384 related articles for article (PubMed ID: 26099517)
1. 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]
2. 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]
3. 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]
4. 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]
5. Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.
Woodward KJ; Stampalia J; Vanyai H; Rijhumal H; Potts K; Taylor F; Peverall J; Grumball T; Sivamoorthy S; Alinejad-Rokny H; Wray J; Whitehouse A; Nagarajan L; Scurlock J; Afchani S; Edwards M; Murch A; Beilby J; Baynam G; Kiraly-Borri C; McKenzie F; Heng JIT
Mol Genet Genomic Med; 2019 Feb; 7(2):e00507. PubMed ID: 30614210
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events.
Bi W; Probst FJ; Wiszniewska J; Plunkett K; Roney EK; Carter BS; Williams MD; Stankiewicz P; Patel A; Stevens CA; Lupski JR; Cheung SW
J Med Genet; 2012 Nov; 49(11):681-8. PubMed ID: 23042811
[TBL] [Abstract][Full Text] [Related]
11. 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.
Portnoï MF; Lebas F; Gruchy N; Ardalan A; Biran-Mucignat V; Malan V; Finkel L; Roger G; Ducrocq S; Gold F; Taillemite JL; Marlin S
Am J Med Genet A; 2005 Aug; 137(1):47-51. PubMed ID: 16007629
[TBL] [Abstract][Full Text] [Related]
12. Falciform macular folds and chromosome 22q11.2: evidence in support of a locus for familial exudative vitreoretinopathy (FEVR).
Gandhi JK; Tollefson TT; Telander DG
Ophthalmic Genet; 2014 Jun; 35(2):112-6. PubMed ID: 23521024
[TBL] [Abstract][Full Text] [Related]
13. Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.
Brunet A; Gabau E; Perich RM; Valdesoiro L; Brun C; Caballín MR; Guitart M
Am J Med Genet A; 2006 Nov; 140(22):2426-32. PubMed ID: 17041934
[TBL] [Abstract][Full Text] [Related]
14. Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study.
Ramelli GP; Silacci C; Ferrarini A; Cattaneo C; Visconti P; Pescia G
Dev Med Child Neurol; 2008 Dec; 50(12):953-5. PubMed ID: 19046189
[TBL] [Abstract][Full Text] [Related]
15. 15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
Huynh MT; Lambert AS; Tosca L; Petit F; Philippe C; Parisot F; Benoît V; Linglart A; Brisset S; Tran CT; Tachdjian G; Receveur A
Eur J Med Genet; 2018 Aug; 61(8):459-464. PubMed ID: 29549028
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech.
Soysal Y; Vermeesch J; Davani NA; Şensoy N; Hekimler K; İmirzalıoğlu N
Genet Mol Res; 2011 Sep; 10(3):2148-54. PubMed ID: 21968682
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Chromosome 17q12 duplications: Further delineation of the range of psychiatric and clinical phenotypes.
Kamath A; Linden SC; Evans FM; Hall J; Jose SF; Spillane SA; Hardie ADR; Morgan SM; Pilz DT
Am J Med Genet B Neuropsychiatr Genet; 2018 Jul; 177(5):520-528. PubMed ID: 30134084
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
