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ring chromosome 17 syndrome相关文献:
Ring 17 syndrome: first clinical report without intellectual disability.
de Palma L, De Carlo D, Lenzini E, Boniver C, Tarantino V, Bacci B, Vecchi M.
Epileptic Disord. 2015 Mar;17(1):84-7; quiz 88. doi: 10.1684/epd.2015.0726.
PMID:25635406
Ring chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome.
Ricard-Mousnier B, N'Guyen S, Dubas F, Pouplard F, Guichet A.
Epileptic Disord. 2007 Sep;9(3):327-31. doi: 10.1684/epd.2007.0121. Epub 2007 Sep 20.
PMID:17884758
Ring chromosome 17 syndrome with monosomy 17 mosaicism: case report and literature review.
Endo A, Uesato T, Minato M, Takada M, Takahashi S, Harada K.
Acta Paediatr. 1999 Sep;88(9):1040-3. doi: 10.1080/08035259950168595.
PMID:10519353
Miller-Dieker syndrome with ring chromosome 17.
Sharief N, Craze J, Summers D, Butler L, Wood CB.
Arch Dis Child. 1991 Jun;66(6):710-2. doi: 10.1136/adc.66.6.710.
PMID:1711306
Effect of Recombinant Human Growth Hormone Treatment in a Patient with Short Stature Associated with the Ring Chromosome 17 Syndrome.
Tempone Cardoso Penna G, de Rezende Lelot G, de Rezende Lelot AL, Greghi Hernandez J, Costa Figueiredo C, de Araujo Evangelista NM, Tonetto Fernandes VF, de Paula Colares Neto G.
Case Rep Pediatr. 2023 Sep 25;2023:6686511. doi: 10.1155/2023/6686511. eCollection 2023.
PMID:37790920
Telomere shortening and telomere position effect in mild ring 17 syndrome.
Surace C, Berardinelli F, Masotti A, Roberti MC, Da Sacco L, D'Elia G, Sirleto P, Digilio MC, Cusmai R, Grotta S, Petrocchi S, Hachem ME, Pisaneschi E, Ciocca L, Russo S, Lepri FR, Sgura A, Angioni A.
Epigenetics Chromatin. 2014 Jan 7;7(1):1. doi: 10.1186/1756-8935-7-1.
PMID:24393457
Ring chromosome 17. Case report and review of the literature.
Teyssier M, Charrin C, Corgiolu Theuil G, David L.
Ann Genet. 1992;35(2):75-8.
PMID:1381884
Real-world experience with cannabidiol as add-on treatment in drug-resistant epilepsy.
Vicino W, Muccioli L, Pondrelli F, Licchetta L, Stipa C, Mostacci B, Vito LD, Ferri L, Cancellerini C, Sold M, Tinuper P, Bisulli F.
Seizure. 2023 Oct;111:39-41. doi: 10.1016/j.seizure.2023.07.009. Epub 2023 Jul 17.
PMID:37506564
Ring chromosome 17: phenotype variation by deletion size.
Shashi V, White JR, Pettenati MJ, Root SK, Bell WL.
Clin Genet. 2003 Oct;64(4):361-5. doi: 10.1034/j.1399-0004.2003.00146.x.
PMID:12974742
A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17.
Havlovicova M, Novotna D, Kocarek E, Novotna K, Bendova S, Petrak B, Hrdlicka M, Sedlacek Z.
Am J Med Genet A. 2007 Jan 1;143A(1):76-81. doi: 10.1002/ajmg.a.31569.
PMID:17163520
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