A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3

Human Molecular Genetics

Volumn 6, Issue 2, 1997, Pages 147-155

  Chong, Samuel S ^a,b   Pack, Svetlana D ^a   Roschke, Anna V ^a   Tanigami, Akira ^a   Carrozzo, Romeo ^c   Smith, Ann C M ^a,b   Dobyns, William B ^d   Ledbetter, David H ^a,e  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b GEORGETOWN UNIVERSITY MEDICAL CENTER   (United States)

^c SAN RAFFAELE HOSPITAL   (Italy)

^d UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^e UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CONTIG;

AGYRIA; ARTICLE; CHROMOSOME 17P; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; FACE DYSMORPHIA; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE ISOLATION; HUMAN; HUMAN TISSUE; MOUSE; MULTIPLE MALFORMATION SYNDROME; NONHUMAN; PRIORITY JOURNAL;

1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; ABNORMALITIES, MULTIPLE; BASE SEQUENCE; BRAIN; CHROMOSOMES, HUMAN, PAIR 17; COSMIDS; DNA, COMPLEMENTARY; FACE; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MICROTUBULE-ASSOCIATED PROTEINS; MOLECULAR SEQUENCE DATA; PROMOTER REGIONS (GENETICS); PROTEINS; SYNDROME;

ACRONICTA LEPORINA;

EID: 0031046839     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.2.147     Document Type: Article

References (14)

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2. Dobyns,W.B., Elias,E.R., Newlin,A.C., Pagon,R.A. and Ledbetter,D.H. (1992) Causal heterogeneity in isolated lissencephaly. Neurology, 42, 1375-1388.
3. Dobyns,W.B., Curry,C.J.R., Hoyme,H.E., Turlington,L. and Ledbetter,D.H. (1991) Clinical and molecular diagnosis of Miller-Dieker syndrome. Am. J. Hum. Genet., 48, 584-594.
4. Dobyns,W.B., Reiner,O., Carrozzo,R. and Ledbetter,D.H. (1993) Lissencephaly, a human brain malformation associated with deletion of the LIS1 gene located at chromosome 17p13. J. Am. Med. Assoc., 270, 2838-2842.
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6. Reiner,O., Carrozzo,R., Shen,Y., Wehnert,M., Faustinella,F., Dobyns,W.B., Caskey,C.T. and Ledbetter,D.H. (1993) Isolation of a Miller-Dicker lissencephaly gene containing G protein β-subunit-like repeats. Nature, 364, 717-721.
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8. Chong,S.S., Tanigami,A., Roschke,A.V. and Ledbetter,D.H. (1996) 14-3-3ε has no homology to LIS1 and lies telomeric to it on chromosome 17p13.3 outside the Miller-Dicker syndrome chromosome region. Genome Res., 6, 735-741.
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12. Isomura,M., Tanigami,A., Saito,H., Harada,Y., Katagiri,T., Inazawa,J., Ledbetter,D.H. and Nakamura,Y. (1994) Detailed analysis of loss of heterozygosity on chromosome 17p13 in breast carcinoma on the basis of a high-resolution physical map with 29 markers. Genes Chrom. Cancer, 9, 173-179.
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