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Items: 17

1.
Paterson‐Brown Kelly Syndrome (also commonly known as Plummer‐Vinson Syndrome)
Wilson Guo Wei Goh, Deborah Chieh Yih Ng, Jun Xuan Ng, Kheng Tian Lim
Clin Case Rep. 2020 Nov; 8(11): 2316–2317. Published online 2020 Jul 20. doi: 10.1002/ccr3.3127
PMCID:
PMC7669427
AbstractArticlePDF–332K
2.
Histological findings in the Paterson-Kelly syndrome
C. C. Entwistle, A. Jacobs
J Clin Pathol. 1965 Jul; 18(4): 408–413. doi: 10.1136/jcp.18.4.408
PMCID:
PMC472968
SummaryPage BrowsePDF–2.4M
3.
CtIP Mutations Cause Seckel and Jawad Syndromes
Per Qvist, Pablo Huertas, Sonia Jimeno, Mette Nyegaard, Muhammad J. Hassan, Stephen P. Jackson, Anders D. Børglum
PLoS Genet. 2011 Oct; 7(10): e1002310. Published online 2011 Oct 6. doi: 10.1371/journal.pgen.1002310
PMCID:
PMC3188555
AbstractArticlePDF–709K
4.
Epidermolysis bullosa of the oesophagus with oesophageal web formation
R. A. Marsden, F. J. Sambrook Gowar, A. F. MacDonald, R. A. Main
Thorax. 1974 May; 29(3): 287–295. doi: 10.1136/thx.29.3.287
PMCID:
PMC470148
SummaryPage BrowsePDF–2.3M
5.
Iron deficiency anemia and Plummer–Vinson syndrome: current insights
Amit Goel, Satvinder Singh Bakshi, Neetu Soni, Nanda Chhavi
J Blood Med. 2017; 8: 175–184. Published online 2017 Oct 19. doi: 10.2147/JBM.S127801
PMCID:
PMC5655134
AbstractArticlePDF–4.8M
6.
Plummer Vinson Syndrome: A Rare Syndrome in Male with Review of the Literature
Priyadarshini Karthikeyan, Nalini Aswath, Ramesh Kumaresan
Case Rep Dent. 2017; 2017: 6205925. Published online 2017 Aug 28. doi: 10.1155/2017/6205925
PMCID:
PMC5592419
AbstractArticlePDF–945K
7.
Spooning of the nails and webbing of the esophagus: koilonychia and Plummer–Vinson Syndrome
Ankit Mangla, Nikki Agarwal, Jie Yu, Margaret Telfer
Clin Case Rep. 2015 Dec; 3(12): 1054–1055. Published online 2015 Nov 3. doi: 10.1002/ccr3.419
PMCID:
PMC4693708
AbstractArticlePDF–345K
8.
The association between webs, iron and post-cricoid carcinoma
Morag Chisholm
Postgrad Med J. 1974 Apr; 50(582): 215–219. doi: 10.1136/pgmj.50.582.215
PMCID:
PMC2495558
SummaryPage BrowsePDF–1.2M
9.
Otolaryngological Aspects of Sjögren's Syndrome
J. A. Doig, K. Whaley, W. C. Dick, G. Nuki, J. Williamson, W. W. Buchanan
Br Med J. 1971 Nov 20; 4(5785): 460–463. doi: 10.1136/bmj.4.5785.460
PMCID:
PMC1799626
SummaryPage BrowsePDF–1.6M
10.
Plummer-Vinson syndrome
Gottfried Novacek
Orphanet J Rare Dis. 2006; 1: 36. Published online 2006 Sep 15. doi: 10.1186/1750-1172-1-36
PMCID:
PMC1586011
AbstractArticlePDF–233K
11.
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder
Reza Maroofian, Stephanie Efthymiou, Mohnish Suri, Fatima Rahman, Maha S Zaki, Shazia Maqbool, Najwa Anwa, Victor L Ruiz-Pérez, Shira Yanovsky-Dagan, Orly Elpeleg, Sniya Sudhakar, Kshitij Mankad, Tamar Harel, Henry Houlden
J Med Genet. 2023 Aug; 60(8): 791–796. Published online 2022 Dec 29. doi: 10.1136/jmg-2022-108566
PMCID:
PMC10423509
AbstractArticlePDF–739K
12.
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis
Hani Bagheri, Chansonette Badduke, Ying Qiao, Rita Colnaghi, Iga Abramowicz, Diana Alcantara, Christopher Dunham, Jiadi Wen, Robert S. Wildin, Malgorzata J.M. Nowaczyk, Jennifer Eichmeyer, Anna Lehman, Bruno Maranda, Sally Martell, Xianghong Shan, Suzanne M.E. Lewis, Mark O’Driscoll, Cheryl Y. Gregory-Evans, Evica Rajcan-Separovic
JCI Insight. 2016 Mar 17; 1(3): e85461. Published online 2016 Mar 17. doi: 10.1172/jci.insight.85461
PMCID:
PMC5033885
AbstractArticlePDF–4.8M
13.
Neurobehavioral Alterations in a Genetic Murine Model of Feingold Syndrome 2
E. Fiori, L. Babicola, D. Andolina, A. Coassin, T. Pascucci, L. Patella, Y.-C. Han, A. Ventura, R. Ventura
Behav Genet. Author manuscript; available in PMC 2016 Sep 1.
Published in final edited form as: Behav Genet. 2015 Sep; 45(5): 547–559. Published online 2015 May 31. doi: 10.1007/s10519-015-9724-8
PMCID:
PMC4561592
AbstractArticlePDF–1017K
14.
Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3
Aleksander Jamsheer, Anna Sowińska, Dorota Simon, Małgorzata Jamsheer-Bratkowska, Tomasz Trzeciak, Anna Latos-Bieleńska
BMC Med Genet. 2013; 14: 13. Published online 2013 Jan 24. doi: 10.1186/1471-2350-14-13
PMCID:
PMC3576294
AbstractArticlePDF–966K
15.
Germline deletion of the miR-17-92 cluster causes growth and skeletal defects in humans
Loïc de Pontual, Evelyn Yao, Patrick Callier, Laurence Faivre, Valérie Drouin, Sandra Cariou, Arie Van Haeringen, David Geneviève, Alice Goldenberg, Myriam Oufadem, Sylvie Manouvrier, Arnold Munnich, Joana Alves Vidigal, Michel Vekemans, Stanislas Lyonnet, Alexandra Henrion-Caude, Andrea Ventura, Jeanne Amiel
Nat Genet. Author manuscript; available in PMC 2012 Apr 1.
Published in final edited form as: Nat Genet. 2011 Oct; 43(10): 1026–1030. Published online 2011 Sep 4. doi: 10.1038/ng.915
PMCID:
PMC3184212
ArticlePDF–1.1M
16.
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15‐16.1
E Rajcan‐Separovic, C Harvard, X Liu, B McGillivray, J G Hall, Y Qiao, J Hurlburt, J Hildebrand, E C R Mickelson, J J A Holden, M E S Lewis
J Med Genet. 2007 Apr; 44(4): 269–276. Published online 2006 Sep 8. doi: 10.1136/jmg.2006.045013
PMCID:
PMC2598046
AbstractArticlePDF–1.5M
17.
The phenotype of ring chromosome 3.
G N Wilson, J Pooley, J Parker
J Med Genet. 1982 Dec; 19(6): 471–473. doi: 10.1136/jmg.19.6.471
PMCID:
PMC1048968
SummaryPage BrowsePDF–557K

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