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animals (201) 201
segmentation (181) 181
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article (38) 38
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genetics (27) 27
mice, transgenic (27) 27
scoliosis (27) 27
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causes spondylocostal dysostosis (23) 23
basic helix-loop-helix transcription factors - genetics (22) 22
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hox genes (22) 22
science (22) 22
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1. Full Text Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients
by Lefebvre, Mathilde and Dieux-Coeslier, Anne and Baujat, Geneviève and Schaefer, Elise and Judith, Saint-Onge and Bazin, Anne and Pinson, Lucile and Attie-Bitach, Tania and Baumann, Clarisse and Fradin, Melanie and Pierquin, Genevieve and Julia, Sophie and Quélin, Chloé and Doray, Bérénice and Berg, Sylvie and Vincent-Delorme, Catherine and Lambert, Laetitia and Bachmann, Nadine and Lacombe, Didier and Isidor, Bertrand and Laurent, Nicole and Joelle, Roume and Blanchet, Patricia and Odent, Sylvie and Kervran, Dominique and Leporrier, Nathalie and Abel, Carine and Segers, Karine and Guiliano, Fabienne and Ginglinger-Fabre, Emmanuelle and Selicorni, Angelo and Goldenberg, Alice and El Chehadeh, Salima and Francannet, Christine and Demeer, Benedicte and Duffourd, Yannis and Thauvin-Robinet, Christel and Verloes, Alain and Cormier-Daire, Valerie and Riviere, Jean Baptiste and Faivre, Laurence and Thevenon, Julien
Journal of Medical Genetics, ISSN 0022-2593, 06/2018, Volume 55, Issue 6, pp. 422 - 429
BackgroundSegmentation defects of the vertebrae (SDV) are non-specific features found in various syndromes. The molecular bases of SDV are not fully elucidated... 
spondylocostal dysostosis | diagnostic strategy | segmentation defect of the vertebrae | whole exome sequencing | gene panel | CAUSES SPONDYLOCOSTAL DYSOSTOSIS | GENE | VARIANTS | ANOMALIES | CONGENITAL SCOLIOSIS | GENETICS & HEREDITY | HUMANS | NOTCH SIGNALING PATHWAY | MUTATIONS | TBX6 | EPILEPTIC ENCEPHALOPATHY | Phenotypes | Vertebrae | Congenital diseases | Segmentation | Spine | Genomics | Genes | Vertebra | Dysostosis | Genomes | Somitogenesis | Patients | Signal transduction | Scoliosis | Classification | Mutation | Deoxyribonucleic acid--DNA | DNA sequencing | Life Sciences | Genetics | Human genetics
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2. Full Text Scoliosis and segmentation defects of the vertebrae
by Eckalbar, Walter L and Fisher, Rebecca E and Rawls, Alan and Kusumi, Kenro
Wiley Interdisciplinary Reviews: Developmental Biology, ISSN 1759-7684, 05/2012, Volume 1, Issue 3, pp. 401 - 423
The vertebral column derives from somites, which are transient paired segments of mesoderm that surround the neural tube in the early embryo. Somites are... 
DEVELOPMENTAL BIOLOGY | Animals | Signal Transduction | Humans | Body Patterning | Scoliosis - embryology | Spine - embryology | Spine - pathology | Scoliosis - pathology | Pattern formation | Fibroblast growth factor | Kyphosis | Vertebrae | Wnt protein | Segmentation | Spine | Congenital defects | Mesoderm | Vertebra | Somites | Somitogenesis | Embryos | Bone (axial) | Oscillators | Defects | Organogenesis | Embryogenesis | Neural tube | Scoliosis | Etiology | Polarity | Skeleton
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3. Full Text Pilot assessment of a radiologic classification system for segmentation defects of the vertebrae
by Offiah, Amaka and Alman, Benjamin and Cornier, Alberto S and Giampietro, Philip F and Tassy, Olivier and Wade, Angie and Turnpenny, Peter D and ICVAS and ICVAS (International Consortium for Vertebral Anomalies and Scoliosis)
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2010, Volume 152A, Issue 6, pp. 1357 - 1371
Existing nomenclature systems for describing and reporting congenital segmentation defects of the vertebrae (SDV) are confusing, inconsistently applied, and... 
Klippel–Feil anomaly | segmentation defects of the vertebrae | spondylocostal dysostosis | classification | Jarcho–Levin syndrome | spondylothoracic dysostosis | Spondylocostal dysostosis | Segmentation defects of the vertebrae | Jarcho-levin syndrome | Spondylothoracic dysostosis | Klippel-Feil anomaly | Classification | SPONDYLOTHORACIC-DYSPLASIA | KLIPPEL-FEIL-SYNDROME | SPINAL DEFORMITY | CONGENITAL-ANOMALIES | NATURAL-HISTORY | Jarcho-Levin syndrome | RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS | JARCHO-LEVIN-SYNDROME | GENE | GENETICS & HEREDITY | AXIAL SKELETAL DEFECTS | NOTCH SIGNALING PATHWAY | Radiography | Spine - abnormalities | Scoliosis - classification | Pilot Projects | Spine - diagnostic imaging | Scoliosis - genetics | Kyphosis - classification | Humans | Female | Kyphosis - diagnostic imaging | Kyphosis - genetics | Scoliosis - diagnostic imaging
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4. Full Text Mouse mutant "rib-vertebrae" (rv): A defect in somite polarity
by Nacke, S and Schafer, R and De Angelis, MH and Mundlos, S
DEVELOPMENTAL DYNAMICS, ISSN 1058-8388, 10/2000, Volume 219, Issue 2, pp. 192 - 200
The recessive mouse mutant rib-vertebrae (rv) affects the morphogenesis of the axial skeleton. The phenotype is characterized by vertebral defects such as... 
rib-vertebrae | somite | SONIC HEDGEHOG | INITIATION | ANATOMY & MORPHOLOGY | NOTCH | DEVELOPMENTAL BIOLOGY | LUNATIC FRINGE | SOMITOGENESIS | axial skeleton | urogenital malformation | DELTA-HOMOLOG | chromosome 7 | BOUNDARY FORMATION | GENE | SEGMENTATION DEFECTS | EXPRESSION | Notch-Delta | Humans | Glycosyltransferases | Ribs - abnormalities | Spine - abnormalities | Receptors, Notch | Mice, Mutant Strains | Spine - embryology | Ribs - embryology | Signal Transduction | Membrane Proteins - genetics | Mice, Inbred C57BL | Intracellular Signaling Peptides and Proteins | Genotype | Mice, Transgenic | Chromosome Mapping | Genetic Markers | Homeodomain Proteins - genetics | Proteins - genetics | Phenotype | Animals | Mesoderm - physiology | Chromosomes, Human, Pair 11 | Mice | beta-Galactosidase - genetics | Body Patterning - genetics | Chromosomes, Human, Pair 10 | Crosses, Genetic
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5. Full Text Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus
by Sparrow, Duncan B and Faqeih, Eissa Ali and Sallout, Bahauddin and Alswaid, Abdulrahman and Ababneh, Faroug and Al‐Sayed, Moeenaldeen and Rukban, Hadeel and Eyaid, Wafaa M and Kageyama, Ryoichiro and Ellard, Sian and Turnpenny, Peter D and Dunwoodie, Sally L
American Journal of Medical Genetics Part A, ISSN 1552-4825, 09/2013, Volume 161, Issue 9, pp. 2244 - 2249
Spondylocostal dysotosis (SCD) is a rare developmental congenital abnormality of the axial skeleton. Mutation of genes in the Notch signaling pathway cause SCD... 
