Advertisement

Browse Subject Areas

?

Click through the PLOS taxonomy to find articles in your field.

For more information about PLOS Subject Areas, click here.

Birth defects

Effect of the G375C and G346E Achondroplasia Mutations on FGFR3 Activation

Lijuan He, Christopher Serrano, Nitish Niphadkar, Nadia Shobnam, Kalina Hristova

published 18 Apr 2012

Loading metrics information...

Metrics unavailable. Please check back later.

BMP4 Was Associated with NSCL/P in an Asian Population

Qianqian Chen, Hong Wang, Jacqueline B. Hetmanski, Tianxiao Zhang, Ingo Ruczinski, Holger Schwender, Kung Yee Liang, M. Daniele Fallin, Richard J. Redett, Gerald V. Raymond, Yah-Huei Wu Chou, Philip Kuo-Ting Chen, Vincent Yeow, Samuel S. Chong, Felicia S. H. Cheah, Ethylin Wang Jabs, Alan F. Scott, Terri H. Beaty

published 13 Apr 2012

Loading metrics information...

Metrics unavailable. Please check back later.

Screening of MAMLD1 Mutations in 70 Children with 46,XY DSD: Identification and Functional Analysis of Two New Mutations

Nicolas Kalfa, Maki Fukami, Pascal Philibert, Francoise Audran, Catherine Pienkowski, Jacques Weill, Graziella Pinto, Sylvie Manouvrier, Michel Polak, Totsumo Ogata, Charles Sultan

published 30 Mar 2012

Loading metrics information...

Metrics unavailable. Please check back later.

Exploring the Caffeine-Induced Teratogenicity on Neurodevelopment Using Early Chick Embryo

Zheng-lai Ma, Yang Qin, Guang Wang, Xiao-di Li, Rong-rong He, Manli Chuai, Hiroshi Kurihara, Xuesong Yang

published 28 Mar 2012

Loading metrics information...

Metrics unavailable. Please check back later.

Asymmetrical Dimethylarginine - More Sensitive than NT-proBNP to Diagnose Heart Failure in Adults with Congenital Heart Disease

Oktay Tutarel, Agnieszka Denecke, Stefanie M. Bode-Böger, Jens Martens-Lobenhoffer, Svjetlana Lovric, Johann Bauersachs, Bernhard Schieffer, Mechthild Westhoff-Bleck, Jan T. Kielstein

published 21 Mar 2012

Loading metrics information...

Metrics unavailable. Please check back later.

Genetic Polymorphisms of the TYMS Gene Are Not Associated with Congenital Cardiac Septal Defects in a Han Chinese Population

Jian-Yuan Zhao, Jing-Wei Sun, Zhuo-Ya Gu, Jue Wang, Er-Li Wang, Xue-Yan Yang, Bin Qiao, Wen-Yuan Duan, Guo-Ying Huang, Hong-Yan Wang

published 23 Feb 2012

Loading metrics information...

Metrics unavailable. Please check back later.

Healthy Growth in Children with Down Syndrome

Helma B. M. Van Gameren-Oosterom, Paula Van Dommelen, Anne Marie Oudesluys-Murphy, Simone E. Buitendijk, Stef Van Buuren, Jacobus P. Van Wouwe

published 17 Feb 2012

Loading metrics information...

Metrics unavailable. Please check back later.

Conditional Ablation of Ezh2 in Murine Hearts Reveals Its Essential Roles in Endocardial Cushion Formation, Cardiomyocyte Proliferation and Survival

Li Chen, Yanlin Ma, Eun Young Kim, Wei Yu, Robert J. Schwartz, Ling Qian, Jun Wang

published 01 Feb 2012

Loading metrics information...

Metrics unavailable. Please check back later.

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

Erik G. Puffenberger, Robert N. Jinks, Carrie Sougnez, Kristian Cibulskis, Rebecca A. Willert, Nathan P. Achilly, Ryan P. Cassidy, Christopher J. Fiorentini, Kory F. Heiken, Johnny J. Lawrence, Molly H. Mahoney, Christopher J. Miller, Devika T. Nair, Kristin A. Politi, Kimberly N. Worcester, Roni A. Setton, Rosa DiPiazza, Eric A. Sherman, James T. Eastman, Christopher Francklyn, Susan Robey-Bond, Nicholas L. Rider, Stacey Gabriel, D. Holmes Morton, Kevin A. Strauss

published 17 Jan 2012

Loading metrics information...

Metrics unavailable. Please check back later.

Cardiac Alpha-Myosin (MYH6) Is the Predominant Sarcomeric Disease Gene for Familial Atrial Septal Defects

Maximilian G. Posch, Stephan Waldmuller, Melanie Müller, Thomas Scheffold, David Fournier, Miguel A. Andrade-Navarro, Bernard De Geeter, Sophie Guillaumont, Claire Dauphin, Dany Yousseff, Katharina R. Schmitt, Andreas Perrot, Felix Berger, Roland Hetzer, Patrice Bouvagnet, Cemil Özcelik

published 14 Dec 2011

Loading metrics information...

Metrics unavailable. Please check back later.

A Genetic Signature of Spina Bifida Risk from Pathway-Informed Comprehensive Gene-Variant Analysis

Nicholas J. Marini, Thomas J. Hoffmann, Edward J. Lammer, Jill Hardin, Katherine Lazaruk, Jason B. Stein, Dennis A. Gilbert, Crystal Wright, Anna Lipzen, Len A. Pennacchio, Suzan L. Carmichael, John S. Witte, Gary M. Shaw, Jasper Rine

published 30 Nov 2011

Loading metrics information...

Metrics unavailable. Please check back later.

Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias

Slimane Allali, Jean-Baptiste Muller, Raja Brauner, Diana Lourenço, Radia Boudjenah, Vasiliki Karageorgou, Christine Trivin, Henri Lottmann, Stephen Lortat-Jacob, Claire Nihoul-Fékété, Olivier De Dreuzy, Ken McElreavey, Anu Bashamboo

published 20 Oct 2011

Loading metrics information...

Metrics unavailable. Please check back later.

The Effect of Cleft Lip on Adults' Responses to Faces: Cross-Species Findings

Christine E. Parsons, Katherine S. Young, Emma Parsons, Annika Dean, Lynne Murray, Tim Goodacre, Louise Dalton, Alan Stein, Morten L. Kringelbach

published 10 Oct 2011

Loading metrics information...

Metrics unavailable. Please check back later.

Advertisement

Create a weekly email alert for: Birth defects

You can change these options by clicking profile then "Alerts and Notifications"