PubMed (OMIM) for id: 472

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35260754,31367040,30819809,30772474,30549301,30504431,29615789,29345684,29025995,28658208,27421701,27251275,27135926,24290378,24288332,24185512,24185510,23708966,23540573,23448497,23389445,23103869,23001124,23001122,23000897,22853031,22801492,22722202,22722193,22522925,22495314,22345219,22241545,22217937,22071889,22002603,21960636,21760589,21596841,21358673,21326202,21160472,20966255,20881963,20881962,20668451,20098429,20033038,19809024,19691550,19656774,19535770,19440741,19414482,19377469,19351655,19330030,19330027,19237579,19228622,19219042,19188684,19153073,19147119,19005469,18790736,18755941,18708351,18674748,18663745,18650924,18483401,18438407,18206537,18185580,18053174,17932254,17872429,17872428,17872427,17793252,17554310,17529974,17529973,17529967,17525332,17325027,17200668,17178857,17136093,16959974,16958054,16931761,16906133,16864838,16832357,16799570,16754881,16652348,16497931,16266405,16150740,16141325,16141284,16121340,15942625,15928302,15879497,15834407,15829956,15790808,15758953,15665079,15496926,15459181,15342711,15213104,15174027,15054841,15042666,14695534,14662653,14570715,14553952,14308125,14132657,13753133,13542097,12944421,12915485,12915440,12788995,12697903,12673794,12610208,12556884,12554677,12552559,12540856,12497634,12362033,12239257,12226795,12195425,12119422,12086603,12034743,12021785,11984562,11889466,11850621,11826028,11826021,11823860,11805335,11792833,11679583,11418864,11404819,11298456,11290740,11242036,11242022,11238376,11181576,11133358,11101836,11027344,10980530,10944226,10910365,10839545,10839544,10819014,10817726,10817650,10802669,10783165,10766245,10716718,10706620,10677309,10639175,10612394,10571946,10556216,10550055,10449794,10425038,10421361,10397742,10330348,10192382,10078527,9915942,9887333,9887158,9843217,9792409,9781027,9771717,9733515,9733514,9711876,9707615,9682216,9671742,9643838,9634504,9620776,9600235,9521587,9497252,9463314,9450874,9443866,9439660,9405657,9361038,9334731,9288106,9259193,9252329,9241281,9223307,9150154,9054948,9054927,9050866,8976369,8968760,8917548,8845835,8843194,8843193,8843191,8808599,8797579,8789452,8786135,8755918,8689683,8684395,8672141,8661102,8660985,8644753,8589678,8493577,8445618,8365732,8178827,8101622,7836845,7792600,7777860,7671311,7671310,7671309,7671296,7637733,7545545,7466773,7450753,7444436,7411307,7367867,7360152,7327565,7284988,7232219,7124732,7078649,7057862,7057859,6978798,6958175,6953420,6952246,6938978,6931249,6929216,6862436,6618487,6597863,6581856,6544234,6504056,6329918,6291047,6272293,6222062,6213343,6193747,6180190,6174206,6136703,6050359,5951879,5935908,5874925,5455521,5433292,5326774,5291441,5279523,5033506,5023672,4925908,4925461,4430492,4424650,4332799,4311128,4192270,4190570,4183711,4138511,4117204,4047083,4005803,4000160,3976585,3975628,3943861,3943860,3940177,3919442,3793095,3788973,3785360,3779619,3616624,3574400,3488254,3456975,3430541,3422210,3362861,3359449,3338800,3264259,3258841,3248383,3228996,3200306,3093854,3031679,3026175,2996458,2916583,2911253,2904522,2885452,2866314,2865810,2825700,2807275,2783578,2783489,2777252,2767681,2766568,2686680,2606472,2550934,2491181,2468772,2454778,2410349,2406196,2370052,2338342,2301396,2294744,2260593,2253179,2220826,2161282,2155385,2136770,2136769,2062869,2052583,2005780,1978855,1976143,1975092,1969227,1961222,1933891,1746555,1695665,1681492,1672297,1634048,1608939,1598915,1576759,1565145,1552557,1552556,1551665,1423616,1423612,1377828,1336306,1304718,1302607,1256588,1256587,1248000,1227561,1222588,1214827,1196376,1177276,1157013,1141685,1056013,1013502,986586,857652,825857,761484,687181,666352,651946,642007,629864,533861,458837,395894,364941,354315,326376,310962,200697,191957,187527,180416,118375,92892,54765,54567[uid]

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445 results

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Page 1

Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India.

Rawat A, Tyagi R, Chaudhary H, Pandiarajan V, Jindal AK, Suri D, Gupta A, Sharma M, Arora K, Bal A, Madaan P, Saini L, Sahu JK, Ogura Y, Kato T, Imai K, Nonoyama S, Singh S. Rawat A, et al. Sci Rep. 2022 Mar 8;12(1):4036. doi: 10.1038/s41598-022-08019-0. Sci Rep. 2022. PMID: 35260754 Free PMC article.

