Isolated lissencephaly sequence with balanced chromosome translocation involving 17p13.3

[1]  D. Ledbetter,et al.  Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. , 1997, Human molecular genetics.

[2]  D. Ledbetter,et al.  A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. , 1997, Human molecular genetics.

[3]  A. Kakita,et al.  Lissencephaly gene product. Localization in the central nervous system and loss of immunoreactivity in Miller-Dieker syndrome. , 1995, The American journal of pathology.

[4]  H. Arai,et al.  Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor , 1994, Nature.

[5]  D. Ledbetter,et al.  Isolation of a Miller–Dicker lissencephaly gene containing G protein β-subunit-like repeats , 1993, Nature.

[6]  D. Ledbetter,et al.  Clinical and molecular diagnosis of Miller-Dieker syndrome. , 1991, American journal of human genetics.

[7]  J. Aicardi The agyria-pachygyria complex: A spectrum of cortical malformations , 1991, Brain and Development.

[8]  W. Dobyns The neurogenetics of lissencephaly. , 1989, Neurologic clinics.

[9]  Y. Ehrlich,et al.  Neuroregulatory and neuropathological actions of the ether-phospholipid platelet-activating factor. , 1988, Science.

[10]  Zimmermann Rl,et al.  The lissencephaly syndrome. , 1982 .

[11]  J. Opitz,et al.  Miller-Dieker syndrome , 2020, Definitions.

[12]  J. Miller,et al.  Lissencephaly in 2 siblings , 1963, Neurology.

[13]  C. Truwit,et al.  Lissencephaly and other malformations of cortical development: 1995 update. , 1995, Neuropediatrics.

[14]  D. Ledbetter,et al.  Microdeletions of chromosome 17p13 as a cause of isolated lissencephaly. , 1992, American journal of human genetics.