The developmental and genetic basis of ‘clubfoot’ in the peroneal muscular atrophy mutant mouse

Genetics of clubfoot; recent progress and future perspectives

(2018) Sulman Basit et al.   European Journal of Medical Genetics

WBSCR16 Is a Guanine Nucleotide Exchange Factor Important for Mitochondrial Fusion

(2017) Guorui Huang et al.   Cell Reports

The CASTOR Proteins Are Arginine Sensors for the mTORC1 Pathway

(2016) Lynne Chantranupong et al.   CELL

Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus

(2016) Haiou Yang et al.   HUMAN GENETICS

High-throughput discovery of novel developmental phenotypes

(2016) Mary E. Dickinson et al.   NATURE

Familial microduplication of 17q23.1-q23.2 involving TBX4 is associated with congenital clubfoot and reduced penetrance in females

(2013) Jess F. Peterson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

RNA-Seq Profiling of Spinal Cord Motor Neurons from a Presymptomatic SOD1 ALS Mouse

(2013) Urmi Bandyopadhyay et al.   PLoS One

3D MRI Analysis of the Lower Legs of Treated Idiopathic Congenital Talipes Equinovarus (Clubfoot)

(2013) Suzanne L. Duce et al.   PLoS One

Studies ofTBX4and chromosome 17q23.1q23.2: An uncommon cause of nonsyndromic clubfoot

(2012) W. Lu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Growth Defects and Impaired Cognitive–Behavioral Abilities in Mice with Knockout for Eif4h, a Gene Located in the Mouse Homolog of the Williams-Beuren Syndrome Critical Region

(2012) Simona Capossela et al.   AMERICAN JOURNAL OF PATHOLOGY

LIM kinase 1 deficient mice have reduced bone mass

(2012) Tsutomu Kawano et al.   BONE

GTF2IRD2 from the Williams-Beuren critical region encodes a mobile-element-derived fusion protein that antagonizes the action of its related family members

(2012) S. J. Palmer et al.   JOURNAL OF CELL SCIENCE

A Role for Transcription Factor GTF2IRD2 in Executive Function in Williams-Beuren Syndrome

(2012) Melanie A. Porter et al.   PLoS One

Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot

(2011) Katelyn S. Weymouth et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

SeqGene: a comprehensive software solution for mining exome- and transcriptome- sequencing data

(2011) Xutao Deng   BMC BIOINFORMATICS

cis-regulatory mutations are a genetic cause of human limb malformations

(2011) Julia E. VanderMeer et al.   DEVELOPMENTAL DYNAMICS

Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice

(2011) D. M. Alvarado et al.   HUMAN MOLECULAR GENETICS

Congenital clubfoot with concomitant peroneal nerve palsy in children

(2011) Kwang Soon Song et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B

Genetics of clubfoot

(2011) Matthew B. Dobbs et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B

Familial Isolated Clubfoot Is Associated with Recurrent Chromosome 17q23.1q23.2 Microduplications Containing TBX4

(2010) David M. Alvarado et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The importance of elastin to aortic development in mice

(2010) Jessica E. Wagenseil et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Tissue specific characterisation of Lim-kinase 1 expression during mouse embryogenesis

(2010) Nils O. Lindström et al.   GENE EXPRESSION PATTERNS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

The Bone Morphogenetic Protein Roof Plate Chemorepellent Regulates the Rate of Commissural Axonal Growth

(2010) K. D. Phan et al.   JOURNAL OF NEUROSCIENCE

Altered transmission ofHOXand apoptotic SNPs identify a potential common pathway for clubfoot

(2009) Audrey R. Ester et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The Drop Toe Sign: An Indicator of Neurologic Impairment in Congenital Clubfoot

(2009) Eric W. Edmonds et al.   CLINICAL ORTHOPAEDICS AND RELATED RESEARCH

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

(2009) Nathalie Van der Aa et al.   European Journal of Medical Genetics

Micro-magnetic resonance imaging and embryological analysis of wild-type andpmamutant mice with clubfoot

(2009) Suzanne Duce et al.   JOURNAL OF ANATOMY

Negative Autoregulation ofGTF2IRD1in Williams-Beuren Syndrome via a Novel DNA Binding Mechanism

(2009) Stephen J. Palmer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Src Family Kinases Are Required for Limb Trajectory Selection by Spinal Motor Axons

(2009) T.-J. Kao et al.   JOURNAL OF NEUROSCIENCE

Syncytin-A knockout mice demonstrate the critical role in placentation of a fusogenic, endogenous retrovirus-derived, envelope gene

(2009) A. Dupressoir et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Leg muscle atrophy in idiopathic congenital clubfoot: is it primitive or acquired?

(2009) Ernesto Ippolito et al.   Journal of Childrens Orthopaedics

Asymmetric Lower-Limb Malformations in Individuals with Homeobox PITX1 Gene Mutation

(2008) Christina A. Gurnett et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Electroporation as an efficient method of gene transfer

(2008) Noritaka Odani et al.   DEVELOPMENT GROWTH & DIFFERENTIATION

Retinoid signaling is involved in governing the waiting period for axons in chick hindlimb

(2008) Guoying Wang et al.   DEVELOPMENTAL BIOLOGY

Essential functions of the Williams-Beuren syndrome-associated TFII-I genes in embryonic development

(2008) B. Enkhmandakh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA