144 related articles for article (PubMed ID: 11480765)
1. The 22q11.2 deletion syndrome.
Emanuel BS; McDonald-McGinn D; Saitta SC; Zackai EH
Adv Pediatr; 2001; 48():39-73. PubMed ID: 11480765
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.
Cirillo E; Giardino G; Gallo V; Puliafito P; Azzari C; Bacchetta R; Cardinale F; Cicalese MP; Consolini R; Martino S; Martire B; Molinatto C; Plebani A; Scarano G; Soresina A; Cancrini C; Rossi P; Digilio MC; Pignata C
BMC Med Genet; 2014 Jan; 15():1. PubMed ID: 24383682
[TBL] [Abstract][Full Text] [Related]
4. 22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features.
Burnside RD
Cytogenet Genome Res; 2015; 146(2):89-99. PubMed ID: 26278718
[TBL] [Abstract][Full Text] [Related]
5. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.
Ensenauer RE; Adeyinka A; Flynn HC; Michels VV; Lindor NM; Dawson DB; Thorland EC; Lorentz CP; Goldstein JL; McDonald MT; Smith WE; Simon-Fayard E; Alexander AA; Kulharya AS; Ketterling RP; Clark RD; Jalal SM
Am J Hum Genet; 2003 Nov; 73(5):1027-40. PubMed ID: 14526392
[TBL] [Abstract][Full Text] [Related]
6. 22q11.2 Deletion Syndrome: Influence of Parental Origin on Clinical Heterogeneity.
de Wallau MB; Xavier AC; Moreno CA; Kim CA; Mendes EL; Ribeiro EM; Oliveira A; Félix TM; Fett-Conte AC; Bonadia LC; Correia-Costa GR; Monlleó IL; Gil-da-Silva-Lopes VL; Vieira TP
Genes (Basel); 2024 Apr; 15(4):. PubMed ID: 38674452
[TBL] [Abstract][Full Text] [Related]
7. The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome.
Grand K; Levitt Katz LE; Crowley TB; Moss E; Lessig M; Bamba V; Lord K; Zackai EH; Emanuel BS; Valverde K; McDonald-McGinn DM
Am J Med Genet A; 2018 Oct; 176(10):2167-2171. PubMed ID: 30380188
[TBL] [Abstract][Full Text] [Related]
8. The 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan.
Jonas RK; Montojo CA; Bearden CE
Biol Psychiatry; 2014 Mar; 75(5):351-60. PubMed ID: 23992925
[TBL] [Abstract][Full Text] [Related]
9. Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Vong KI; Lee S; Au KS; Crowley TB; Capra V; Martino J; Haller M; Araújo C; Machado HR; George R; Gerding B; James KN; Stanley V; Jiang N; Alu K; Meave N; Nidhiry AS; Jiwani F; Tang I; Nisal A; Jhamb I; Patel A; Patel A; McEvoy-Venneri J; Barrows C; Shen C; Ha YJ; Howarth R; Strain M; Ashley-Koch AE; Azam M; Mumtaz S; Bot GM; Finnell RH; Kibar Z; Marwan AI; Melikishvili G; Meltzer HS; Mutchinick OM; Stevenson DA; Mroczkowski HJ; Ostrander B; Schindewolf E; Moldenhauer J; Zackai EH; Emanuel BS; Garcia-Minaur S; Nowakowska BA; Stevenson RE; Zaki MS; Northrup H; McNamara HK; Aldinger KA; Phelps IG; Deng M; Glass IA; ; Morrow B; McDonald-McGinn DM; Sanna-Cherchi S; Lamb DJ; Gleeson JG
Science; 2024 May; 384(6695):584-590. PubMed ID: 38696583
[TBL] [Abstract][Full Text] [Related]
10. Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome.
Nunes N; Carvalho Nunes B; Zamariolli M; Cordeiro de Queiroz Soares D; Caires Dos Santos L; Gollo Dantas A; Ayres Meloni V; Iole Belangero S; Gil-Da-Silva-Lopes VL; Ae Kim C; Melaragno MI
Genet Res (Camb); 2024; 2024():5549592. PubMed ID: 38586596
[TBL] [Abstract][Full Text] [Related]
11. Young adults with a 22q11.2 microdeletion and the cost of aging with complexity in a population-based context.
Malecki SL; Heung T; Wodchis WP; Saskin R; Palma L; Verma AA; Bassett AS
Genet Med; 2024 May; 26(5):101088. PubMed ID: 38310401
[TBL] [Abstract][Full Text] [Related]
12. Reproductive Health Issues for Adults with a Common Genomic Disorder: 22q11.2 Deletion Syndrome.
Chan C; Costain G; Ogura L; Silversides CK; Chow EW; Bassett AS
J Genet Couns; 2015 Oct; 24(5):810-21. PubMed ID: 25579115
[TBL] [Abstract][Full Text] [Related]
13. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
McDonald-McGinn DM; Sullivan KE
Medicine (Baltimore); 2011 Jan; 90(1):1-18. PubMed ID: 21200182
[TBL] [Abstract][Full Text] [Related]
14. 22q11.2 deletion syndrome.
McDonald-McGinn DM; Sullivan KE; Marino B; Philip N; Swillen A; Vorstman JA; Zackai EH; Emanuel BS; Vermeesch JR; Morrow BE; Scambler PJ; Bassett AS
Nat Rev Dis Primers; 2015 Nov; 1():15071. PubMed ID: 27189754
[TBL] [Abstract][Full Text] [Related]
15. 22q11.2 deletion syndrome: 20 years of experience from two pediatric immunology units and review of clues for diagnosis and disease management.
Ozen S; Akcal O; Taskirdi I; Haci IA; Karaca NE; Gulez N; Aksu G; Genel F; Kutukculer N
Allergol Immunopathol (Madr); 2021; 49(1):95-100. PubMed ID: 33528935
[TBL] [Abstract][Full Text] [Related]
16. Genetic outcomes in children with developmental language disorder: a systematic review.
van Wijngaarden V; de Wilde H; Mink van der Molen D; Petter J; Stegeman I; Gerrits E; Smit AL; van den Boogaard MJ
Front Pediatr; 2024; 12():1315229. PubMed ID: 38298611
[TBL] [Abstract][Full Text] [Related]
17. 22q11 Copy Number Variations in a Brazilian Cohort of Children with Congenital Heart Disorders.
Floriani MA; Santos AS; Diniz BL; Glaeser AB; Gazzola Zen PR; Machado Rosa RF
Mol Syndromol; 2023 Feb; 14(1):1-10. PubMed ID: 36777701
[TBL] [Abstract][Full Text] [Related]
18. The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report.
Candelo E; Estrada-Mesa MA; Jaramillo A; Martinez-Cajas CH; Osorio JC; Pachajoa H
Appl Clin Genet; 2021; 14():267-277. PubMed ID: 34103968
[TBL] [Abstract][Full Text] [Related]
19. Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome).
Kuo CY; Signer R; Saitta SC
Curr Allergy Asthma Rep; 2018 Oct; 18(12):75. PubMed ID: 30377837
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
