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2. FISH analysis in patients with clinical diagnosis of Williams syndrome. Elçioglu N; Mackie-Ogilvie C; Daker M; Berry AC Acta Paediatr; 1998 Jan; 87(1):48-53. PubMed ID: 9510447 [TBL] [Abstract][Full Text] [Related]
3. Elastin gene deletions in Williams syndrome patients result in altered deposition of elastic fibers in skin and a subclinical dermal phenotype. Urbán Z; Peyrol S; Plauchu H; Zabot MT; Lebwohl M; Schilling K; Green M; Boyd CD; Csiszár K Pediatr Dermatol; 2000; 17(1):12-20. PubMed ID: 10720981 [TBL] [Abstract][Full Text] [Related]
4. A gene-dosage PCR method for the detection of elastin gene deletions in patients with Williams syndrome. del Rio T; Urbán Z; Csiszár K; Boyd CD Clin Genet; 1998 Aug; 54(2):129-35. PubMed ID: 9761391 [TBL] [Abstract][Full Text] [Related]
5. Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients. Joyce CA; Zorich B; Pike SJ; Barber JC; Dennis NR J Med Genet; 1996 Dec; 33(12):986-92. PubMed ID: 9004128 [TBL] [Abstract][Full Text] [Related]
6. Elastin region deletions in Williams syndrome. Zhang J; Kumar A; Roux K; Williams CA; Wallace MR Genet Test; 1999; 3(4):357-9. PubMed ID: 10627943 [TBL] [Abstract][Full Text] [Related]
7. Williams syndrome and related disorders. Morris CA; Mervis CB Annu Rev Genomics Hum Genet; 2000; 1():461-84. PubMed ID: 11701637 [TBL] [Abstract][Full Text] [Related]
9. [Genetic diagnosis of Williams syndrome]. Urbán Z; Kiss E; Kádár K; Szabolcs J; Csiszár K; Boyd DC; Fekete G Orv Hetil; 1997 Jul; 138(27):1749-52. PubMed ID: 9273487 [TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 7693128 [TBL] [Abstract][Full Text] [Related]
11. Vocal cord abnormalities in Williams syndrome: a further manifestation of elastin deficiency. Vaux KK; Wojtczak H; Benirschke K; Jones KL Am J Med Genet A; 2003 Jun; 119A(3):302-4. PubMed ID: 12784297 [TBL] [Abstract][Full Text] [Related]
14. Connection between elastin haploinsufficiency and increased cell proliferation in patients with supravalvular aortic stenosis and Williams-Beuren syndrome. Urbán Z; Riazi S; Seidl TL; Katahira J; Smoot LB; Chitayat D; Boyd CD; Hinek A Am J Hum Genet; 2002 Jul; 71(1):30-44. PubMed ID: 12016585 [TBL] [Abstract][Full Text] [Related]
15. Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Dutly F; Schinzel A Hum Mol Genet; 1996 Dec; 5(12):1893-8. PubMed ID: 8968740 [TBL] [Abstract][Full Text] [Related]
16. Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome. Brewer CM; Morrison N; Tolmie JL Arch Dis Child; 1996 Jan; 74(1):59-61. PubMed ID: 8660051 [TBL] [Abstract][Full Text] [Related]
17. Williams syndrome and the elastin gene in Thai patients. Ruangdaraganon N; Tocharoentanaphol C; Kotchabhakdi N; Khowsathit P J Med Assoc Thai; 1999 Nov; 82 Suppl 1():S174-8. PubMed ID: 10730539 [TBL] [Abstract][Full Text] [Related]
18. Fluorescent in situ hybridisation (FISH) for hemizygous deletion at the elastin locus in patients with isolated supravalvular aortic stenosis. Fryssira H; Palmer R; Hallidie-Smith KA; Taylor J; Donnai D; Reardon W J Med Genet; 1997 Apr; 34(4):306-8. PubMed ID: 9138154 [TBL] [Abstract][Full Text] [Related]
19. On the trail of genetic culprits in Williams syndrome. Keating MT Cardiovasc Res; 1997 Nov; 36(2):134-7. PubMed ID: 9463625 [No Abstract] [Full Text] [Related]
20. Intracranial arteries in individuals with the elastin gene hemideletion of Williams syndrome. Wint DP; Butman JA; Masdeu JC; Meyer-Lindenberg A; Mervis CB; Sarpal D; Morris CA; Berman KF AJNR Am J Neuroradiol; 2014 Jan; 35(1):90-4. PubMed ID: 23868161 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]