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名词信息
中 文 名:
18号染色体长臂缺失综合征
英 文 名:
chromosome 18 long arm deletion syndrome
中文又称:
中文曾称:
名词来源:
所属专业:
皮肤科
所属类别:
疾病诊断名词
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Pubmed相关的文献
chromosome 18 long arm deletion syndrome
相关文献:
[The 18q-syndrome. Deletion of the long arm of chromosome nr. 18].
PMID:
[18 Q-syndrome. A new case of partial deletion of the long arm of chromosome 18].
PMID:
[The partial deletion of the long arm of chromosome 18 (syndrome 18Q-). Report of two cases].
PMID:
Prenatal diagnosis of chromosome 18 long arm deletion syndrome by high-throughput sequencing: Two case reports.
Bai X, Zheng L, Ma S, Kan X.
Medicine (Baltimore). 2021 Dec 17;100(50):e28143. doi: 10.1097/MD.0000000000028143.
PMID:34918667
Growth hormone treatment in a patient with deletion of the long arm of chromosome 18: An 8-year observation.
Jackowski T, Petriczko E, Horodnicka-Jozwa A, Biczysko-Mokosa A, Szalecki M, Walczak M.
Neuro Endocrinol Lett. 2019 Nov;40(4):169-174.
PMID:32087092
18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency.
Hashiguchi S, Tomomasa D, Nishikawa T, Ishikawa S, Akaike H, Kobae H, Shirai T, Nagao T, Noma K, Okada S, Kamuro K, Okamoto Y, Kanegane H.
J Clin Immunol. 2024 Jun 19;44(7):154. doi: 10.1007/s10875-024-01751-4.
PMID:38896123
Epilepsy and chromosome 18 abnormalities: A review.
Verrotti A, Carelli A, di Genova L, Striano P.
Seizure. 2015 Nov;32:78-83. doi: 10.1016/j.seizure.2015.09.013. Epub 2015 Sep 28.
PMID:26552569
Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report.
Ismail A, Ahid F, Thong MK, Zakaria Z.
J Med Case Rep. 2023 Jun 10;17(1):250. doi: 10.1186/s13256-023-03984-0.
PMID:37296475
The genotype and phenotype of chromosome 18p deletion syndrome: Case series.
Jin Q, Qiang R, Cai B, Wang X, Cai N, Zhen S, Zhai W.
Medicine (Baltimore). 2021 May 7;100(18):e25777. doi: 10.1097/MD.0000000000025777.
PMID:33950970
[Chromosome microarray analysis of patients with 18q deletion syndrome].
Feng J, Hao J, Chen Y, Li F, Han J, Li R, Zhang Y, Lei T, Chen F, Guo Q, Liao C, Wang H.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Apr;33(2):203-7. doi: 10.3760/cma.j.issn.1003-9406.2016.02.017.
PMID:27060316
Patchy white matter hyperintensity in ring chromosome 18 syndrome.
Anzai M, Arai-Ichinoi N, Takezawa Y, Endo W, Inui T, Sato R, Kikuchi A, Uematsu M, Kure S, Haginoya K.
Pediatr Int. 2016 Sep;58(9):919-22. doi: 10.1111/ped.13043. Epub 2016 Aug 31.
PMID:27577543
Collateral Lethality in Pancreatic Cancer.
[No authors listed]
Cancer Discov. 2017 Apr;7(4):342-343. doi: 10.1158/2159-8290.CD-NB2017-019. Epub 2017 Feb 7.
PMID:28174172
Molecular convergence of neurodevelopmental disorders.
Chen ES, Gigek CO, Rosenfeld JA, Diallo AB, Maussion G, Chen GG, Vaillancourt K, Lopez JP, Crapper L, Poujol R, Shaffer LG, Bourque G, Ernst C.
Am J Hum Genet. 2014 Nov 6;95(5):490-508. doi: 10.1016/j.ajhg.2014.09.013. Epub 2014 Oct 9.
PMID:25307298
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