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Results: 1 to 20 of 46

Select item 229396341.

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.

Soemedi R, Wilson IJ, Bentham J, Darlay R, Töpf A, Zelenika D, Cosgrove C, Setchfield K, Thornborough C, Granados-Riveron J, Blue GM, Breckpot J, Hellens S, Zwolinkski S, Glen E, Mamasoula C, Rahman TJ, Hall D, Rauch A, Devriendt K, Gewillig M, O' Sullivan J, Winlaw DS, Bu'Lock F, Brook JD, Bhattacharya S, Lathrop M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD.

Am J Hum Genet. 2012 Sep 7;91(3):489-501. doi: 10.1016/j.ajhg.2012.08.003. Epub 2012 Aug 30.

PMID:: 22939634; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 229125872.

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.

Silversides CK, Lionel AC, Costain G, Merico D, Migita O, Liu B, Yuen T, Rickaby J, Thiruvahindrapuram B, Marshall CR, Scherer SW, Bassett AS.

PLoS Genet. 2012;8(8):e1002843. doi: 10.1371/journal.pgen.1002843. Epub 2012 Aug 9.

PMID:: 22912587; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 229118873.

Rare copy number variants in neuropsychiatric disorders: Specific phenotype or not?

Van Den Bossche MJ, Johnstone M, Strazisar M, Pickard BS, Goossens D, Lenaerts AS, De Zutter S, Nordin A, Norrback KF, Mendlewicz J, Souery D, De Rijk P, Sabbe BG, Adolfsson R, Blackwood D, Del-Favero J.

Am J Med Genet B Neuropsychiatr Genet. 2012 Oct;159B(7):812-22. doi: 10.1002/ajmg.b.32088. Epub 2012 Aug 22.

PMID:: 22911887; [PubMed - indexed for MEDLINE]

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Select item 228856894.

Genome-wide association study of multiplex schizophrenia pedigrees.

Levinson DF, Shi J, Wang K, Oh S, Riley B, Pulver AE, Wildenauer DB, Laurent C, Mowry BJ, Gejman PV, Owen MJ, Kendler KS, Nestadt G, Schwab SG, Mallet J, Nertney D, Sanders AR, Williams NM, Wormley B, Lasseter VK, Albus M, Godard-Bauché S, Alexander M, Duan J, O'Donovan MC, Walsh D, O'Neill A, Papadimitriou GN, Dikeos D, Maier W, Lerer B, Campion D, Cohen D, Jay M, Fanous A, Eichhammer P, Silverman JM, Norton N, Zhang N, Hakonarson H, Gao C, Citri A, Hansen M, Ripke S; Schizophrenia Psychiatric GWAS Consortium, Dudbridge F, Holmans PA.

Am J Psychiatry. 2012 Sep;169(9):963-73.

PMID:: 22885689; [PubMed - indexed for MEDLINE]

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Select item 228200785.

Prenatal diagnosis of an atypical 1q21.1 microdeletion and duplication associated with foetal urogenital abnormalities.

Liao C, Fu F, Yi CX, Li R, Yang X, Xu Q, Li DZ.

Gene. 2012 Oct 1;507(1):92-4. doi: 10.1016/j.gene.2012.07.008. Epub 2012 Jul 20. No abstract available.

PMID:: 22820078; [PubMed - indexed for MEDLINE]

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Select item 225921996.

Genomic copy number variations: A breakthrough in our knowledge on schizophrenia etiology?

Hosak L, Silhan P, Hosakova J.

Neuro Endocrinol Lett. 2012;33(2):183-90. Review.

PMID:: 22592199; [PubMed - indexed for MEDLINE]

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Select item 225817857.

14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly.

Piccione M, Serra G, Consiglio V, Di Fiore A, Cavani S, Grasso M, Malacarne M, Pierluigi M, Viaggi C, Corsello G.

Am J Med Genet A. 2012 Jun;158A(6):1427-33. doi: 10.1002/ajmg.a.35334. Epub 2012 May 11.

