166 related articles for article (PubMed ID: 22369319)
1. 7q11.23 Microduplication: a recognizable phenotype.
Dixit A; McKee S; Mansour S; Mehta SG; Tanteles GA; Anastasiadou V; Patsalis PC; Martin K; McCullough S; Suri M; Sarkar A
Clin Genet; 2013 Feb; 83(2):155-61. PubMed ID: 22369319
[TBL] [Abstract][Full Text] [Related]
2. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
Van der Aa N; Rooms L; Vandeweyer G; van den Ende J; Reyniers E; Fichera M; Romano C; Delle Chiaie B; Mortier G; Menten B; Destrée A; Maystadt I; Männik K; Kurg A; Reimand T; McMullan D; Oley C; Brueton L; Bongers EM; van Bon BW; Pfund R; Jacquemont S; Ferrarini A; Martinet D; Schrander-Stumpel C; Stegmann AP; Frints SG; de Vries BB; Ceulemans B; Kooy RF
Eur J Med Genet; 2009; 52(2-3):94-100. PubMed ID: 19249392
[TBL] [Abstract][Full Text] [Related]
3. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
Berg JS; Brunetti-Pierri N; Peters SU; Kang SH; Fong CT; Salamone J; Freedenberg D; Hannig VL; Prock LA; Miller DT; Raffalli P; Harris DJ; Erickson RP; Cunniff C; Clark GD; Blazo MA; Peiffer DA; Gunderson KL; Sahoo T; Patel A; Lupski JR; Beaudet AL; Cheung SW
Genet Med; 2007 Jul; 9(7):427-41. PubMed ID: 17666889
[TBL] [Abstract][Full Text] [Related]
4. Reciprocal Microduplication of the Williams-Beuren Syndrome Chromosome Region in a 9-Year-Old Omani Boy.
Mohan S; Nampoothiri S; Yesodharan D; Venkatesan V; Koshy T; Paul SF; Perumal V
Lab Med; 2016 May; 47(2):171-5. PubMed ID: 27069036
[TBL] [Abstract][Full Text] [Related]
5. Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.
Torniero C; Dalla Bernardina B; Novara F; Cerini R; Bonaglia C; Pramparo T; Ciccone R; Guerrini R; Zuffardi O
Eur J Hum Genet; 2008 Aug; 16(8):880-7. PubMed ID: 18337728
[TBL] [Abstract][Full Text] [Related]
6. A case of 8q22.1 microdeletion without the Nablus mask-like facial syndrome phenotype.
Jain S; Yang P; Farrell SA
Eur J Med Genet; 2010; 53(2):108-10. PubMed ID: 20074678
[TBL] [Abstract][Full Text] [Related]
7. Aortopathy in the 7q11.23 microduplication syndrome.
Parrott A; James J; Goldenberg P; Hinton RB; Miller E; Shikany A; Aylsworth AS; Kaiser-Rogers K; Ferns SJ; Lalani SR; Ware SM
Am J Med Genet A; 2015 Feb; 167A(2):363-70. PubMed ID: 25428557
[TBL] [Abstract][Full Text] [Related]
8. Presenting phenotype and clinical evaluation in a cohort of 22 Williams-Beuren syndrome patients.
Ferrero GB; Biamino E; Sorasio L; Banaudi E; Peruzzi L; Forzano S; di Cantogno LV; Silengo MC
Eur J Med Genet; 2007; 50(5):327-37. PubMed ID: 17625998
[TBL] [Abstract][Full Text] [Related]
9. Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome.
Ghaffari M; Tahmasebi Birgani M; Kariminejad R; Saberi A
Ann Hum Genet; 2018 Nov; 82(6):469-476. PubMed ID: 30155880
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. [Williams syndrome (microdeletion 7q11.23), model of behavioral phenotype].
Battin J; Lacombe D; Taine L; Goizet C
Bull Acad Natl Med; 2000; 184(1):105-15; discussion 115-6. PubMed ID: 10989534
[TBL] [Abstract][Full Text] [Related]
12. Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.
Honjo RS; Dutra RL; Furusawa EA; Zanardo EA; Costa LS; Kulikowski LD; Bertola DR; Kim CA
Biomed Res Int; 2015; 2015():903175. PubMed ID: 26090456
[TBL] [Abstract][Full Text] [Related]
13. A 7q11.23 microduplication patient with cerebral palsy and facial dysmorphism.
Değerliyurt A; Ceylaner S; Ozdağ H
Genet Couns; 2012; 23(2):263-7. PubMed ID: 22876586
[TBL] [Abstract][Full Text] [Related]
14. A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.
Boudry-Labis E; Demeer B; Le Caignec C; Isidor B; Mathieu-Dramard M; Plessis G; George AM; Taylor J; Aftimos S; Wiemer-Kruel A; Kohlhase J; Annerén G; Firth H; Simonic I; Vermeesch J; Thuresson AC; Copin H; Love DR; Andrieux J
Eur J Med Genet; 2013 Mar; 56(3):163-70. PubMed ID: 23279911
[TBL] [Abstract][Full Text] [Related]
15. Research Review: Williams syndrome: a critical review of the cognitive, behavioral, and neuroanatomical phenotype.
Martens MA; Wilson SJ; Reutens DC
J Child Psychol Psychiatry; 2008 Jun; 49(6):576-608. PubMed ID: 18489677
[TBL] [Abstract][Full Text] [Related]
16. A triplication of the Williams-Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms.
Beunders G; van de Kamp JM; Veenhoven RH; van Hagen JM; Nieuwint AW; Sistermans EA
J Med Genet; 2010 Apr; 47(4):271-5. PubMed ID: 19752158
[TBL] [Abstract][Full Text] [Related]
17. Phenotype of 7q11.23 duplication: A family clinical series.
Earhart BA; Williams ME; Zamora I; Randolph LM; Votava-Smith JK; Marcy SN
Am J Med Genet A; 2017 Jan; 173(1):114-119. PubMed ID: 27615053
[TBL] [Abstract][Full Text] [Related]
18. 7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder.
Castiglia L; Husain RA; Marquardt I; Fink C; Liehr T; Serino D; Elia M; Coci EG
J Intellect Disabil Res; 2018 May; 62(5):359-370. PubMed ID: 29266505
[TBL] [Abstract][Full Text] [Related]
19. Williams-Beuren syndrome in the Hong Kong Chinese population: retrospective study.
Yau EK; Lo IF; Lam ST
Hong Kong Med J; 2004 Feb; 10(1):22-7. PubMed ID: 14967851
[TBL] [Abstract][Full Text] [Related]
20. [Williams syndrome: its clinical aspects and molecular bases].
Antonell A; Del Campo M; Flores R; Campuzano V; Perez-Jurado LA
Rev Neurol; 2006 Jan; 42 Suppl 1():S69-75. PubMed ID: 16506136
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
