PubMed for id: 1804638

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32333597,30065953,28777491,27232676,15150781,15150779,8362917,7856641,37828548,35642635,34740639,33389762,9934972,30016436,38598969,38577740,38537559,38516780,38443545,38284966,38267311,38091642,38016422,37865978,37752692,37315767,34341456,33815101,29040863,28681861,38738460,38737775,38737552,38737299,38736876,38736872,38736750,38736041,38734691,38734674,38733310,38733189,38733165,38732523,38732180,38731939,38731931,38731925,38731905,38731820,38731818,38731802,38730350,38730328,38730325,38728468,38728465,38728335,38727716,38727137,38726000,38725045,38725033,38724995,38724946,38724937,38724551,38724525,38724507,38724151,38722808,38722804,38722405,38722212,38721668,38720573,38719265,38716769,38715608,38715279,38715189,38715113,38715103,38715098,38715086,38715063,38715046,38715010,38714961,38714948,38714718,38712705,38711318,38711223,38711130,38711055,38710842,38709988,38709425,38709242,38708362,38706963,38705917,38705597,38704802,38704475,38704374,38702946,38702807,38702721,38702695,38701252,38701209,38700789,38699388,38699383,38698421,38697929,38697830,38697731,38696597,38696583,38694501,38692869,38692139,38691622,38691570,38691546,38691487,38691025,38691001,38689733,38689269,38688917,38688637,38686720,38686454,38686204,38685731,38685243,38685121,38685080,38684994,38684576,38684436,38684435,38684313,38684312,38684311,38684308,38684302,38684300,38684298,38684295,38683245,38683157,38683077,38682608,38681765,38679724,38679587,38679482,38678611,38678424,38678345,38678059,38677116,38676203,38675991,38675958,38675896,38675887,38675854,38675833,38674931,38674857,38674452,38674450,38674447,38674442,38674434,38674428,38674426,38674423,38674408,38674397,38674395,38674382,38674380,38674375,38674371,38674365,38674361,38674358,38674071,38674044,38674009,38673966,38673878,38673876,38672523,38672521,38672488,38672484,38672463,38672461,38672417,38672413,38671566,38671472,38671463,38671013,38670961,38670948,38670716,38670586,38669634,38669389,38669367,38669090,38668754,38668051,38668037,38666607,38666359,38664779,38664733,38664418,38664339,38662754,38662716,38662679,38661383,38660906,38659011,38658823,38658754,38658687,38658636,38657605,38657460,38657444,38657442,38656651,38655849,38655812,38655690,38655493,38654924,38654395,38654356,38654225,38654044,38653846,38653789,38653565,38652803,38652475,38652464,38651168,38650129,38650033,38649998,38649973,38649921,38649918,38649898,38649831,38649818,38649068,38648771,38648205,38647244,38646989,38645867,38644962,38644511,38644284,38644281,38643552,38643142,38642933,38642579,38642280,38642164,38642155,38641933,38641668,38641238,38640781,38640601,38639795,38639351,38639155,38638480,38637876,38637854,38637827,38637559,38637332,38637309,38635656,38634215,38633760,38633254,38633246,38633156,38632656,38632591,38632524,38632312,38631766,38631582,38630025,38629201,38629074,38628584,38627861,38627844,38627815,38627775,38627644,38627621,38627125,38627095,38627049,38626659,38626532,38626530,38625590,38625436,38623803,38623684,38623671,38622758,38622573,38622524,38622191,38622020,38621915,38621910,38621141,38619739,38618720,38617829,38617006,38616927,38616716,38616334,38614530,38614227,38613910,38613865,38613342,38613207,38612920,38612901,38612818,38612725,38612696,38612648,38612593,38612588,38612584,38612397,38610028,38609546,38609428,38609424,38608693,38608674,38608089,38607975,38607917,38607030,38607023,38607006,38606789,38606298,38605367,38605286,38605121,38604792,38604438,38603765,38603608,38603467,38602868,38602501,38602320,38601163,38600521,38600369,38599303,38598338,38598070,38598037,38598033,38597819,38597818,38597420,38596219,38595329,38594752,38594640,38594301,38594285,38593805,38592784,38591901,38591341,38591167,38590524,38590440,38589954,38589930,38589916,38589367,38589357,38589248,38588858,38588001,38587549,38587548,38587439,38587174,38586596,38586466,38586452,38584647,38584335,38584252,38584145,38582735,38582145,38581124,38580983,38580957,38580818,38579585,38579416,38579030,38578558,38578475,38578387,38578368,38578360,38578354,38578040,38577561,38576161,38575892,38575661,38575601,38575573,38575527,38575107,38575099,38574833,38574109,38573397,38573021,38572648,38572647,38572513,38572476,38571958,38571440,38570875,38570774,38570685,38570547,38570366,38570058,38569279,38569273,38569152,38569035,38568967,38568932,38568911,38568465,38567724,38567606,38567309,38566992,38566246,38566229,38566089,38565881,38565666,38565591,38565516,38565515,38565511,38565508,38565507,38565504,38564303,38564005[uid]

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Results by year

Year	Number of Results
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Page 1

Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis.

