PMC Articles for MedGen (Select 816662) - PMC

Select item 84729091.

A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1

Kumiko Yanagi, Noriko Morimoto, Manami Iso, Yukimi Abe, Kohji Okamura, Tomoo Nakamura, Yoichi Matsubara, Tadashi Kaname

J Hum Genet. 2021; 66(10): 1029–1034. Published online 2021 Mar 15. doi: 10.1038/s10038-021-00915-z

PMCID:: PMC8472909

Select item 72020542.

Loss-of-Function of Endothelin Receptor Type A Results in Oro-Oto-Cardiac Syndrome

Amanda Barone Pritchard, Stanley M. Kanai, Bryan Krock, Erica Schindewolf, Jennifer Oliver-Krasinski, Nahla Kahlek, Najeah Okashah, Nevin A. Lambert, Andre L.P. Tavares, Elaine Zackai, David E. Clouthier

Am J Med Genet A. Author manuscript; available in PMC 2021 May 1.

Published in final edited form as: Am J Med Genet A. 2020 May; 182(5): 1104–1116. Published online 2020 Mar 5. doi: 10.1002/ajmg.a.61531

PMCID:: PMC7202054

Article PDF–2.2M

Select item 46665743.

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

Vanessa L Romanelli Tavares, Christopher T Gordon, Roseli M Zechi-Ceide, Nancy Mizue Kokitsu-Nakata, Norine Voisin, Tiong Y Tan, Andrew A Heggie, Siulan Vendramini-Pittoli, Evan J Propst, Blake C Papsin, Tatiana T Torres, Henk Buermans, Luciane Portas Capelo, Johan T den Dunnen, Maria L Guion-Almeida, Stanislas Lyonnet, Jeanne Amiel, Maria Rita Passos-Bueno

Eur J Hum Genet. 2015 Apr; 23(4): 481–485. Published online 2014 Jul 16. doi: 10.1038/ejhg.2014.132

PMCID:: PMC4666574

Article PDF–1.0M

Select item 38534124.

Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

Christopher T. Gordon, Florence Petit, Peter M. Kroisel, Linda Jakobsen, Roseli Maria Zechi-Ceide, Myriam Oufadem, Christine Bole-Feysot, Solenn Pruvost, Cécile Masson, Frédéric Tores, Thierry Hieu, Patrick Nitschké, Pernille Lindholm, Philippe Pellerin, Maria Leine Guion-Almeida, Nancy Mizue Kokitsu-Nakata, Siulan Vendramini-Pittoli, Arnold Munnich, Stanislas Lyonnet, Muriel Holder-Espinasse, Jeanne Amiel

Am J Hum Genet. 2013 Dec 5; 93(6): 1118–1125. doi: 10.1016/j.ajhg.2013.10.023

PMCID:: PMC3853412

Article PDF–983K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 4

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity