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Items: 13

1.
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
ArticlePDF–2.0M
2.
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
ArticlePDF–393K
3.
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
ArticlePDF–1.0M
4.
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
ArticlePDF–1.3M
5.
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
ArticlePDF–331K
6.
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
SummaryPDF–94K
7.
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
ArticlePDF–1.0M
8.
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
SummaryPDF–110K
9.
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
ArticlePDF–343K
10.
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
ArticlePDF–314K
11.
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
ArticlePDF–1.9M
12.
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
ArticlePDF–294K
13.
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
ArticlePDF–416K

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