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37994132,37171606,36292677,34933379,34524523,34051360,29785027,29706636,28371217,26174613,25252072,24898829,23593745,22089611,21218045,21029860,17579672,16688741,16376512,16222662,16125058,14990586,14729260,11559911,11449489,10660327,10602370,10204841,8968741,8651295,8166424,7726227,7726224,7697714,1415255,38616920,38609433,38507506,38477352,38378963,38333682,38276254,38272925,38136279,38126976,38101998,38038252,38003676,37986934,37957569,37925436,37904029,37891325,37812190,37693131,37629169,37625115,37609273,37540673,37499040,37460674,37443610,37320994,37296979,37278280,37200088,37190157,37169669,37133522,37131619,37107548,37013192,37010579,37008737,36933012,36894374,36845293,36805596,36759506,36756391,36711727,36702689,36675163,36541551,36442427,36440760,36350851,36308711,36247274,36123880,36104326,36073547,36031702,36028493,36010860,35998910,35984514,35976056,35962714,35939517,35920001,35900487,35872157,35740680,35738587,35710802,35691289,35593993,35592768,35444965,35406561,35384159,35365243,35317025,35133485,35127601,35021084,34951647,34937632,34853665,34826036,34780483,34763709,34743173,34738503,34729095,34624827,34348791,34330696,34261040,34220718,34162889,34118569,34062956,33972520,33946962,33942960,33909709,33849943,33835015,33678158,33513905,33489866,33431668,33398522,33287933,33197500,33194637,33173999,33106857,32856116,32849845,32770176,32729303,32642724,32610139,32580781,32376827,32227259,32218364,32203094,32194873,32060267,32015155,32011516,31908895,31895940,31781420,31746429,31713968,31706351,31705439,31631027,31628488,31611308,31608750,31599805,31551363,31501157,31499081,31454099,31361513,31329278,31319423,31290759,31225581,31180492,31152217,31062529,31018710,30972500,30833786,30808951,30803555,30745338,30655743,30625996,30510993,30499772,30465651,30423196,30405805,30335163,30315258,30301828,30226859,30194745,30192422,30081149,30073524,30073207,29944970,29937341,29889582,29883366,29846902,29796169,29793052,29730439,29725455,29693772,29669917,29602769,29564591,29550880,29550762,29545335,29535300,29527387,29404769,29404388,29378238,29359122,29095838,29091765,29084956,29050070,29034211,29026176,28905256,28871469,28855512,28796347,28719461,28684426,28666128,28600056,28591701,28554548,28549927,28488024,28487353,28452859,28446958,28395727,28371511,28341773,28294389,28271343,28255664,28251430,28250240,28185325,28093507,27863708,27796734,27788029,27713914,27657132,27578458,27499896,27478330,27469217,27407094,27314101,27311324,27209355,27171262,27162024,27029610,26997013,26991472,26968173,26918938,26891131,26860117,26833422,26773061,26741321,26692951,26646632,26622943,26428317,26395639,26373281,26373274,26340527,26291601,26210286,26190196,26143912,26055325,26022452,26017030,26016385,26012739,26001292,25976463,25971279,25936994,25926359,25865896,25803170,25608029,25606380,25538301,25487495,25479829,25452430,25437195,25427834,25417162,25395668,25229770,25210493,25077701,24990380,24834375,24810474,24651726,24559763,24458433,24327140,24148618,24130152,23954140,23916100,23904111,23765250,23681356,23563309,23453691,23396441,23361940,23329831,23284920,23249563,23185534,23114596,23104868,23092150,22976303,22918800,22886134,22869205,22829774,22787211,22575867,22516698,22391447,22240898,22129561,22102817,21851155,21719641,21676266,21672208,21666679,21666677,21653732,21505078,21421568,21310198,21267006,21252315,21029854,20885787,20651253,20602808,20301622,20159591,20154359,20147399,20110566,19874722,19834512,19774083,19489441,19444003,19291773,19088125,19020049,19005673,18922870,18842153,18409179,18366812,18227278,17957225,17609377,17531976,17296936,16955409,16813605,16763962,16648585,16628246,16480427,16266892,16100724,15702418,15668733,15633166,15363844,15350606,15252119,15242786,14592816,12953102,12858175,12673795,11069290,11015451,10995512,10742099,10699177,10632111,10570185,9695621,9363663,9244431,9043863,8996969,8644709,8166423,8017970,8014976,7726225,31980177,31168008,30231518,23622180,23028133,19406101,16722615,15649460,15508018,10872473,9499421,1770529,38635931,38593805,38551383,38516268,38495012,38485198,38448900,38442712,38431560,38417627,38347151,38315329,38286053,38267516,38252063,38158760,38157540,38079020,38066546,38058042,38015541,38003967,38000678,37986400,37954063,37890990,37872275,37796179,37761808,37733272,37727135,37717265,37713468,37675821,37652542,37635444,37633949,37565289,37527244,37525498,37519068,37511127,37503540,37470575,37421953,37394872,37381037,37350195,37329382,37311690,37262394,37248527,37231433,37185778,37127643,37114614,37093708,37081608,37054784,37043120,37032198,37017995,36996377,36973199,36973198,36959422,36940725,36929449,36924489,36892668,36883553,36879111,36856733,36856023,36854674,36849702,36840626,36815532,36788102,36788021,36779771,36751054,36690805,36689342,36661215,36651583,36647827,36646614,36601748,36572828,36525930,36520636,36455270,36435047,36418240,36367018,36350506,36323542,36310451,36271929,36246555,36233232,36232428,36166960,36154786,36152406,36138078,361108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[Analysis of clinical features and ATRX gene variants in a Chinese pedigree affected with X-linked alpha thalassemia mental retardation (ATR-X) syndrome].

