PubMed for id: 4763

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38448021,37996843,37945316,37806041,37614007,37608248,37562365,37471196,37301319,37186028,37081086,37075699,37062455,36760809,36689660,35941319,35885913,35538247,35188187,35024939,34928431,34887559,34779495,34750850,34707296,34694046,34681033,34596808,34547192,34427956,34418705,34284238,34080803,33999308,33951044,33911094,33484105,33476564,33443663,33415784,33231931,33221173,33046013,32767931,32571896,32439933,32405727,32353955,32352596,32252413,32126153,32098826,32026187,31979111,31886188,31836666,31776437,31595648,31591187,31533651,31466283,31199580,30977107,30967630,30778836,30703230,30610056,30530636,30478644,30423024,30408279,30308447,30230541,30190611,30098240,30098238,30046999,30014477,29914388,29872168,29730711,29680440,29559732,29498099,29471550,29449315,29367450,29290338,29266342,29185159,28961165,28637487,28454108,28422438,28267273,28230061,28230002,28213670,28068329,28067895,27980226,27838393,27622733,27374410,27234610,27107091,27078850,27074763,27060315,26980030,26969325,26962827,26861459,26822862,26758488,26666878,26523645,26509978,26478990,26345759,26214590,26178382,26111455,26076063,25824590,25403449,25370043,25234363,25182393,25166435,25078596,25027832,24932921,24922668,24795011,24789688,24708790,24676424,24576830,24413922,24375753,24249802,24218100,23954459,23947441,23913538,23906300,23758643,23668869,23312374,23288408,23244495,23222849,23165953,23145129,23047742,23010473,22965773,22965642,22925204,22807134,22585738,22581253,22573716,22488919,22412049,22354384,22294457,22250039,22241097,22240541,22207399,22190464,22125493,22108604,22015770,21732117,21365283,21337692,21244408,21236316,21089070,20927530,20687928,20655465,20602485,20587590,20543202,20505189,20503322,20442305,20428205,20422842,20358387,20301288,20164853,20015894,20002172,19845691,19650418,19601812,19417008,19292874,19238080,19221814,19220708,19061981,18802710,18546366,18511569,18503770,18484666,18407053,18331998,18316778,18214791,18212816,18183042,18172006,18086893,18055911,18021924,17960768,17914445,17876295,17726231,17668375,17563086,17514731,17426081,17353900,17295913,17160901,16944272,16944271,16908010,16835897,16830335,16813595,16773574,16741618,16479075,16470740,16467218,16199547,16169856,16081245,16005615,15944227,15735964,15627836,15523642,15520408,15233998,15146469,15096131,14988005,13680360,12963615,12872266,12807981,12746402,12707950,12566521,12552569,12522551,12483293,12387455,12368469,12199909,12095621,12073021,11934389,11896214,11857752,11754043,11748857,11735023,11727265,11704931,11258625,11140831,10721668,10712197,10625171,10607834,10553997,10336779,10220149,9706718,9668168,9639526,9529361,9300663,9298829,9150739,9101300,9003501,9002664,8834249,8825042,8807336,8664912,8602361,8544190,8417346,8317503,8176268,8081387,8069310,7981724,7981679,7904209,7903661,7874161,7774960,7649559,7633431,7570581,7519874,2491776,2125369,2121370,1937470,1923522,1757093,1745350,1715669,1662505,1457041,1339276,1302608,38216123,38127282,37990867,37743642,37147639,36908940,35702826,35613620,33574490,33422488,33187641,33078527,32243842,32142667,31401120,31234911,30104415,29703253,29522274,29493886,29127119,28804759,28515046,28498454,28380429,28174230,27862886,27827403,27798892,27313208,26861207,26555092,26190195,25899471,25786243,25483400,24535670,24361808,24334617,24296828,23624750,23583712,23528211,23460398,23437333,23335975,23292448,23077663,22962301,22293200,21728811,21674567,21551249,21278392,21157378,21142935,20624961,20571392,20160346,20082856,19940123,19449407,19048115,19041782,18485440,17880527,17581973,17404841,17299016,17187824,16380919,16374483,16116616,15988004,15583390,15523626,15389774,14647436,13679444,12730209,12438263,12077339,11751683,7686513,7633452,2116237,1783401,1570015,1568247,1550670,37088138,36973520,34948100,34021083,33570696,33293695,33230298,31647501,31250151,31053152,30705246,30549028,30543142,30479396,29643433,29483232,28646022,28380455,28296713,28124441,28108518,27659822,27630302,27494896,27482814,27418650,26635368,25775093,25267367,24760680,24370551,24186807,23481210,23407919,23171796,23135915,22837079,22399775,21782795,21280148,20725927,20680410,20513137,20124472,20052761,20006588,19718661,19142971,17216419,16835260,12191989,12152785,11727199,8836031,7959746,2134734,37515639,34530870,34399888,34184824,32447321,30104724,29921698,27791021,27477693,26490262,25486365,24509877,22751498,22096509,21931722,20129251,19120036,18948576,18592002,17096025,16914719,14741381,8628317,2121371,2114220,1719426,32575496,31036704,29760048,23423222,22945628,22700876,19215943,17999360,17200120,16648142,15371411,7499408,30280776,28423318,23082153,21283084,18218617,17102080,15767669,11896613,34626534,29392777,26614388,26189818,25070947,22105171,20435627,19773259,19144660,15999204,14722914,12660952,11356864,8931693,8825634,25109740,18215124,16644864,16405917,17053831,21478499,19291764,16138909,20301612,20301471,20160012,27507811,23027611,30655611,16083285,19351817,25754235,28319113,28205554,31240132,31024071,10862698,30442766,29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623 results

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Page 1

[Analysis of NF1 gene variants in a Chinese pedigree and a sporadic patient with Neurofibromatosis type 1].

