Radhakrishna(U),Blouin(J L),Mehenni(H),Pat... Am J Hum Genet 1997-03-18

...ELN). The highest LOD score was obtained with marker D7S801 (zeta max = 4.21; theta = 0). Haplotype analysis enabled the...

Li(D Y),Toland(A E),Boak(B B),Atkinson(D L... Hum Mol Genet 1997-08-28

...ELN have not been identified in most cases of autosomal dominant SVAS. To define the spectrum of ELN mutations responsib...

Tassabehji(M),Metcalfe(K),Donnai(D),Hurst(... Hum Mol Genet 1997-08-28

We describe the complete exon-intron structure of the human elastin (ELN) gene located at chromosome 7q11.23. There are ...

Brøndum-Nielsen(K),Beck(B),Gyftodimou(J),H... Hum Genet 1997-02-20

Williams syndrome (WS) is associated with a submicroscopic deletion of the elastin gene (ELN) at 7q11.23. The deletion e...

Waugaman(W R),Lasensky(D J) AORN J 1997-01-23

...Eln Kerem and Mt Scopus Medical Centers of the Hadassah Medical Organization and describe one American nurse's experienc...

Hou(J W),Wang(J K),Wang(T R) J Formos Med Assoc 1997-04-10

...ELN) gene, exhibiting a submicroscopic deletion at 7q11.23, which was detected by fluorescence in situ hybridization (FI...

Osborne(L R),Martindale(D),Scherer(S W),Sh... Genomics 1997-01-23

...ELN) gene can account for the vascular and connective tissue abnormalities observed in WS patients, but the genes that c...

Lewis(S),Abrahamson(G),Boultwood(J),Fidler... Br J Haematol 1996-05-31

...ELN) and collagen type 1 alpha (COL1A2) and in three cases distal to this region between the genes for erythropoietin (E...

Pérez Jurado(L A),Peoples(R),Kaplan(P),Ham... Am J Hum Genet 1996-11-21

...ELN). We have investigated the frequency and size of the deletions, determined the parental origin, and correlated the m...

Frangiskakis(J M),Ewart(A K),Morris(C A),M... Cell 1996-08-26

...ELN) and LIM-kinase1 (LIMK1). The latter encodes a novel protein kinase with LIM domains and is strongly expressed in th...