PMC Articles for MedGen (Select 330655) - PMC

Select item 108828921.

Goldenhar syndrome with limbal neoformation, microtia and skeletal deformities: a case report and literature review

Yushan Fu, Haotian Yu, Jiajia Zhang, Nan Zhou

BMC Ophthalmol. 2024; 24: 81. Published online 2024 Feb 22. doi: 10.1186/s12886-024-03317-9

PMCID:: PMC10882892

Abstract Article PDF–2.6M

Select item 98201152.

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

Abstract Article PDF–1.0M

Select item 87833523.

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

Abstract Article PDF–1.5M

Select item 79134254.

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome

Karina Forde, Nicoletta Resta, Carlotta Ranieri, David Rea, Olga Kubassova, Mark Hinton, Katrina A. Andrews, Robert Semple, Alan D. Irvine, Veronika Dvorakova

Orphanet J Rare Dis. 2021; 16: 109. Published online 2021 Feb 27. doi: 10.1186/s13023-021-01745-0

PMCID:: PMC7913425

Abstract Article PDF–1.0M

Select item 78660605.

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

Abstract Article PDF–2.4M

Select item 75495946.

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

Abstract Article PDF–391K

Select item 75495787.

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

Abstract Article PDF–956K

Select item 55581698.

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

Abstract Article PDF–569K

Select item 44347109.

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

Abstract Article PDF–1.3M

Select item 413850710.

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

Abstract Article PDF–117K

Select item 401600811.

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

Abstract Article PDF–685K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 11

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity