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

Year Number of Results
1995 1
1998 1
2000 1
2002 1
2003 1
2004 1
2005 1
2008 1
2009 1
2011 1
2012 2
2014 3
2015 1
2016 2
2017 1
2018 1
2022 1
2024 0

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PubMed (OMIM) for id: 79718

20 results

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Page 1
Pierpont syndrome due to mutation c.1337A>G in TBL1XR1 gene.
Tesarova M, Baxova A, Hansikova H, Lambert L, Vondrackova A, Leiska A, Zeman J. Tesarova M, et al. Clin Dysmorphol. 2022 Jul 1;31(3):145-148. doi: 10.1097/MCD.0000000000000416. Epub 2022 Feb 14. Clin Dysmorphol. 2022. PMID: 35165208 No abstract available.
Pierpont syndrome: report of a new patient.
Kahlert AK, Weidensee S, Mackenroth L, Porrmann J, Rump A, Di Donato N, Schröck E, Tzschach A. Kahlert AK, et al. Clin Dysmorphol. 2017 Oct;26(4):205-208. doi: 10.1097/MCD.0000000000000184. Clin Dysmorphol. 2017. PMID: 28562391
A specific mutation in TBL1XR1 causes Pierpont syndrome.
Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg AS, Fliers E, Schwabe JW, Hennekam RC. Heinen CA, et al. J Med Genet. 2016 May;53(5):330-7. doi: 10.1136/jmedgenet-2015-103233. Epub 2016 Jan 14. J Med Genet. 2016. PMID: 26769062 Free PMC article.
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J. O'Roak BJ, et al. Science. 2012 Dec 21;338(6114):1619-22. doi: 10.1126/science.1227764. Epub 2012 Nov 15. Science. 2012. PMID: 23160955 Free PMC article.
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE. O'Roak BJ, et al. Nature. 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989. Nature. 2012. PMID: 22495309 Free PMC article.
20 results