HES7 | spondylocostal dysostosis | neural tube defects | dextrocardia | situs inversus | Spondylocostal dysostosis | Situs inversus | Dextrocardia | Neural tube defects | NODAL EXPRESSION | NEURAL-TUBE DEFECTS | HUMANS | DYSPLASIA | LEFT-RIGHT ASYMMETRY | SCOLIOSIS | DELTA-HOMOLOG | GENE | GENETICS & HEREDITY | SEGMENTATION | HAIRY-AND-ENHANCER-OF-SPLIT-7 | Dextrocardia - genetics | Humans | Dextrocardia - diagnosis | Infant | Male | Heart Defects, Congenital - genetics | Situs Inversus - diagnosis | Female | Situs Inversus - genetics | Abnormalities, Multiple - genetics | Infant, Newborn | Basic Helix-Loop-Helix Transcription Factors - genetics | Hernia, Diaphragmatic - genetics | Genotype | Chromosome Mapping | Phenotype | Animals | Comparative Genomic Hybridization | Pedigree | Abnormalities, Multiple - diagnosis | Heart Defects, Congenital - diagnosis | Consanguinity | Mice | Hernia, Diaphragmatic - diagnosis | Mutation | Amino Acid Substitution | Spina bifida | Genetic aspects | Birth defects | Gene mutations | Discrimination in insurance | Genetic screening | Heart | Brain | Pattern formation | Vertebrae | Spine | Congenital defects | Dysostosis | Thorax | Bone (axial) | Defects | Signal transduction | Neural tube | Notch protein | Cilia
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6. Full Text Classification and etiologic dissection of vertebral segmentation anomalies
by Turnpenny, Peter D
01/2015, ISBN 9781493921690
Spondylocostal dysostosis | Notch signaling pathway | Spondylothoracic dysostosis | Segmentation defects of the vertebrae (SDV) | Somitogenesis | Jarcho-Levin syndrome | Klippel-Feil syndrome
Book Chapter
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7. Full Text Pathology in a Permian parareptile: congenital malformation of sacral vertebrae
by Turner, M. L and Sidor, C. A
Journal of Zoology, ISSN 0952-8369, 01/2018, Volume 304, Issue 1, pp. 13 - 20
Pareiasaurs were a group of herbivorous reptiles that lived during the middle to late Permian (265–252 Ma). About 20 species are currently recognized from a... 
amniotes | Permian | paleopathology | congenital malformation | parareptile | sacral vertebrae | Pareiasauria | PHYLOGENY | DINOSAUR | HEMIVERTEBRA | FAILURE | ANATOMY | EVOLUTION | ZOOLOGY | SEGMENTATION | BACKBONE | Development and progression | Evolution | Birth defects | Genetic disorders | Reptiles | Vertebrae | Spondyloarthropathy | Congenital defects | Biological evolution | Vertebra | Mudstone | Anatomy | Fossils | Pathology | Sacrum | Etiology | Morphology | Body size | Elongation
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8. Full Text The aetiology behind torticollis and variable spine defects in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome: 3D CT scan analysis
by Al Kaissi, Ali and Ganger, Rudolf and Hofstaetter, Jochen G and Klaushofer, Klaus and Grill, Franz
European Spine Journal, ISSN 0940-6719, 10/2011, Volume 20, Issue 10, pp. 1720 - 1727
The aim of the article is fourfold; firstly, to detect the aetiology of torticollis in patients with Müllerian duct/renal aplasia-cervicothoracic somite... 
Surgical Orthopedics | Torticollis | Posterior spine ankylosis | Medicine & Public Health | Failure of segmentation | MURCS association | Neurosurgery | Forestier disease | CT scan | POSTERIOR LONGITUDINAL LIGAMENT | CONGENITAL-ANOMALIES | JUNCTION | CLINICAL NEUROLOGY | SCOLIOSIS | CHILDREN | ATLAS | KLIPPEL-FEIL SYNDROME | OSSIFICATION | ORTHOPEDICS | Cervical Vertebrae - abnormalities | Thoracic Vertebrae - diagnostic imaging | 46, XX Disorders of Sex Development - complications | Cervical Vertebrae - diagnostic imaging | Torticollis - etiology | Humans | Imaging, Three-Dimensional - methods | Child, Preschool | Tomography, X-Ray Computed - methods | Infant | Male | Congenital Abnormalities | Spinal Diseases - etiology | Mullerian Ducts - abnormalities | Thoracic Vertebrae - abnormalities | Kidney - abnormalities | Adolescent | Hyperostosis, Diffuse Idiopathic Skeletal - diagnostic imaging | Hyperostosis, Diffuse Idiopathic Skeletal - etiology | Somites - abnormalities | Spinal Diseases - diagnostic imaging | Female | Child | Torticollis - diagnostic imaging | CT imaging | Dysplasia | Care and treatment | Diagnostic imaging | Genetic disorders | Original
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9. Full Text VRTN is required for the development of thoracic vertebrae in mammals
by Duan, Yanyu and Zhang, Hui and Zhang, Zhen and Gao, Jun and Yang, Jie and Wu, Zhongping and Fan, Yin and Xing, Yuyun and Li, Lin and Xiao, Shijun and Hou, Yong and Ren, Jun and Huang, Lusheng
International Journal of Biological Sciences, ISSN 1449-2288, 04/2018, Volume 14, Issue 6, pp. 667 - 681
Vertnin (VRTN) variants are associated with thoracic vertebral number (TVN) in pigs. However, the biological function of VRTN remains poorly understood. Here... 
Somitogenesis | Transcription factor | Thoracic vertebrae | VRTN | transcription factor | thoracic vertebrae | NUMBER | MEAT QUALITY | BIOCHEMISTRY & MOLECULAR BIOLOGY | somitogenesis | SOMITE SEGMENTATION | LUNATIC FRINGE | DIFFERENTIAL GENE-EXPRESSION | RESOURCE POPULATION | QUANTITATIVE TRAIT LOCI | SIGNALING PATHWAY | SEGMENTATION CLOCK | PRESOMITIC MESODERM | Binding | Vertebrae | Segmentation | Vertebra | Genomes | Thorax | Somites | Mammals | Embryos | Nuclei | Signal transduction | Swine | Notch protein | Pork | Deoxyribonucleic acid--DNA
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10. Full Text Chondrocyte-Specific Inhibition of β-Catenin Signaling Leads to Dysplasia of the Caudal Vertebrae in Mice
by Shu, Bing and Li, Tian-Fang and Li, Xiao-Feng and Tang, De-Zhi and Zhang, Yejia and Shi, Qi and Wang, Yong-Jun and Chen, Di
Spine, ISSN 0362-2436, 11/2013, Volume 38, Issue 24, pp. 2079 - 2084
STUDY DESIGN.To inhibit β-catenin specifically signaling in chondrocytes Col2-ICAT transgenic mice were generated. Anomalies in caudal vertebrae were detected... 
beta-catenin | DEFECTS | MOUSE | CLINICAL NEUROLOGY | ICAT | chondrocyte | WNT/BETA-CATENIN | SEGMENTATION CLOCK | GROWTH | caudal vertebral dysplasia | DIFFERENTIATION | SOX9 | WNT CORECEPTOR | ORTHOPEDICS | EXPRESSION | Immunohistochemistry | Chondrocytes - cytology | Cell Proliferation | Repressor Proteins | Spine - metabolism | Promoter Regions, Genetic - genetics | X-Ray Microtomography | Embryo, Mammalian - metabolism | Spine - abnormalities | Cell Cycle Proteins - genetics | Chondrocytes - metabolism | Tail - diagnostic imaging | Signal Transduction | Mice, Inbred C57BL | Cell Cycle Proteins - metabolism | Mice, Transgenic | Transcription Factors - genetics | beta Catenin - metabolism | Collagen Type II - genetics | Embryo, Mammalian - abnormalities | beta Catenin - genetics | Transcription Factors - metabolism | Spine - diagnostic imaging | Animals | Tail - abnormalities | Enhancer Elements, Genetic - genetics | Mice | Tail - metabolism | β-catenin | Basic Science
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11. Full Text Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16–18, 2017, Dallas, Texas
by Giampietro, Philip F and Pourquie, Olivier and Raggio, Cathy and Ikegawa, Shiro and Turnpenny, Peter D and Gray, Ryan and Dunwoodie, Sally L and Gurnett, Christina A and Alman, Benjamin and Cheung, Kenneth and Kusumi, Kenro and Hadley‐Miller, Nancy and Wise, Carol A
American Journal of Medical Genetics Part A, ISSN 1552-4825, 01/2018, Volume 176, Issue 1, pp. 253 - 256
Scoliosis represents the most common musculoskeletal disorder in children and affects approximately 3% of the world population. Scoliosis is separated into two... 
