PubMed for id: 75555

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38721582,38296632,37644569,37637690,36833185,36252910,36066768,35446975,33478437,33438842,32553112,31981611,29395072,28509696,28184102,28054444,27073431,23894113,23716951,22308078,22228756,21253317,20520617,20301618,19737635,19204018,19005989,18813423,18470945,18280297,17910067,17668723,17351307,17295837,17221874,16892410,16429401,16088922,15158448,14671925,12925729,12915476,11751684,11484202,11478532,11404093,11102974,10654325,10631923,10533063,10083645,10051003,9973281,9823498,9425907,8669439,8357560,8133838,8084622,7640757,6741990,3180506,2667456,2279502,1951448,1640945,1440915,38753646,38664255,38643895,38584358,38406861,38342448,38267666,38237710,38068450,38057602,38013318,37862745,37841619,37748431,37742612,37722495,37446749,37420472,37393412,37318639,37215262,37186972,37154943,37072625,36820934,36779634,36556968,36524008,36509618,36361195,36299116,36204592,36177093,36164551,36115888,36092170,35678937,35606395,35485419,35472933,35439616,35385982,35380023,35178609,35144953,35127749,35048212,35026742,34830653,34796540,34682863,34399759,34384106,34315430,34266047,34245432,34193961,34172019,34146143,34144141,34112790,34045135,34031165,33479846,33144269,33091641,32910302,32741651,32730933,32627100,32550201,32533880,32503328,32483672,32399674,32162022,32094033,31909338,31580873,31489959,31471889,31419331,31358359,31275880,31149259,31132447,30881687,30815747,30776500,30708186,30648658,30539270,30519958,30455818,30421324,30328591,30309730,30291776,30291470,30128621,30097641,30093271,30092042,29973294,29858633,29802962,29675517,29609380,29576457,29519008,29468478,29438672,29392355,29167971,29152619,29102474,29090329,29041528,28988401,28963079,28884422,28790644,28743851,28734710,28733715,28603542,28479495,28379565,28300346,28254709,28233186,28159710,28098920,28011742,27933656,27900426,27743070,27554425,27519968,27450198,27177578,27130256,27112305,27042671,26907049,26815904,26766721,26754792,26378772,26350947,26343408,26293169,26092650,26016807,26014806,25988660,25956285,25862585,25835904,25571842,25530526,25348077,25304457,25149857,24998455,24961720,24948332,24921305,24896268,24853880,24787802,24760244,24718242,24687386,24361639,24328167,24327347,24241171,24196870,23873699,23688341,23681084,23603097,23562130,23526463,23468074,23391494,23389138,23341489,23262884,23262855,23228370,23152907,23052939,22941973,22724116,22700337,22581295,22274424,22274024,22274012,22257604,22187782,22109481,22083541,21887701,21866884,21747441,21706298,21575694,21263627,21263624,19950928,19900784,19846929,19747992,19724590,19373469,18545513,18444657,18234577,16928031,16545454,15827600,15684520,12074652,12048526,11279021,10341258,8645332,8068965,3943255,32492250,29110636,26498647,26311113,25336016,24740420,22903933,21846383,21062744,20053786,20003547,19247946,18000979,18000524,17431915,17426652,16971658,16790473,16670092,16443351,16221172,15968588,15172686,12590351,12482961,12393809,12200128,12065233,11934862,11688560,11511981,11287198,11074491,10985862,10965108,10610715,10602995,10343095,8818947,6542310,38433544,38369057,38190015,38041527,38036056,38009729,37850386,37775434,37751731,37643181,37454879,37371140,37268221,37161708,37036763,36971909,36967598,36907338,36746341,36702101,36694079,36621330,36514157,36377652,36285361,35926385,35758751,35692039,35654977,35563481,35438971,35331251,35180230,35013456,34997660,34962713,34880118,34851437,34844121,34644010,34573286,34533678,34475529,34165918,33811134,33693468,33667624,33652180,33383214,33232597,33191220,33169459,33002731,32555345,32046625,32000688,31941524,31464437,31427537,31341365,31233889,31177217,31141460,31106358,30917710,30888312,30792047,30775902,30654731,30547463,30098984,30004050,29629656,29455208,29363414,29196491,29174701,29108883,28984621,28928906,28842728,28827456,28543544,28337537,28161997,27900437,27536858,27421891,27388771,27295948,27214872,27080775,26907807,26850210,26826007,26517785,26485010,26248666,26134654,26117917,26089480,26036173,26027242,26020516,25955104,25934042,25826667,25784765,25653381,25645851,25589756,25532942,25486366,25485891,25483586,25482928,25467984,25450205,25445793,25420144,25225106,25185516,25160752,25098617,24982424,24776385,24662727,24556032,24507102,24389043,24334152,24316470,24316256,24262936,24231430,24178005,24076216,24055755,23973312,23969230,23927876,23916784,23906635,23867766,23851142,23850592,23831917,23830905,23827780,23810909,23743148,23726524,23725749,23664167,23653387,23606422,23469118,23240828,23200671,23183018,23100439,22842189,22623686,22542187,22496727,22462479,22434587,22363558,22273000,22022509,21945599,21940435,21849537,21846485,21823317,21772248,21755408,21693515,21683475,21618613,21490585,21317806,21244679,21148560,21059000,20980835,20846120,20573726,20156250,19998029,19638715,19322022,19278755,19225104,19040021,18716208,18597857,18562603,18359228,17719605,17509456,17445224,17078060,17021176,16723203,16099324,15925111,15908123,15843021,15567041,15339296,15121190,15086283,15051806,12496157,12361981,12351712,12177213,1200889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Results by year

