U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 119

1.
Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report
Azli Ismail, Fadly Ahid, Meow-Keong Thong, Zubaidah Zakaria
J Med Case Rep. 2023; 17: 250. Published online 2023 Jun 10. doi: 10.1186/s13256-023-03984-0
PMCID:
PMC10257282
ArticlePDF–1.2M
2.
Case report: genetic analysis of a child with 18q deletion syndrome and developmental dysplasia of the hip
Shufeng Yu, Caixia Wang, Ke Lei, Xuefei Leng, Lijuan Zhang, Fei Tian, Zhihong Chen
BMC Med Genomics. 2022; 15: 199. Published online 2022 Sep 19. doi: 10.1186/s12920-022-01345-2
PMCID:
PMC9484224
ArticlePDF–1.5M
3.
Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review
Shanshan Liu, Meiping Chen, Hongbo Yang, Shi Chen, Linjie Wang, Lian Duan, Huijuan Zhu, Hui Pan
Front Endocrinol (Lausanne) 2021; 12: 776835. Published online 2021 Dec 9. doi: 10.3389/fendo.2021.776835
PMCID:
PMC8695685
ArticlePDF–2.8M
4.
Identification of a Rare Case With Nagashima-Type Palmoplantar Keratoderma and 18q Deletion Syndrome via Exome Sequencing and Low-Coverage Whole-Genome Sequencing
Qianqian Li, Xiaofan Zhu, Conghui Wang, Jingjing Meng, Duo Chen, Xiangdong Kong
Front Genet. 2021; 12: 707411. Published online 2021 Sep 20. doi: 10.3389/fgene.2021.707411
PMCID:
PMC8488357
ArticlePDF–2.4M
5.
Subcutaneous immunoglobulin replacement therapy in a patient with 18q deletion syndrome, primary immune deficiency, and type 1 diabetes
Anna Hogendorf, Agnieszka Szadkowska, Arkadiusz Michalak, Marta Surman, Karolina Trojan-Borczynska, Wojciech Młynarski, Szymon Janczar
Int J Immunopathol Pharmacol. 2021 Jan-Dec; 35: 20587384211039400. Published online 2021 Sep 12. doi: 10.1177/20587384211039400
PMCID:
PMC8442480
ArticlePDF–613K
6.
White matter changes associated with deletions of the long arm of chromosome 18 (18q- syndrome): a dysmyelinating disorder?
L A Loevner, R M Shapiro, R I Grossman, J Overhauser, J Kamholz
AJNR Am J Neuroradiol. 1996 Nov-Dec; 17(10): 1843-8.
PMCID:
PMC8337541
SummaryPDF–292K
7.
Unusual Endocrinopathies in 18q Deletion Syndrome: Pseudoparathyroidism and Hyper-/Hypo-Thyroidism
Anne Marie D. Kaulfers, Whei Ying Lim, Samar K. Bhowmick
AACE Clin Case Rep. 2021 May-Jun; 7(3): 192–194. Published online 2020 Dec 24. doi: 10.1016/j.aace.2020.12.012
PMCID:
PMC8165197
ArticlePDF–230K
8.
Case report of a novel phenotype in 18q deletion syndrome
Roxana Elena Bohîlţea, Monica Mihaela Cîrstoiu, Florina Mihaela Nedelea, Natalia Turcan, Tiberiu Augustin Georgescu, Octavian Munteanu, Alexandru Baroş, Anca-Maria Istrate-Ofiţeru, Costin Berceanu
Rom J Morphol Embryol. 2020 Jul-Sep; 61(3): 905–910. Published online 2021 Jan 20. doi: 10.47162/RJME.61.3.29
PMCID:
PMC8112787
ArticlePDF–1.7M
9.
Atrial septal defect can be easily missed in chromosome 18q deletion syndrome
Mouhamed Amr Sabouni, David Benedict, Md Saiful Alom, Stephen Petty, Keyoor Patel
Oxf Med Case Reports. 2018 Oct; 2018(10): omy076. Published online 2018 Sep 24. doi: 10.1093/omcr/omy076
PMCID:
PMC6151314
ArticlePDF–198K
10.
A Peruvian Child with 18p-/18q+ Syndrome and Persistent Microscopic Hematuria
Julio A. Poterico, Flor Vásquez, Miguel Chávez-Pastor, Milana Trubnykova, Félix Chavesta, Jenny Chirinos, Nancy Salcedo, Rosmery Mena, Sulema Cubas, Rocío González, Rossana Alvariño, Hugo Abarca-Barriga
J Pediatr Genet. 2017 Dec; 6(4): 258–266. Published online 2017 Jul 6. doi: 10.1055/s-0037-1604099
PMCID:
PMC5683951
ArticlePDF–513K
11.
A rare case of de novo mosaicism: Deletion 18p and isochromosome 18q syndrome
Achandira M. Udayakumar, Adila Al-Kindy
J Pediatr Genet. 2013 Sep; 2(3): 141–146. doi: 10.3233/PGE-13058
PMCID:
PMC5020969
SummaryPDF–430K
12.
Features of Two Cases with 18q Deletion Syndrome
Elif Özsu, Gül Yeşiltepe Mutlu, Ayşegül Büte Yüksel, Şükrü Hatun
J Clin Res Pediatr Endocrinol. 2014 Mar; 6(1): 51–54. Published online 2014 Mar 5. doi: 10.4274/Jcrpe.1183
PMCID:
PMC3986740
ArticlePDF–134K
13.
Chromosome 18q-Syndrome and 1p terminal duplication in a patient with bilateral vesico-ureteral reflux: case report and literature revision
Elisa Brandigi, Francesco Molinaro, Anna Lavinia Bulotta, Rossella Angotti, Maria Pavone, Mario Messina
Ital J Pediatr. 2013; 39: 6. Published online 2013 Jan 23. doi: 10.1186/1824-7288-39-6
PMCID:
PMC3599261
ArticlePDF–467K
14.
18q deletion syndrome – A case report
Magdalena BUDISTEANU, Aurora ARGHIR, Sorina Mihaela CHIRIEAC, Andreea TUTULAN-CUNITA, Agripina LUNGEANU
Maedica (Bucur) 2010 Apr; 5(2): 135–138.
PMCID:
PMC3150013
ArticlePDF–158K
15.
Chromosome 18q deletion and Smad4 protein inactivation correlate with liver metastasis: a study matched for T- and N- classification
T Tanaka, T Watanabe, Y Kazama, J Tanaka, T Kanazawa, S Kazama, H Nagawa
Br J Cancer. 2006 Dec 4; 95(11): 1562–1567. Published online 2006 Nov 7. doi: 10.1038/sj.bjc.6603460
PMCID:
PMC2360736
ArticlePDF–256K
16.
The 18q- syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2-q22.2.
G A Silverman, S S Schneider, H F Massa, A Flint, M Lalande, J C Leonard, J Overhauser, G van den Engh, B J Trask
Am J Hum Genet. 1995 Apr; 56(4): 926–937.
PMCID:
PMC1801205
SummaryPage BrowsePDF–2.4M
17.
Molecular analysis of the 18q- syndrome--and correlation with phenotype.
A D Kline, M E White, R Wapner, K Rojas, L G Biesecker, J Kamholz, E H Zackai, M Muenke, C I Scott, Jr, J Overhauser
Am J Hum Genet. 1993 May; 52(5): 895–906.
PMCID:
PMC1682039
SummaryPage BrowsePDF–2.0M
18.
Identification of cryptic rearrangements in patients with 18q- deletion syndrome.
Z Brkanac, J D Cody, R J Leach, B R DuPont
Am J Hum Genet. 1998 Jun; 62(6): 1500–1506. doi: 10.1086/301854
PMCID:
PMC1377133
Abstract
19.
A new deletion of 18q23 with few typical features of the 18q- syndrome.
M Kohonen-Corish, G Strathdee, J Overhauser, T McDonald, V Jammu
J Med Genet. 1996 Mar; 33(3): 240–243. doi: 10.1136/jmg.33.3.240
PMCID:
PMC1051877
SummaryPage BrowsePDF–979K
20.
Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.
C M Brewer, W W Lam, C Hayward, E Grace, E R Maher, D R FitzPatrick
J Med Genet. 1998 Feb; 35(2): 162–164. doi: 10.1136/jmg.35.2.162
PMCID:
PMC1051225
SummaryPage BrowsePDF–1.0M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center