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Items: 1 to 20 of 36

1.

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

Ji H, Li D, Wu Y, Zhang Q, Gu Q, Xie H, Ji T, Wang H, Zhao L, Zhao H, Yang Y, Feng H, Xiong H, Ji J, Yang Z, Kou L, Li M, Bao X, Chang X, Zhang Y, Li L, Li H, Niu Z, Wu X, Xiao J, Jiang Y, Wang J.

PLoS One. 2018 Feb 16;13(2):e0188869. doi: 10.1371/journal.pone.0188869. eCollection 2018.

2.

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
3.

Humoral deficiency in three paediatric patients with genetic diseases.

Calvo Campoverde K, Gean E, Piquer Gibert M, Martinez Valdez L, Deyà-Martínez A, Rojas Volquez M, Esteve-Sole A, Juan M, Plaza AM, Alsina L.

Allergol Immunopathol (Madr). 2016 May-Jun;44(3):257-62. doi: 10.1016/j.aller.2015.07.007. Epub 2016 Mar 2.

PMID:
26947896
4.

A CASE WITH 18q DELETION SYNDROME IDENTIFIED WITH B CELL ABSENCE AND CONGENITAL HEART DISEASE.

Güvenç O, Çimen D, Kaplan MB, Aslan E, Artaç H, Annagür A.

Genet Couns. 2015;26(4):451-5. No abstract available.

PMID:
26852518
5.

Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.

Arai-Ichinoi N, Uematsu M, Sato R, Suzuki T, Kudo H, Kikuchi A, Hino-Fukuyo N, Matsumoto M, Igarashi K, Haginoya K, Kure S.

Hum Genet. 2016 Jan;135(1):89-98. doi: 10.1007/s00439-015-1617-7. Epub 2015 Nov 23.

PMID:
26597493
6.

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. Review.

7.

Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories.

Tacik P, Sanchez-Contreras M, Rademakers R, Dickson DW, Wszolek ZK.

Neurodegener Dis. 2016;16(1-2):12-21. doi: 10.1159/000440840. Epub 2015 Nov 10. Review.

8.

Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype.

Rittinger O, Krabichler B, Kronberger G, Kotzot D.

Eur J Med Genet. 2015 Nov;58(11):603-7. doi: 10.1016/j.ejmg.2015.09.011. Epub 2015 Sep 28.

PMID:
26417856
9.

Del(18)(q12.2q21.1) syndrome: a case report and clinical review of the literature.

Imataka G, Ohwada Y, Shimura N, Yoshihara S, Arisaka O.

Eur Rev Med Pharmacol Sci. 2015 Sep;19(17):3241-5. Review.

10.

Skin manifestations of chromosome 18q deletion syndrome.

Torchia D, Schachner LA.

Int J Dermatol. 2015 Aug;54(8):985-6. doi: 10.1111/j.1365-4632.2011.05357.x. Epub 2015 Jun 29. No abstract available.

PMID:
26122027
11.

A Korean case of de novo 18q deletion syndrome with a large atrial septal defect and cyanosis.

Kim YJ, Park TS, Han MY, Yoon HS, Choi YS.

Ann Lab Med. 2015 Mar;35(2):272-4. doi: 10.3343/alm.2015.35.2.272. Epub 2015 Feb 12. No abstract available.

12.

Tocilizumab and adalimumab in an 18q deletion syndrome patient with chronic arthritis.

Kashima S, Tsuchida S, Koizumi H.

Clin Exp Rheumatol. 2015 Jan-Feb;33(1):130-1. Epub 2015 Feb 9. No abstract available.

PMID:
25665051
13.

Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency.

Hogendorf A, Lipska-Zietkiewicz BS, Szadkowska A, Borowiec M, Koczkowska M, Trzonkowski P, Drozdz I, Wyka K, Limon J, Mlynarski W.

Pediatr Diabetes. 2016 Mar;17(2):153-9. doi: 10.1111/pedi.12235. Epub 2014 Nov 18.

PMID:
25403779
14.

A pregnancy with discordant fetal and placental chromosome 18 aneuploidies revealed by invasive and noninvasive prenatal diagnosis.

Chen C, Cram DS, Xie F, Wang P, Xu X, Li H, Song Z, Chen D, Zhang J, Tang S.

Reprod Biomed Online. 2014 Jul;29(1):136-9. doi: 10.1016/j.rbmo.2014.03.017. Epub 2014 Apr 4. Erratum in: Reprod Biomed Online. 2017 Feb;34(2):211.

PMID:
24797099
15.

Features of two cases with 18q deletion syndrome.

Özsu E, Mutlu GY, Yüksel AB, Hatun Ş.

J Clin Res Pediatr Endocrinol. 2014;6(1):51-4. doi: 10.4274/Jcrpe.1183.

16.

Array-based comparative genomic hybridization in 190 Korean patients with developmental delay and/or intellectual disability: a single tertiary care university center study.

Lee CG, Park SJ, Yun JN, Ko JM, Kim HJ, Yim SY, Sohn YB.

Yonsei Med J. 2013 Nov;54(6):1463-70. doi: 10.3349/ymj.2013.54.6.1463.

17.

Mosaic chromosome 18q partial deletion syndrome with bilateral full-thickness corneal disease: surgical intervention and histopathology.

Galvin JA, LeBoyer RM, Michelotti M, Monte MA, Elner VM, Mian SI.

Ophthalmic Genet. 2015 Mar;36(1):75-8. doi: 10.3109/13816810.2013.833633. Epub 2013 Sep 11.

PMID:
24024746
18.

Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature.

van Trier DC, Feenstra I, Bot P, de Leeuw N, Draaisma JM.

Eur J Med Genet. 2013 Aug;56(8):426-31. doi: 10.1016/j.ejmg.2013.05.002. Epub 2013 May 22. Review.

PMID:
23707655
19.

Combined deletion 18q22.2 and duplication/triplication 18q22.1 causes microcephaly, mental retardation and leukencephalopathy.

Nguyen-Minh S, Drossel K, Horn D, Rost I, Spors B, Kaindl AM.

Gene. 2013 Jul 1;523(1):92-8. doi: 10.1016/j.gene.2013.03.078. Epub 2013 Apr 5.

PMID:
23566840
20.

Narrowing the critical region for congenital vertical talus in patients with interstitial 18q deletions.

Mark PR, Radlinski BC, Core N, Fryer A, Kirk EP, Haldeman-Englert CR.

Am J Med Genet A. 2013 May;161A(5):1117-21. doi: 10.1002/ajmg.a.35791. Epub 2013 Mar 13.

PMID:
23495172

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