Year	Number of Results
1976	1
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573 results

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Page 1

A Genotyped Case of Townes-Brocks Syndrome with Absent Pulmonary Valve Syndrome from Turkey.

Ilhan O, Gumus E, Hakan N, Istar H, Harmandar B, Olgun H, Karakus SC, Cullu N, Kohlhase J, Sutherland JD, Barrio R. Ilhan O, et al. J Pediatr Genet. 2021 Dec 10;13(2):139-143. doi: 10.1055/s-0041-1740371. eCollection 2024 Jun. J Pediatr Genet. 2021. PMID: 38721582 Free PMC article.

Molecular diagnosis, clinical evaluation and phenotypic spectrum of Townes-Brocks syndrome: insights from a large Chinese hearing loss cohort.

Yan X, Wang J, Yang W, Li L, Shen T, Geng J, Zhang Q, Zhong M, Xiong W, Bu F, Lu Y, Zhao Y, Cheng J, Yuan H. Yan X, et al. J Med Genet. 2024 Apr 19;61(5):459-468. doi: 10.1136/jmg-2023-109579. J Med Genet. 2024. PMID: 38296632 Free PMC article.

Identification of two novel SALL1 mutations in chinese families with townes-brocks syndrome and literature review.

Wang Z, Sun Z, Diao Y, Wang Z, Yang X, Jiang B, Wu Y, Liu G. Wang Z, et al. Orphanet J Rare Dis. 2023 Aug 29;18(1):250. doi: 10.1186/s13023-023-02874-4. Orphanet J Rare Dis. 2023. PMID: 37644569 Free PMC article. Review.

Townes-Brocks syndrome with adult renal impairment in a Chinese family: A case report.

Wu J, Zhang J, Xiao TL, He T. Wu J, et al. World J Clin Cases. 2023 Aug 16;11(23):5567-5572. doi: 10.12998/wjcc.v11.i23.5567. World J Clin Cases. 2023. PMID: 37637690 Free PMC article.

Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes-Brocks Syndrome.

Innoceta AM, Olivucci G, Parmeggiani G, Scarano E, Pragliola A, Graziano C. Innoceta AM, et al. Genes (Basel). 2023 Jan 19;14(2):258. doi: 10.3390/genes14020258. Genes (Basel). 2023. PMID: 36833185 Free PMC article. Review.

Townes-Brocks syndrome with craniosynostosis in two siblings.

Lugli L, Rossi C, Ceccarelli PL, Calabrese O, Bedetti L, Miselli F, Bianchini MA, Iughetti L, Berardi A. Lugli L, et al. Eur J Med Genet. 2022 Dec;65(12):104642. doi: 10.1016/j.ejmg.2022.104642. Epub 2022 Oct 15. Eur J Med Genet. 2022. PMID: 36252910

Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2.

Christians A, Kesdiren E, Hennies I, Hofmann A, Trowe MO, Brand F, Martens H, Gjerstad AC, Gucev Z, Zirngibl M, Geffers R, Seeman T, Billing H, Bjerre A, Tasic V, Kispert A, Ure B, Haffner D, Dingemann J, Weber RG. Christians A, et al. Hum Genet. 2023 Jan;142(1):73-88. doi: 10.1007/s00439-022-02481-6. Epub 2022 Sep 6. Hum Genet. 2023. PMID: 36066768 Free PMC article.

[Analysis of SALL1 gene variant in a boy with Townes-Brocks syndrome without anal atresia].

Wei H, Sun L, Li M, Chen H, Han W, Fu W, Zhong J. Wei H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):401-404. doi: 10.3760/cma.j.cn511374-20200831-00637. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35446975 Chinese.

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Yang G, Yin Y, Tan Z, Liu J, Deng X, Yang Y. Yang G, et al. BMC Med Genomics. 2021 Jan 21;14(1):24. doi: 10.1186/s12920-021-00871-9. BMC Med Genomics. 2021. PMID: 33478437 Free PMC article.

Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature.

Beaudoux O, Lebre AS, Doco Fenzy M, Spodenkiewicz M, Canivet E, Colosio C, Poirsier C. Beaudoux O, et al. Am J Med Genet A. 2021 Mar;185(3):937-944. doi: 10.1002/ajmg.a.62050. Epub 2021 Jan 13. Am J Med Genet A. 2021. PMID: 33438842 Review.

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