Loss of p53 triggers WNT-dependent systemic inflammation to drive breast cancer metastasis.

Wellenstein MD, Coffelt SB, Duits DEM, van Miltenburg MH, Slagter M, de Rink I, Henneman L, Kas SM, Prekovic S, Hau CS, Vrijland K, Drenth AP, de Korte-Grimmerink R, Schut E, van der Heijden I, Zwart W, Wessels LFA, Schumacher TN, Jonkers J, de Visser KE. Wellenstein MD, et al. Nature. 2019 Aug;572(7770):538-542. doi: 10.1038/s41586-019-1450-6. Epub 2019 Jul 31. Nature. 2019. PMID: 31367040 Free PMC article.

Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.

van Os NJH, Chessa L, Weemaes CMR, van Deuren M, Fiévet A, van Gaalen J, Mahlaoui N, Roeleveld N, Schrader C, Schindler D, Taylor AMR, Van de Warrenburg BPC, Dörk T, Willemsen MAAP. van Os NJH, et al. J Med Genet. 2019 May;56(5):308-316. doi: 10.1136/jmedgenet-2018-105635. Epub 2019 Feb 28. J Med Genet. 2019. PMID: 30819809

ATM mutation spectrum in Russian children with ataxia-telangiectasia.

Suspitsin E, Sokolenko A, Bizin I, Tumakova A, Guseva M, Sokolova N, Vakhlyarskaya S, Kondratenko I, Imyanitov E. Suspitsin E, et al. Eur J Med Genet. 2020 Jan;63(1):103630. doi: 10.1016/j.ejmg.2019.02.003. Epub 2019 Feb 14. Eur J Med Genet. 2020. PMID: 30772474

Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.

Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE. Schon K, et al. Ann Neurol. 2019 Feb;85(2):170-180. doi: 10.1002/ana.25394. Ann Neurol. 2019. PMID: 30549301 Free PMC article.

Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.

van Os NJH, Hensiek A, van Gaalen J, Taylor AMR, van Deuren M, Weemaes CMR, Willemsen MAAP, van de Warrenburg BPC. van Os NJH, et al. Neurology. 2019 Jan 1;92(1):e19-e29. doi: 10.1212/WNL.0000000000006700. Epub 2018 Nov 30. Neurology. 2019. PMID: 30504431

Metabolic enzyme PFKFB4 activates transcriptional coactivator SRC-3 to drive breast cancer.

Dasgupta S, Rajapakshe K, Zhu B, Nikolai BC, Yi P, Putluri N, Choi JM, Jung SY, Coarfa C, Westbrook TF, Zhang XH, Foulds CE, Tsai SY, Tsai MJ, O'Malley BW. Dasgupta S, et al. Nature. 2018 Apr;556(7700):249-254. doi: 10.1038/s41586-018-0018-1. Epub 2018 Apr 3. Nature. 2018. PMID: 29615789 Free PMC article.

MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer.

Roberts ME, Jackson SA, Susswein LR, Zeinomar N, Ma X, Marshall ML, Stettner AR, Milewski B, Xu Z, Solomon BD, Terry MB, Hruska KS, Klein RT, Chung WK. Roberts ME, et al. Genet Med. 2018 Oct;20(10):1167-1174. doi: 10.1038/gim.2017.254. Epub 2018 Jan 18. Genet Med. 2018. PMID: 29345684 Free PMC article.

Metabolic recycling of ammonia via glutamate dehydrogenase supports breast cancer biomass.

Spinelli JB, Yoon H, Ringel AE, Jeanfavre S, Clish CB, Haigis MC. Spinelli JB, et al. Science. 2017 Nov 17;358(6365):941-946. doi: 10.1126/science.aam9305. Epub 2017 Oct 12. Science. 2017. PMID: 29025995 Free PMC article.

Recurrent and functional regulatory mutations in breast cancer.

Rheinbay E, Parasuraman P, Grimsby J, Tiao G, Engreitz JM, Kim J, Lawrence MS, Taylor-Weiner A, Rodriguez-Cuevas S, Rosenberg M, Hess J, Stewart C, Maruvka YE, Stojanov P, Cortes ML, Seepo S, Cibulskis C, Tracy A, Pugh TJ, Lee J, Zheng Z, Ellisen LW, Iafrate AJ, Boehm JS, Gabriel SB, Meyerson M, Golub TR, Baselga J, Hidalgo-Miranda A, Shioda T, Bernards A, Lander ES, Getz G. Rheinbay E, et al. Nature. 2017 Jul 6;547(7661):55-60. doi: 10.1038/nature22992. Epub 2017 Jun 28. Nature. 2017. PMID: 28658208 Free PMC article.

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