PubMed for id: 356049

Year	Number of Results
2005	1
2008	1
2011	1
2012	1
2013	1
2016	4
2017	4
2018	1
2021	2
2022	1
2023	4

1

Plantar lipomatosis, unusual facies, and developmental delay: confirmation of Pierpont syndrome.

Oudesluijs GG, Hordijk R, Boon M, Sijens PE, Hennekam RC. Oudesluijs GG, et al. Am J Med Genet A. 2005 Aug 15;137(1):77-80. doi: 10.1002/ajmg.a.30863. Am J Med Genet A. 2005. PMID: 16007632 Review.

2

Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome.

Pereira-Nunes J, Vilan A, Grangeia A, d'Oliveira R. Pereira-Nunes J, et al. J Investig Med High Impact Case Rep. 2023 Jan-Dec;11:23247096221150637. doi: 10.1177/23247096221150637. J Investig Med High Impact Case Rep. 2023. PMID: 36691917 Free PMC article.

3

An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation.

Hu Y, Lauffer P, Stewart M, Codner G, Mayerl S, Heuer H, Ng L, Forrest D, van Trotsenburg P, Jongejan A, Fliers E, Hennekam R, Boelen A. Hu Y, et al. Hum Mol Genet. 2022 Aug 25;31(17):2951-2963. doi: 10.1093/hmg/ddac086. Hum Mol Genet. 2022. PMID: 35416977 Free PMC article.

4

Pierpont syndrome-Report of a new patient.

Ismaili-Jaha V, Spahiu-Konusha S, Jaha A. Ismaili-Jaha V, et al. Clin Case Rep. 2021 Feb 18;9(4):2113-2116. doi: 10.1002/ccr3.3959. eCollection 2021 Apr. Clin Case Rep. 2021. PMID: 33936649 Free PMC article.

5

TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation.

Lemattre C, Thevenon J, Duffourd Y, Nambot S, Haquet E, Vuadelle B, Genevieve D, Sarda P, Bruel AL, Kuentz P, Wells CF, Faivre L, Willems M. Lemattre C, et al. Am J Med Genet A. 2018 Dec;176(12):2813-2818. doi: 10.1002/ajmg.a.40510. Epub 2018 Oct 26. Am J Med Genet A. 2018. PMID: 30365874 Review.

6

Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.

Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M. Slavotinek A, et al. Eur J Med Genet. 2017 Oct;60(10):504-508. doi: 10.1016/j.ejmg.2017.07.003. Epub 2017 Jul 4. Eur J Med Genet. 2017. PMID: 28687524

7

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

8

Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report.

O'Keefe S, Wefuan DT, Humberson JB, Schmidt K, Wiley J. O'Keefe S, et al. J Med Case Rep. 2016 Aug 12;10(1):223. doi: 10.1186/s13256-016-0997-1. J Med Case Rep. 2016. PMID: 27520388 Free PMC article.

9

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.

10

Choroid plexus papilloma and Pierpont syndrome.

Vadivelu S, Edelman M, Schneider SJ, Mittler MA. Vadivelu S, et al. J Neurosurg Pediatr. 2013 Feb;11(2):115-8. doi: 10.3171/2012.10.PEDS12219. Epub 2012 Nov 23. J Neurosurg Pediatr. 2013. PMID: 23176139

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