Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping.
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A. Chapelle | A. de la Chapelle | B. Cormand | H. Topaloglu | H. Pihko | K. Avela | A. Lehesjoki | B. Talim | P. Santavuori | A. Lehesjoki | H. Topaloğlu
[1] I. Kanazawa,et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy , 1998, Nature.
[2] Shun–ichi Kobayashi. Tokyo campus rising , 1998, Nature.
[3] F. Muntoni,et al. Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. , 1998, American journal of human genetics.
[4] E. Hoffman,et al. Mutations in the integrin α7 gene cause congenital myopathy , 1998, Nature Genetics.
[5] T. Voit,et al. Congenital muscular dystrophies: 1997 update , 1998, Brain and Development.
[6] T. Autti,et al. Muscle-eye-brain disease: clinical features, visual evoked potentials and brain imaging in 20 patients. , 1998, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[7] V. Dubowitz. 50th ENMC International Workshop: congenital muscular dystrophy. 28 February 1997 to 2 March 1997, Naarden, The Netherlands. , 1997, Neuromuscular disorders : NMD.
[8] C. Portera-Cailliau,et al. Laminins of the adult mammalian CNS; laminin-α2 (merosin M-) chain immunoreactivity is associated with neuronal processes , 1997, Brain Research.
[9] C. Catsman-Berrevoets,et al. Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities , 1997, Annals of neurology.
[10] A. de la Chapelle,et al. Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysis. , 1997, American journal of human genetics.
[11] A. Paetau,et al. Muscle—eye—brain disease: A neuropathological study , 1997, Annals of neurology.
[12] Peter Beighton,et al. de la Chapelle, A. , 1997 .
[13] N. Morton,et al. A metric map of humans: 23,500 loci in 850 bands. , 1996, Proceedings of the National Academy of Sciences of the United States of America.
[14] P. Deloukas,et al. A Gene Map of the Human Genome , 1996, Science.
[15] L Kruglyak,et al. Parametric and nonparametric linkage analysis: a unified multipoint approach. , 1996, American journal of human genetics.
[16] Cécile Fizames,et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites , 1996, Nature.
[17] F. Speleman,et al. Reassignment of MYCL1 to human chromosome 1p34.3 by fluorescence in situ hybridization. , 1996, Cytogenetics and cell genetics.
[18] L. Kunkel,et al. β–sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex , 1995, Nature Genetics.
[19] J. Weissenbach,et al. Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy , 1995, Nature Genetics.
[20] H. Topalogˇlu,et al. Congenital muscular dystrophy with eye and brain involvement. The Turkish experience in two cases , 1995, Brain and Development.
[21] A. Chapelle,et al. Muscle-eye-brain disease and Fukuyama type congenital muscular dystrophy are not allelic , 1995, Neuromuscular Disorders.
[22] K. Campbell. Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage , 1995, Cell.
[23] J. Terwilliger. A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci. , 1995, American journal of human genetics.
[24] K. Sainio,et al. Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study , 1995, Brain and Development.
[25] L. Peltonen,et al. Identification of YAC clones for human chromosome 1p32 and physical mapping of the infantile neuronal ceroid lipofuscinosis (INCL) locus. , 1995, Genomics.
[26] K H Buetow,et al. A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). , 1994, Science.
[27] I. Kanazawa,et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31–33 , 1993, Nature Genetics.
[28] E. Engvall,et al. Abnormal localization of laminin subunits in muscular dystrophies , 1993, Journal of the Neurological Sciences.
[29] A. Chapelle,et al. Disease gene mapping in isolated human populations: the example of Finland. , 1993, Journal of medical genetics.
[30] F. Gabreëls,et al. Congenital muscular dystrophy with eye and brain malformations in six Dutch patients. , 1992, Neuropediatrics.
[31] Richard O. Hynes,et al. Integrins: Versatility, modulation, and signaling in cell adhesion , 1992, Cell.
[32] E. Engvall,et al. Merosin promotes cell attachment and neurite outgrowth and is a component of the neurite-promoting factor of RN22 schwannoma cells. , 1992, Experimental cell research.
[33] A. Lander,et al. Relationship between neuronal migration and cell-substratum adhesion: laminin and merosin promote olfactory neuronal migration but are anti- adhesive , 1991, The Journal of cell biology.
[34] R. Pagon,et al. Response to Santavuori et al. regarding Walker-Warburg syndrome and muscle-eye-brain disease , 1990 .
[35] L. Ketonen,et al. Muscle-eye-brain disease and Walker-Warburg syndrome. , 1990, American journal of medical genetics.
[36] L. Ketonen,et al. Muscle-eye-brain disease (MEB) , 1989, Brain and Development.
[37] L B Holmes,et al. Diagnostic criteria for Walker-Warburg syndrome. , 1989, American journal of medical genetics.
[38] G. Guazzi,et al. Cerebro-ocular dysplasia and muscular dystrophy: report of two cases. , 1988, Neuropediatrics.
[39] E S Lander,et al. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. , 1987, Science.
[40] J. R. Moore,et al. Congenital muscular dystrophy and cerebral CT scan anomalies Results of a collaborative study of the Société de Neurologie Infantile , 1986, Journal of the Neurological Sciences.
[41] K. Takada. Cortical Dysplasia in Congenital Muscular Dystrophy with Central Nervous System Involvement (Fukuyama Type) , 1984, Journal of neuropathology and experimental neurology.
[42] J. Ott,et al. Strategies for multilocus linkage analysis in humans. , 1984, Proceedings of the National Academy of Sciences of the United States of America.
[43] M. Ōsawa,et al. Congenital progressive muscular dystrophy of the fukuyama type — clinical, genetic and pathological considerations — , 1981, Brain and Development.
[44] C. Raitta,et al. OPHTHALMOLOGICAL FINDINGS IN A NEW SYNDROME WITH MUSCLE, EYE AND BRAIN INVOLVEMENT , 1978, Acta ophthalmologica.
[45] P. Santavuori,et al. Muscle, Eye and Brain Disease: A New Syndrome , 1977 .