PMC Articles for MedGen (Select 866808) - PMC

Select item 114681021.

Three-dimensional Analysis of Facial Asymmetry in Unilateral Lambdoid Craniosynostosis

Lucas M. Harrison, Eliza J. Ferrari, Denzil P. Mathew, Christopher A. Derderian, Rami R. Hallac

Cleft Palate Craniofac J. 2024 Oct; 61(10): 1619–1624. Published online 2023 May 17. doi: 10.1177/10556656231176876

PMCID:: PMC11468102

Abstract Article PDF–883K

Select item 110455462.

Spring-Assisted Surgery of Unilambdoid Craniosynostosis

Jonas Mellgren, Giovanni Maltese, Peter Tarnow, Madiha Bhatti-Søfteland, Lars Kölby, Karin Säljö

J Craniofac Surg. 2024 May; 35(3): 715–720. Published online 2024 Feb 14. doi: 10.1097/SCS.0000000000010035

PMCID:: PMC11045546

Abstract Article PDF–568K

Select item 109826353.

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis

Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart Loeys

J Med Genet. 2024 Apr; 61(4): 363–368. Published online 2024 Jan 30. doi: 10.1136/jmg-2023-109151

PMCID:: PMC10982635

Abstract Article PDF–828K

Select item 103595764.

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function

Rebecca S Tooze, Eduardo Calpena, Stephen R F Twigg, Felice D’Arco, The Genomics England Research Consortium, Emma L Wakeling, Andrew O M Wilkie

J Med Genet. 2023 Jul; 60(7): 712–716. Published online 2022 Dec 21. doi: 10.1136/jmg-2022-108946

PMCID:: PMC10359576

Abstract Article PDF–884K

Select item 102871305.

Frontofacial Features of Unilateral Lambdoid Craniosynostosis: A Multicenter Assessment

Jonathan Lee, Sanjay Naran, Daniel Mazzaferro, Ari Wes, Erin E. Anstadt, Jesse Taylor, Jesse Goldstein, Scott Bartlett, Joseph Losee

Plast Reconstr Surg Glob Open. 2023 May; 11(5): e5011. Published online 2023 May 19. doi: 10.1097/GOX.0000000000005011

PMCID:: PMC10287130

Abstract Article PDF–752K

Select item 94984346.

TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndrome and Sagittal Craniosynostosis

Moon Ley Tung, Bharatendu Chandra, Jaclyn Kotlarek, Marcelo Melo, Elizabeth Phillippi, Cristina M. Justice, Anthony Musolf, Simeon A. Boyadijev, Paul A. Romitti, Benjamin Darbro, Hatem El-Shanti

Genes (Basel) 2022 Sep; 13(9): 1649. Published online 2022 Sep 14. doi: 10.3390/genes13091649

PMCID:: PMC9498434

Abstract Article PDF–747K

Select item 60609807.

Novel 1q22-q23.1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation

Anna Sowińska-Seidler, Ewelina M. Olech, Magdalena Socha, Dawid Larysz, Aleksander Jamsheer

J Appl Genet. 2018; 59(3): 281–289. Published online 2018 May 29. doi: 10.1007/s13353-018-0447-4

Correction in:: J Appl Genet. 2018; 59(4): 525.

PMCID:: PMC6060980

Abstract Article PDF–2.1M

Select item 42314138.

Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations

Federico di Rocco, Geneviève Baujat, Eric Arnaud, Dominique Rénier, Jean-Louis Laplanche, Valérie Cormier Daire, Corinne Collet

Eur J Hum Genet. 2014 Dec; 22(12): 1413–1416. Published online 2014 Apr 16. doi: 10.1038/ejhg.2014.57

PMCID:: PMC4231413

Abstract Article PDF–1.1M

Select item 41337439.

Epilepsy in Muenke Syndrome: FGFR3-Related Craniosynostosis

Nneamaka B. Agochukwu, Benjamin D. Solomon, Andrea L. Gropman, Maximilian Muenke

Pediatr Neurol. Author manuscript; available in PMC 2014 Aug 15.

Published in final edited form as: Pediatr Neurol. 2012 Nov; 47(5): 355–361. doi: 10.1016/j.pediatrneurol.2012.07.004

PMCID:: PMC4133743

Abstract Article PDF–50K

Select item 364733310.

Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

Vikram P Sharma, Aimée L Fenwick, Mia S Brockop, Simon J McGowan, Jacqueline A C Goos, A Jeannette M Hoogeboom, Angela F Brady, N u Owase Jeelani, Sally Ann Lynch, John B Mulliken, Dylan J Murray, Julie M Phipps, Elizabeth Sweeney, Susan E Tomkins, Louise C Wilson, Sophia Bennett, Richard J Cornall, John Broxholme, Alexander Kanapin, WGS500, David Johnson, Steven A Wall, Peter J van der Spek, Irene M J Mathijssen, Robert E Maxson, Stephen R F Twigg, Andrew O M Wilkie

Nat Genet. Author manuscript; available in PMC 2013 Sep 1.

Published in final edited form as: Nat Genet. 2013 Mar; 45(3): 304–307. Published online 2013 Jan 27. doi: 10.1038/ng.2531

Correction in:: volume 45 on page 1261

PMCID:: PMC3647333

Abstract Article PDF–3.1M

Select item 358172011.

Talocalcaneal Coalition in Muenke Syndrome: Report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism

Nneamaka B. Agochukwu, Benjamin D. Solomon, Laurel J. Benson, Maximilian Muenke

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

Published in final edited form as: Am J Med Genet A. 2013 Mar; 161(3): 453–460. Published online 2013 Feb 1. doi: 10.1002/ajmg.a.35233

PMCID:: PMC3581720

Abstract Article PDF–226K

Select item 319752312.

Differential Expression of Extracellular Matrix-Mediated Pathways in Single-Suture Craniosynostosis

Brendan D. Stamper, Sarah S. Park, Richard P. Beyer, Theo K. Bammler, Frederico M. Farin, Brig Mecham, Michael L. Cunningham

PLoS One. 2011; 6(10): e26557. Published online 2011 Oct 19. doi: 10.1371/journal.pone.0026557

PMCID:: PMC3197523

Abstract Article PDF–699K

Select item 282994713.

Brain Phenotypes in Two FGFR2 Mouse Models for Apert Syndrome

Kristina Aldridge, Cheryl A. Hill, Jordan R. Austin, Christopher Percival, Neus Martinez-Abadias, Thomas Neuberger, Yingli Wang, Ethylin Wang Jabs, Joan T. Richtsmeier

Dev Dyn. Author manuscript; available in PMC 2010 Mar 1.

Published in final edited form as: Dev Dyn. 2010 Mar; 239(3): 987–997. doi: 10.1002/dvdy.22218

PMCID:: PMC2829947

Abstract Article PDF–1.5M

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