PMC Articles for MedGen (Select 350933) - PMC

Select item 50257181.

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

S.R.F. Twigg, L.B. Ousager, K.A. Miller, Y. Zhou, S.C. Elalaoui, A. Sefiani, G.S Bak, H. Hove, L.K. Hansen, C.R. Fagerberg, M. Tajir, A.O.M. Wilkie

Clin Genet. 2016 Sep; 90(3): 270–275. Published online 2016 Feb 3. doi: 10.1111/cge.12721

PMCID:: PMC5025718

Abstract Article PDF–834K

Select item 41293992.

Exome Sequencing Identifies a Recurrent De Novo ZSWIM6 Mutation Associated with Acromelic Frontonasal Dysostosis

Joshua D. Smith, Anne V. Hing, Christine M. Clarke, Nathan M. Johnson, Francisco A. Perez, Sarah S. Park, Jeremy A. Horst, Brig Mecham, Lisa Maves, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Michael L. Cunningham

Am J Hum Genet. 2014 Aug 7; 95(2): 235–240. doi: 10.1016/j.ajhg.2014.07.008

PMCID:: PMC4129399

Abstract Article PDF–1.9M

Select item 79836693.

Prenatal Diagnosis of Acromelic Frontonasal Dysostosis

Cristina Martínez-Payo, Fe Amalia García-Santiago, Karen E. Heath, Eduardo Gavin, Elena Mansilla-Aparicio

Mol Syndromol. 2021 Mar; 12(1): 41–45. Published online 2020 Dec 15. doi: 10.1159/000512304

PMCID:: PMC7983669

Abstract Article PDF–654K

Select item 71455544.

Allele frequency net database (AFND) 2020 update: gold-standard data classification, open access genotype data and new query tools

Faviel F Gonzalez-Galarza, Antony McCabe, Eduardo J Melo dos Santos, James Jones, Louise Takeshita, Nestor D Ortega-Rivera, Glenda M Del Cid-Pavon, Kerry Ramsbottom, Gurpreet Ghattaoraya, Ana Alfirevic, Derek Middleton, Andrew R Jones

Nucleic Acids Res. 2020 Jan 8; 48(D1): D783–D788. Published online 2019 Nov 13. doi: 10.1093/nar/gkz1029

PMCID:: PMC7145554

Abstract Article PDF–1.6M

Select item 65819865.

Achiasma and Kapur-Toriello syndrome: Two rare entities

Grant A. Justin, Keith E. Earley, Justin G. Peacock, Aaron D. Grant

Am J Ophthalmol Case Rep. 2019 Sep; 15: 100488. Published online 2019 Jun 5. doi: 10.1016/j.ajoc.2019.100488

PMCID:: PMC6581986

Abstract Article PDF–705K

Select item 57030526.

Loss of the neurodevelopmental gene Zswim6 alters striatal morphology and motor regulation

David J. Tischfield, Dave K. Saraswat, Andrew Furash, Stephen C. Fowler, Marc V. Fuccillo, Stewart A. Anderson

Neurobiol Dis. Author manuscript; available in PMC 2018 Jul 1.

Published in final edited form as: Neurobiol Dis. 2017 Jul; 103: 174–183. Published online 2017 Apr 19. doi: 10.1016/j.nbd.2017.04.013

PMCID:: PMC5703052

Abstract Article PDF–1.7M

Select item 65378717.

Sequence-based HLA-A, B, C, DP, DQ, and DR typing of 496 adults from San Diego, California, USA

Eugene Moore, Alba Grifoni, Daniela Weiskopf, Veronique Schulten, Cecilia S. Lindestam Arlehamn, Michael Angelo, John Pham, Shay Leary, John Sidney, David Broide, April Frazier, Elizabeth Phillips, Simon Mallal, Steven J. Mack, Alessandro Sette

Hum Immunol. Author manuscript; available in PMC 2019 Dec 1.

Published in final edited form as: Hum Immunol. 2018 Dec; 79(12): 821–822. Published online 2018 Sep 29. doi: 10.1016/j.humimm.2018.09.008

PMCID:: PMC6537871

Abstract Article PDF–40K

Select item 58128908.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations

Elizabeth E. Palmer, Raman Kumar, Christopher T. Gordon, Marie Shaw, Laurence Hubert, Renee Carroll, Marlène Rio, Lucinda Murray, Melanie Leffler, Tracy Dudding-Byth, Myriam Oufadem, Seema R. Lalani, Andrea M. Lewis, Fan Xia, Allison Tam, Richard Webster, Susan Brammah, Francesca Filippini, John Pollard, Judy Spies, Andre E. Minoche, Mark J. Cowley, Sarah Risen, Nina N. Powell-Hamilton, Jessica E. Tusi, LaDonna Immken, Honey Nagakura, Christine Bole-Feysot, Patrick Nitschké, Alexandrine Garrigue, Geneviève de Saint Basile, Emma Kivuva, DDD Study, Richard H. Scott, Augusto Rendon, Arnold Munnich, William Newman, Bronwyn Kerr, Claude Besmond, Jill A. Rosenfeld, Jeanne Amiel, Michael Field, Jozef Gecz

Am J Hum Genet. 2017 Dec 7; 101(6): 995–1005. Published online 2017 Nov 30. doi: 10.1016/j.ajhg.2017.10.009

PMCID:: PMC5812890

Abstract Article PDF–1.3M

Select item 43839649.

