338 related articles for article (PubMed ID: 23335707)
21. Keratoconus associated with Williams-Beuren syndrome: first case reports.
Pinsard L; Touboul D; Vu Y; Lacombe D; Leger F; Colin J
Ophthalmic Genet; 2010 Dec; 31(4):252-6. PubMed ID: 21067490
[TBL] [Abstract][Full Text] [Related]
22. Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.
Dutra RL; Pieri Pde C; Teixeira AC; Honjo RS; Bertola DR; Kim CA
Clinics (Sao Paulo); 2011; 66(6):959-64. PubMed ID: 21808859
[TBL] [Abstract][Full Text] [Related]
23. Williams-Beuren syndrome diagnosis using fluorescence in situ hybridization.
Osborne LR; Joseph-George AM; Scherer SW
Methods Mol Med; 2006; 126():113-28. PubMed ID: 16930009
[TBL] [Abstract][Full Text] [Related]
24. [Clinical aspects and genetics of Williams-Beuren syndrome. Clinical and molecular genetic study of 44 patients with suspected Williams-Beuren syndrome].
von Beust G; Laccone FA; del Pilar Andrino M; Wessel A
Klin Padiatr; 2000; 212(6):299-307. PubMed ID: 11190824
[TBL] [Abstract][Full Text] [Related]
25. A new diagnosis of Williams-Beuren syndrome in a 49-year-old man with severe bullous emphysema.
Wojcik MH; Carmichael N; Bieber FR; Wiener DC; Madan R; Pober BR; Raby BA
Am J Med Genet A; 2017 Aug; 173(8):2235-2239. PubMed ID: 28574231
[TBL] [Abstract][Full Text] [Related]
26. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions.
Kirchhoff M; Bisgaard AM; Bryndorf T; Gerdes T
Eur J Med Genet; 2007; 50(1):33-42. PubMed ID: 17090394
[TBL] [Abstract][Full Text] [Related]
27. Molecular and phenotypic characterization of atypical Williams-Beuren syndrome.
Euteneuer J; Carvalho CM; Kulkarni S; Vineyard M; Grady RM; Lupski JR; Shinawi M
Clin Genet; 2014 Nov; 86(5):487-91. PubMed ID: 24246242
[TBL] [Abstract][Full Text] [Related]
28. A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.
Plaja A; Castells N; Cueto-González AM; del Campo M; Vendrell T; Lloveras E; Izquierdo L; Borregan M; Rodríguez-Santiago B; Carrió A; Miró R; Tizzano E
Cytogenet Genome Res; 2015; 146(3):181-6. PubMed ID: 26382598
[TBL] [Abstract][Full Text] [Related]
29. [Clinical and genetic characteristics of Williams-Beuren syndrome: 2 cases report].
Wang SQ; Yang ZX; Li H
Beijing Da Xue Xue Bao Yi Xue Ban; 2017 Oct; 49(5):899-903. PubMed ID: 29045977
[TBL] [Abstract][Full Text] [Related]
30. Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.
Scherer SW; Gripp KW; Lucena J; Nicholson L; Bonnefont JP; Pérez-Jurado LA; Osborne LR
Hum Genet; 2005 Aug; 117(4):383-8. PubMed ID: 15933846
[TBL] [Abstract][Full Text] [Related]
31. Williams-Beuren syndrome in Mexican patients confirmed by FISH and assessed by aCGH.
Ramírez-Velazco A; Aguayo-Orozco TA; Figuera L; Rivera H; Jave-Suárez L; Aguilar-Lemarroy A; Torres-Reyes LA; Córdova-Fletes C; Barros-Núñez P; Delgadillo-Pérez S; Dávalos-Rodríguez IP; García-Ortiz JE; Domínguez MG
J Genet; 2019 Jun; 98(2):. PubMed ID: 31204697
[TBL] [Abstract][Full Text] [Related]
32. A rare case of discrete aortic coarctation in Williams-Beuren syndrome. Diagnostic and therapeutic considerations.
Mannarino S; Keizman E; Pasotti M; Codazzi AC; De Sando E; Giamberti A
Pediatr Med Chir; 2015 Sep; 37(2):pmc.2015.120. PubMed ID: 26429123
[TBL] [Abstract][Full Text] [Related]
33. Autistic disorder in patients with Williams-Beuren syndrome: a reconsideration of the Williams-Beuren syndrome phenotype.
Tordjman S; Anderson GM; Botbol M; Toutain A; Sarda P; Carlier M; Saugier-Veber P; Baumann C; Cohen D; Lagneaux C; Tabet AC; Verloes A
PLoS One; 2012; 7(3):e30778. PubMed ID: 22412832
[TBL] [Abstract][Full Text] [Related]
34. Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.
Metcalfe K; Simeonov E; Beckett W; Donnai D; Tassabehji M
Clin Dysmorphol; 2005 Apr; 14(2):61-65. PubMed ID: 15770126
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. [Williams-Beuren syndrome: a multidisciplinary approach].
Lacroix A; Pezet M; Capel A; Bonnet D; Hennequin M; Jacob MP; Bricca G; Couet D; Faury G; Bernicot J; Gilbert-Dussardier B
Arch Pediatr; 2009 Mar; 16(3):273-82. PubMed ID: 19097873
[TBL] [Abstract][Full Text] [Related]
37. The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.
Duba HC; Doll A; Neyer M; Erdel M; Mann C; Hammerer I; Utermann G; Grzeschik KH
Eur J Hum Genet; 2002 Jun; 10(6):351-61. PubMed ID: 12080386
[TBL] [Abstract][Full Text] [Related]
38. Cardiovascular spectrum in Williams-Beuren syndrome: the Mexican experience in 40 patients.
De Rubens Figueroa J; Rodríguez LM; Hach JL; Del Castillo Ruíz V; Martínez HO
Tex Heart Inst J; 2008; 35(3):279-85. PubMed ID: 18941598
[TBL] [Abstract][Full Text] [Related]
39. Chromosomal Microarray Analysis in Taiwanese Patients with Williams-Beuren Syndrome.
Kuo HT; Chen CH; Lin CY; Chang YS; Chang JG
Cytogenet Genome Res; 2019; 159(4):182-189. PubMed ID: 31931504
[TBL] [Abstract][Full Text] [Related]
40. An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
Ferrero GB; Howald C; Micale L; Biamino E; Augello B; Fusco C; Turturo MG; Forzano S; Reymond A; Merla G
Eur J Hum Genet; 2010 Jan; 18(1):33-8. PubMed ID: 19568270
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
