 scopus 로고
    • Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister
    • Meckel JF (1822) Beschreibung zweier, durch sehr aehnliche Bildungsabweichungen entstellter Geschwister. Dtsch Arch Physiol 7:99-172
    • (1822) Dtsch Arch Physiol , vol.7 , pp. 99-172
    • Meckel, J.F.1
  • 18
    • 0003408936 scopus 로고
    • John Hopkins University Press, Baltimore and London
    • Ott J (1985) Analysis of human genetic linkage. John Hopkins University Press, Baltimore and London
    • (1985) Analysis of Human Genetic Linkage
    • Ott, J.1
  • 20
    • 0028980029 scopus 로고
    • The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24
    • Paavola P, Salonen R, Weissenbach J, Peltonen L (1995) The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet 11: 213-215
    • (1995) Nat Genet , vol.11 , pp. 213-215
    • Paavola, P.1    Salonen, R.2    Weissenbach, J.3    Peltonen, L.4
  • 21
    • 1642593112 scopus 로고    scopus 로고
    • Physical mapping of the Meckel syndrome at 17q21-q24
    • _ (1996a) Physical mapping of the Meckel syndrome at 17q21-q24. Eur J Hum Genet 4, Suppl 1:66
    • (1996) Eur J Hum Genet , vol.4 , Issue.SUPPL. 1 , pp. 66
  • 22
    • 85031587551 scopus 로고    scopus 로고
    • Towards the molecular pathogenesis of Meckel syndrome, a lethal malformation syndrome of the fetus: Physical mapping and analysis of candidate genes
    • Manchester, UK, October 8-11
    • _ (1996b) Towards the molecular pathogenesis of Meckel syndrome, a lethal malformation syndrome of the fetus: physical mapping and analysis of candidate genes. Paper presented at the seventh Birth Defects Manchester Conference, Manchester, UK, October 8-11
    • (1996) Seventh Birth Defects Manchester Conference
  • 23
    • 0030731439 scopus 로고    scopus 로고
    • Expression and interaction of the two closely related homeobox genes PHOX2a and PHOX2b during neurogenesis
    • Pattyn A, Morin X, Goridis C, Brunet JF (1997) Expression and interaction of the two closely related homeobox genes PHOX2a and PHOX2b during neurogenesis. Development 124:4065-4075
    • (1997) Development , vol.124 , pp. 4065-4075
    • Pattyn, A.1    Morin, X.2    Goridis, C.3    Brunet, J.F.4
  • 24
    • 0019774003 scopus 로고
    • Le syndrome de Meckel: Sa variabilité d'expression peut faire obstacle au diagnostic prénatal
    • Plauchu H, Kemlin I, Bouvier R, Robert JM (1981) Le syndrome de Meckel: sa variabilité d'expression peut faire obstacle au diagnostic prénatal. J Genet Hum 29:431-440
    • (1981) J Genet Hum , vol.29 , pp. 431-440
    • Plauchu, H.1    Kemlin, I.2    Bouvier, R.3    Robert, J.M.4
  • 26
    • 0021280772 scopus 로고
    • The Meckel syndrome: Clinicopathological findings in 67 patients
    • Salonen R (1984) The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet 18:671-689
    • (1984) Am J Med Genet , vol.18 , pp. 671-689
    • Salonen, R.1
  • 27
    • 0021253299 scopus 로고
    • The Meckel syndrome in Finland: Epidemiologic and genetic aspects
    • Salonen R, Norio R (1984) The Meckel syndrome in Finland: epidemiologic and genetic aspects. Am J Med Genet 18: 691-698
    • (1984) Am J Med Genet , vol.18 , pp. 691-698
    • Salonen, R.1    Norio, R.2
  • 28
    • 0019416725 scopus 로고
    • Phenotypic variation in Meckel syndrome
    • Seller MJ (1981) Phenotypic variation in Meckel syndrome. Clin Genet 20:74-77
    • (1981) Clin Genet , vol.20 , pp. 74-77
    • Seller, M.J.1
  • 29
    • 0001395571 scopus 로고
    • Testing for heterogeneity of recombination values in human genetics
    • Smith CAB (1963) Testing for heterogeneity of recombination values in human genetics. Ann Hum Genet 27:175-182
    • (1963) Ann Hum Genet , vol.27 , pp. 175-182
    • Smith, C.A.B.1
  • 30
    • 0026723476 scopus 로고
    • Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: Review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome
    • Verloes A, Gillerot Y, Langhendries JP, Fryns JP, Koulischer I (1992) Variability versus heterogeneity in syndromal hypothalamic hamartoblastoma and related disorders: review and delineation of the cerebro-acro-visceral early lethality (CAVE) multiplex syndrome. Am J Med Genet 43:669-677
    • (1992) Am J Med Genet , vol.43 , pp. 669-677
    • Verloes, A.1    Gillerot, Y.2    Langhendries, J.P.3    Fryns, J.P.4    Koulischer, I.5
  • 31
    • 0025897140 scopus 로고
    • Dandy-Walker malformation (variant), cystic dysplastic kidneys and hepatic fibrosis: A distinct entity or Meckel syndrome?
    • Walpole IR, Goldblatt J, Hockey A, Knowles A (1991) Dandy-Walker malformation (variant), cystic dysplastic kidneys and hepatic fibrosis: a distinct entity or Meckel syndrome? Am J Med Genet 39:294-298
    • (1991) Am J Med Genet , vol.39 , pp. 294-298
    • Walpole, I.R.1    Goldblatt, J.2    Hockey, A.3    Knowles, A.4
  • 32
    • 0028275502 scopus 로고
    • Meckel syndrome: What are the minimum diagnostic criteria?
    • Wright C, Healicon R, English C, Burn J (1994) Meckel syndrome: what are the minimum diagnostic criteria? J Med Genet 31:482-485
    • (1994) J Med Genet , vol.31 , pp. 482-485
    • Wright, C.1    Healicon, R.2    English, C.3    Burn, J.4
  • 33
    • 0030972227 scopus 로고    scopus 로고
    • Genetic disorders among Palestinian Arabs. II. Hydrocephalus and neural tube defects
    • Zlotogora J (1997) Genetic disorders among Palestinian Arabs. II. Hydrocephalus and neural tube defects. Am J Med Genet 71:33-35
    • (1997) Am J Med Genet , vol.71 , pp. 33-35
    • Zlotogora, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.