PMC Articles for MedGen (Select 505331) - PMC

Roberto Mendoza-Londono, Edward Lammer, Rosemarie Watson, John Harper, Atsushi Hatamochi, Saori Hatamochi-Hayashi, Dobrawa Napierala, Pia Hermanns, Sinead Collins, Benjamin B. Roa, Madhuri R. Hedge, Keiko Wakui, Diep Nguyen, David W. Stockton, Brendan Lee

Am J Hum Genet. 2005 Jul; 77(1): 161–168. Published online 2005 May 27. doi: 10.1086/431654

PMCID:: PMC1226190

Abstract Article PDF–1.3M

Select item 12885755.

Haploinsufficiency of ALX4 as a Potential Cause of Parietal Foramina in the 11p11.2 Contiguous Gene–Deletion Syndrome

Yuan-Qing Wu, Jose L. Badano, Christopher McCaskill, Hannes Vogel, Lorraine Potocki, Lisa G. Shaffer

Am J Hum Genet. 2000 Nov; 67(5): 1327–1332. Published online 2000 Oct 3. doi: 10.1016/s0002-9297(07)62963-2

PMCID:: PMC1288575

Abstract Article PDF–634K

Select item 14775896.

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype

Lampros A Mavrogiannis, Indira B Taylor, Sally J Davies, Feliciano J Ramos, José L Olivares, Andrew OM Wilkie

Eur J Hum Genet. Author manuscript; available in PMC 2006 Jun 13.

Published in final edited form as: Eur J Hum Genet. 2006 Feb; 14(2): 151–158. doi: 10.1038/sj.ejhg.5201526

PMCID:: PMC1477589

Abstract Article PDF–546K

Select item 17345097.

The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)

W. Wuyts, E. Cleiren, T. Homfray, A. Rasore-Quartino, F. Vanhoenacker, W. Van Hul

J Med Genet. 2000 Dec; 37(12): 916–920. doi: 10.1136/jmg.37.12.916

PMCID:: PMC1734509

Summary PDF–166K

Select item 19146838.

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.

O. Bartsch, W. Wuyts, W. Van Hul, J. T. Hecht, P. Meinecke, D. Hogue, W. Werner, B. Zabel, G. K. Hinkel, C. M. Powell, L. G. Shaffer, P. J. Willems

Am J Hum Genet. 1996 Apr; 58(4): 734–742.

PMCID:: PMC1914683

Summary Page Browse PDF–2.6M

Select item 57886969.

Asymmetrically enlarged parietal foramina in a rare case of Goldenhar syndrome with a possible etiopathogenesis

Lika'a Fasih Y. Al-Kzayer, Shamil Naji Sarsam, Nagham Younus Alhur, Tingting Liu, Yozo Nakazawa

Oncotarget. 2018 Jan 5; 9(2): 2962–2968. Published online 2017 Dec 20. doi: 10.18632/oncotarget.23479

PMCID:: PMC5788696

Abstract Article PDF–1.2M

Select item 431840710.

Multiple Occipital, Parietal, Temporal, and Frontal Foramina: A Variant of Enlarged Parietal Foramina in an Infant

Erdem Yılmaz, Aylin Yetim, Oğuz Bülent Erol, Melih Pekcan, Ensar Yekeler

Balkan Med J. 2014 Dec; 31(4): 345–348. Published online 2014 Dec 1. doi: 10.5152/balkanmedj.2014.14528

PMCID:: PMC4318407

Abstract Article PDF–295K

Select item 431095011.

The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses

Young Bae Sohn, Shin-Young Yim, Eun-Hae Cho, Ok-Hwa Kim

J Korean Med Sci. 2015 Feb; 30(2): 214–217. Published online 2015 Jan 21. doi: 10.3346/jkms.2015.30.2.214

PMCID:: PMC4310950

Abstract Article PDF–894K

Select item 339727612.

Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies

Hyung-Goo Kim, Hyun-Taek Kim, Natalia T. Leach, Fei Lan, Reinhard Ullmann, Asli Silahtaroglu, Ingo Kurth, Anja Nowka, Ihn Sik Seong, Yiping Shen, Michael E. Talkowski, Douglas Ruderfer, Ji-Hyun Lee, Caron Glotzbach, Kyungsoo Ha, Susanne Kjaergaard, Alex V. Levin, Bernd F. Romeike, Tjitske Kleefstra, Oliver Bartsch, Sarah H. Elsea, Ethylin Wang Jabs, Marcy E. MacDonald, David J. Harris, Bradley J. Quade, Hans-Hilger Ropers, Lisa G. Shaffer, Kerstin Kutsche, Lawrence C. Layman, Niels Tommerup, Vera M. Kalscheuer, Yang Shi, Cynthia C. Morton, Cheol-Hee Kim, James F. Gusella

Am J Hum Genet. 2012 Jul 13; 91(1): 56–72. doi: 10.1016/j.ajhg.2012.05.005

PMCID:: PMC3397276

Abstract Article PDF–1.5M

Select item 361715513.

Ameloblastin Inhibits Cranial Suture Closure by Modulating Msx2 Expression and Proliferation

Phimon Atsawasuwan, Xuanyu Lu, Yoshihiro Ito, Youbin Zhang, Carla A. Evans, Xianghong Luan

PLoS One. 2013; 8(4): e52800. Published online 2013 Apr 4. doi: 10.1371/journal.pone.0052800

PMCID:: PMC3617155

Abstract Article PDF–6.2M

Select item 646056114.

De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies

Kohei Hamanaka, Yuji Sugawara, Takeyoshi Shimoji, Tone Irene Nordtveit, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Toshimitsu Suzuki, Kazuhiro Yamakawa, Ingvild Aukrust, Gunnar Houge, Satomi Mitsuhashi, Atsushi Takata, Kazuhiro Iwama, Ahmed Alkanaq, Atsushi Fujita, Eri Imagawa, Takeshi Mizuguchi, Noriko Miyake, Satoko Miyatake, Naomichi Matsumoto

Eur J Hum Genet. 2019 Mar; 27(3): 378–383. Published online 2018 Nov 28. doi: 10.1038/s41431-018-0289-x