Point Mutations and an Intragenic Deletion in LIS1 , the Lissencephaly Causative Gene in Isolated Lissencephaly Sequence and Miller-Dieker Syndrome

By Lo Nigro Cristiana   Chong Samuel S.   Smith Ann C. M.   Dobyns William B.   Carrozzo Romeo   Ledbetter David H.  

Human Molecular Genetics, Vol. 6, Iss. 2, 1997-01 ,pp. : 157-164

Oxford University Press

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Interaction between LIS1 and doublecortin, two lissencephaly gene products

By Caspi Michal   Atlas Roee   Kantor Ayelet   Sapir Tamar   Reiner Orly  

Human Molecular Genetics, Vol. 9, Iss. 15, 2000-09 ,pp. : 2205-2213

Oxford University Press

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LIS1 and XLIS ( DCX ) mutations cause most classical lissencephaly, but different patterns of malformation

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Human Molecular Genetics, Vol. 7, Iss. 13, 1998-12 ,pp. : 2029-2037

Oxford University Press

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Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location

By Cheadle Jeremy P.   Gill Harinder   Fleming Nick   Maynard Julie   Kerr Alison  

Human Molecular Genetics, Vol. 9, Iss. 7, 2000-04 ,pp. : 1119-1129

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Familial Tetralogy of Fallot caused by mutation in the jagged1 gene

By Eldadah Z.A.  

Human Molecular Genetics, Vol. 10, Iss. 2, 2001-01 ,pp. : 163-169

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