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Select item 108763671.

Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study: Características clínicas e citogenéticas de uma amostra brasileira de pacientes com fenótipo de espectro óculo-aurículo-vertebral: um estudo transversal

Alessandra Pawelec da Silva, Rafael Fabiano Machado Rosa, Patrícia Trevisan, Juliana Cavalheiro Dorneles, Camila Saporiti Mesquita, Vinicius Freitas de Mattos, Giorgio Adriano Paskulin, Paulo Ricardo Gazzola Zen

Sao Paulo Med J. 2015; 133(3): 191–198. Published online 2014 Oct 17. doi: 10.1590/1516-3180.2013.7762204

PMCID:: PMC10876367

Article PDF–1.3M

Select item 107245052.

Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 gene

Yongli Zhang, Shaohua Bi, Liying Dai, Yuwei Zhao, Yu Liu, Zifeng Shi

Mol Genet Genomic Med. 2023 Dec; 11(12): e2268. Published online 2023 Aug 9. doi: 10.1002/mgg3.2268

PMCID:: PMC10724505

Article PDF–2.5M

Select item 98855253.

Damaging variants in FOXI3 cause microtia and craniofacial microsomia

Daniel Quiat, Andrew T. Timberlake, Justin J. Curran, Michael L. Cunningham, Barbara McDonough, Maria A. Artunduaga, Steven R. DePalma, Milagros M. Duenas-Roque, Joshua M. Gorham, Jonas A. Gustafson, Usama Hamdan, Anne V. Hing, Paula Hurtado-Villa, Yamileth Nicolau, Gabriel Osorno, Harry Pachajoa, Gloria L. Porras-Hurtado, Lourdes Quintanilla-Dieck, Luis Serrano, Melissa Tumblin, Ignacio Zarante, Daniela V. Luquetti, Roland D. Eavey, Carrie L. Heike, Jonathan G. Seidman, Christine E. Seidman

Genet Med. Author manuscript; available in PMC 2023 Jan 30.

Published in final edited form as: Genet Med. 2023 Jan; 25(1): 143–150. Published online 2022 Oct 19. doi: 10.1016/j.gim.2022.09.005

PMCID:: PMC9885525

Article PDF–1.0M

Select item 98201154.

Expanding the Etiology of Oculo–Auriculo–Vertebral Spectrum: A Novel Interstitial Microdeletion at 1p36

Mónica García-Castro, Teresa Martinez-Merino, Nuria Puente, José A. Riancho

Int J Mol Sci. 2023 Jan; 24(1): 36. Published online 2022 Dec 20. doi: 10.3390/ijms24010036

PMCID:: PMC9820115

Article PDF–1.0M

Select item 95538805.

Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome

Shannon Carter, Bridget J. Fellows, Kate Gibson, Louise S. Bicknell

Eur J Hum Genet. 2022 Oct; 30(10): 1178–1181. Published online 2022 Jul 25. doi: 10.1038/s41431-022-01154-2

PMCID:: PMC9553880

Article PDF–863K

Select item 88624636.

A new association of Oculoauriculovertebral spectrum and persistent fifth aortic arch -double lumen aorta: a case report

İsmail Balaban, Meltem Ceyhan Bilgici, Kemal Baysal

BMC Pediatr. 2022; 22: 102. Published online 2022 Feb 21. doi: 10.1186/s12887-022-03137-0

PMCID:: PMC8862463

Article PDF–1.5M

Select item 87833527.

A homozygous missense variant in laminin subunit beta 1 as candidate causal mutation of hemifacial microsomia in Romagnola cattle

Joana G. P. Jacinto, Irene M. Häfliger, Marco Bernardini, Maria Teresa Mandara, Ezio Bianchi, Marilena Bolcato, Noemi Romagnoli, Arcangelo Gentile, Cord Drögemüller

J Vet Intern Med. 2022 Jan-Feb; 36(1): 292–299. Published online 2021 Nov 19. doi: 10.1111/jvim.16316

PMCID:: PMC8783352

Article PDF–1.5M

Select item 83333518.