Camacho A, Martínez B, Alvarez S, Gil-Fournier B, Ramiro S, Hernández-Laín A, Núñez N, Simón R. Camacho A, et al. J Neuromuscul Dis. 2020;7(3):309-313. doi: 10.3233/JND-200477. J Neuromuscul Dis. 2020. PMID: 32333597

Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy.

Hedberg-Oldfors C, Lindberg C, Oldfors A. Hedberg-Oldfors C, et al. Neurol Genet. 2018 Jul 23;4(4):e254. doi: 10.1212/NXG.0000000000000254. eCollection 2018 Aug. Neurol Genet. 2018. PMID: 30065953 Free PMC article.

Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.

Telegrafi A, Webb BD, Robbins SM, Speck-Martins CE, FitzPatrick D, Fleming L, Redett R, Dufke A, Houge G, van Harssel JJT, Verloes A, Robles A, Manoli I, Engle EC; Moebius Syndrome Research Consortium; Jabs EW, Valle D, Carey J, Hoover-Fong JE, Sobreira NLM. Telegrafi A, et al. Am J Med Genet A. 2017 Oct;173(10):2763-2771. doi: 10.1002/ajmg.a.38375. Epub 2017 Aug 4. Am J Med Genet A. 2017. PMID: 28777491 Free PMC article.

Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome?

Pasetti M, Mazzoleni F, Novelli G, Iascone M, Bozzetti A, Selicorni A. Pasetti M, et al. Am J Med Genet A. 2016 Aug;170(8):2191-5. doi: 10.1002/ajmg.a.37767. Epub 2016 May 27. Am J Med Genet A. 2016. PMID: 27232676

Severe congenital myopathy with Möbius, Robin, and Poland sequences: new aspects of the Carey-Fineman-Ziter syndrome.

Dufke A, Riethmüller J, Enders H. Dufke A, et al. Am J Med Genet A. 2004 Jun 15;127A(3):291-3. doi: 10.1002/ajmg.a.20686. Am J Med Genet A. 2004. PMID: 15150781

Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome.

Verloes A, Bitoun P, Heuskin A, Amrom D, van de Broeck H, Nikkel SM, Chudley AE, Prasad AN, Rusu C, Covic M, Toutain A, Moraine C, Parisi MA, Patton M, Martin JJ, Van Thienen MN. Verloes A, et al. Am J Med Genet A. 2004 Jun 15;127A(3):277-87. doi: 10.1002/ajmg.a.20687. Am J Med Genet A. 2004. PMID: 15150779

Congenital nonprogressive myopathy with Möbius and Robin sequence--the Carey-Fineman-Ziter syndrome: a confirmatory report.

Schimke RN, Collins DL, Hiebert JM. Schimke RN, et al. Am J Med Genet. 1993 Jul 1;46(6):721-3. doi: 10.1002/ajmg.1320460625. Am J Med Genet. 1993. PMID: 8362917

New case of the Carey-Fineman-Ziter syndrome.

Baraitser M, Reardon W. Baraitser M, et al. Am J Med Genet. 1994 Nov 1;53(2):163-4. doi: 10.1002/ajmg.1320530208. Am J Med Genet. 1994. PMID: 7856641

Retinal mid-peripheral capillary free zones are enlarged in cognitively unimpaired older adults at high risk for Alzheimer's disease.

Arthur E, Ravichandran S, Snyder PJ, Alber J, Strenger J, Bittner AK, Khankan R, Adams SL, Putnam NM, Lypka KR, Piantino JA, Sinoff S. Arthur E, et al. Alzheimers Res Ther. 2023 Oct 12;15(1):172. doi: 10.1186/s13195-023-01312-8. Alzheimers Res Ther. 2023. PMID: 37828548 Free PMC article.

Impaired activity of the fusogenic micropeptide Myomixer causes myopathy resembling Carey-Fineman-Ziter syndrome.

Ramirez-Martinez A, Zhang Y, van den Boogaard MJ, McAnally JR, Rodriguez-Caycedo C, Chai AC, Chemello F, Massink MP, Cuppen I, Elferink MG, van Es RJ, Janssen NG, Walraven-van Oijen LP, Liu N, Bassel-Duby R, van Jaarsveld RH, Olson EN. Ramirez-Martinez A, et al. J Clin Invest. 2022 Jun 1;132(11):e159002. doi: 10.1172/JCI159002. J Clin Invest. 2022. PMID: 35642635 Free PMC article.

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