Oncology Medical News about Mosaicism

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Mosaicism and haemophilia
Haemophilia, 11/05/09

Kasper CK et al. – Mosaicism may affect the haemophilia phenotype. Well–known instances include chromosomal mosaicism due to aneuploidy and pseudo–mosaicism due to varying patterns of X–chromosome inactivation. Proven or possible genetic mosaicism is an important consideration when predicting the likelihood of transmission of haemophilia to a future generation.

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Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles
Ophthalmology, 11/09/09 Relevance Score: 83%

A Novel Missense Mutation in LIS1 in a Child With Subcortical Band Heterotopia and Pachygyria Inherited From His Mildly Affected Mother With Somatic Mosaicism
Journal of Child Neurology, 10/26/09 Relevance Score: 83%

Cytogenetic analysis of human embryos and embryonic stem cells derived from monopronuclear zygotes
Journal of Assisted Reproduction and Genetics, 11/09/09 Relevance Score: 80%

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis
Journal of Medical Genetics, 11/10/09 Relevance Score: 77%