152 related articles for article (PubMed ID: 16691586)
41. Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.
Nicita F; Garone G; Spalice A; Savasta S; Striano P; Pantaleoni C; Spartà MV; Kluger G; Capovilla G; Pruna D; Freri E; D'Arrigo S; Verrotti A
Am J Med Genet A; 2016 Jan; 170A(1):148-55. PubMed ID: 26437767
[TBL] [Abstract][Full Text] [Related]
42. Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome.
Hobart HH; Morris CA; Mervis CB; Pani AM; Kistler DJ; Rios CM; Kimberley KW; Gregg RG; Bray-Ward P
Am J Med Genet C Semin Med Genet; 2010 May; 154C(2):220-8. PubMed ID: 20425783
[TBL] [Abstract][Full Text] [Related]
43. Microdeletion oe chromosomal region 7Q11.23 in Williams syndrome.
Hou JW; Wang JK; Wang TR
J Formos Med Assoc; 1997 Feb; 96(2):137-40. PubMed ID: 9071842
[TBL] [Abstract][Full Text] [Related]
44. Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia.
Kasper BS; Kurzbuch K; Chang BS; Pauli E; Hamer HM; Winkler J; Hehr U
Am J Med Genet A; 2013 Jun; 161A(6):1323-8. PubMed ID: 23636902
[TBL] [Abstract][Full Text] [Related]
45. Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.
Wu YQ; Sutton VR; Nickerson E; Lupski JR; Potocki L; Korenberg JR; Greenberg F; Tassabehji M; Shaffer LG
Am J Med Genet; 1998 Jun; 78(1):82-9. PubMed ID: 9637430
[TBL] [Abstract][Full Text] [Related]
46. Williams Syndrome: development of a new scoring system for clinical diagnosis.
Sugayama SM; Leone C; Chauffaille Mde L; Okay TS; Kim CA
Clinics (Sao Paulo); 2007 Apr; 62(2):159-66. PubMed ID: 17505701
[TBL] [Abstract][Full Text] [Related]
47. 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]
48. Assessment of clinical scoring systems for the diagnosis of Williams-Beuren syndrome.
Leme DE; Souza DH; Mercado G; Pastene E; Dias A; Moretti-Ferreira D
Genet Mol Res; 2013 Sep; 12(3):3407-11. PubMed ID: 24065682
[TBL] [Abstract][Full Text] [Related]
49. Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.
Botta A; Novelli G; Mari A; Novelli A; Sabani M; Korenberg J; Osborne LR; Digilio MC; Giannotti A; Dallapiccola B
J Med Genet; 1999 Jun; 36(6):478-80. PubMed ID: 10874638
[TBL] [Abstract][Full Text] [Related]
50. A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.
Palenzuela L; Andreu AL; Gàmez J; Vilà MR; Kunimatsu T; Meseguer A; Cervera C; Fernandez Cadenas I; van der Ven PF; Nygaard TG; Bonilla E; Hirano M
Neurology; 2003 Aug; 61(3):404-6. PubMed ID: 12913210
[TBL] [Abstract][Full Text] [Related]
51. Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome.
Wouters CH; Meijers-Heijboer HJ; Eussen BJ; van der Heide AA; van Luijk RB; van Drunen E; Beverloo BB; Visscher F; Van Hemel JO
Am J Med Genet; 2001 Aug; 102(3):261-5. PubMed ID: 11484204
[TBL] [Abstract][Full Text] [Related]
52. 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]
53. Williams-Beuren syndrome: diagnosis by polymorphic markers.
Sbruzzi IC; Pereira AC; Vasconcelos B; Honjo RS; Krieger JE; Kim CA
Genet Test Mol Biomarkers; 2010 Apr; 14(2):209-14. PubMed ID: 20136526
[TBL] [Abstract][Full Text] [Related]
54. A new case of keratoconus associated with Williams-Beuren syndrome.
Viana MM; Frasson M; Leão LL; Stofanko M; Gonçalves-Dornelas H; Cunha Pda S; de Aguiar MJ
Ophthalmic Genet; 2013 Sep; 34(3):174-7. PubMed ID: 23167938
[TBL] [Abstract][Full Text] [Related]
55. De novo 46,XX,t(6;7)(q27;q11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome.
von Dadelszen P; Chitayat D; Winsor EJ; Cohen H; MacDonald C; Taylor G; Rose T; Hornberger LK
Am J Med Genet; 2000 Feb; 90(4):270-5. PubMed ID: 10710222
[TBL] [Abstract][Full Text] [Related]
56. A physical map, including a BAC/PAC clone contig, of the Williams-Beuren syndrome--deletion region at 7q11.23.
Peoples R; Franke Y; Wang YK; Pérez-Jurado L; Paperna T; Cisco M; Francke U
Am J Hum Genet; 2000 Jan; 66(1):47-68. PubMed ID: 10631136
[TBL] [Abstract][Full Text] [Related]
57. Williams-Beuren syndrome and West "syndrome:" causal association or contiguous gene deletion syndrome?
Tercero MF; Cabrera López JC; Herrero MM; Rodríguez-Quiñones F
Am J Med Genet A; 2005 Mar; 133A(2):213-5. PubMed ID: 15633183
[No Abstract] [Full Text] [Related]
58. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
Fox JW; Lamperti ED; Ekşioğlu YZ; Hong SE; Feng Y; Graham DA; Scheffer IE; Dobyns WB; Hirsch BA; Radtke RA; Berkovic SF; Huttenlocher PR; Walsh CA
Neuron; 1998 Dec; 21(6):1315-25. PubMed ID: 9883725
[TBL] [Abstract][Full Text] [Related]
59. Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex.
Kakita A; Hayashi S; Moro F; Guerrini R; Ozawa T; Ono K; Kameyama S; Walsh CA; Takahashi H
Acta Neuropathol; 2002 Dec; 104(6):649-57. PubMed ID: 12410386
[TBL] [Abstract][Full Text] [Related]
60. Assignment of human filamin gene FLNB to human chromosome band 3p14.3 and identification of YACs containing the complete FLNB transcribed region.
Bröcker F; Bardenheuer W; Vieten L; Jülicher K; Werner N; Marquitan G; Michael D; Opalka B; Schütte J
Cytogenet Cell Genet; 1999; 85(3-4):267-8. PubMed ID: 10449914
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