PMID:: 22581785; [PubMed - indexed for MEDLINE]

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Select item 223667858.

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA, Jolley JD, Cvejic A, Kostadima M, Bertone P, Breuning MH, Debili N, Deloukas P, Favier R, Fiedler J, Hobbs CM, Huang N, Hurles ME, Kiddle G, Krapels I, Nurden P, Ruivenkamp CA, Sambrook JG, Smith K, Stemple DL, Strauss G, Thys C, van Geet C, Newbury-Ecob R, Ouwehand WH, Ghevaert C.

Nat Genet. 2012 Feb 26;44(4):435-9, S1-2. doi: 10.1038/ng.1083.

PMID:: 22366785; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 223179779.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.

Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS; 1q21.1 Study Group.

Eur J Hum Genet. 2012 Jul;20(7):754-61. doi: 10.1038/ejhg.2012.6. Epub 2012 Feb 8.

PMID:: 22317977; [PubMed - indexed for MEDLINE]

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Select item 2220155910.

Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes.

Guastadisegni MC, Roberto R, L'Abbate A, Palumbo O, Carella M, Giordani L, Cecinati V, Giordano P, Storlazzi CT.

Eur J Med Genet. 2012 Feb;55(2):120-3. doi: 10.1016/j.ejmg.2011.11.007. Epub 2011 Dec 8.

PMID:: 22201559; [PubMed - indexed for MEDLINE]

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Select item 2219902411.

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.

Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu'lock F, Thornborough C, Devriendt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue GM, Winlaw DS, Hurles M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD.

Hum Mol Genet. 2012 Apr 1;21(7):1513-20. doi: 10.1093/hmg/ddr589. Epub 2011 Dec 22.

PMID:: 22199024; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2213010912.

Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia.

Grozeva D, Conrad DF, Barnes CP, Hurles M, Owen MJ, O'Donovan MC, Craddock N, Kirov G; WTCCC.

Schizophr Res. 2012 Mar;135(1-3):1-7. doi: 10.1016/j.schres.2011.11.004. Epub 2011 Nov 29.

PMID:: 22130109; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2211868513.

High frequency of known copy number abnormalities and maternal duplication 15q11-q13 in patients with combined schizophrenia and epilepsy.

Stewart LR, Hall AL, Kang SH, Shaw CA, Beaudet AL.

BMC Med Genet. 2011 Nov 25;12:154. doi: 10.1186/1471-2350-12-154.

PMID:: 22118685; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2210227414.

Thrombocytopenia-absent radius syndrome.

Toriello HV.

Semin Thromb Hemost. 2011 Sep;37(6):707-12. doi: 10.1055/s-0031-1291381. Epub 2011 Nov 18. Review.

PMID:: 22102274; [PubMed - indexed for MEDLINE]

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Select item 2208372815.

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

Kirov G, Pocklington AJ, Holmans P, Ivanov D, Ikeda M, Ruderfer D, Moran J, Chambert K, Toncheva D, Georgieva L, Grozeva D, Fjodorova M, Wollerton R, Rees E, Nikolov I, van de Lagemaat LN, Bayés A, Fernandez E, Olason PI, Böttcher Y, Komiyama NH, Collins MO, Choudhary J, Stefansson K, Stefansson H, Grant SG, Purcell S, Sklar P, O'Donovan MC, Owen MJ.

Mol Psychiatry. 2012 Feb;17(2):142-53. doi: 10.1038/mp.2011.154. Epub 2011 Nov 15.

PMID:: 22083728; [PubMed - indexed for MEDLINE]

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Select item 2198242316.

Copy number variants for schizophrenia and related psychotic disorders in Oceanic Palau: risk and transmission in extended pedigrees.

Melhem N, Middleton F, McFadden K, Klei L, Faraone SV, Vinogradov S, Tiobech J, Yano V, Kuartei S, Roeder K, Byerley W, Devlin B, Myles-Worsley M.

