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Volumn 63, Issue 2, 1998, Pages 541-546

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 8P; CHROMOSOME MAP; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; FEMALE; GENE LOCUS; GENETIC HETEROGENEITY; HUMAN; HUMAN TISSUE; MALE; MICROCEPHALY; PAKISTAN; PRIORITY JOURNAL; ZYGOSITY;

EID: 0032231397     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301966     Document Type: Article
Times cited : (131)

References (21)
  • 1
    • 0026515771 scopus 로고
    • Purine utilisation, de novo synthesis and degradation in mouse preimplantation embryos
    • Alexiou M, Leese HJ (1992) Purine utilisation, de novo synthesis and degradation in mouse preimplantation embryos. Development 114:185-192
    • (1992) Development , vol.114 , pp. 185-192
    • Alexiou, M.1    Leese, H.J.2
  • 4
    • 0022530273 scopus 로고
    • Structure of the Eip 28/29 gene, an ecdysone-inducible gene from Drosophila
    • Cherbas L, Schulz RA, Koehler MMD, Savakis C, Cherbas P (1986) Structure of the Eip 28/29 gene, an ecdysone-inducible gene from Drosophila. J Mol Biol 189:617-631
    • (1986) J Mol Biol , vol.189 , pp. 617-631
    • Cherbas, L.1    Schulz, R.A.2    Koehler, M.M.D.3    Savakis, C.4    Cherbas, P.5
  • 5
    • 84979192849 scopus 로고
    • The genetics and sub-classification of microcephaly
    • Cowie V (1960) The genetics and sub-classification of microcephaly. J Ment Defic Res 4:42-47
    • (1960) J Ment Defic Res , vol.4 , pp. 42-47
    • Cowie, V.1
  • 6
    • 0023140179 scopus 로고
    • The dilemma in prenatal diagnosis of idiopathic microcephaly
    • Jaffe M, Tirosh E, Oren S (1987) The dilemma in prenatal diagnosis of idiopathic microcephaly. Dev Med Child Neurol 29:187-189
    • (1987) Dev Med Child Neurol , vol.29 , pp. 187-189
    • Jaffe, M.1    Tirosh, E.2    Oren, S.3
  • 7
    • 0009677692 scopus 로고
    • Genetic study of microcephaly based on Japanese material
    • Komai T, Kishimoto K, Ozaki Y (1955) Genetic study of microcephaly based on Japanese material. Am J Hum Genet 7:51-65
    • (1955) Am J Hum Genet , vol.7 , pp. 51-65
    • Komai, T.1    Kishimoto, K.2    Ozaki, Y.3
  • 8
    • 0028857541 scopus 로고
    • Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping
    • Kruglyak L, Daly MJ, Lander ES (1995) Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet 56: 519-527
    • (1995) Am J Hum Genet , vol.56 , pp. 519-527
    • Kruglyak, L.1    Daly, M.J.2    Lander, E.S.3
  • 9
    • 0023239442 scopus 로고
    • Homozygosity mapping: A way to map human recessive traits with the DNA of inbred children
    • Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236:1567-1570
    • (1987) Science , vol.236 , pp. 1567-1570
    • Lander, E.S.1    Botstein, D.2
  • 10
    • 0029879360 scopus 로고    scopus 로고
    • The Saccharomyces cerevisiae zinc finger proteins Msn2p and Msn4p are required for trancriptional induction through the stress-response element (STRE)
    • Martinez-Pastor MT, Marchler G, Schuller C, Marchler-Bauer A, Ruis H, Estruch F (1996) The Saccharomyces cerevisiae zinc finger proteins Msn2p and Msn4p are required for trancriptional induction through the stress-response element (STRE). EMBO J 15:2227-2235
    • (1996) EMBO J , vol.15 , pp. 2227-2235
    • Martinez-Pastor, M.T.1    Marchler, G.2    Schuller, C.3    Marchler-Bauer, A.4    Ruis, H.5    Estruch, F.6
  • 11
    • 0025029037 scopus 로고
    • Cloning and sequencing of a human cDNA coding for a multifunctional polypeptide of the purine pathway by complementation of the ade2-101 mutant in Saccharomyces cerevisiae
    • Minet M, Lacroute F (1990) Cloning and sequencing of a human cDNA coding for a multifunctional polypeptide of the purine pathway by complementation of the ade2-101 mutant in Saccharomyces cerevisiae. Curr Genet 18: 287-291
    • (1990) Curr Genet , vol.18 , pp. 287-291
    • Minet, M.1    Lacroute, F.2
  • 12
    • 77049298733 scopus 로고
    • The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type
    • Morton NE (1955) The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type. Am J Hum Genet 7:80-96
    • (1955) Am J Hum Genet , vol.7 , pp. 80-96
    • Morton, N.E.1
  • 13
    • 0015549213 scopus 로고
    • A problem in diagnosis of primary versus secondary microcephaly
    • Qazi QH, Reed TE (1973) A problem in diagnosis of primary versus secondary microcephaly. Clin Genet 4:46-52
    • (1973) Clin Genet , vol.4 , pp. 46-52
    • Qazi, Q.H.1    Reed, T.E.2
  • 18
    • 0009938051 scopus 로고    scopus 로고
    • Neural tube defects and other malformations of the central nervous system
    • Rimom DL, Connor JM, Pyeritz RE (eds) Churchill Livingstone, New York
    • Tolmie J (1996) Neural tube defects and other malformations of the central nervous system. In: Rimom DL, Connor JM, Pyeritz RE (eds) Emery and Rimoin's principles and practice of medical genetics. Vol. 2. Churchill Livingstone, New York, pp 2145-2176
    • (1996) Emery and Rimoin's Principles and Practice of Medical Genetics , vol.2 , pp. 2145-2176
    • Tolmie, J.1
  • 19
    • 0023183173 scopus 로고
    • Microcephaly: Genetic counselling and antenatal diagnosis after the birth of an affected child
    • Tolmie JL, McNay M, Stephenson JB, Doyle D, Connor JM (1987) Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child. Am J Med Genet 27:583-594
    • (1987) Am J Med Genet , vol.27 , pp. 583-594
    • Tolmie, J.L.1    McNay, M.2    Stephenson, J.B.3    Doyle, D.4    Connor, J.M.5
  • 20
    • 0002395514 scopus 로고
    • Microcephaly in the Netherlands: A clinical and genetical study
    • Van den Bosch J (1959) Microcephaly in the Netherlands: a clinical and genetical study. Ann Hum Genet 23:91-116
    • (1959) Ann Hum Genet , vol.23 , pp. 91-116
    • Van Den Bosch, J.1
  • 21
    • 0014065068 scopus 로고
    • In utero exposure to the Hiroshima atomic bomb: An evaluation of head size and mental retardation: twenty years later
    • Wood JW, Johnson KG, Omori Y (1967) In utero exposure to the Hiroshima atomic bomb: an evaluation of head size and mental retardation: twenty years later. Pediatrics 39: 385-392
    • (1967) Pediatrics , vol.39 , pp. 385-392
    • Wood, J.W.1    Johnson, K.G.2    Omori, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.