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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 1
1999 1
2000 1
2003 1
2006 1
2007 1
2009 2
2010 3
2011 2
2012 2
2013 2
2014 1
2015 3
2016 5
2017 5
2024 0

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PubMed (Bookshelf cited) for id: 208678

27 results

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Page 1
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.
Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, Study D, Rivière JB, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C, Thevenon J. Bruel AL, et al. J Med Genet. 2017 Dec;54(12):830-835. doi: 10.1136/jmedgenet-2017-104748. Epub 2017 Oct 26. J Med Genet. 2017. PMID: 29074562
Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.
Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, Berg JN, Chandler K, Metcalfe KA, Lam W, Pilz DT, Tomkins S. Balasubramanian M, et al. J Med Genet. 2017 Aug;54(8):537-543. doi: 10.1136/jmedgenet-2016-104360. Epub 2017 Jan 18. J Med Genet. 2017. PMID: 28100473 Free article. Review.
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, Faivre L, Rivière JB, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Lüdecke HJ, Wieczorek D. Kuechler A, et al. Eur J Hum Genet. 2017 Feb;25(2):183-191. doi: 10.1038/ejhg.2016.165. Epub 2016 Nov 30. Eur J Hum Genet. 2017. PMID: 27901041 Free PMC article.
Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.
Peña-Padilla C, Marshall CR, Walker S, Scherer SW, Tavares-Macías G, Razo-Jiménez G, Bobadilla-Morales L, Acosta-Fernández E, Corona-Rivera A, Mendoza-Londono R, Corona-Rivera JR. Peña-Padilla C, et al. Clin Genet. 2017 Apr;91(4):640-646. doi: 10.1111/cge.12924. Epub 2017 Feb 16. Clin Genet. 2017. PMID: 27874174
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.
Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network; Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F. Shashi V, et al. Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29. Am J Hum Genet. 2016. PMID: 27693232 Free PMC article.
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.
Angius A, Uva P, Buers I, Oppo M, Puddu A, Onano S, Persico I, Loi A, Marcia L, Höhne W, Cuccuru G, Fotia G, Deiana M, Marongiu M, Atalay HT, Inan S, El Assy O, Smit LM, Okur I, Boduroglu K, Utine GE, Kılıç E, Zampino G, Crisponi G, Crisponi L, Rutsch F. Angius A, et al. Am J Hum Genet. 2016 Jul 7;99(1):236-45. doi: 10.1016/j.ajhg.2016.05.026. Am J Hum Genet. 2016. PMID: 27392078 Free PMC article.
Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.
Parenti I, Gervasini C, Pozojevic J, Wendt KS, Watrin E, Azzollini J, Braunholz D, Buiting K, Cereda A, Engels H, Garavelli L, Glazar R, Graffmann B, Larizza L, Lüdecke HJ, Mariani M, Masciadri M, Pié J, Ramos FJ, Russo S, Selicorni A, Stefanova M, Strom TM, Werner R, Wierzba J, Zampino G, Gillessen-Kaesbach G, Wieczorek D, Kaiser FJ. Parenti I, et al. Clin Genet. 2016 May;89(5):564-73. doi: 10.1111/cge.12717. Epub 2016 Jan 25. Clin Genet. 2016. PMID: 26671848
Timing, rates and spectra of human germline mutation.
Rahbari R, Wuster A, Lindsay SJ, Hardwick RJ, Alexandrov LB, Turki SA, Dominiczak A, Morris A, Porteous D, Smith B, Stratton MR; UK10K Consortium; Hurles ME. Rahbari R, et al. Nat Genet. 2016 Feb;48(2):126-133. doi: 10.1038/ng.3469. Epub 2015 Dec 14. Nat Genet. 2016. PMID: 26656846 Free PMC article.
27 results