Allele frequency net 2015 update: new features for HLA epitopes, KIR and disease and HLA adverse drug reaction associations

Faviel F. González-Galarza, Louise Y.C. Takeshita, Eduardo J.M. Santos, Felicity Kempson, Maria Helena Thomaz Maia, Andrea Luciana Soares da Silva, André Luiz Teles e Silva, Gurpreet S. Ghattaoraya, Ana Alfirevic, Andrew R. Jones, Derek Middleton

Nucleic Acids Res. 2015 Jan 28; 43(Database issue): D784–D788. Published online 2014 Nov 20. doi: 10.1093/nar/gku1166

PMCID:: PMC4383964

Abstract Article PDF–1.5M

Select item 362595710.

A database for curating the associations between killer cell immunoglobulin-like receptors and diseases in worldwide populations

Louise Y. C. Takeshita, Faviel F. Gonzalez-Galarza, Eduardo J. M. dos Santos, Maria Helena T. Maia, Mushome M. Rahman, Syed M. S. Zain, Derek Middleton, Andrew R. Jones

Database (Oxford) 2013; 2013: bat021. Published online 2013 Apr 12. doi: 10.1093/database/bat021

PMCID:: PMC3625957

Abstract Article PDF–669K

Select item 955029811.

In-silico study of influence of HLA heterogeneity on CTL responses across ethnicities to SARS-CoV-2

Vishal Rao, Nagasuma Chandra

Hum Immunol. 2022 Dec; 83(12): 797–802. Published online 2022 Oct 11. doi: 10.1016/j.humimm.2022.09.008

PMCID:: PMC9550298

Abstract Article PDF–1.7M

Select item 904814412.

AFND: Arabic fake news dataset for the detection and classification of articles credibility

Ashwaq Khalil, Moath Jarrah, Monther Aldwairi, Manar Jaradat

Data Brief. 2022 Jun; 42: 108141. Published online 2022 Apr 8. doi: 10.1016/j.dib.2022.108141

PMCID:: PMC9048144

Abstract Article PDF–1.0M

Select item 729538613.

A case of likely acute febrile neutrophilic dermatosis in a 17-year-old male presenting to general paediatrics

Arameh Aghababaie, Richard Patey

BMJ Case Rep. 2020; 13(6): e233309. Published online 2020 Jun 11. doi: 10.1136/bcr-2019-233309

PMCID:: PMC7295386

Abstract Article PDF–367K

Select item 694307214.

The 27th annual Nucleic Acids Research database issue and molecular biology database collection

Daniel J Rigden, Xosé M Fernández

Nucleic Acids Res. 2020 Jan 8; 48(D1): D1–D8. Published online 2019 Dec 22. doi: 10.1093/nar/gkz1161

PMCID:: PMC6943072

Abstract Article PDF–145K

Select item 619528215.

Antegrade versus retrograde facial nerve dissection in benign parotid surgery: Is there a difference in postoperative outcomes? A meta-analysis

Mubarak Ahmed Mashrah, Taghrid Ahmed Al-dhohrah, Fahmi Ahmed Al-zubeiry, Lingjian Yan, Faez Saleh Al-Hamed, Xiaopeng Zhao, Chaobin Pan

PLoS One. 2018; 13(10): e0206028. Published online 2018 Oct 19. doi: 10.1371/journal.pone.0206028

Correction in:: PLoS One. 2020; 15(11): e0242299.

PMCID:: PMC6195282

Abstract Article PDF–1.4M

Select item 564740016.

A web resource for mining HLA associations with adverse drug reactions: HLA-ADR

Gurpreet S. Ghattaoraya, Yenal Dundar, Faviel F. González-Galarza, Maria Helena Thomaz Maia, Eduardo José Melo Santos, Andréa Luciana Soares da Silva, Antony McCabe, Derek Middleton, Ana Alfirevic, Rumona Dickson, Andrew R. Jones

Database (Oxford) 2016; 2016: baw069. Published online 2016 May 17. doi: 10.1093/database/baw069

PMCID:: PMC5647400

Abstract Article PDF–898K

Select item 290187917.

Schiff base chemistry of the rhenium(V)-oxo core with ‘3+2’ ligand donor sets

Xiaoyuan Chen, Frank J. Femia, John W. Babich, Jon Zubieta

Inorganica Chim Acta. Author manuscript; available in PMC 2010 Jul 12.

Published in final edited form as: Inorganica Chim Acta. 2001 May; 316(1-2): 33–40. doi: 10.1016/S0020-1693(01)00387-5

PMCID:: PMC2901879

Abstract Article PDF–1.2M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 17

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity