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Results: 1 to 20 of 25

Select item 222964501.

A 15q24 microdeletion in transient myeloproliferative disease (TMD) and acute megakaryoblastic leukaemia (AMKL) implicates PML and SUMO3 in the leukaemogenesis of TMD/AMKL.

Haemmerling S, Behnisch W, Doerks T, Korbel JO, Bork P, Moog U, Hentze S, Grasshoff U, Bonin M, Rieß O, Janssen JW, Jauch A, Bartram CR, Reinhardt D, Koch KA, Bandapalli OR, Kulozik AE.

Br J Haematol. 2012 Apr;157(2):180-7. doi: 10.1111/j.1365-2141.2012.09028.x. Epub 2012 Feb 1.

PMID:: 22296450; [PubMed - indexed for MEDLINE]

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Select item 222168332.

Chromosome 15q24 microdeletion syndrome.

Magoulas PL, El-Hattab AW.

Orphanet J Rare Dis. 2012 Jan 4;7:2. doi: 10.1186/1750-1172-7-2. Review.

PMID:: 22216833; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 221982013.

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.

Brun A, Cailley D, Toutain J, Bouron J, Arveiler B, Lacombe D, Goizet C, Rooryck C.

Eur J Med Genet. 2012 Feb;55(2):135-9. doi: 10.1016/j.ejmg.2011.11.006. Epub 2011 Dec 3.

PMID:: 22198201; [PubMed - indexed for MEDLINE]

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Select item 221806414.

Further clinical and molecular delineation of the 15q24 microdeletion syndrome.

Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal MC, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V, Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE.

J Med Genet. 2012 Feb;49(2):110-8. doi: 10.1136/jmedgenet-2011-100499. Epub 2011 Dec 17.

PMID:: 22180641; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 221400755.

Myelodysplastic syndrome in a child with 15q24 deletion syndrome.

Narumi Y, Shiohara M, Wakui K, Hama A, Kojima S, Yoshikawa K, Amano Y, Kosho T, Fukushima Y.

Am J Med Genet A. 2012 Feb;158A(2):412-6. doi: 10.1002/ajmg.a.34395. Epub 2011 Dec 2.

PMID:: 22140075; [PubMed - indexed for MEDLINE]

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Select item 220168096.

Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.

Salyakina D, Cukier HN, Lee JM, Sacharow S, Nations LD, Ma D, Jaworski JM, Konidari I, Whitehead PL, Wright HH, Abramson RK, Williams SM, Menon R, Haines JL, Gilbert JR, Cuccaro ML, Pericak-Vance MA.

PLoS One. 2011;6(10):e26049. doi: 10.1371/journal.pone.0026049. Epub 2011 Oct 7.

PMID:: 22016809; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 217871167.

An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literature.

L Ng IS, Chin WH, P Lim EC, Tan EC.

Twin Res Hum Genet. 2011 Aug;14(4):333-9. doi: 10.1375/twin.14.4.333. Review.

PMID:: 21787116; [PubMed - indexed for MEDLINE]

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Select item 214804998.

Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21.

Cukier HN, Salyakina D, Blankstein SF, Robinson JL, Sacharow S, Ma D, Wright HH, Abramson RK, Menon R, Williams SM, Haines JL, Cuccaro ML, Gilbert JR, Pericak-Vance MA.

Am J Med Genet B Neuropsychiatr Genet. 2011 Jun;156B(4):493-501. doi: 10.1002/ajmg.b.31188. Epub 2011 Apr 7.

PMID:: 21480499; [PubMed - indexed for MEDLINE]

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Select item 211084049.

Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regions.

Roetzer KM, Schwarzbraun T, Obenauf AC, Hauser E, Speicher MR.

Am J Med Genet A. 2010 Dec;152A(12):3173-8. doi: 10.1002/ajmg.a.33750.

PMID:: 21108404; [PubMed - indexed for MEDLINE]

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Select item 2086007010.

Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants.

El-Hattab AW, Zhang F, Maxim R, Christensen KM, Ward JC, Hines-Dowell S, Scaglia F, Lupski JR, Cheung SW.

Genet Med. 2010 Sep;12(9):573-86. doi: 10.1097/GIM.0b013e3181eb9b4a.

PMID:: 20860070; [PubMed - indexed for MEDLINE]

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Select item 2068123011.

Deletion 2q37.3->qter and duplication 15q24.3->qter characterized by array CGH in a girl with epilepsy and dysmorphic features.

Chen CP, Lin SP, Chern SR, Tsai FJ, Wu PC, Lee CC, Chen LF, Lee MS, Wang W.

Genet Couns. 2010;21(2):263-7. No abstract available.

PMID:: 20681230; [PubMed - indexed for MEDLINE]

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Select item 1992164712.

Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH.

