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Select item 77772921.

De novo ZIC2 frameshift variant associated with frontonasal dysplasia in a Limousin calf

Marina Braun, Annika Lehmbecker, Deborah Eikelberg, Maren Hellige, Andreas Beineke, Julia Metzger, Ottmar Distl

BMC Genomics. 2021; 22: 1. Published online 2021 Jan 2. doi: 10.1186/s12864-020-07350-y

PMCID:: PMC7777292

Abstract Article PDF–4.0M

Select item 10136432.

Supernumerary small ring chromosome.

S Kaffe, H J Kim, L Y Hsu, C B Brill, K Hirschhorn

J Med Genet. 1977 Dec; 14(6): 447–451. doi: 10.1136/jmg.14.6.447

PMCID:: PMC1013643

Summary Page Browse PDF–1.7M

Select item 91025033.

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

Abstract Article PDF–2.0M

Select item 40835944.

The Transpalatal Approach to Repair of Congenital Basal Skull Base Cephaloceles

Stephen R. Hoff, Michael S. B. Edwards, C. Martin Bailey, Peter J. Koltai

J Neurol Surg B Skull Base. 2014 Apr; 75(2): 96–103. Published online 2014 Feb 10. doi: 10.1055/s-0033-1358374

PMCID:: PMC4083594

Abstract Article PDF–412K

Select item 42745725.

Recurrence rate of repaired hard palate oronasal fistula with conchal cartilage graft

Hosein Abdali, Mansour Hadilou, Awat Feizi, Mahmood Omranifard, Mehdi Rasti Ardakani, Abolhasan Emami

J Res Med Sci. 2014 Oct; 19(10): 956–960.

PMCID:: PMC4274572

Abstract Article PDF–1.6M

Select item 47036296.

Nucleotide Variants of the BH4 Biosynthesis Pathway Gene GCH1 and the Risk of Orofacial Clefts

Kamil K. Hozyasz, Adrianna Mostowska, Piotr Wójcicki, Agnieszka Lasota, Małgorzata Zadurska, Izabela Dunin-Wilczyńska, Paweł P. Jagodziński

Mol Neurobiol. 2016; 53(1): 769–776. Published online 2015 Jul 28. doi: 10.1007/s12035-015-9342-8

PMCID:: PMC4703629

Abstract Article PDF–450K

Select item 38993887.

Neural crest-specific deletion of Ldb1 leads to cleft secondary palate with impaired palatal shelf elevation

Asma Almaidhan, Jeffry Cesario, Andre Landin Malt, Yangu Zhao, Neeti Sharma, Veronica Choi, Juhee Jeong

BMC Dev Biol. 2014; 14: 3. Published online 2014 Jan 17. doi: 10.1186/1471-213X-14-3

PMCID:: PMC3899388

Abstract Article PDF–2.4M

Select item 39623468.

Association between MTHFR C677T and A1298C Polymorphisms and NSCL/P Risk in Asians: A Meta-Analysis

Mengmeng Zhao, Yangwu Ren, Li Shen, Yue Zhang, Baosen Zhou

PLoS One. 2014; 9(3): e88242. Published online 2014 Mar 21. doi: 10.1371/journal.pone.0088242

PMCID:: PMC3962346

Abstract Article PDF–734K

Select item 40560239.

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy

Eric J. Horstick, Jeremy W. Linsley, James J. Dowling, Michael A. Hauser, Kristin K. McDonald, Allison Ashley-Koch, Louis Saint-Amant, Akhila Satish, Wilson W. Cui, Weibin Zhou, Shawn M. Sprague, Demetra S. Stamm, Cynthia M. Powell, Marcy C. Speer, Clara Franzini-Armstrong, Hiromi Hirata, John Y. Kuwada

Nat Commun. Author manuscript; available in PMC 2014 Jun 13.

Published in final edited form as: Nat Commun. 2013; 4: 1952. doi: 10.1038/ncomms2952

PMCID:: PMC4056023

Abstract Article PDF–1.4M

Select item 406755110.

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Margaret J. McMillin, Anita E. Beck, Jessica X. Chong, Kathryn M. Shively, Kati J. Buckingham, Heidi I.S. Gildersleeve, Mariana I. Aracena, Arthur S. Aylsworth, Pierre Bitoun, John C. Carey, Carol L. Clericuzio, Yanick J. Crow, Cynthia J. Curry, Koenraad Devriendt, David B. Everman, Alan Fryer, Kate Gibson, Maria Luisa Giovannucci Uzielli, John M. Graham, Jr., Judith G. Hall, Jacqueline T. Hecht, Randall A. Heidenreich, Jane A. Hurst, Sarosh Irani, Ingrid P.C. Krapels, Jules G. Leroy, David Mowat, Gordon T. Plant, Stephen P. Robertson, Elizabeth K. Schorry, Richard H. Scott, Laurie H. Seaver, Elliott Sherr, Miranda Splitt, Helen Stewart, Constance Stumpel, Sehime G. Temel, David D. Weaver, Margo Whiteford, Marc S. Williams, Holly K. Tabor, Joshua D. Smith, Jay Shendure, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics, Michael J. Bamshad

Am J Hum Genet. 2014 May 1; 94(5): 734–744. doi: 10.1016/j.ajhg.2014.03.015

PMCID:: PMC4067551

Abstract Article PDF–957K

Select item 425996911.

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome

Dagmar Wieczorek, William G. Newman, Thomas Wieland, Tea Berulava, Maria Kaffe, Daniela Falkenstein, Christian Beetz, Elisabeth Graf, Thomas Schwarzmayr, Sofia Douzgou, Jill Clayton-Smith, Sarah B. Daly, Simon G. Williams, Sanjeev S. Bhaskar, Jill E. Urquhart, Beverley Anderson, James O’Sullivan, Odile Boute, Jasmin Gundlach, Johanna Christina Czeschik, Anthonie J. van Essen, Filiz Hazan, Sarah Park, Anne Hing, Alma Kuechler, Dietmar R. Lohmann, Kerstin U. Ludwig, Elisabeth Mangold, Laura Steenpaß, Michael Zeschnigk, Johannes R. Lemke, Charles Marques Lourenco, Ute Hehr, Eva-Christina Prott, Melanie Waldenberger, Anne C. Böhmer, Bernhard Horsthemke, Raymond T. O’Keefe, Thomas Meitinger, John Burn, Hermann-Josef Lüdecke, Tim M. Strom

Am J Hum Genet. 2014 Dec 4; 95(6): 698–707. doi: 10.1016/j.ajhg.2014.10.014

PMCID:: PMC4259969

Abstract Article PDF–1.3M

Select item 443815412.

Facial Characteristics and Olfactory Dysfunction: Two Endophenotypes Related to Nonsyndromic Cleft Lip and/or Palate

J. Roosenboom, I. Saey, H. Peeters, K. Devriendt, P. Claes, G. Hens

Biomed Res Int. 2015; 2015: 863429. Published online 2015 May 6. doi: 10.1155/2015/863429

PMCID:: PMC4438154

Abstract Article PDF–1.5M

Select item 450058313.

Molecular Anatomy of Palate Development

Andrew S. Potter, S. Steven Potter

PLoS One. 2015; 10(7): e0132662. Published online 2015 Jul 13. doi: 10.1371/journal.pone.0132662

PMCID:: PMC4500583

Abstract Article PDF–2.7M

Select item 454538614.

Exome Sequencing Identifies a Homozygous C5orf42 Variant in a Turkish Kindred With Oral-Facial-Digital Syndrome Type VI

Yavuz Bayram, Hatip Aydin, Tomasz Gambin, Zeynep Coban Akdemir, Mehmed M. Atik, Ender Karaca, Ali Karaman, Davut Pehlivan, Shalini N. Jhangiani, Richard A. Gibbs, James R. Lupski

Am J Med Genet A. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: Am J Med Genet A. 2015 Sep; 167(9): 2132–2137. Published online 2015 Apr 6. doi: 10.1002/ajmg.a.37092

PMCID:: PMC4545386

Abstract Article PDF–657K

Select item 1118989715.

