Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity-Reference-Cited by-同舟云学术

Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

Published:2008-01-19 Issue:3 Volume:123 Page:237-245
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Jalali Ali,Aldinger Kimberly A.,Chary Ajit,Mclone David G.,Bowman Robin M.,Le Luan Cong,Jardine Phillip,Newbury-Ecob Ruth,Mallick Andrew,Jafari Nadereh,Russell Eric J.,Curran John,Nguyen Pam,Ouahchi Karim,Lee Charles,Dobyns William B.,Millen Kathleen J.,Pina-Neto Joao M.,Kessler John A.,Bassuk Alexander G.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-008-0467-y.pdf

Reference45 articles.

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3. Bien-Willner GA, Stankiewicz P, Lupski JR (2007) SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway. Hum Mol Genet 16:1143–1156

4. Carvalho DR, Giuliani LR, Simao GN, Santos AC, Pina-Neto JM (2006) Autosomal dominant atretic cephalocele with phenotype variability: report of a Brazilian family with six affected in four generations. Am J Med Genet A 140:1458–1462

5. Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel AA, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID (2005) Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. Am J Med Genet A 134:3–11

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