Andrieux J, Dubourg C, Rio M, Attie-Bitach T, Delaby E, Mathieu M, Journel H, Copin H, Blondeel E, Doco-Fenzy M, Landais E, Delobel B, Odent S, Manouvrier-Hanu S, Holder-Espinasse M.

Am J Med Genet A. 2009 Dec;149A(12):2813-9. doi: 10.1002/ajmg.a.33097.

PMID:: 19921647; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 1955743813.

Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.

El-Hattab AW, Smolarek TA, Walker ME, Schorry EK, Immken LL, Patel G, Abbott MA, Lanpher BC, Ou Z, Kang SH, Patel A, Scaglia F, Lupski JR, Cheung SW, Stankiewicz P.

Hum Genet. 2009 Oct;126(4):589-602. doi: 10.1007/s00439-009-0706-x. Epub 2009 Jun 26.

PMID:: 19557438; [PubMed - indexed for MEDLINE]

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Select item 1953377814.

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array-CGH.

Masurel-Paulet A, Callier P, Thauvin-Robinet C, Chouchane M, Mejean N, Marle N, Mosca AL, Ben Salem D, Giroud M, Guibaud L, Huet F, Mugneret F, Faivre L.

Am J Med Genet A. 2009 Jul;149A(7):1504-10. doi: 10.1002/ajmg.a.32904.

PMID:: 19533778; [PubMed - indexed for MEDLINE]

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Select item 1923332115.

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome.

Van Esch H, Backx L, Pijkels E, Fryns JP.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):153-6. doi: 10.1016/j.ejmg.2009.02.003. Epub 2009 Feb 21.

PMID:: 19233321; [PubMed - indexed for MEDLINE]

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Select item 1875530216.

A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients.

Kiholm Lund AB, Hove HD, Kirchhoff M.

Eur J Med Genet. 2008 Nov-Dec;51(6):520-6. doi: 10.1016/j.ejmg.2008.07.008. Epub 2008 Aug 7.

PMID:: 18755302; [PubMed - indexed for MEDLINE]

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Select item 1851207817.

Novel microdeletion syndromes detected by chromosome microarrays.

Slavotinek AM.

Hum Genet. 2008 Aug;124(1):1-17. doi: 10.1007/s00439-008-0513-9. Epub 2008 May 30. Review.

PMID:: 18512078; [PubMed - indexed for MEDLINE]

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Select item 1826276318.

Monosomy and trisomy of 15q24-qter with cleft lip and palate.

Abe A, Hatano Y, Kurita K, Nakano M, Shimizu M, Yokoi T, Sugiyama N.

Int J Oral Maxillofac Surg. 2008 May;37(5):487-90. doi: 10.1016/j.ijom.2007.10.003. Epub 2008 Feb 11.

PMID:: 18262763; [PubMed - indexed for MEDLINE]

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Select item 1825222719.

Structural variation of chromosomes in autism spectrum disorder.

Marshall CR, Noor A, Vincent JB, Lionel AC, Feuk L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S, Friedman J, Ketelaars CE, Vos YJ, Ficicioglu C, Kirkpatrick S, Nicolson R, Sloman L, Summers A, Gibbons CA, Teebi A, Chitayat D, Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B, Szatmari P, Scherer SW.

Am J Hum Genet. 2008 Feb;82(2):477-88. doi: 10.1016/j.ajhg.2007.12.009. Epub 2008 Jan 17.

PMID:: 18252227; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 1822625920.

Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.

Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork CD, Shaffer LG, Beaudet AL.

BMC Genomics. 2008 Jan 28;9:50. doi: 10.1186/1471-2164-9-50.

PMID:: 18226259; [PubMed - indexed for MEDLINE]

Free PMC Article

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7 free full-text articles in PubMed Central

Review Chromosome 15q24 microdeletion syndrome. [Orphanet J Rare Dis. 2012]
Review Chromosome 15q24 microdeletion syndrome.
Magoulas PL, El-Hattab AW. Orphanet J Rare Dis. 2012 Jan 4; 7:2. Epub 2012 Jan 4.
Further clinical and molecular delineation of the 15q24 microdeletion syndrome. [J Med Genet. 2012]
Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, et al. J Med Genet. 2012 Feb; 49(2):110-8. Epub 2011 Dec 17.
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk. [PLoS One. 2011]
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
Salyakina D, Cukier HN, Lee JM, Sacharow S, Nations LD, Ma D, Jaworski JM, Konidari I, Whitehead PL, Wright HH, et al. PLoS One. 2011; 6(10):e26049. Epub 2011 Oct 7.

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15q24[TIAB] AND ((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]) OR (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])) AND english[la] AND "humans"[MeSH Terms] AND "2003/07/14"[dp] : "2013/05/21"[dp]

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