PMC Links for Books (Select 3122466) - PMC

Select item 100819541.

Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier-Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew Warman, Andrea Superti-Furga

Am J Med Genet A. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Am J Med Genet A. 2023 May; 191(5): 1164–1209. Published online 2023 Feb 13. doi: 10.1002/ajmg.a.63132

PMCID:: PMC10081954

Abstract Article PDF–894K

Select item 68945062.

EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway

Jing Wu, Yi Yang, You He, Qiang Li, Xu Wang, Chengjun Sun, Lishun Wang, Yu An, Feihong Luo

Hum Genomics. 2019; 13: 63. Published online 2019 Dec 5. doi: 10.1186/s40246-019-0238-y

PMCID:: PMC6894506

Abstract Article PDF–8.2M

Select item 67005333.

Mandibulofacial dysostosis with microcephaly: a syndrome to remember

Joana Brandão Silva, Diana Soares, Miguel Leão, Helena Santos

BMJ Case Rep. 2019; 12(8): e229831. Published online 2019 Aug 13. doi: 10.1136/bcr-2019-229831

PMCID:: PMC6700533

Abstract Article PDF–266K

Select item 55125644.

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update

Lijia Huang, Megan R. Vanstone, Taila Hartley, Matthew Osmond, Nick Barrowman, Judith Allanson, Laura Baker, Tabib A. Dabir, Katrina M. Dipple, William B. Dobyns, Jane Estrella, Hanna Faghfoury, Francine P. Favaro, Himanshu Goel, Pernille A. Gregersen, Karen W. Gripp, Art Grix, Maria-Leine Guion-Almeida, Margaret H. Harr, Cindy Hudson, Alasdair G.W. Hunter, John Johnson, Shelagh K. Joss, Amy Kimball, Usha Kini, Antonie D. Kline, Julie Lauzon, Dorte L. Lildballe, Vanesa López-González, Johanna Martinezmoles, Cliff Meldrum, Ghayda M. Mirzaa, Chantal F. Morel, Jenny E.V. Morton, Louise C. Pyle, Fabiola Quintero-Rivera, Julie Richer, Angela E. Scheuerle, Bitten Schönewolf-Greulich, Deborah J. Shears, Josh Silver, Amanda C. Smith, I. Karen Temple, Clinical Genomics Center UCLA, Jiddeke M. van de Kamp, Fleur S. van Dijk, Anthony M. Vandersteen, Sue M. White, Elaine H. Zackai, Ruobing Zou, Care4Canada Consortium Rare, Dennis E. Bulman, Kym M. Boycott, Matthew A. Lines

Hum Mutat. Author manuscript; available in PMC 2017 Jul 17.

Published in final edited form as: Hum Mutat. 2016 Feb; 37(2): 148–154. Published online 2015 Nov 19. doi: 10.1002/humu.22924

PMCID:: PMC5512564

Abstract Article PDF–1.3M

Select item 54238095.

Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic

David Bick, Pamela C. Fraser, Michael F. Gutzeit, Jeremy M. Harris, Tina M. Hambuch, Daniel C. Helbling, Howard J. Jacob, Juliet N. Kersten, Steven R. Leuthner, Thomas May, Paula E. North, Sasha Z. Prisco, Bryce A. Schuler, Mary Shimoyama, Kimberly A. Strong, Scott K. Van Why, Regan Veith, James Verbsky, Arthur M. Weborg, Jr., Brandon M. Wilk, Rodney E. Willoughby, Jr., Elizabeth A. Worthey, David P. Dimmock

J Pediatr Genet. 2017 Jun; 6(2): 61–76. Published online 2016 Nov 28. doi: 10.1055/s-0036-1593968

PMCID:: PMC5423809

Abstract Article PDF–533K

Select item 53894676.

Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors

Lei Lei, Shou-Yu Yan, Ran Yang, Jia-Yu Chen, Yumei Li, Ye Bu, Nannan Chang, Qinchao Zhou, Xiaojun Zhu, Chuan-Yun Li, Jing-Wei Xiong

Nucleic Acids Res. 2017 Apr 7; 45(6): 3422–3436. Published online 2016 Nov 24. doi: 10.1093/nar/gkw1043

PMCID:: PMC5389467

Abstract Article PDF–5.6M

Select item 45447537.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 44877818.

EFTUD2 deficiency in vertebrates: identification of a novel human mutation and generation of a zebrafish model

Brett Deml, Linda M. Reis, Sanaa Muheisen, David Bick, Elena V. Semina

Birth Defects Res A Clin Mol Teratol. Author manuscript; available in PMC 2016 Jul 1.

