PMC Articles for MedGen (Select 1799326) - PMC

Select item 102374701.

Under-diagnosis of vector-borne diseases among individuals suspected of having Scrub Typhus in South Korea

Eun Jeong Won, Seong Hoon Kim, Kyeong Hwan Byeon, Chae-Hyeon Jeon, Seung-Ji Kang, Joo-Heon Park, Seung-Jung Kee, Hyun-Woo Choi

PLoS One. 2023; 18(6): e0286631. Published online 2023 Jun 2. doi: 10.1371/journal.pone.0286631

PMCID:: PMC10237470

Article PDF–1.1M

Select item 98043822.

A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV

Shabir Hussain, Shoaib Nawaz, Hammal Khan, Anushree Acharya, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal

Ann Hum Genet. 2022 Nov; 86(6): 291–296. Published online 2022 Aug 30. doi: 10.1111/ahg.12462

PMCID:: PMC9804382

Article PDF–622K

Select item 86229073.

Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family

Sandy Siegert, Gabriel T. Mindler, Christof Brücke, Andreas Kranzl, Janina Patsch, Markus Ritter, Andreas R. Janecke, Julia Vodopiutz

Genes (Basel) 2021 Nov; 12(11): 1648. Published online 2021 Oct 20. doi: 10.3390/genes12111648

PMCID:: PMC8622907

Article PDF–710K

Select item 57657604.

Autosomal Recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

Julien Thevenon, Laurence Duplomb, Shubha Phadke, Thibaut Eguether, Aline Saunier, Magali Avila, Virginie Carmignac, Ange-Line Bruel, Judith St-Onge, Yannis Duffourd, Gregory J. Pazour, Brunella Franco, Tania Attie-Bitach, Alice Masurel-Paulet, Jean-Baptiste Rivière, Valérie Cormier-Daire, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet

Clin Genet. Author manuscript; available in PMC 2018 Jan 12.

Published in final edited form as: Clin Genet. 2016 Dec; 90(6): 509–517. Published online 2016 Apr 29. doi: 10.1111/cge.12785

PMCID:: PMC5765760

Article PDF–906K

Select item 51179125.

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)

Glen R Monroe, Isabelle FPM Kappen, Marijn F Stokman, Paulien A Terhal, Marie-José H van den Boogaard, Sanne MC Savelberg, Lars T van der Veken, Robert JJ van Es, Susanne M Lens, Rutger C Hengeveld, Marijn A Creton, Nard G Janssen, Aebele B Mink van der Molen, Michelle B Ebbeling, Rachel H Giles, Nine V Knoers, Gijs van Haaften

Eur J Hum Genet. 2016 Dec; 24(12): 1752–1760. Published online 2016 Aug 17. doi: 10.1038/ejhg.2016.103

PMCID:: PMC5117912

Article PDF–1.7M

Select item 33762746.

Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations

Michael Field, Ingrid E Scheffer, Deepak Gill, Meredith Wilson, Louise Christie, Marie Shaw, Alison Gardner, Georgie Glubb, Lynne Hobson, Mark Corbett, Kathryn Friend, Saffron Willis-Owen, Jozef Gecz

Eur J Hum Genet. 2012 Jul; 20(7): 806–809. Published online 2012 Feb 22. doi: 10.1038/ejhg.2012.9

PMCID:: PMC3376274

Article PDF–355K

Select item 28410647.

Ofd1, a human disease gene, regulates the length and distal structure of centrioles

Veena Singla, Miriam Romaguera-Ros, Jose Manuel Garcia-Verdugo, Jeremy F. Reiter

Dev Cell. Author manuscript; available in PMC 2011 Mar 16.

Published in final edited form as: Dev Cell. 2010 Mar 16; 18(3): 410–424. doi: 10.1016/j.devcel.2009.12.022

PMCID:: PMC2841064

Article PDF–4.3M

Select item 26387778.

Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene

Maria I. Ferrante, Leila Romio, Silvia Castro, John E. Collins, David A. Goulding, Derek L. Stemple, Adrian S. Woolf, Stephen W. Wilson

Hum Mol Genet. 2009 Jan 15; 18(2): 289–303. Published online 2008 Oct 29. doi: 10.1093/hmg/ddn356

PMCID:: PMC2638777

Article PDF–1.2M

Select item 25645049.

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

C Thauvin‐Robinet, M Cossée, V Cormier‐Daire, L Van Maldergem, A Toutain, Y Alembik, E Bieth, V Layet, P Parent, A David, A Goldenberg, G Mortier, D Héron, P Sagot, A M Bouvier, F Huet, V Cusin, A Donzel, D Devys, J R Teyssier

J Med Genet. 2006 Jan; 43(1): 54–61. doi: 10.1136/jmg.2004.027672

PMCID:: PMC2564504

Article PDF–498K

Select item 204356610.

Functional Characterization of the OFD1 Protein Reveals a Nuclear Localization and Physical Interaction with Subunits of a Chromatin Remodeling Complex

Giovanna Giorgio, Mariaevelina Alfieri, Clelia Prattichizzo, Alessandro Zullo, Stefano Cairo, Brunella Franco

Mol Biol Cell. 2007 Nov; 18(11): 4397–4404. doi: 10.1091/mbc.E07-03-0198

PMCID:: PMC2043566

Article PDF–491K

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