| P50 | author | Claire M Wade | Q30530695 |
| | Cali E Willet | Q56515267 |
| P2093 | author name string | Richard Malik | |
| | Bianca Haase | |
| | George Tsoukalas | |
| | George Reppas | |
| | Mariano Makara | |
| P2860 | cites work | Characterization of heritable thoracic hemivertebra of the German shorthaired pointer | Q70514574 |
| | Dental and craniofacial findings in eight miniature schnauzer dogs affected by myotonia congenita: preliminary results | Q77988966 |
| | Detection of a genetic mutation for myotonia congenita among Miniature Schnauzers and identification of a common carrier ancestor | Q78351287 |
| | Natural history of thoracic insufficiency syndrome: a spondylothoracic dysplasia perspective | Q80139889 |
| | Evaluation of SLC35A3 as a candidate gene for human vertebral malformations | Q83324754 |
| | Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome | Q21710714 |
| | Genome sequence, comparative analysis and haplotype structure of the domestic dog | Q22122465 |
| | Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis | Q22253406 |
| | Hes7: a bHLH-type repressor gene regulated by Notch and expressed in the presomitic mesoderm | Q24290956 |
| | Mutated MESP2 causes spondylocostal dysostosis in humans | Q24534025 |
| | Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype | Q24540500 |
| | Fast and accurate short read alignment with Burrows-Wheeler transform | Q24653853 |
| | PLINK: a tool set for whole-genome association and population-based linkage analyses | Q24677407 |
| | Haploview: analysis and visualization of LD and haplotype maps | Q27860955 |
| | The Sequence Alignment/Map format and SAMtools | Q27860966 |
| | Primer3 on the WWW for general users and for biologist programmers | Q27861030 |
| | Organizing principles of mammalian nonsense-mediated mRNA decay | Q28302705 |
| | Instability of Hes7 protein is crucial for the somite segmentation clock | Q28505422 |
| | Periodic repression by the bHLH factor Hes7 is an essential mechanism for the somite segmentation clock | Q28585491 |
| | Dynamic expression and essential functions of Hes7 in somite segmentation | Q28593057 |
| | Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis | Q28593626 |
| | Leading the way: canine models of genomics and disease | Q33798619 |
| | Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. | Q34323559 |
| | Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis | Q34329197 |
| | A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation | Q34475345 |
| | Segmental patterning of the vertebrate embryonic axis | Q34770048 |
| | Nasca classification of hemivertebra in five dogs | Q35042035 |
| | Controversies surrounding Jarcho-Levin syndrome | Q35590307 |
| | Understanding hereditary diseases using the dog and human as companion model systems | Q36021334 |
| | Abnormal vertebral segmentation and the notch signaling pathway in man. | Q36819707 |
| | Notch signaling, the segmentation clock, and the patterning of vertebrate somites | Q37503775 |
| | A proposed radiographic classification scheme for congenital thoracic vertebral malformations in brachycephalic "screw-tailed" dog breeds. | Q39191495 |
| | A mechanism for gene-environment interaction in the etiology of congenital scoliosis. | Q51795735 |
| | Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. | Q53096591 |
| | Phenotype characterization and natural history of spondylothoracic dysplasia syndrome: a series of 27 new cases. | Q53619922 |
| | Nosology and classification of genetic skeletal disorders: 2010 revision. | Q55117232 |
| | Severe spondylocostal dysostosis associated with other congenital anomalies: A clinical/epidemiologic analysis and description of ten cases from the Spanish registry | Q60326140 |
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | autosomal recessive spondylocostal dysostosis | Q55999487 |
| P304 | page(s) | e0117055 | |
| P577 | publication date | 2015-02-06 | |
| P1433 | published in | PLOS One | Q564954 |
| P1476 | title | Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs | |
| P478 | volume | 10 | |