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20007505,24299031,21863054,21780245,24916376,16603426,18473334,25395389,19755383,10857747,11436121,27701793,11414765,23502140,16219628,16086014,15314640,16963484,22150955,21166119,27612309,14624463,18159214,15743916,16615080,25943194,12461525,16928784,23719190,20060582,19407494,8827075,14645199,21278389,19066168,8827076,31235774,17158821,23182821,18550048,10712200,19293570,19209620,23572028,21129773,18245780,24996904,23803580,20362968,12629040,27650505,20738330,10839546,10839547,11751681,29223973,18341093,16236811,21571108,15352122,10729220,15492815,16001432,25044976,22248018,9152830,26933465,21282187,11106355,28478949,20418667,8634713,20838620,29484033,32427849,8968759,23821645,17504900,27152123,24990148,12960026,21458801,20803657,9285792,7614476,26061650,34132339,24322424,18404973,24154661,14681296,32447323,23240093,21920939,15060168,16575175,7987305,26447000,23118352,17413842,24065356,11813134,27621468,8612230,15143173,15203204,24658748,23495910,32012256,23153226,19502451,22674207,21058226,19843502,17306581,32447322,10220444,18230663,19675668,15562825,12668598,16015666,19876907,21466477,20404028,25066218,18365005,24324735,24704790,23917791,11181570,25262539,14997421,21895576,16575195,19279321,24911853,30770769,33923683,16825435,30221575,20028213,11431321,9311733,20082469,26691664,10464770,33810554,9087693,33541417,22079941,9311734,26839037,19956846,18212817,10601037,21124827,23116464,12588801,22089545,9260520,33567274,20385510,8923002,18607558,26880735,10843195,22772341,10424811,29244185,21248736,30218098,27313795,26784546,23243085,22395465,21555179,24945423,11726548,18854861,36256576,32424032,10393948,23892181,24725430,15870260,30864369,26077438,21805044,30898153,16940449,24934635,9020845,24038823,11909940,16575186,15057946,32839827,11021841,26386650,19083838,20301499,7957404,34107024,23335487,10899010,7837249,31997239,20062522,12075007,11861473,22415163,23086270,30635621,12029086,22585446,21612428,22205991,20685669,15233993,10958646,24668696,8518793,24335096,19338988,12949703,33294970,21396582,7581444,7913866,17329968,19300480,30829192,25861997,11441340,20483645,27480579,26505556,22890135,8827079,11923202,28699632,18587395,21936680,22989232,18794369,22577095,31466347,15143179,8320696,10837224,33177595,12510981,30165906,10197590,23108799,15887271,20015958,34982814,27372391,29470501,16869770,15523153,9239720,11076856,16117630,16402210,9389646,16331412,24325814,19694203,22170793,29157910,8055321,27587987,12589428,10873799,11340379,9425596,25639378,26103904,17450433,28428215,22702363,12019213,30158284,16061564,28796236,23401077,11854173,10777363,18836444,26732610,25825726,32393365,36428656,32576657,8104862,23751585,33679886,16532391,27165005,15543560,17994567,19513094,14585991,16612111,12874112,35581658,23115243,23511928,36292759,16321503,18728168,35885613,25657826,33300436,20616360,23809048,21863059,22419125,16531418,18627058,22959455,16770802,14963718,20507345,11076855,30595068,29188610,20739274,28675902,15342558,10607831,10762538,34402430,35741015,18314872,26508573,9507400,12165460,21910219,12439823,21349887,28443481,27386972,17044860,18464243,10995782,31544945,20861572,21536749,18245390,20104244,23750643,30801013,22771538,7581651,29270226,11444688,20830799,23745176,30396480,32199948,19017756,33658067,3529947,19700863,29922638,32096599,22634751,20699328,7798299,11971967,24313804,29574422,24818964,18789616,12676894,33101381,14595760,10779553,36441651,17177177,35418826,27200075,12459312,25057881,16971482,33076988,20635366,26590364,9428426,15747580,12161597,35522427,26154720,18786438,15158633,11323172,19632365,33313480,29250858,23913548,14642004,34627330,19814617,18202157,28489339,9575493,30400067,33920525,22844132,30227764,31803239,28753543,26678531,17079879,12504849,8845132,23888961,28082544,22987336,31497289,10986038,9260513,17400796,16330588,20458166,19000666,24904861,36268036,24034272,32270973,7593321,10364674,35368018,27323310,20101705,10986431,11807181,35542046,28848601,11106362,17178748,32622804,21106550,27110297,23539767,27108686,27507910[uid]

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Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders.

Demars J, Shmela ME, Rossignol S, Okabe J, Netchine I, Azzi S, Cabrol S, Le Caignec C, David A, Le Bouc Y, El-Osta A, Gicquel C. Demars J, et al. Hum Mol Genet. 2010 Mar 1;19(5):803-14. doi: 10.1093/hmg/ddp549. Epub 2009 Dec 9. Hum Mol Genet. 2010. PMID: 20007505

A novel de novo point mutation of the OCT-binding site in the IGF2/H19-imprinting control region in a Beckwith-Wiedemann syndrome patient.

Higashimoto K, Jozaki K, Kosho T, Matsubara K, Fuke T, Yamada D, Yatsuki H, Maeda T, Ohtsuka Y, Nishioka K, Joh K, Koseki H, Ogata T, Soejima H. Higashimoto K, et al. Clin Genet. 2014 Dec;86(6):539-44. doi: 10.1111/cge.12318. Epub 2013 Dec 4. Clin Genet. 2014. PMID: 24299031

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

Poole RL, Leith DJ, Docherty LE, Shmela ME, Gicquel C, Splitt M, Temple IK, Mackay DJ. Poole RL, et al. Eur J Hum Genet. 2012 Feb;20(2):240-3. doi: 10.1038/ejhg.2011.166. Epub 2011 Aug 24. Eur J Hum Genet. 2012. PMID: 21863054 Free PMC article.

New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

Demars J, Rossignol S, Netchine I, Lee KS, Shmela M, Faivre L, Weill J, Odent S, Azzi S, Callier P, Lucas J, Dubourg C, Andrieux J, Le Bouc Y, El-Osta A, Gicquel C. Demars J, et al. Hum Mutat. 2011 Oct;32(10):1171-82. doi: 10.1002/humu.21558. Epub 2011 Sep 8. Hum Mutat. 2011. PMID: 21780245 Free article.

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.

Abi Habib W, Azzi S, Brioude F, Steunou V, Thibaud N, Das Neves C, Le Jule M, Chantot-Bastaraud S, Keren B, Lyonnet S, Michot C, Rossi M, Pasquier L, Gicquel C, Rossignol S, Le Bouc Y, Netchine I. Abi Habib W, et al. Hum Mol Genet. 2014 Nov 1;23(21):5763-73. doi: 10.1093/hmg/ddu290. Epub 2014 Jun 10. Hum Mol Genet. 2014. PMID: 24916376

(Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?

Schönherr N, Meyer E, Eggermann K, Ranke MB, Wollmann HA, Eggermann T. Schönherr N, et al. Eur J Med Genet. 2006 Sep-Oct;49(5):414-8. doi: 10.1016/j.ejmg.2006.03.001. Epub 2006 Mar 29. Eur J Med Genet. 2006. PMID: 16603426

Rapid detection of methylation change at H19 in human imprinting disorders using methylation-sensitive high-resolution melting.

Wojdacz TK, Dobrovic A, Algar EM. Wojdacz TK, et al. Hum Mutat. 2008 Oct;29(10):1255-60. doi: 10.1002/humu.20779. Hum Mutat. 2008. PMID: 18473334

Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome.

Azzi S, Steunou V, Tost J, Rossignol S, Thibaud N, Das Neves C, Le Jule M, Habib WA, Blaise A, Koudou Y, Busato F, Le Bouc Y, Netchine I. Azzi S, et al. J Med Genet. 2015 Jan;52(1):53-60. doi: 10.1136/jmedgenet-2014-102732. Epub 2014 Nov 13. J Med Genet. 2015. PMID: 25395389

Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci.

Azzi S, Rossignol S, Steunou V, Sas T, Thibaud N, Danton F, Le Jule M, Heinrichs C, Cabrol S, Gicquel C, Le Bouc Y, Netchine I. Azzi S, et al. Hum Mol Genet. 2009 Dec 15;18(24):4724-33. doi: 10.1093/hmg/ddp435. Epub 2009 Sep 14. Hum Mol Genet. 2009. PMID: 19755383

Alterations of H19 imprinting and IGF2 replication timing are infrequent in Beckwith-Wiedemann syndrome.

Squire JA, Li M, Perlikowski S, Fei YL, Bayani J, Zhang ZM, Weksberg R. Squire JA, et al. Genomics. 2000 May 1;65(3):234-42. doi: 10.1006/geno.2000.6155. Genomics. 2000. PMID: 10857747

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