Dong R, Yang Y, Guo H, Gao M, Lyu Y, Li Y, Yang X, Liu Y. Dong R, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Dec 10;40(12):1508-1511. doi: 10.3760/cma.j.cn511374-20210702-00565. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37994132 Chinese.

A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.

Tillotson R, Yan K, Ruston J, DeYoung T, Córdova A, Turcotte-Cardin V, Yee Y, Taylor C, Visuvanathan S, Babbs C, Ivakine EA, Sled JG, Nieman BJ, Picketts DJ, Justice MJ. Tillotson R, et al. Hum Mol Genet. 2023 Jul 20;32(15):2485-2501. doi: 10.1093/hmg/ddad075. Hum Mol Genet. 2023. PMID: 37171606 Free PMC article.

Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights.

Vaisfeld A, Taormina S, Simonati A, Neri G. Vaisfeld A, et al. Genes (Basel). 2022 Oct 4;13(10):1792. doi: 10.3390/genes13101792. Genes (Basel). 2022. PMID: 36292677 Free PMC article.

Epilepsy and Sleep in the ATR-X Syndrome.

Mierlo PV, Braakman H, Vandenbussche N, Schelhaas HJ, Pillen S. Mierlo PV, et al. Neuropediatrics. 2022 Apr;53(2):109-114. doi: 10.1055/s-0041-1740551. Epub 2021 Dec 21. Neuropediatrics. 2022. PMID: 34933379

ATR-X syndrome: genetics, clinical spectrum, and management.

León NY, Harley VR. León NY, et al. Hum Genet. 2021 Dec;140(12):1625-1634. doi: 10.1007/s00439-021-02361-5. Epub 2021 Sep 15. Hum Genet. 2021. PMID: 34524523

A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.

Aiba K, Nakamura Y, Sugimoto M, Yatsuka Y, Okazaki Y, Murayama K, Ohtake A, Yokochi K, Saitoh S. Aiba K, et al. Eur J Med Genet. 2021 Aug;64(8):104251. doi: 10.1016/j.ejmg.2021.104251. Epub 2021 May 27. Eur J Med Genet. 2021. PMID: 34051360

Targeting G-quadruplex DNA as cognitive function therapy for ATR-X syndrome.

Shioda N, Yabuki Y, Yamaguchi K, Onozato M, Li Y, Kurosawa K, Tanabe H, Okamoto N, Era T, Sugiyama H, Wada T, Fukunaga K. Shioda N, et al. Nat Med. 2018 Jun;24(6):802-813. doi: 10.1038/s41591-018-0018-6. Epub 2018 May 21. Nat Med. 2018. PMID: 29785027 Free article.

Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients.

Masliah-Planchon J, Lévy D, Héron D, Giuliano F, Badens C, Fréneaux P, Galmiche L, Guinebretierre JM, Cellier C, Waterfall JJ, Aït-Raïs K, Pierron G, Glorion C, Desguerre I, Soler C, Deville A, Delattre O, Michon J, Bourdeaut F. Masliah-Planchon J, et al. Eur J Hum Genet. 2018 Aug;26(8):1217-1221. doi: 10.1038/s41431-018-0147-x. Epub 2018 Apr 30. Eur J Hum Genet. 2018. PMID: 29706636 Free PMC article.

Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

Ji J, Quindipan C, Parham D, Shen L, Ruble D, Bootwalla M, Maglinte DT, Gai X, Saitta SC, Biegel JA, Mascarenhas L. Ji J, et al. Am J Med Genet A. 2017 May;173(5):1390-1395. doi: 10.1002/ajmg.a.38184. Epub 2017 Mar 28. Am J Med Genet A. 2017. PMID: 28371217 Free PMC article.

Volvulus and bowel obstruction in ATR-X syndrome-clinical report and review of literature.

Horesh N, Pery R, Amiel I, Shwaartz C, Speter C, Guranda L, Gutman M, Hoffman A. Horesh N, et al. Am J Med Genet A. 2015 Nov;167A(11):2777-9. doi: 10.1002/ajmg.a.37252. Epub 2015 Jul 14. Am J Med Genet A. 2015. PMID: 26174613 Review.

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