Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.
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R. Bayoumi | A. Reis | L. Al-Gazali | K. Saar | L. Sztriha | A Reis | L Al-Gazali | A. Reis | L Sztriha | K Saar | F Rueschendorf | M Nur-E-Kamal | R Bayoumi | M. Nur-E-Kamal | M. Nur-e-Kamal | F. Rueschendorf
[1] M. Muenke,et al. Clinical and molecular analysis in Joubert syndrome. , 1997, American journal of medical genetics.
[2] J. Ott. Linkage probability and its approximate confidence interval under possible heterogeneity , 1986, Genetic epidemiology. Supplement.
[3] A. McMahon,et al. Mouse Wnt genes exhibit discrete domains of expression in the early embryonic CNS and limb buds. , 1993, Development.
[4] L Kruglyak,et al. Parametric and nonparametric linkage analysis: a unified multipoint approach. , 1996, American journal of human genetics.
[5] M. Baraitser,et al. Joubert syndrome: a review. , 1992, American journal of medical genetics.
[6] R. Tusa,et al. "Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation , 1997, Journal of child neurology.
[7] H. Heng,et al. Identification of a human LIM-Hox gene, hLH-2, aberrantly expressed in chronic myelogenous leukaemia and located on 9q33-34.1. , 1996, Oncogene.
[8] Cécile Fizames,et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites , 1996, Nature.
[9] E S Lander,et al. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. , 1987, Science.
[10] Webb Haymaker,et al. Histology and Histopathology of the Nervous System , 1982 .
[11] E. Boltshauser,et al. Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar Vermis , 1977, Neuropadiatrie.
[12] E. Boltshauser,et al. Follow-up in children with Joubert syndrome. , 1997, Neuropediatrics.
[13] M. Capecchi,et al. Swaying is a mutant allele of the proto-oncogene Wnt-1 , 1991, Cell.
[14] G. Lathrop,et al. Easy calculations of lod scores and genetic risks on small computers. , 1984, American journal of human genetics.
[15] F. Andermann,et al. Familial agenesis of the cerebellar vermis , 1969, Neurology.
[16] M. Hatten,et al. Mechanisms of neural patterning and specification in the developing cerebellum. , 1995, Annual review of neuroscience.
[17] L. Al-Gazali,et al. Joubert's syndrome: new cases and review of clinicopathologic correlation. , 1999, Pediatric neurology.
[18] A A Schäffer,et al. Avoiding recomputation in linkage analysis. , 1994, Human heredity.
[19] A A Schäffer,et al. Faster sequential genetic linkage computations. , 1993, American journal of human genetics.
[20] T. Furuyama,et al. Differential expression of LIM-homeodomain genes in the embryonic murine brain , 1996, Neuroscience Letters.