Rare variants analyses suggest novel cleft genes in the African population

Azeez Alade, Peter Mossey, Waheed Awotoye, Tamara Busch, Abimbola M. Oladayo, Emmanuel Aladenika, Mojisola Olujitan, Emma Wentworth, Deepti Anand, Thirona Naicker, Lord J. J. Gowans, Mekonen A. Eshete, Wasiu L. Adeyemo, Erliang Zeng, Eric Van Otterloo, Michael O’Rorke, Adebowale Adeyemo, Jeffrey C. Murray, Justin Cotney, Salil A. Lachke, Paul Romitti, Azeez Butali

Sci Rep. 2024; 14: 14279. Published online 2024 Jun 20. doi: 10.1038/s41598-024-65151-9

PMCID:: PMC11189897

Abstract Article PDF–3.0M

Select item 470648516.

Prenatal Low Dosage Dioxin (TCDD) Exposure Impairs Cochlear Function Resulting in Auditory Neuropathy

Theresa M. Safe, Anne E. Luebke

Hear Res. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: Hear Res. 2016 Jan; 331: 7–12. Published online 2015 Oct 14. doi: 10.1016/j.heares.2015.09.015

PMCID:: PMC4706485

Abstract Article PDF–1.4M

Select item 487154717.

Investigating Oral Microbiome Profiles in Children with Cleft Lip and Palate for Prognosis of Alveolar Bone Grafting

Luwei Liu, Qian Zhang, Jiuxiang Lin, Lian Ma, Zhibo Zhou, Xuesong He, Yilin Jia, Feng Chen

PLoS One. 2016; 11(5): e0155683. Published online 2016 May 18. doi: 10.1371/journal.pone.0155683

PMCID:: PMC4871547

Abstract Article PDF–1.8M

Select item 491443518.

MEMO1 drives cranial endochondral ossification and palatogenesis

Eric Van Otterloo, Weiguo Feng, Kenneth L Jones, Nancy E Hynes, David E Clouthier, Lee Niswander, Trevor Williams

Dev Biol. Author manuscript; available in PMC 2017 Jul 15.

Published in final edited form as: Dev Biol. 2016 Jul 15; 415(2): 278–295. Published online 2015 Dec 31. doi: 10.1016/j.ydbio.2015.12.024

PMCID:: PMC4914435

Abstract Article PDF–2.9M

Select item 499665119.

An integrative transcriptomic atlas of organogenesis in human embryos

Dave T Gerrard, Andrew A Berry, Rachel E Jennings, Karen Piper Hanley, Nicoletta Bobola, Neil A Hanley

eLife. 2016; 5: e15657. Published online 2016 Aug 24. doi: 10.7554/eLife.15657

PMCID:: PMC4996651

Abstract Article PDF–2.9M

Select item 508609320.

Mutations in the HECT domain of NEDD4L lead to AKT/mTOR pathway deregulation and cause periventricular nodular heterotopia

Loïc Broix, Hélène Jagline, Ekaterina Ivanova, Stéphane Schmucker, Nathalie Drouot, Jill Clayton-Smith, Alistair T. Pagnamenta, Kay.A. Metcalfe, Bertrand Isidor, Ulrike Walther Louvier, Annapurna Poduri, Jenny C. Taylor, Peggy Tilly, Karine Poirier, Yoann Saillour, Nicolas Lebrun, Tristan Stemmelen, Gabrielle Rudolf, Giuseppe Muraca, Benjamin Saintpierre, Adrienne Elmorjani, The Deciphering Developmental Disorders study, Martin Moïse, Nathalie Bednarek Weirauch, Renzo Guerrini, Anne Boland, Robert Olaso, Cecile Masson, Ratna Tripathy, David Keays, Cherif Beldjord, Laurent Nguyen, Juliette Godin, Usha Kini, Patrick Nischké, Jean-François Deleuze, Nadia Bahi-Buisson, Izabela Sumara, Maria-Victoria Hinckelmann, Jamel Chelly

Nat Genet. Author manuscript; available in PMC 2017 Apr 3.

Published in final edited form as: Nat Genet. 2016 Nov; 48(11): 1349–1358. Published online 2016 Oct 3. doi: 10.1038/ng.3676

PMCID:: PMC5086093

Abstract Article PDF–2.6M

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