PubMed for id: 1388085

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37198960,37085014,37003575,37003574,36980813,36871884,36822569,36416551,36379434,36271830,35810420,35741804,35726031,35724817,35328081,35328058,35212738,35093143,34921227,34664257,34487544,34293710,34246244,34229322,34228749,33868243,33669083,33596411,33256793,33176972,33098373,33023580,32978894,32798301,32619252,32581363,32578677,32343233,32113700,32107139,32077592,32018267,32005695,31953239,31928837,31678916,31445533,31400141,31391370,31319798,31096160,31010831,30875393,30308089,30216695,29696806,29193617,28688038,28625614,28602932,28346225,28186601,27846046,27774766,27741506,27682877,27665090,27605097,27465101,27369382,27262749,27235670,27166162,27164845,26822410,26690596,26523402,26306707,26106036,26043508,25970100,25722017,25712135,25475740,25388448,25368240,25329715,25261847,25195018,25172301,24906019,24851635,24700646,24648389,24604040,24581183,24529875,24502041,24457264,24375995,24341139,24136618,24132240,24123848,24116970,24019301,23918747,23913711,23782370,23756441,23636907,23586500,23495222,23285208,23239632,23225497,23217126,23073310,22964474,22890305,22821680,22821627,22760760,22718018,22713806,22608712,22581654,22576213,22509352,22429594,22377632,22370328,22334386,22286092,22214592,22188645,22159456,22021332,21984749,21964744,21585124,21567907,21519861,21344629,21271662,21271651,21242650,21151896,20972251,20886614,20837174,20833799,20824892,20679667,20652448,20649559,20607707,20573555,20551607,20538793,20520618,20452996,20164239,20146355,20081802,19864454,19725130,19642112,19508415,19454329,19262083,19190333,19099200,19077675,19059493,19016678,18932125,18925681,18924166,18837054,18830230,18641517,18412126,18350294,18257100,18160797,18160776,18095987,17982487,17949285,17941976,17937441,17890169,17823943,17786367,17696125,17683084,17598130,17480006,17475918,17456720,17452258,17394858,17361086,17343201,17305639,17301820,17290276,17236205,17210724,17103440,17099929,17044870,17028864,16954659,16835918,16818033,16719275,16691586,16690971,16619658,16530708,16506277,16418593,16388084,16359827,16353169,16333825,16287077,16205629,16152642,16114049,16080292,16015648,16012732,15957176,15948183,15937949,15892143,15822126,15810004,15805155,15776250,15770670,15762041,15750894,15744521,15723295,15718099,15704124,15672406,15637589,15633179,15578619,15517821,15475940,15350305,15337472,15328403,15310400,15305192,15292942,15264291,15264288,15264279,15258833,15239143,15218242,15202004,15162015,15106122,15057127,15034864,15011861,14976524,14974911,14755469,14750185,14716109,14712485,14708108,14662793,14581340,14556246,14555491,12974736,12915473,12884426,12814799,12813767,12810248,12676898,12660174,12638521,12621583,12599190,12569282,12545169,12461754,12438240,12414816,12376211,12362030,12161359,12124802,12116274,12110498,12110043,12094250,12082026,12081203,12045857,12036593,12023583,12007195,12000361,11999560,11978965,11977159,11950856,11891684,11857315,11839952,11809703,11793440,11790983,11778272,11755099,11754066,11754062,11747329,11715006,11702212,11689483,11581185,11484197,11474170,11471177,11464899,11438460,11433400,11393537,11351300,11291047,11256675,11251999,11251998,11237059,11221846,11221843,11186887,11164191,11146468,11137560,11135433,11129329,11115560,11069034,11043836,11005146,10946358,10936048,10908216,10894930,10862041,10862033,10861453,10850412,10828595,10797262,10770180,10766989,10766185,10754490,10682663,10680598,10674021,10631140,10631136,10602517,10564589,10521304,10519360,10507727,10495423,10491433,10486217,10482987,10479485,10463609,10458409,10441745,10400984,10395805,10389976,10383136,10378509,10353609,10337999,10231401,10226521,10197629,10102634,10036189,9887335,9856497,9842965,9815778,9800191,9759294,9754644,9735416,9733029,9699520,9688143,9685700,9666809,9664124,9654204,9628816,9624537,9558398,9533520,9523193,9516825,9515797,9491329,9484941,9484880,9484782,9426689,9413155,9393598,9341890,9293446,9226369,9223669,9208010,9187670,9150724,9132488,9115960,9096359,9071587,9071570,9067271,9037599,9012464,8993980,8954016,8913728,8887655,8880580,8826850,8822947,8759602,8698188,8690510,8665486,8651304,8641694,8618920,8595154,8533823,8533803,8528584,8352277,8275465,8274735,8270253,8268908,8230159,8225318,8202519,8198131,8194054,8188284,8103404,8101470,8095365,8094291,8093350,8033150,8033058,7951234,7949181,7949101,7942844,7927325,7923113,7907944,7906993,7882336,7881408,7850750,7849709,7838528,7829211,7789182,7759082[uid]

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Results by year

Year	Number of Results
1993	10
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500 results

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Page 1

Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.

