273 related articles for article (PubMed ID: 20030804)
1. BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1.
Brunet A; Armengol L; Heine D; Rosell J; García-Aragonés M; Gabau E; Estivill X; Guitart M
BMC Med Genet; 2009 Dec; 10():144. PubMed ID: 20030804
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.
Wang HD; Liu L; Wu D; Li T; Cui CY; Zhang LZ; Wang CZ
J Gene Med; 2017 Apr; 19(4):. PubMed ID: 28220983
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Screening of copy number variants in the 22q11.2 region of congenital heart disease patients from the São Miguel Island, Azores, revealed the second patient with a triplication.
Pires R; Pires LM; Vaz SO; Maciel P; Anjos R; Moniz R; Branco CC; Cabral R; Carreira IM; Mota-Vieira L
BMC Genet; 2014 Nov; 15():115. PubMed ID: 25376777
[TBL] [Abstract][Full Text] [Related]
7. Detailed analysis of 22q11.2 with a high density MLPA probe set.
Jalali GR; Vorstman JA; Errami A; Vijzelaar R; Biegel J; Shaikh T; Emanuel BS
Hum Mutat; 2008 Mar; 29(3):433-40. PubMed ID: 18033723
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
Ben-Shachar S; Ou Z; Shaw CA; Belmont JW; Patel MS; Hummel M; Amato S; Tartaglia N; Berg J; Sutton VR; Lalani SR; Chinault AC; Cheung SW; Lupski JR; Patel A
Am J Hum Genet; 2008 Jan; 82(1):214-21. PubMed ID: 18179902
[TBL] [Abstract][Full Text] [Related]
10. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH.
Bittel DC; Yu S; Newkirk H; Kibiryeva N; Holt A; Butler MG; Cooley LD
Cytogenet Genome Res; 2009; 124(2):113-20. PubMed ID: 19420922
[TBL] [Abstract][Full Text] [Related]
11. Clinical presentation and genetic profiles of Chinese patients with velocardiofacial syndrome in a large referral centre.
Wu D; Chen Y; Chen Q; Wang G; Xu X; Peng A; Hao J; He J; Huang L; Dai J
J Genet; 2019 Jun; 98(2):. PubMed ID: 31204702
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Detection of single clone deletions using array CGH: identification of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system.
Tokuyasu TA; Cotter PD; Segraves R; Harris J; Elder ME; Gonzales M; Pinkel D; Albertson DG; Rauen KA
Am J Med Genet A; 2007 May; 143A(9):925-32. PubMed ID: 17394204
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Characteristic face: a key indicator for direct diagnosis of 22q11.2 deletions in Chinese velocardiofacial syndrome patients.
Wu D; Chen Y; Xu C; Wang K; Wang H; Zheng F; Ma D; Wang G
PLoS One; 2013; 8(1):e54404. PubMed ID: 23342150
[TBL] [Abstract][Full Text] [Related]
16. Use of Array Comparative Genomic Hybridization for the Diagnosis of DiGeorge Syndrome in Saudi Arabian Population.
Bahamat AA; Assidi M; Lary SA; Almughamsi MM; Peer Zada AA; Chaudhary A; Abuzenadah A; Abu-Elmagd M; Al-Qahtani M
Cytogenet Genome Res; 2018; 154(1):20-29. PubMed ID: 29455205
[TBL] [Abstract][Full Text] [Related]
17. Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a 1.5-Mb region of overlap on chromosome 22q11.
Funke B; Edelmann L; McCain N; Pandita RK; Ferreira J; Merscher S; Zohouri M; Cannizzaro L; Shanske A; Morrow BE
Am J Hum Genet; 1999 Mar; 64(3):747-58. PubMed ID: 10053009
[TBL] [Abstract][Full Text] [Related]
18. De novo Unbalanced 1;22 Translocation with 22q11 Deletion Syndrome.
Vittas S; Efstathiou G; Tsakalidis C; Malamaki C; Antari V; Chatzitoliou E; Chatziioannidis I; Galli-Tsinopoulou A; Soubasi V
Cytogenet Genome Res; 2019; 158(1):32-37. PubMed ID: 30799418
[TBL] [Abstract][Full Text] [Related]
19. Prenatal diagnosis and molecular cytogenetic characterization of chromosome 22q11.2 deletion syndrome associated with congenital heart defects.
Kuo YL; Chen CP; Wang LK; Ko TM; Chang TY; Chern SR; Wu PS; Chen YT; Chang SY
Taiwan J Obstet Gynecol; 2014 Jun; 53(2):248-51. PubMed ID: 25017279
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
