首页 > 按专业查询名词 > 查询PubMed相关文献
名词信息
Pubmed相关的文献
Cantu syndrome相关文献:
Cantu Syndrome.
Grange DK, Nichols CG, Singh GK.
2014 Oct 2 [updated 2020 Oct 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID:25275207
Kir6.1 and SUR2B in Cantu syndrome.
McClenaghan C, Nichols CG.
Am J Physiol Cell Physiol. 2022 Sep 1;323(3):C920-C935. doi: 10.1152/ajpcell.00154.2022. Epub 2022 Jul 25.
PMID:35876283
Cantu syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature.
Apuril Velgara ES, Mariani M, Torella A, Musacchia F; Telethon Undiagnosed Diseases Program (TUDP) consortium; Nigro V, Selicorni A.
Am J Med Genet A. 2022 Jun;188(6):1661-1666. doi: 10.1002/ajmg.a.62710. Epub 2022 Mar 3.
PMID:35243770
Cantu syndrome and hypopituitarism: implications for endocrine monitoring.
Theis NJ, Calvert T, McIntyre P, Robertson SP, Wheeler BJ.
Endocrinol Diabetes Metab Case Rep. 2019 Nov 12;2019:19-0103. doi: 10.1530/EDM-19-0103. Online ahead of print.
PMID:31743099
Three-dimensional facial morphology in Cantu syndrome.
Roessler HI, Shields K, Grange DK, Knoers NVAM, van Haaften G, Hammond P, van Haelst MM.
Am J Med Genet A. 2020 May;182(5):1041-1052. doi: 10.1002/ajmg.a.61517. Epub 2020 Feb 26.
PMID:32100467
Cantu Syndrome Associated with Ovarian Agenesis.
Fryssira H, Psoni S, Amenta S, Tsoutsou E, Sofocleous C, Manolakos E, Gavra M, Lüdecke HJ, Czeschik JC.
Mol Syndromol. 2017 Jun;8(4):206-210. doi: 10.1159/000471247. Epub 2017 May 10.
PMID:28690487
Multiple vascular anomalies and refractory pericardial effusion in a young patient with Cantu syndrome: a case report and review of the literature.
Daas F, Gupta P, Kiblawi F.
BMC Pediatr. 2023 Dec 19;23(1):644. doi: 10.1186/s12887-023-04446-8.
PMID:38114927
Cantu syndrome.
Herman TE, McAlister WH.
Pediatr Radiol. 2005 May;35(5):550-1. doi: 10.1007/s00247-004-1386-2. Epub 2005 Feb 27.
PMID:15735970
Cantu syndrome and lymphoedema.
García-Cruz D, Mampel A, Echeverria MI, Vargas AL, Castañeda-Cisneros G, Davalos-Rodriguez N, Patiño-Garcia B, Garcia-Cruz MO, Castañeda V, Cardona EG, Marin-Solis B, Cantu JM, Nuñez-Reveles N, Moran-Moguel C, Thavanati PKR, Ramirez-Garcia S, Sanchez-Corona J.
Clin Dysmorphol. 2011 Jan;20(1):32-37. doi: 10.1097/MCD.0b013e32833d015c.
PMID:20890180
A Cantu syndrome mutation produces dual effects on KATP channels by disrupting ankyrin B regulation.
Crespo-García T, Rubio-Alarcón M, Cámara-Checa A, Dago M, Rapún J, Nieto-Marín P, Marín M, Cebrián J, Tamargo J, Delpón E, Caballero R.
J Gen Physiol. 2023 Jan 2;155(1):e202112995. doi: 10.1085/jgp.202112995. Epub 2022 Oct 26.
PMID:36287534
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3