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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; 1993–2025.
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
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
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.
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
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 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
Mitochondrial Ca2+-coupled generation of reactive oxygen species, peroxynitrite formation, and endothelial dysfunction in Cantu syndrome.
Metwally E, Sanchez Solano A, Lavanderos B, Yamasaki E, Thakore P, McClenaghan C, Rios N, Radi R, Feng Earley Y, Nichols CG, Earley S.
JCI Insight. 2024 Aug 1;9(17):e176212. doi: 10.1172/jci.insight.176212.
PMID:39088268
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