U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 9

1.
Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome
Joana Pereira-Nunes, Ana Vilan, Ana Grangeia, Renata d’Oliveira
J Investig Med High Impact Case Rep. 2023 Jan-Dec; 11: 23247096221150637. Published online 2023 Jan 24. doi: 10.1177/23247096221150637
PMCID:
PMC9880567
ArticlePubReaderPDF–909KCite
2.
An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1Y446C/Y446C mutation
Yalan Hu, Peter Lauffer, Michelle Stewart, Gemma Codner, Steffen Mayerl, Heike Heuer, Lily Ng, Douglas Forrest, Paul van Trotsenburg, Aldo Jongejan, Eric Fliers, Raoul Hennekam, Anita Boelen
Hum Mol Genet. 2022 Sep 1; 31(17): 2951–2963. Published online 2022 Apr 13. doi: 10.1093/hmg/ddac086
PMCID:
PMC9433735
ArticlePubReaderPDF–1.1MCite
3.
Pierpont syndrome‐Report of a new patient
Vlora Ismaili–Jaha, Shqipe Spahiu‐Konusha, Art Jaha
Clin Case Rep. 2021 Apr; 9(4): 2113–2116. Published online 2021 Feb 18. doi: 10.1002/ccr3.3959
PMCID:
PMC8077337
ArticlePubReaderPDF–461KCite
4.
Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report
Siobhán O’Keefe, Dieter T. Wefuan, Jennifer B. Humberson, Karen Schmidt, John Wiley
J Med Case Rep. 2016; 10: 223. Published online 2016 Aug 12. doi: 10.1186/s13256-016-0997-1
PMCID:
PMC4982123
ArticlePubReaderPDF–731KCite
5.
A specific mutation in TBL1XR1 causes Pierpont syndrome
Charlotte A Heinen, Aldo Jongejan, Peter J Watson, Bert Redeker, Anita Boelen, Olga Boudzovitch-Surovtseva, Francesca Forzano, Roel Hordijk, Richard Kelley, Ann H Olney, Mary Ella Pierpont, G Bradley Schaefer, Fiona Stewart, A S Paul van Trotsenburg, Eric Fliers, John W R Schwabe, Raoul C Hennekam
J Med Genet. 2016 May; 53(5): 330–337. Published online 2016 Jan 14. doi: 10.1136/jmedgenet-2015-103233
Correction in:
J Med Genet. 2016 Jun; 53(6): 430.
PMCID:
PMC4853543
ArticlePubReaderPDF–2.8MCite
6.
Pierpont Syndrome: A Collaborative Study
Emma MM Burkitt Wright, Mohnish Suri, Susan M White, Nicole de Leeuw, Anneke T Vulto-van Silfhout, Fiona Stewart, Shane McKee, Sahar Mansour, Fiona C Connell, Maya Chopra, Edwin P Kirk, Koen Devriendt, Willie Reardon, Han Brunner, Dian Donnai
Am J Med Genet A. 2011 Sep; 155(9): 2203–2211. Published online 2011 Aug 10. doi: 10.1002/ajmg.a.34147
PMCID:
PMC4495254
ArticlePubReaderPDF–676KCite
7.
A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report
Xiao-Hui Wu, Shuang-Zhu Lin, Zhen-Xian Liu, Yang-Fan Qi, Wan-Qi Wang, Jia-Yi Li, Qian-Dui Chen, Lu-Lu Yang
Medicine (Baltimore) 2023 May 12; 102(19): e33744. Published online 2023 May 12. doi: 10.1097/MD.0000000000033744
PMCID:
PMC10174347
ArticlePubReaderPDF–1.5MCite
8.
The role of transducin β-like 1 X-linked receptor 1 (TBL1XR1) in thyroid hormone metabolism and action in mice
Yalan Hu, Kim Falize, A S Paul van Trotsenburg, Raoul Hennekam, Eric Fliers, Eveline Bruinstroop, Anita Boelen
Eur Thyroid J. 2023 Oct 1; 12(5): e230077. Prepublished online 2023 Jul 17. Published online 2023 Jul 17. doi: 10.1530/ETJ-23-0077
PMCID:
PMC10448563
ArticlePubReaderPDF–1.0MCite
9.
A randomized preference trial to inform personalization of a parent training program implemented in community mental health clinics
Yaliu He, Abigail Gewirtz, Susanne Lee, Nicole Morrell, Gerald August
Transl Behav Med. 2016 Mar; 6(1): 73–80. Published online 2015 Dec 3. doi: 10.1007/s13142-015-0366-4
PMCID:
PMC4807199
ArticlePubReaderPDF–333KCite

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center