429 related articles for article (PubMed ID: 33045407)
1. An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.
Evangelidou P; Kousoulidou L; Salameh N; Alexandrou A; Papaevripidou I; Alexandrou IM; Ketoni A; Ioannidou C; Christophidou-Anastasiadou V; Tanteles GA; Sismani C
Eur J Med Genet; 2020 Dec; 63(12):104084. PubMed ID: 33045407
[TBL] [Abstract][Full Text] [Related]
2. [Genetic analysis of a child with atypical Williams-Beuren syndrome presenting as supravalvular aortic stenosis].
Wu D; Zhang M; Gao Y; Huo X; Xiao H; Zhang Q; Kang B; Wang X; Liao S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr; 37(4):475-478. PubMed ID: 32219841
[TBL] [Abstract][Full Text] [Related]
3. Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.
Dutra RL; Piazzon FB; Zanardo ÉA; Costa TV; Montenegro MM; Novo-Filho GM; Dias AT; Nascimento AM; Kim CA; Kulikowski LD
Am J Med Genet A; 2015 Dec; 167A(12):3197-203. PubMed ID: 26420477
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Atypical 22q11.2 Microduplication with "Typical" Signs and Overgrowth.
Fischer M; Klopocki E
Cytogenet Genome Res; 2020; 160(11-12):659-663. PubMed ID: 33472199
[TBL] [Abstract][Full Text] [Related]
6. An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.
Pebrel-Richard C; Kemeny S; Gouas L; Eymard-Pierre E; Blanc N; Francannet C; Tchirkov A; Goumy C; Vago P
Eur J Med Genet; 2012 Nov; 55(11):650-5. PubMed ID: 22796526
[TBL] [Abstract][Full Text] [Related]
7. Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.
Chang J; Zhao L; Chen C; Peng Y; Xia Y; Tang G; Bai T; Zhang Y; Ma R; Guo R; Mei L; Liang D; Cao Q; Wu L
Gene; 2015 Sep; 569(1):46-50. PubMed ID: 26099517
[TBL] [Abstract][Full Text] [Related]
8. [Detection of a Williams Beuren syndrome case by MLPA].
Laurito S; Branham T; Herrero G; Marsa S; Garro F; Roqué M
Medicina (B Aires); 2013; 73(1):47-50. PubMed ID: 23335707
[TBL] [Abstract][Full Text] [Related]
9. Microduplications in 22q11.2 and 8q22.1 associated with mild mental retardation and generalized overgrowth.
Tarsitano M; Ceglia C; Novelli A; Capalbo A; Lombardo B; Pastore L; Fioretti G; Vicari L; Pisanti MA; Friso P; Cavaliere ML
Gene; 2014 Feb; 536(1):213-6. PubMed ID: 24315824
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases.
Vaz SO; Pires R; Pires LM; Carreira IM; Anjos R; Maciel P; Mota-Vieira L
BMC Pediatr; 2015 Aug; 15():95. PubMed ID: 26297018
[TBL] [Abstract][Full Text] [Related]
12. A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.
Chen CP; Lin SP; Chern SR; Wu PS; Su JW; Lee CC; Wang W
Taiwan J Obstet Gynecol; 2014 Mar; 53(1):74-8. PubMed ID: 24767651
[TBL] [Abstract][Full Text] [Related]
13. Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India.
Sharma P; Gupta N; Chowdhury MR; Phadke SR; Sapra S; Halder A; Ghosh M; Kabra M
Cytogenet Genome Res; 2015; 146(3):187-94. PubMed ID: 26352091
[TBL] [Abstract][Full Text] [Related]
14. Distal 22q11.2 microduplication combined with typical 22q11.2 proximal deletion: a case report.
Molck MC; Vieira TP; Simioni M; Sgardioli IC; dos Santos AP; Xavier AC; Gil-da-Silva-Lopes VL
Am J Med Genet A; 2015 Jan; 167A(1):215-20. PubMed ID: 25358462
[TBL] [Abstract][Full Text] [Related]
15. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
Koczkowska M; Wierzba J; Śmigiel R; Sąsiadek M; Cabała M; Ślężak R; Iliszko M; Kardaś I; Limon J; Lipska-Ziętkiewicz BS
J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.
Dupont C; Grati FR; Choy KW; Jaillard S; Toutain J; Maurin ML; Martínez-Conejero JA; Beneteau C; Coussement A; Molina-Gomes D; Horelli-Kuitunen N; Aboura A; Tabet AC; Besseau-Ayasse J; Bessieres-Grattagliano B; Simoni G; Ayala G; Benzacken B; Vialard F
Prenat Diagn; 2015 Jan; 35(1):35-43. PubMed ID: 25118001
[TBL] [Abstract][Full Text] [Related]
18. [Genotype and phenotype study of two patients with 22q11.2 deletion syndrome].
Zhu H; Wang A; Zhang H; Ji C; Zhan X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct; 31(5):623-7. PubMed ID: 25297596
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. FISH analysis in both classical and atypical cases of Williams-Beuren syndrome.
Hou JW; Wang JK; Wang TR
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1998; 39(6):398-403. PubMed ID: 9926515
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
