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Items: 14

1.

Supravalvular aortic stenosis.

WILLIAMS JC, BARRATT-BOYES BG, LOWE JB.

Circulation. 1961 Dec;24:1311-8. No abstract available.

PMID:
14007182
2.

Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.

BEUREN AJ, APITZ J, HARMJANZ D.

Circulation. 1962 Dec;26:1235-40. No abstract available.

PMID:
13967885
3.

The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion.

Peoples R, Perez-Jurado L, Wang YK, Kaplan P, Francke U.

Am J Hum Genet. 1996 Jun;58(6):1370-3. No abstract available.

4.

Chromosomal duplications in bacteria, fruit flies, and humans.

Lupski JR, Roth JR, Weinstock GM.

Am J Hum Genet. 1996 Jan;58(1):21-7. Review. No abstract available.

5.

Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7.

Foster K, Ferrell R, King-Underwood L, Povey S, Attwood J, Rennick R, Humphries SE, Henney AM.

Ann Hum Genet. 1993 May;57(Pt 2):87-96.

PMID:
8368807
6.

Localization of the gene encoding the alpha 2/delta-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families.

Iles DE, Lehmann-Horn F, Scherer SW, Tsui LC, Olde Weghuis D, Suijkerbuijk RF, Heytens L, Mikala G, Schwartz A, Ellis FR, et al.

Hum Mol Genet. 1994 Jun;3(6):969-75.

PMID:
7951247
7.

Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.

Nickerson E, Greenberg F, Keating MT, McCaskill C, Shaffer LG.

Am J Hum Genet. 1995 May;56(5):1156-61.

8.

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT.

Nat Genet. 1993 Sep;5(1):11-6.

PMID:
7693128
9.

Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.

Lowery MC, Morris CA, Ewart A, Brothman LJ, Zhu XL, Leonard CO, Carey JC, Keating M, Brothman AR.

Am J Hum Genet. 1995 Jul;57(1):49-53.

10.

A YAC contig map of the human genome.

Chumakov IM, Rigault P, Le Gall I, Bellanné-Chantelot C, Billault A, Guillou S, Soularue P, Guasconi G, Poullier E, Gros I, et al.

Nature. 1995 Sep 28;377(6547 Suppl):175-297.

11.

The 1993-94 Généthon human genetic linkage map.

Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J.

Nat Genet. 1994 Jun;7(2 Spec No):246-339.

PMID:
7545953
12.

Genetic basis of inherited peripheral neuropathies.

Suter U, Patel PI.

Hum Mutat. 1994;3(2):95-102. Review.

PMID:
7515304
13.

A to G polymorphism in ELN gene.

Tromp G, Christiano A, Goldstein N, Indik Z, Boyd C, Rosenbloom J, Deak S, Prockop D, Kuivaniemi H.

Nucleic Acids Res. 1991 Aug 11;19(15):4314. No abstract available.

14.

A second-generation linkage map of the human genome.

Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P, Vaysseix G, Lathrop M.

Nature. 1992 Oct 29;359(6398):794-801.

PMID:
1436057

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