PMC Articles for MedGen (Select 400232) - PMC

Result Filters

Links from MedGen

Items: 13

Select item 106185561.

Case report: ADULT syndrome: a rare case of congenital lacrimal duct abnormality

Jichao Zhou, Yuchen Wang, Yinghong Zhang, Debo You, Yi Wang

Front Genet. 2023; 14: 1150613. Published online 2023 Oct 18. doi: 10.3389/fgene.2023.1150613

PMCID:: PMC10618556

Abstract Article PDF–2.0M

Select item 75988092.

EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report

Yuki Otsuki, Koichi Ueda, Takashi Nuri, Chisei Satoh, Ryuta Maekawa, Koh-ichiro Yoshiura

Medicine (Baltimore) 2020 Oct 30; 99(44): e22816. Published online 2020 Oct 30. doi: 10.1097/MD.0000000000022816

PMCID:: PMC7598809

Abstract Article PDF–393K

Select item 52226733.

Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63

Yuki Otsuki, Koichi Ueda, Chisei Satoh, Ryuta Maekawa, Koh-ichiro Yoshiura, Sachiko Iseki

Plast Reconstr Surg Glob Open. 2016 Dec; 4(12): e1185. Published online 2016 Dec 22. doi: 10.1097/GOX.0000000000001185

PMCID:: PMC5222673

Abstract Article PDF–1.0M

Select item 44155594.

A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome

Leandro Ucela Alves, Eliete Pardono, Paulo A. Otto, Regina Célia Mingroni Netto

Genet Mol Biol. 2015 Mar; 38(1): 37–41. Published online 2014 Mar 17. doi: 10.1590/S1415-475738120140125

PMCID:: PMC4415559

Abstract Article PDF–1.3M

Select item 40495395.

Shaken Adult Syndrome: Report of 2 Cases

Amir A. Azari, Mozhgan R. Kanavi, Noah B. Saipe, Heather D. Potter, Daniel M. Albert, Michael A. Stier

JAMA Ophthalmol. Author manuscript; available in PMC 2014 Jun 9.

Published in final edited form as: JAMA Ophthalmol. 2013 Nov; 131(11): 1468–1470. doi: 10.1001/jamaophthalmol.2013.5073

PMCID:: PMC4049539

Abstract Article PDF–331K

Select item 17253306.

Domestic violence: the shaken adult syndrome

T Carrigan, E Walker, S Barnes

J Accid Emerg Med. 2000 Mar; 17(2): 138–139. doi: 10.1136/emj.17.2.138

PMCID:: PMC1725330

Summary PDF–94K

Select item 23964077.

Transcriptional activation of the tumor suppressor and differentiation gene S100A2 by a novel p63-binding site

Ralf D. Kirschner, Katja Sänger, Gerd A. Müller, Kurt Engeland

Nucleic Acids Res. 2008 May; 36(9): 2969–2980. Published online 2008 Apr 3. doi: 10.1093/nar/gkn132

PMCID:: PMC2396407

Abstract Article PDF–1.0M

Select item 17351508.

The p63 gene in EEC and other syndromes

H Brunner, B Hamel, H van Bokhoven

J Med Genet. 2002 Jun; 39(6): 377–381. doi: 10.1136/jmg.39.6.377

PMCID:: PMC1735150

Summary PDF–110K

Select item 68629089.

A rare presentation of neuralgic amyotrophy in a child and a review of recent literature

Marco Manfredi, Pierpacifico Gismondi, Silvia Iuliano, Valentina Maffini, Sonya Scivales, Giancarlo Gargano

J Int Med Res. 2019 Nov; 47(11): 5817–5823. Published online 2019 Sep 17. doi: 10.1177/0300060519868632

PMCID:: PMC6862908

Abstract Article PDF–343K

Select item 549895510.

ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature

Tânia Kawasaki de Araujo, Elaine Lustosa-Mendes, Ana P. dos Santos, Miriam Coelho Molck, Roberta Mazzariol Volpe-Aquino, Vera L. Gil-da-Silva-Lopes

Mol Syndromol. 2017 Jun; 8(4): 201–205. Published online 2017 Apr 13. doi: 10.1159/000470025

PMCID:: PMC5498955

Abstract Article PDF–314K

Select item 316060811.

Quantitation of brain edema and localisation of aquaporin 4 expression in relation to susceptibility to experimental cerebral malaria

Sumate Ampawong, Valéry Combes, Nicholas H Hunt, Jane Radford, Tailoi Chan-Ling, Emsri Pongponratn, Georges ER Grau

Int J Clin Exp Pathol. 2011 Aug 15; 4(6): 566–574. Published online 2011 Jul 23.

PMCID:: PMC3160608

Abstract Article PDF–1.9M

Select item 267678012.

Antisocial Behavioral Syndromes in Cocaine and Cannabis Dependence

John J. Mariani, Jonathan Horey, Adam Bisaga, Efrat Aharonovich, Wilfrid Raby, Wendy Y. Cheng, Edward Nunes, Frances R. Levin

Am J Drug Alcohol Abuse. Author manuscript; available in PMC 2009 May 4.

Published in final edited form as: Am J Drug Alcohol Abuse. 2008; 34(4): 405–414. doi: 10.1080/00952990802122473

PMCID:: PMC2676780

Abstract Article PDF–294K

Select item 330655213.

Functional Characterization of a Novel TP63 Mutation in a Family With Overlapping Features of Rapp-Hodgkin/AEC/ADULT Syndromes

Valeria Serra, Marco Castori, Mauro Paradisi, Laura Bui, Gerry Melino, Alessandro Terrinoni

Am J Med Genet A. 2011 Dec; 155(12): 3104–3109. Published online 2011 Nov 8. doi: 10.1002/ajmg.a.34335

PMCID:: PMC3306552

Abstract Article PDF–416K

Supplemental Content

Filter your results:

All (13)
NIH grants (2)
Embargoed (0)

Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

PMC Articles for MedGen (Select 400232) (13)
PMC

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

You are here: NCBI > Literature > PubMed Central (PMC)

Support Center

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to: