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Select item 35992611.

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

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Select item 23607362.

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

Article PubReader PDF–256K Cite

Select item 10512253.

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

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Select item 10501514.

18q-syndrome and extraskeletal Ewing's sarcoma.

M Machin Valtueña, J M Garcia-Sagredo, A Muñoz Villa, C Lozano Giménez, J M Aparicio Meix

J Med Genet. 1987 Jul; 24(7): 426–428. doi: 10.1136/jmg.24.7.426

PMCID:: PMC1050151

Summary Page Browse PDF–696K Cite

Select item 10137385.

47,XX,+der(18),t(9;18)(p24;q21) mat: a distinct partial trisomy 18q--syndrome?

H N Bass, F Weber-Parisi, R S Sparkes

J Med Genet. 1978 Oct; 15(5): 391–395. doi: 10.1136/jmg.15.5.391

PMCID:: PMC1013738

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Select item 86956856.

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

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Select item 86378657.

Immune Dysregulation in Patients With Chromosome 18q Deletions—Searching for Putative Loci for Autoimmunity and Immunodeficiency

Anna Hogendorf, Maciej Zieliński, Maria Constantinou, Robert Śmigiel, Jolanta Wierzba, Krystyna Wyka, Anna Wędrychowicz, Anna Jakubiuk-Tomaszuk, Edyta Budzynska, Malgorzata Piotrowicz, Beata S. Lipska-Ziętkiewicz, Ewa Kaczorowska, Agata Cieślikowska, Anna Kutkowska-Kaźmierczak, Jolanta Fijak-Moskal, Monika Kugaudo, Małgorzata Kosińska-Urbańska, Agnieszka Szadkowska, Maciej Borowiec, Maciej Niedźwiecki, Piotr Trzonkowski, Wojciech Młynarski

Front Immunol. 2021; 12: 742834. Published online 2021 Nov 17. doi: 10.3389/fimmu.2021.742834

PMCID:: PMC8637865

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Select item 71964888.

18q12.3‐q21.1 microdeletion detected in the prenatally alcohol‐exposed dizygotic twin with discordant fetal alcohol syndrome phenotype

Hanna Kahila, Heidi Marjonen, Pauliina Auvinen, Kristiina Avela, Raili Riikonen, Nina Kaminen‐Ahola

Mol Genet Genomic Med. 2020 Apr; 8(4): e1192. Published online 2020 Feb 25. doi: 10.1002/mgg3.1192

PMCID:: PMC7196488

Article PubReader PDF–857K Cite

Select item 67322879.

Clinical delineation of 18q11‐q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects

Kitiwan Rojnueangnit, Chariyawan Charalsawadi, Weerin Thammachote, Ariya Pradabmuksiri, Thipwimol Tim‐Aroon, Antonio Novelli, Sara Loddo, Silvana Briuglia, Cutrupi M. Concetta, Duangrurdee Wattanasirichaigoon, Natini Jinawath

Mol Genet Genomic Med. 2019 Sep; 7(9): e896. Published online 2019 Aug 7. doi: 10.1002/mgg3.896

PMCID:: PMC6732287

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Select item 581557410.

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

Haoran Ji, Dongxiao Li, Ye Wu, Quanli Zhang, Qiang Gu, Han Xie, Taoyun Ji, Huifang Wang, Lu Zhao, Haijuan Zhao, Yanling Yang, Hongchun Feng, Hui Xiong, Jinhua Ji, Zhixian Yang, Liping Kou, Ming Li, Xinhua Bao, Xingzhi Chang, Yuehua Zhang, Li Li, Huijuan Li, Zhengping Niu, Xiru Wu, Jiangxi Xiao, Yuwu Jiang, Jingmin Wang

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

PMCID:: PMC5815574

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Select item 105007911.

Asymmetry and skin pigmentary anomalies in chromosome mosaicism.

C G Woods, A Bankier, J Curry, L J Sheffield, S F Slaney, K Smith, L Voullaire, D Wellesley

J Med Genet. 1994 Sep; 31(9): 694–701. doi: 10.1136/jmg.31.9.694

PMCID:: PMC1050079

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Select item 101344212.

Partial monosomy and partial trisomy 18 in two offspring of carrier of pericentric inversion of chromosome 18.

A M Vianna-Morgante, M J Nozaki, C C Ortega, V Coates, Y Yamamura

J Med Genet. 1976 Oct; 13(5): 366–370. doi: 10.1136/jmg.13.5.366

PMCID:: PMC1013442

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Select item 398674013.

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

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Select item 321581414.

The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions

Minire Hasi, Bridgette Soileau, Courtney Sebold, Annice Hill, Daniel E. Hale, Louise O’Donnell, Jannine D. Cody

Hum Genet. Author manuscript; available in PMC 2012 Dec 1.

Published in final edited form as: Hum Genet. 2011 Dec; 130(6): 777–787. Published online 2011 Jun 14. doi: 10.1007/s00439-011-1020-y

PMCID:: PMC3215814

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Select item 191841515.

Molecular mapping of the Edwards syndrome phenotype to two noncontiguous regions on chromosome 18.

L. Boghosian-Sell, R. Mewar, W. Harrison, R. M. Shapiro, E. H. Zackai, J. Carey, L. Davis-Keppen, L. Hudgins, J. Overhauser

Am J Hum Genet. 1994 Sep; 55(3): 476–483.

PMCID:: PMC1918415

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Select item 191819516.

Interstitial deletions are not the main mechanism leading to 18q deletions.

G. Strathdee, W. Harrison, H. C. Riethman, S. A. Goodart, J. Overhauser

Am J Hum Genet. 1994 Jun; 54(6): 1085–1091.

PMCID:: PMC1918195

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Select item 188592117.

Selective IgA deficiency with 18q+ and 18q-- karyotypic anomalies.

R M Lewkonia, C C Lin, R H Haslam

J Med Genet. 1980 Dec; 17(6): 453–456. doi: 10.1136/jmg.17.6.453

PMCID:: PMC1885921

Summary Page Browse PDF–629K Cite

Select item 171246518.

Molecular characterization of patients with 18q23 deletions.

G Strathdee, R Sutherland, J J Jonsson, R Sataloff, M Kohonen-Corish, D Grady, J Overhauser

Am J Hum Genet. 1997 Apr; 60(4): 860–868.

PMCID:: PMC1712465

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Select item 168249319.

Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18.

R Mewar, A D Kline, W Harrison, K Rojas, F Greenberg, J Overhauser

Am J Hum Genet. 1993 Dec; 53(6): 1269–1278.

PMCID:: PMC1682493

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Select item 168203920.

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

Summary Page Browse PDF–2.0M Cite

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