Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome

Whole-Exome Sequencing Identifies HomozygousGPR161Mutation in a Family with Pituitary Stalk Interruption Syndrome

(2015) Ender Karaca et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis

(2015) Nan Wu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects

(2014) Aideen M. McInerney-Leo et al.   HUMAN MOLECULAR GENETICS

Mutations in MEOX1, Encoding Mesenchyme Homeobox 1, Cause Klippel-Feil Anomaly

(2013) Jawahir Y. Mohamed et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype

(2013) Fatih Bayrakli et al.   BMC GENETICS

The Xenopus homologue of Down syndrome critical region protein 6 drives dorsoanterior gene expression and embryonic axis formation by antagonising polycomb group proteins

(2013) H.-Y. Li et al.   DEVELOPMENT

Metameric pattern of intervertebral disc/vertebral body is generated independently of Mesp2/Ripply-mediated rostro-caudal patterning of somites in the mouse embryo

(2013) Yu Takahashi et al.   DEVELOPMENTAL BIOLOGY

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

(2013) Matthew N Bainbridge et al.   Genome Medicine

Klippel–Feil syndrome associated with situs inversus: Description of a new case and exclusion of GDF1, GDF3 and GDF6 as causal genes

(2012) Oscar Chacón-Camacho et al.   European Journal of Medical Genetics

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation

(2012) Davut Pehlivan et al.   GENETICS IN MEDICINE

ConSurf 2010: calculating evolutionary conservation in sequence and structure of proteins and nucleic acids

(2010) H. Ashkenazy et al.   NUCLEIC ACIDS RESEARCH

Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies

(2009) M. Ye et al.   HUMAN MOLECULAR GENETICS

The Xenopus Bowline/Ripply family proteins negatively regulate the transcriptional activity of T-box transcription factors

(2009) Keisuke Hitachi et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

(2008) May Tassabehji et al.   HUMAN MUTATION

Tbx6 Regulates Left/Right Patterning in Mouse Embryos through Effects on Nodal Cilia and Perinodal Signaling

(2008) Anna-Katerina Hadjantonakis et al.   PLoS One