271 related articles for article (PubMed ID: 18471269)
1. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.
Ballif BC; Theisen A; Coppinger J; Gowans GC; Hersh JH; Madan-Khetarpal S; Schmidt KR; Tervo R; Escobar LF; Friedrich CA; McDonald M; Campbell L; Ming JE; Zackai EH; Bejjani BA; Shaffer LG
Mol Cytogenet; 2008 Apr; 1():8. PubMed ID: 18471269
[TBL] [Abstract][Full Text] [Related]
2. [Identification of a novel deletion region in 3q29 microdeletion syndrome by oligonucleotide array comparative genomic hybridization].
Seo EJ; Jun KR; Yoo HW; Yoo HK; Lee JO
Korean J Lab Med; 2010 Feb; 30(1):70-5. PubMed ID: 20197726
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.
Tassano E; Uccella S; Giacomini T; Severino M; Siri L; Gherzi M; Celle ME; Porta S; Gimelli G; Ronchetto P
Eur J Med Genet; 2018 Aug; 61(8):428-433. PubMed ID: 29501613
[TBL] [Abstract][Full Text] [Related]
5. Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
Coppinger J; McDonald-McGinn D; Zackai E; Shane K; Atkin JF; Asamoah A; Leland R; Weaver DD; Lansky-Shafer S; Schmidt K; Feldman H; Cohen W; Phalin J; Powell B; Ballif BC; Theisen A; Geiger E; Haldeman-Englert C; Shaikh TH; Saitta S; Bejjani BA; Shaffer LG
Hum Mol Genet; 2009 Apr; 18(8):1377-83. PubMed ID: 19193630
[TBL] [Abstract][Full Text] [Related]
6. 3q29 interstitial microduplication: a new syndrome in a three-generation family.
Lisi EC; Hamosh A; Doheny KF; Squibb E; Jackson B; Galczynski R; Thomas GH; Batista DA
Am J Med Genet A; 2008 Mar; 146A(5):601-9. PubMed ID: 18241066
[TBL] [Abstract][Full Text] [Related]
7. 3q29 microduplication syndrome: New evidence for the refinement of the critical region.
Bauleo A; Pace V; Montesanto A; De Stefano L; Brando R; Puntorieri D; Cento L; Genuardi M; Falcone E
Mol Genet Genomic Med; 2023 Apr; 11(4):e2130. PubMed ID: 36691815
[TBL] [Abstract][Full Text] [Related]
8. [Molecular characterisation and phenotypic description of two patients with reciprocal chromosomal aberrations in the region of the 3q29 microdeletion/microduplication syndromes].
Quintela I; Barros-Angueira F; Perez-Gay L; Dacruz D; Castro-Gago M; Carracedo A; Eiris-Punal J
Rev Neurol; 2015 Sep; 61(6):255-60. PubMed ID: 26350776
[TBL] [Abstract][Full Text] [Related]
9. The emerging microduplication 3q13.31: Expanding the genotype-phenotype correlations of the reciprocal microdeletion 3q13.31 syndrome.
Hervé B; Fauvert D; Dard R; Roume J; Cognard S; Goidin D; Lozach F; Molina-Gomes D; Vialard F
Eur J Med Genet; 2016 Sep; 59(9):463-9. PubMed ID: 27568866
[TBL] [Abstract][Full Text] [Related]
10. A Case With 4 de Novo Copy Number Variations With Clinical Features That Overlap 1q43q44 Microdeletion and 3q29 Microduplication Syndromes.
Kessi M; Peng J; Yang L; Duan H; Tang Y; Yin F
Child Neurol Open; 2018; 5():2329048X18798200. PubMed ID: 30263904
[TBL] [Abstract][Full Text] [Related]
11. Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting.
Goobie S; Knijnenburg J; Fitzpatrick D; Sharkey FH; Lionel AC; Marshall CR; Azam T; Shago M; Chong K; Mendoza-Londono R; den Hollander NS; Ruivenkamp C; Maher E; Tanke HJ; Szuhai K; Wintle RF; Scherer SW
Cytogenet Genome Res; 2008; 123(1-4):65-78. PubMed ID: 19287140
[TBL] [Abstract][Full Text] [Related]
12. [3q29 microduplication syndrome].
Aleixandre Blanquer F; Manchón Trives I; Forniés Arnau MJ; Alcaraz Mas LA; Picó Alfonso N; Galán Sánchez F
An Pediatr (Barc); 2011 Dec; 75(6):409-12. PubMed ID: 21982553
[TBL] [Abstract][Full Text] [Related]
13. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
Hannes FD; Sharp AJ; Mefford HC; de Ravel T; Ruivenkamp CA; Breuning MH; Fryns JP; Devriendt K; Van Buggenhout G; Vogels A; Stewart H; Hennekam RC; Cooper GM; Regan R; Knight SJ; Eichler EE; Vermeesch JR
J Med Genet; 2009 Apr; 46(4):223-32. PubMed ID: 18550696
[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. Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review.
Quintero-Rivera F; Sharifi-Hannauer P; Martinez-Agosto JA
Am J Med Genet A; 2010 Oct; 152A(10):2459-67. PubMed ID: 20830797
[TBL] [Abstract][Full Text] [Related]
16. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
Potocki L; Chen KS; Park SS; Osterholm DE; Withers MA; Kimonis V; Summers AM; Meschino WS; Anyane-Yeboa K; Kashork CD; Shaffer LG; Lupski JR
Nat Genet; 2000 Jan; 24(1):84-7. PubMed ID: 10615134
[TBL] [Abstract][Full Text] [Related]
17. Expanding the clinical phenotype at the 3q13.31 locus with a new case of microdeletion and first characterization of the reciprocal duplication.
Vuillaume ML; Delrue MA; Naudion S; Toutain J; Fergelot P; Arveiler B; Lacombe D; Rooryck C
Mol Genet Metab; 2013; 110(1-2):90-7. PubMed ID: 23920044
[TBL] [Abstract][Full Text] [Related]
18. A rare case of a boy with de novo microduplication at 5q35.2q35.3 from central Brazil.
Reis FG; Pinto IP; Minasi LB; Melo AV; Cunha DM; Ribeiro CL; da Silva CC; Silva DM; da Cruz AD
Genet Mol Res; 2017 Jan; 16(1):. PubMed ID: 28128410
[TBL] [Abstract][Full Text] [Related]
19. Familial inheritance of the 3q29 microdeletion syndrome: case report and review.
Khan WA; Cohen N; Scott SA; Pereira EM
BMC Med Genomics; 2019 Mar; 12(1):51. PubMed ID: 30885185
[TBL] [Abstract][Full Text] [Related]
20. 4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: New insights into mechanisms and critical regions.
Bi W; Cheung SW; Breman AM; Bacino CA
Am J Med Genet A; 2016 Oct; 170(10):2540-50. PubMed ID: 27287194
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]