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Items: 1 to 20 of 26

1.
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes
Quentin Hennocq, Thomas Bongibault, Sandrine Marlin, Jeanne Amiel, Tania Attie-Bitach, Geneviève Baujat, Lucile Boutaud, Georges Carpentier, Pierre Corre, Françoise Denoyelle, François Djate Delbrah, Maxime Douillet, Eva Galliani, Wuttichart Kamolvisit, Stanislas Lyonnet, Dan Milea, Véronique Pingault, Thantrira Porntaveetus, Sandrine Touzet-Roumazeille, Marjolaine Willems, Arnaud Picard, Marlène Rio, Nicolas Garcelon, Roman H. Khonsari
Front Pediatr. 2023; 11: 1171277. Published online 2023 Aug 17. doi: 10.3389/fped.2023.1171277
PMCID:
PMC10469912
ArticlePubReaderPDF–8.4MCite
2.
下颌骨颜面发育不全伴小头畸形1例及文献复习
李 晓雨, 洪 梦迪, 戴 朴, 袁 永一
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2022 Jan 3; 36(1): 36–40. Chinese. doi: 10.13201/j.issn.2096-7993.2022.01.008
PMCID:
PMC10128212
ArticlePubReaderPDF–4.4MCite
3.
A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report
Muhammad Kohailan, Omayma Al-Saei, Sujitha Padmajeya, Waleed Aamer, Najwa Elbashir, Ammira Al-Shabeeb Akil, Abdul-Rauf Kamboh, Khalid Fakhro
Cold Spring Harb Mol Case Stud. 2022 Jun; 8(4): a006206. doi: 10.1101/mcs.a006206
PMCID:
PMC9235844
ArticlePubReaderPDF–2.9MCite
4.
A novel de novo missense mutation in EFTUD2 identified by whole‐exome sequencing in mandibulofacial dysostosis with microcephaly
Mei Yang, Yanyan Liu, Ziyuan Lin, Huaqin Sun, Ting Hu
J Clin Lab Anal. 2022 May; 36(5): e24440. Published online 2022 Apr 18. doi: 10.1002/jcla.24440
PMCID:
PMC9102503
ArticlePubReaderPDF–2.0MCite
5.
Prenatal features of mandibulofacial dysostosis Guion-Almeida Type
Vlad Dragoi, Florina Nedelea, Nicolae Gica, Radu Botezatu, Gheorghe Peltecu, Anca Maria Panaitescu
J Med Life. 2021 Sep-Oct; 14(5): 722–725. doi: 10.25122/jml-2020-0082
PMCID:
PMC8742900
ArticlePubReaderPDF–476KCite
6.
Mandibulofacial dysostosis with microcephaly: an expansion of the phenotype via parental survey
Katherine Abell, Robert J Hopkin, Patricia L Bender, Farrah Jackson, Kelly Smallwood, Bonnie Sullivan, Rolf W Stottmann, Howard M Saal, K Nicole Weaver
Am J Med Genet A. Author manuscript; available in PMC 2021 Aug 21.
Published in final edited form as: Am J Med Genet A. 2021 Feb; 185(2): 413–423. Published online 2020 Nov 27. doi: 10.1002/ajmg.a.61977
PMCID:
PMC8379904
ArticlePubReaderPDF–473KCite
7.
A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report
Arthur Jacob, Jennifer Pasquier, Raphael Carapito, Frédéric Auradé, Anne Molitor, Philippe Froguel, Khalid Fakhro, Najeeb Halabi, Géraldine Viot, Seiamak Bahram, Arash Rafii
BMC Med Genet. 2020; 21: 182. Published online 2020 Sep 17. doi: 10.1186/s12881-020-01121-y
PMCID:
PMC7499997
ArticlePubReaderPDF–1.6MCite
8.
Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea
So Young Kim, Da-hye Lee, Jin Hee Han, Byung Yoon Choi
Diagnostics (Basel) 2020 May; 10(5): 296. Published online 2020 May 12. doi: 10.3390/diagnostics10050296
PMCID:
PMC7277841
ArticlePubReaderPDF–3.1MCite
9.
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
ArticlePubReaderPDF–266KCite
10.
Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse
Marie-Claude Beauchamp, Anissa Djedid, Kevin Daupin, Kayla Clokie, Shruti Kumar, Jacek Majewski, Loydie Anne Jerome-Majewska
PLoS One. 2019; 14(7): e0219280. Published online 2019 Jul 5. doi: 10.1371/journal.pone.0219280
PMCID:
PMC6611600
ArticlePubReaderPDF–1.5MCite
11.
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
ArticlePubReaderPDF–1.3MCite
12.
“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
ArticlePubReaderPDF–3.0MCite
13.
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
ArticlePubReaderPDF–883KCite
14.
Craniofacial Defects in Embryos with Homozygous Deletion of Eftud2 in Their Neural Crest Cells Are Not Rescued by Trp53 Deletion
Marie-Claude Beauchamp, Alexia Boucher, Yanchen Dong, Rachel Aber, Loydie A. Jerome-Majewska
Int J Mol Sci. 2022 Aug; 23(16): 9033. Published online 2022 Aug 12. doi: 10.3390/ijms23169033
PMCID:
PMC9409426
ArticlePubReaderPDF–4.4MCite
15.
Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53
Marie-Claude Beauchamp, Anissa Djedid, Eric Bareke, Fjodor Merkuri, Rachel Aber, Annie S Tam, Matthew A Lines, Kym M Boycott, Peter C Stirling, Jennifer L Fish, Jacek Majewski, Loydie A Jerome-Majewska
Hum Mol Genet. 2021 May 1; 30(9): 739–757. Published online 2021 Feb 18. doi: 10.1093/hmg/ddab051
PMCID:
PMC8161524
ArticlePubReaderPDF–2.0MCite
16.
Disease modeling of core pre-mRNA splicing factor haploinsufficiency
Katherine A Wood, Charlie F Rowlands, Wasay Mohiuddin Shaikh Qureshi, Huw B Thomas, Weronika A Buczek, Tracy A Briggs, Simon J Hubbard, Kathryn E Hentges, William G Newman, Raymond T O’Keefe
Hum Mol Genet. 2019 Nov 15; 28(22): 3704–3723. Published online 2019 Jul 13. doi: 10.1093/hmg/ddz169
PMCID:
PMC6935387
ArticlePubReaderPDF–124MCite
17.
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
ArticlePubReaderPDF–8.2MCite
18.
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
ArticlePubReaderPDF–5.6MCite
19.
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
ArticlePubReaderPDF–1.4MCite
20.
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
ArticlePubReaderPDF–1.7MCite

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