Moffitt BA, Oberman LM, Beamer L, Srikanth S, Jain L, Cascio L, Jones K, Pauly R, May M, Skinner C, Buchanan C, DuPont BR, Kaufmann WE, Valentine K, Ward LD, Ivankovic D, Rogers RC, Phelan K, Sarasua SM, Boccuto L. Moffitt BA, et al. Clin Genet. 2023 Aug;104(2):198-209. doi: 10.1111/cge.14361. Epub 2023 May 18. Clin Genet. 2023. PMID: 37198960

Consensus recommendations on mental health issues in Phelan-McDermid syndrome.

van Balkom IDC, Burdeus-Olavarrieta M, Cooke J, de Cuba AG, Turner A; European Phelan-McDermid Syndrome consortium; Vogels A, Maruani A. van Balkom IDC, et al. Eur J Med Genet. 2023 Jun;66(6):104770. doi: 10.1016/j.ejmg.2023.104770. Epub 2023 Apr 20. Eur J Med Genet. 2023. PMID: 37085014 Free article.

Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome.

Schön M, Lapunzina P, Nevado J, Mattina T, Gunnarsson C, Hadzsiev K, Verpelli C, Bourgeron T, Jesse S, van Ravenswaaij-Arts CMA; European Phelan-McDermid syndrome consortium; Hennekam RC. Schön M, et al. Eur J Med Genet. 2023 Jul;66(7):104754. doi: 10.1016/j.ejmg.2023.104754. Epub 2023 Mar 31. Eur J Med Genet. 2023. PMID: 37003575 Free article.

Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome.

van Eeghen AM, Stemkens D, Fernández-Fructuoso JR, Maruani A, Hadzsiev K; ERN ITHACA Guideline Working Group; European Phelan-McDermid syndrome guideline consortium; van Balkom IDC. van Eeghen AM, et al. Eur J Med Genet. 2023 Jul;66(7):104747. doi: 10.1016/j.ejmg.2023.104747. Epub 2023 Mar 30. Eur J Med Genet. 2023. PMID: 37003574 Free article.

Head Size in Phelan-McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13.

Sarasua SM, DeLuca JM, Rogers C, Phelan K, Rennert L, Powder KE, Weisensee K, Boccuto L. Sarasua SM, et al. Genes (Basel). 2023 Feb 21;14(3):540. doi: 10.3390/genes14030540. Genes (Basel). 2023. PMID: 36980813 Free PMC article. Review.

Consensus recommendations on communication, language and speech in Phelan-McDermid syndrome.

Burdeus-Olavarrieta M, Nevado J, van Weering-Scholten S, Parker S; European Phelan-McDermid syndrome consortium; Swillen A. Burdeus-Olavarrieta M, et al. Eur J Med Genet. 2023 May;66(5):104745. doi: 10.1016/j.ejmg.2023.104745. Epub 2023 Mar 5. Eur J Med Genet. 2023. PMID: 36871884 Free article.

Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.

Vitrac A, Leblond CS, Rolland T, Cliquet F, Mathieu A, Maruani A, Delorme R, Schön M, Grabrucker AM, van Ravenswaaij-Arts C, Phelan K, Tabet AC, Bourgeron T. Vitrac A, et al. Eur J Med Genet. 2023 May;66(5):104732. doi: 10.1016/j.ejmg.2023.104732. Epub 2023 Feb 21. Eur J Med Genet. 2023. PMID: 36822569 Free article. Review.

CRISPR-Cas9 Editing Induces Loss of Heterozygosity in the Pathogenic Yeast Candida parapsilosis.

Lombardi L, Bergin SA, Ryan A, Zuniga-Soto E, Butler G. Lombardi L, et al. mSphere. 2022 Dec 21;7(6):e0039322. doi: 10.1128/msphere.00393-22. Epub 2022 Nov 23. mSphere. 2022. PMID: 36416551 Free PMC article.

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.

Rieger M, Moutton S, Verheyen S, Steindl K, Popp B, Leheup B, Bonnet C, Oneda B, Rauch A, Reis A, Krumbiegel M, Hüffmeier U. Rieger M, et al. Eur J Med Genet. 2023 Jan;66(1):104669. doi: 10.1016/j.ejmg.2022.104669. Epub 2022 Nov 12. Eur J Med Genet. 2023. PMID: 36379434

A case with cardiac, skeletal, speech, and motor traits narrows the subtelomeric 19p13.3 microdeletion region to 46 kb.

Peter B. Peter B. Am J Med Genet A. 2023 Jan;191(1):120-129. doi: 10.1002/ajmg.a.62998. Epub 2022 Oct 22. Am J Med Genet A. 2023. PMID: 36271830

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