Haploinsufficiency of SF3B2 causes craniofacial microsomia

Andrew T. Timberlake, Casey Griffin, Carrie L. Heike, Anne V. Hing, Michael L. Cunningham, David Chitayat, Mark R. Davis, Soghra J. Doust, Amelia F. Drake, Milagros M. Duenas-Roque, Jack Goldblatt, Jonas A. Gustafson, Paula Hurtado-Villa, Alexis Johns, Natalya Karp, Nigel G. Laing, Leanne Magee, University of Washington Center for Mendelian Genomics, Sureni V. Mullegama, Harry Pachajoa, Gloria L. Porras-Hurtado, Rhonda E. Schnur, Jennie Slee, Steven L. Singer, David A. Staffenberg, Andrew E. Timms, Cheryl A. Wise, Ignacio Zarante, Jean-Pierre Saint-Jeannet, Daniela V. Luquetti

Nat Commun. 2021; 12: 4680. Published online 2021 Aug 3. doi: 10.1038/s41467-021-24852-9

PMCID:: PMC8333351

Article PDF–7.0M

Select item 78660609.

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

Valentina Guida, Luciano Calzari, Maria Teresa Fadda, Francesca Piceci-Sparascio, Maria Cristina Digilio, Laura Bernardini, Francesco Brancati, Teresa Mattina, Daniela Melis, Francesca Forzano, Silvana Briuglia, Tommaso Mazza, Sebastiano Bianca, Enza Maria Valente, Leila Bagherjad Salehi, Paolo Prontera, Mario Pagnoni, Romano Tenconi, Bruno Dallapiccola, Giorgio Iannetti, Luigi Corsaro, Alessandro De Luca, Davide Gentilini

Int J Mol Sci. 2021 Feb; 22(3): 1190. Published online 2021 Jan 26. doi: 10.3390/ijms22031190

PMCID:: PMC7866060

Article PDF–2.4M

Select item 754959410.

MYT1 role in the microtia‐craniofacial microsomia spectrum

Daniela V. Luquetti, Carrie L. Heike, Ignacio Zarante, Andrew E. Timms, Jonas Gustafson, Harry Pachajoa, Gloria L. Porras‐Hurtado, Paola Ayala‐Ramirez, Milagros M. Duenas‐Roque, Natalia Jimenez, Lina M. Ibanez, Paula Hurtado‐Villa

Mol Genet Genomic Med. 2020 Oct; 8(10): e1401. Published online 2020 Sep 1. doi: 10.1002/mgg3.1401

PMCID:: PMC7549594

Article PDF–391K

Select item 754957811.

Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

Angèle Tingaud‐Sequeira, Aurélien Trimouille, Sandrine Marlin, Estelle Lopez, Marie Berenguer, Souad Gherbi, Benoit Arveiler, Didier Lacombe, Caroline Rooryck

Mol Genet Genomic Med. 2020 Oct; 8(10): e1375. Published online 2020 Aug 1. doi: 10.1002/mgg3.1375

PMCID:: PMC7549578

Article PDF–956K

Select item 725159812.

Speech, Language, and Communication Skills of Adolescents With Craniofacial Microsomia

Brent R. Collett, Kathy Chapman, Erin R. Wallace, Sara L. Kinter, Carrie L. Heike, Matthew L. Speltz, Martha Werler

Am J Speech Lang Pathol. 2019 Nov; 28(4): 1571–1581. Published online 2019 Oct 3. doi: 10.1044/2019_AJSLP-19-0089

PMCID:: PMC7251598

Article PDF–153K

Select item 672062913.

Goldenhar syndrome associated with genital tract abnormality

Jennifer Christina Benjamin

BMJ Case Rep. 2019; 12(8): e230686. Published online 2019 Aug 28. doi: 10.1136/bcr-2019-230686

PMCID:: PMC6720629

Article PDF–1.2M

Select item 567475514.

Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation

Paulo Breno Noronha Liberalesso, Mara L. Cordeiro, Simone Carreiro Vieira Karuta, Karyn Regina Jordão Koladicz, Anderson Nitsche, Bianca Simone Zeigelboim, Salmo Raskin, Michael Rauchman

BMC Med Genet. 2017; 18: 125. Published online 2017 Nov 6. doi: 10.1186/s12881-017-0483-7

PMCID:: PMC5674755

Article PDF–602K

Select item 555816915.

A novel de novo mutation in MYT1, the unique OAVS gene identified so far

Marie Berenguer, Angele Tingaud-Sequeira, Mileny Colovati, Maria I Melaragno, Silvia Bragagnolo, Ana B A Perez, Benoit Arveiler, Didier Lacombe, Caroline Rooryck

Eur J Hum Genet. 2017 Sep; 25(9): 1083–1086. Published online 2017 Jun 14. doi: 10.1038/ejhg.2017.101

PMCID:: PMC5558169

Article PDF–569K

Select item 474811116.

Genome-wide association study identifies multiple susceptibility loci for craniofacial microsomia

Yong-Biao Zhang, Jintian Hu, Jiao Zhang, Xu Zhou, Xin Li, Chaohao Gu, Tun Liu, Yangchun Xie, Jiqiang Liu, Mingliang Gu, Panpan Wang, Tingting Wu, Jin Qian, Yue Wang, Xiaoqun Dong, Jun Yu, Qingguo Zhang

Nat Commun. 2016; 7: 10605. Published online 2016 Feb 8. doi: 10.1038/ncomms10605

PMCID:: PMC4748111

Article PDF–781K

Select item 443471017.

Neural crest cell-derived VEGF promotes embryonic jaw extension

Sophie Wiszniak, Francesca E. Mackenzie, Peter Anderson, Samuela Kabbara, Christiana Ruhrberg, Quenten Schwarz

Proc Natl Acad Sci U S A. 2015 May 12; 112(19): 6086–6091. Published online 2015 Apr 28. doi: 10.1073/pnas.1419368112

PMCID:: PMC4434710

Article PDF–1.3M

Select item 414347018.

The genetics of auricular development and malformation: new findings in model systems driving future directions for microtia research

Timothy C. Cox, Esra D. Camci, Siddharth Vora, Daniela V. Luquetti, Eric E. Turner

Eur J Med Genet. Author manuscript; available in PMC 2015 Aug 1.

Published in final edited form as: Eur J Med Genet. 2014 Aug; 57(8): 394–401. Published online 2014 May 29. doi: 10.1016/j.ejmg.2014.05.003

PMCID:: PMC4143470

Article PDF–462K

Select item 413850719.

Three Patients With Oculo-Auriculo-Vertebral Spectrum and Microdeletion 22q11.2

M. Cristina Digilio, Donna M. McDonald-McGinn, Carrie Heike, Charles Catania, Bruno Dallapiccola, Bruno Marino, Elaine H. Zackai

Am J Med Genet A. Author manuscript; available in PMC 2014 Aug 20.

Published in final edited form as: Am J Med Genet A. 2009 Dec; 0(12): 2860–2864. doi: 10.1002/ajmg.a.33034

PMCID:: PMC4138507

Article PDF–117K

Select item 401600820.

OTX2 Duplication Is Implicated in Hemifacial Microsomia

Dina Zielinski, Barak Markus, Mona Sheikh, Melissa Gymrek, Clement Chu, Marta Zaks, Balaji Srinivasan, Jodi D. Hoffman, Dror Aizenbud, Yaniv Erlich

PLoS One. 2014; 9(5): e96788. Published online 2014 May 9. doi: 10.1371/journal.pone.0096788

PMCID:: PMC4016008

Article PDF–685K

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