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Isolated supravalvular aortic stenosis: functional haploinsufficiency of the ...

Urbán(Z),Michels(V V),Thibodeau(S N),Davis... Hum Genet 2000-08-21

...ELN) in patients with non-syndromic supravalvular aortic stenosis (SVAS) from a total of eight unrelated families. Six n...

Mutations in the tropoelastin gene (ELN) were not found in patients with spon...

Grond-Ginsbach(C),Thomas-Feles(C),Werner(I... Stroke 2000-08-29

...ELN gene. The simultaneous visualization and quantification of ELN splice variants by gene scanning enabled the analysis...

Impaired distal airway development in mice lacking elastin.

Wendel(D P),Taylor(D G),Albertine(K H),Kea... Am J Respir Cell Mol Biol 2000-09-29

...Eln-/-). At birth, the distal air sacs of Eln-/- lungs dilate to form abnormally large cavities. This phenotype appears ...

Search for coeliac disease susceptibility loci on 7q11.23 candidate region: a...

Grillo(R),Petronzelli(F),Mora(B),Bonamico(... Hum Hered 2000-05-25

...ELN17 microsatellite marker mapped within the ELN gene to look for a possible contribution of this region to the suscept...

Williams syndrome and the elastin gene in Thai patients.

Ruangdaraganon(N),Tocharoentanaphol(C),Kot... J Med Assoc Thai 2000-04-05

...ELN) on long arm of chromosome 7. Thai patients were previously reported by clinical diagnosis. This study reports the f...

Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (...

Zhang(M C),He(L),Giro(M),Yong(S L),Tiller(... J Biol Chem 1999-02-05

...ELN cDNA sequences of all three affected individuals. Transcripts from both alleles in each kindred were unstable and re...

Familial Williams-Beuren syndrome.

Ounap(K),Laidre(P),Bartsch(O),Rein(R),Lipp... Am J Med Genet 1999-03-10

...ELN locus. The mother was diagnosed after the identification of WBS in her affected son. She is deceased and was thus no...

Identification of a putative transcription factor gene (WBSCR11) that is comm...

Osborne(L R),Campbell(T),Daradich(A),Scher... Genomics 1999-05-06

...ELN, but the genes contributing to the other features of WBS are still undetermined. Fifteen genes have been shown to re...

Role of nitric oxide in cardiovascular responses to endotoxemia in neonatal l...

Milstein(J M),Milano(E),Goetzman(B W),Benn... Biol Neonate 1999-03-18

...ELN group. In terms of peripheral hemodynamics, both the E and ELN groups demonstrated significant progressive decreases...

Microsatellite instability assessment in prediction of drug resistance in chi...

Yhap(M),Pyesmany(A F),Ball(L M),Riddle(D C... Adv Exp Med Biol 1999-11-04

...ELN gene D7S1870; IFNA D1S243 (1p36) which show microsatellite variation. Isotopic labelling in amplification, non-denat...

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