Published in final edited form as: Birth Defects Res A Clin Mol Teratol. 2015 Jul; 103(7): 630–640. Published online 2015 Jun 27. doi: 10.1002/bdra.23397

PMCID:: PMC4487781

Abstract Article PDF–1.4M

Select item 37774149.

The EF-G-like GTPase Snu114p Regulates Spliceosome Dynamics Mediated by Brr2p, a DExD/H-box ATPase

Eliza C. Small, Stephanie R. Leggett, Adrienne A. Winans, Jonathan P. Staley

Mol Cell. Author manuscript; available in PMC 2013 Sep 19.

Published in final edited form as: Mol Cell. 2006 Aug 4; 23(3): 389–399. doi: 10.1016/j.molcel.2006.05.043

PMCID:: PMC3777414

Abstract Article PDF–1.2M

Select item 372799210.

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

Claudia Voigt, André Mégarbané, Kornelia Neveling, Johanna Christina Czeschik, Beate Albrecht, Bert Callewaert, Florian von Deimling, Andreas Hehr, Marie Falkenberg Smeland, Rainer König, Alma Kuechler, Carlo Marcelis, Maria Puiu, Willie Reardon, Hilde Monica Frostad Riise Stensland, Bernd Schweiger, Marloes Steehouwer, Christopher Teller, Marcel Martin, Sven Rahmann, Ute Hehr, Han G Brunner, Hermann-Josef Lüdecke, Dagmar Wieczorek

Orphanet J Rare Dis. 2013; 8: 110. Published online 2013 Jul 24. doi: 10.1186/1750-1172-8-110

PMCID:: PMC3727992

Abstract Article PDF–1.7M

Select item 353557811.

“Mandibulofacial Dysostosis with Microcephaly” Caused by EFTUD2 Mutations: Expanding the Phenotype

Daniela V Luquetti, Anne V Hing, Mark J Rieder, Deborah A Nickerson, Emily H Turner, Joshua Smith, Sarah Park, Michael L Cunningham

Am J Med Genet A. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Am J Med Genet A. 2013 Jan; 161(1): 108–113. Published online 2012 Dec 14. doi: 10.1002/ajmg.a.35696

PMCID:: PMC3535578

Abstract Article PDF–3.0M

Select item 337506412.

Clinical application of exome sequencing in undiagnosed genetic conditions

Anna C Need, Vandana Shashi, Yuki Hitomi, Kelly Schoch, Kevin V Shianna, Marie T McDonald, Miriam H Meisler, David B Goldstein

J Med Genet. 2012 Jun; 49(6): 353–361. Published online 2012 May 11. doi: 10.1136/jmedgenet-2012-100819

PMCID:: PMC3375064

Abstract Article PDF–221K

Select item 327667113.

Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly

Matthew A. Lines, Lijia Huang, Jeremy Schwartzentruber, Stuart L. Douglas, Danielle C. Lynch, Chandree Beaulieu, Maria Leine Guion-Almeida, Roseli Maria Zechi-Ceide, Blanca Gener, Gabriele Gillessen-Kaesbach, Caroline Nava, Geneviève Baujat, Denise Horn, Usha Kini, Almuth Caliebe, Yasemin Alanay, Gulen Eda Utine, Dorit Lev, Jürgen Kohlhase, Arthur W. Grix, Dietmar R. Lohmann, Ute Hehr, Detlef Böhm, FORGE Canada Consortium, Jacek Majewski, Dennis E. Bulman, Dagmar Wieczorek, Kym M. Boycott

Am J Hum Genet. 2012 Feb 10; 90(2): 369–377. doi: 10.1016/j.ajhg.2011.12.023

PMCID:: PMC3276671

Abstract Article PDF–883K

Select item 117003214.

An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2.

P Fabrizio, B Laggerbauer, J Lauber, W S Lane, R Lührmann

EMBO J. 1997 Jul 1; 16(13): 4092–4106. doi: 10.1093/emboj/16.13.4092

PMCID:: PMC1170032

Summary PDF–835K

Select item 108422515.

The ribosomal translocase homologue Snu114p is involved in unwinding U4/U6 RNA during activation of the spliceosome

Cornelia Bartels, Christine Klatt, Reinhard Lührmann, Patrizia Fabrizio^‡

EMBO Rep. 2002 Sep 16; 3(9): 875–880. doi: 10.1093/embo-reports/kvf172

PMCID:: PMC1084225

Abstract Article PDF–277K

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