Biol Psychiatry. 2011 Dec 15;70(12):1115-21. doi: 10.1016/j.biopsych.2011.08.009. Epub 2011 Oct 7.

PMID:: 21982423; [PubMed - indexed for MEDLINE]

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Select item 2182443117.

Understanding the impact of 1q21.1 copy number variant.

Harvard C, Strong E, Mercier E, Colnaghi R, Alcantara D, Chow E, Martell S, Tyson C, Hrynchak M, McGillivray B, Hamilton S, Marles S, Mhanni A, Dawson AJ, Pavlidis P, Qiao Y, Holden JJ, Lewis SM, O'Driscoll M, Rajcan-Separovic E.

Orphanet J Rare Dis. 2011 Aug 8;6:54. doi: 10.1186/1750-1172-6-54.

PMID:: 21824431; [PubMed - indexed for MEDLINE]

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Select item 2181210218.

Genomic architecture of aggression: rare copy number variants in intermittent explosive disorder.

Vu TH, Coccaro EF, Eichler EE, Girirajan S.

Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(7):808-16. doi: 10.1002/ajmg.b.31225. Epub 2011 Aug 2.

PMID:: 21812102; [PubMed - indexed for MEDLINE]

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Select item 2163597619.

Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling.

Houeijeh A, Andrieux J, Saugier-Veber P, David A, Goldenberg A, Bonneau D, Fouassier M, Journel H, Martinovic J, Escande F, Devisme L, Bisiaux S, Chaffiotte C, Baux M, Kerckaert JP, Holder-Espinasse M, Manouvrier-Hanu S.

Eur J Med Genet. 2011 Sep-Oct;54(5):e471-7. doi: 10.1016/j.ejmg.2011.05.001. Epub 2011 May 13.

PMID:: 21635976; [PubMed - indexed for MEDLINE]

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Select item 2142871220.

Langerhans cell histiocytosis in a pediatric patient with thrombocytopenia-absent radius syndrome and 1q21.1 deletion: case report and proposal of a rapid molecular diagnosis of 1q21.1 deletion.

Giordano P, Cecinati V, Grassi M, Giordani L, De Mattia D, Santoro N.

Immunopharmacol Immunotoxicol. 2011 Dec;33(4):754-8. doi: 10.3109/08923973.2011.557077. Epub 2011 Mar 23.

PMID:: 21428712; [PubMed - indexed for MEDLINE]

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20 free full-text articles in PubMed Central

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. [Am J Hum Genet. 2012]
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
Soemedi R, Wilson IJ, Bentham J, Darlay R, Töpf A, Zelenika D, Cosgrove C, Setchfield K, Thornborough C, Granados-Riveron J, et al. Am J Hum Genet. 2012 Sep 7; 91(3):489-501. Epub 2012 Aug 30.
Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. [PLoS Genet. 2012]
Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.
Silversides CK, Lionel AC, Costain G, Merico D, Migita O, Liu B, Yuen T, Rickaby J, Thiruvahindrapuram B, Marshall CR, et al. PLoS Genet. 2012; 8(8):e1002843. Epub 2012 Aug 9.
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. [Nat Genet. 2012]
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA, Jolley JD, Cvejic A, Kostadima M, Bertone P, et al. Nat Genet. 2012 Feb 26; 44(4):435-9, S1-2. Epub 2012 Feb 26.

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1q21.1[TIAB] AND ((microdeletion[TIAB] OR microdeletion/digeorge[TIAB] OR microdeletion/duplication[TIAB] OR microdeletion/duplications[TIAB] OR microdeletion/insertion[TIAB] OR microdeletion/microduplication[TIAB] OR microdeletion/microduplications[TIAB] OR microdeletion/microinsertion[TIAB] OR microdeletion/supernumerary[TIAB] OR microdeletion/syndrome[TIAB] OR microdeletional[TIAB] OR microdeletions[TIAB] OR microdeletions/chromosomal[TIAB] OR microdeletions/duplications[TIAB] OR microdeletions/insertions[TIAB] OR microdeletions/microduplications[TIAB] OR microdeletions/microindels[TIAB] OR microdeletions/microinsertions[TIAB]) OR (deletion[TIAB] OR deletion/1[TIAB] OR deletion/12p13[TIAB] OR deletion/13q[TIAB] OR deletion/16[TIAB] OR deletion/16q[TIAB] OR deletion/17p[TIAB] OR deletion/3p[TIAB] OR deletion/7[TIAB] OR deletion/8[TIAB] OR deletion/9[TIAB] OR deletion/ablation[TIAB] OR deletion/accretion[TIAB] OR deletion/ace[TIAB] OR deletion/activation[TIAB] OR deletion/addition[TIAB] OR deletion/amplification[TIAB] OR deletion/anergy[TIAB] OR deletion/antagonism[TIAB] OR deletion/apoptosis[TIAB] OR deletion/att[TIAB] OR deletion/attg2[TIAB] OR deletion/aupd[TIAB] OR deletion/b[TIAB] OR deletion/blocking[TIAB] OR deletion/cat[TIAB] OR deletion/chimeric[TIAB] OR deletion/chloramphenicol[TIAB] OR deletion/cluster[TIAB] OR deletion/codon[TIAB] OR deletion/complementation[TIAB] OR deletion/compound[TIAB] OR deletion/conversion[TIAB] OR deletion/cx26[TIAB] OR deletion/deficiency[TIAB] OR deletion/deletion[TIAB] OR deletion/derivation[TIAB] OR deletion/digeorge[TIAB] OR deletion/digest/page[TIAB] OR deletion/disruption[TIAB] OR deletion/disruptions[TIAB] OR deletion/downregulation[TIAB] OR deletion/downregulation/overexpression[TIAB] OR deletion/duplication[TIAB] OR deletion/duplications[TIAB] OR deletion/expression[TIAB] OR deletion/fra11a[TIAB] OR deletion/fractionation[TIAB] OR deletion/frameshift[TIAB] OR deletion/fusion[TIAB] OR deletion/g[TIAB] OR deletion/gain[TIAB] OR deletion/gene[TIAB] OR deletion/gus[TIAB] OR deletion/hbh[TIAB] OR deletion/homozygous[TIAB] OR deletion/hybrid[TIAB] OR deletion/hypermethylation[TIAB] OR deletion/hypodiploidy[TIAB] OR deletion/imbalance[TIAB] OR deletion/inactivation[TIAB] OR deletion/inhibition[TIAB] OR deletion/insert[TIAB] OR deletion/insertion[TIAB] OR deletion/insertion/duplication[TIAB] OR deletion/insertion/recombination[TIAB] OR deletion/insertion/substitution[TIAB] OR deletion/insertions[TIAB] OR deletion/interruption[TIAB] OR deletion/inversion[TIAB] OR deletion/inversions[TIAB] OR deletion/knockout[TIAB] OR deletion/knockout/inhibition[TIAB] OR deletion/lacz[TIAB] OR deletion/large[TIAB] OR deletion/loh[TIAB] OR deletion/loss[TIAB] OR deletion/luciferase[TIAB] OR deletion/macroconversion[TIAB] OR deletion/marker[TIAB] OR deletion/methylation[TIAB] OR deletion/methylation/expression[TIAB] OR deletion/methylation/mutation/expression[TIAB] OR deletion/modification[TIAB] OR deletion/monosomy[TIAB] OR deletion/more[TIAB] OR deletion/mutagenesis[TIAB] OR deletion/mutant[TIAB] OR deletion/mutation[TIAB] OR deletion/mutational[TIAB] OR deletion/mutations[TIAB] OR deletion/nondeletion[TIAB] OR deletion/nonsense[TIAB] OR deletion/null[TIAB] OR deletion/one[TIAB] OR deletion/overexpression[TIAB] OR deletion/overexpression/insertion[TIAB] OR deletion/phosphorylation[TIAB] OR deletion/physical[TIAB] OR deletion/point[TIAB] OR deletion/polymorphism[TIAB] OR deletion/presence[TIAB] OR deletion/promoter[TIAB] OR deletion/protein[TIAB] OR deletion/rearrangement[TIAB] OR deletion/rearrangements[TIAB] OR deletion/receptor[TIAB] OR deletion/recombination[TIAB] OR deletion/reduction[TIAB] OR deletion/reintroduction[TIAB] OR deletion/repair[TIAB] OR deletion/replacement[TIAB] OR deletion/reporter[TIAB] OR deletion/rescue[TIAB] OR deletion/retention[TIAB] OR deletion/reversion[TIAB] OR deletion/ring[TIAB] OR deletion/s[TIAB] OR deletion/selection[TIAB] OR deletion/silencing[TIAB] OR deletion/site[TIAB] OR deletion/skipping[TIAB] OR deletion/splicing[TIAB] OR deletion/substitution[TIAB] OR deletion/substitution/addition[TIAB] OR deletion/substitutions[TIAB] OR deletion/t790m[TIAB] OR deletion/tetranucleotide[TIAB] OR deletion/tp53[TIAB] OR deletion/transcriptionally[TIAB] OR deletion/translocation[TIAB] OR deletion/truncation[TIAB] OR deletion/unaltered[TIAB] OR deletion/variant[TIAB] OR deletion/vcf/digeorge[TIAB] OR deletion/vcfs[TIAB] OR deletion/wild[TIAB] OR deletion/zymosan/camp[TIAB] OR deletion'[TIAB] OR deletion's[TIAB] OR deletion322[TIAB] OR deletionaag[TIAB] OR deletional[TIAB] OR deletional/duplicational[TIAB] OR deletional/insertional[TIAB] OR deletional/mutational[TIAB] OR deletionally[TIAB] OR deletione[TIAB] OR deletioninversion[TIAB] OR deletionless[TIAB] OR deletionmutation[TIAB] OR deletionof[TIAB] OR deletionogenic[TIAB] OR deletionrcolon[TIAB] OR deletions[TIAB] OR deletions/100,000[TIAB] OR deletions/8q[TIAB] OR deletions/additions[TIAB] OR deletions/cell/generation[TIAB] OR deletions/centric[TIAB] OR deletions/conversions[TIAB] OR deletions/depletions[TIAB] OR deletions/dicentrics[TIAB] OR deletions/duplication[TIAB] OR deletions/duplications[TIAB] OR deletions/extra[TIAB] OR deletions/frameshift[TIAB] OR deletions/gains[TIAB] OR deletions/imbalances[TIAB] OR deletions/inactivating[TIAB] OR deletions/indels[TIAB] OR deletions/insertion[TIAB] OR deletions/insertions[TIAB] OR deletions/insertions/duplications[TIAB] OR deletions/insertions/rearrangements[TIAB] OR deletions/inversions[TIAB] OR deletions/large[TIAB] OR deletions/loss[TIAB] OR deletions/monosomy[TIAB] OR deletions/monosony13[TIAB] OR deletions/multiplications[TIAB] OR deletions/multiplications/copy[TIAB] OR deletions/mutations[TIAB] OR deletions/person[TIAB] OR deletions/polymorphisms[TIAB] OR deletions/rare[TIAB] OR deletions/rearran[TIAB] OR deletions/rearrangement[TIAB] OR deletions/rearrangements[TIAB] OR deletions/rearrangements/insertions[TIAB] OR deletions/replacements[TIAB] OR deletions/revisions[TIAB] OR deletions/splices[TIAB] OR deletions/stop[TIAB] OR deletions/substitutions[TIAB] OR deletions/translocations[TIAB] OR deletions/transpositions[TIAB] OR deletions/truncations[TIAB] OR deletions'[TIAB] OR deletionsinsertions[TIAB])) AND english[la] AND "humans"[MeSH Terms]

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