Zhao X, Zhou K, Zhang Q, Cai L. Zhao X, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Mar 10;41(3):317-321. doi: 10.3760/cma.j.cn511374-20221123-00811. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38448021 Chinese.

Impact of neurofibromatosis type 1 with plexiform neurofibromas on the health-related quality of life and work productivity of adult patients and caregivers in the UK: a cross-sectional survey.

Yoo HK, Porteous A, Ng A, Haria K, Griffiths A, Lloyd A, Yang X, Kazeem G, Barut V. Yoo HK, et al. BMC Neurol. 2023 Nov 23;23(1):419. doi: 10.1186/s12883-023-03429-7. BMC Neurol. 2023. PMID: 37996843 Free PMC article.

Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.

Ramamoorthy S, Lebrecht D, Schanze D, Schanze I, Wieland I, Andrieux G, Metzger P, Hess M, Albert MH, Borkhardt A, Bresters D, Buechner J, Catala A, De Haas V, Dworzak M, Erlacher M, Hasle H, Jahnukainen K, Locatelli F, Masetti R, Stary J, Turkiewicz D, Vinci L, Wlodarski MW, Yoshimi A, Boerries M, Niemeyer CM, Zenker M, Flotho C. Ramamoorthy S, et al. Br J Haematol. 2024 Feb;204(2):595-605. doi: 10.1111/bjh.19190. Epub 2023 Nov 9. Br J Haematol. 2024. PMID: 37945316

Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants.

Bildirici Y, Kocaaga A, Karademir-Arslan CN, Yimenicioglu S. Bildirici Y, et al. Pediatr Neurol. 2023 Dec;149:69-74. doi: 10.1016/j.pediatrneurol.2023.08.036. Epub 2023 Sep 11. Pediatr Neurol. 2023. PMID: 37806041

Differential Gene Expression Profiles and Pathways Highlight the Role of Osteoimmunology in Neurofibromatosis Type 1-Related Dystrophic Scoliosis With Osteopenia.

Li S, Wu Z, Ma Y, Zhu Y, Feng Z, Zhu Z, Qiu Y, Mao S. Li S, et al. Spine (Phila Pa 1976). 2023 Nov 15;48(22):1588-1598. doi: 10.1097/BRS.0000000000004805. Epub 2023 Aug 23. Spine (Phila Pa 1976). 2023. PMID: 37614007

Aberrant oscillatory activity in neurofibromatosis type 1: an EEG study of resting state and working memory.

Booth SJ, Garg S, Brown LJE, Green J, Pobric G, Taylor JR. Booth SJ, et al. J Neurodev Disord. 2023 Aug 22;15(1):27. doi: 10.1186/s11689-023-09492-y. J Neurodev Disord. 2023. PMID: 37608248 Free PMC article.

Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation.

Lu YT, Rejiepu B, Zhang D, Cai DC, Yang KQ, Tian T, Zhou XL, Fan P. Lu YT, et al. Kidney Blood Press Res. 2023;48(1):568-577. doi: 10.1159/000533144. Epub 2023 Aug 10. Kidney Blood Press Res. 2023. PMID: 37562365 Free PMC article.

Neurological comorbidities and novel mutations in Turkish cases with neurofibromatosis type 1.

Evlice A, Bişgin A, Koç F. Evlice A, et al. Ideggyogy Sz. 2023 Jul 30;76(7-8):270-274. doi: 10.18071/isz.76.0270. Ideggyogy Sz. 2023. PMID: 37471196 Free article. English.

Distinct Transcriptional Profiles in the Different Phenotypes of Neurofibroma from the Same Subject with Neurofibromatosis 1.

Wang WN, Koguchi-Yoshioka H, Nimura K, Watanabe R, Tanemura A, Fujimoto M, Wataya-Kaneda M. Wang WN, et al. J Invest Dermatol. 2024 Jan;144(1):133-141.e4. doi: 10.1016/j.jid.2023.03.1688. Epub 2023 Jun 9. J Invest Dermatol. 2024. PMID: 37301319

Analysis of 200 unrelated individuals with a constitutional NF1 deep intronic pathogenic variant reveals that variants flanking the alternatively spliced NF1 exon 31 [23a] cause a classical neurofibromatosis type 1 phenotype while altering predominantly NF1 isoform type II.

Koczkowska M, Chen Y, Xie J, Callens T, Gomes A, Wimmer K, Messiaen LM. Koczkowska M, et al. Hum Genet. 2023 Jul;142(7):849-861. doi: 10.1007/s00439-023-02555-z. Epub 2023 Apr 25. Hum Genet. 2023. PMID: 37186028 Free PMC article.

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