congenital scoliosis | idiopathic scoliosis | spine deformity | GWAS | phenotypic classification | natural history | RARE VARIANTS | SEGMENTATION DEFECTS | GENETICS & HEREDITY | TBX6 | ASSOCIATION | LOCUS | Humans | Scoliosis - genetics | Scoliosis - diagnosis | Scoliosis | Children's hospitals | Genetic disorders | Vertebrae | Project finance | Spine | Congenital defects | Conditioned stimulus | Genetics | Research | Children | Synergism
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12. Full Text Segmentation failure of the posterior elements at the cervical spine and cervicothoracic junction: report of three cases
by Rusconi, Angelo and Maestretti, Gianluca
Surgical and Radiologic Anatomy, ISSN 0930-1038, 12/2018, Volume 40, Issue 12, pp. 1379 - 1382
PurposeVertebral segmentation and fusion failures are quite common and often occur as incidental findings. These anatomical variants may be associated with... 
Vertebral anatomy | Congenital malformation | Cervical spine | Absent cervical pedicle | Spine surgery | Cervical lateral mass | SURGERY | ANATOMY & MORPHOLOGY | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | CONGENITAL ABSENCE | Spinal Diseases - congenital | Cervical Vertebrae - abnormalities | Thoracic Vertebrae - diagnostic imaging | Cervical Vertebrae - diagnostic imaging | Humans | Middle Aged | Male | Tomography, X-Ray Computed | Young Adult | Anatomic Variation | Thoracic Vertebrae - abnormalities | Adolescent | Spinal Diseases - diagnostic imaging | Imaging, Three-Dimensional | Medicine, Experimental | Medical research | Birth defects | Genetic disorders
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13. Full Text Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6
by Sparrow, Duncan B and McInerney-Leo, Aideen and Gucev, Zoran S and Gardiner, Brooke and Marshall, Mhairi and Leo, Paul J and Chapman, Deborah L and Tasic, Velibor and Shishko, Abduhadi and Brown, Matthew A and Duncan, Emma L and Dunwoodie, Sally L
Human Molecular Genetics, ISSN 0964-6906, 04/2013, Volume 22, Issue 8, pp. 1625 - 1631
In humans, congenital spinal defects occur with an incidence of 0.51 per 1000 live births. One of the most severe syndromes with such defects is spondylocostal... 
MESP2 | ETIOLOGY | ZEBRAFISH | GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | SEGMENTATION DEFECTS | MOUSE EMBRYOS | GENETICS & HEREDITY | RIB-VERTEBRAE | SOMITOGENESIS | PRESOMITIC MESODERM | DLL3 | Abnormalities, Multiple - pathology | Somites - metabolism | Hernia, Diaphragmatic - pathology | Humans | Heart Defects, Congenital - pathology | Hernia, Diaphragmatic - genetics | Abnormalities, Multiple - diagnostic imaging | Somites - growth & development | Sequence Analysis, DNA | T-Box Domain Proteins - genetics | T-Box Domain Proteins - metabolism | Radiography | Heart Defects, Congenital - genetics | Animals | Genes, Dominant | Heart Defects, Congenital - diagnostic imaging | Pedigree | Hernia, Diaphragmatic - diagnostic imaging | Mice | Mutation | Body Patterning - genetics | Abnormalities, Multiple - genetics | Disease Models, Animal
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14. Full Text Skeletal defects in ringelschwanz mutant mice reveal that Lrp6 is required for proper somitogenesis and osteogenesis
by Chikara Kokubu and Ulrich Heinzmann and Tomoko Kokubu and Norio Sakai and Takuo Kubota and Masanobu Kawai and Matthias B. Wahl and Juan Galceran and Rudolf Grosschedl and Keiichi Ozono and Kenji Imai
Development, ISSN 0950-1991, 11/2004, Volume 131, Issue 21, pp. 5469 - 5480
Here, we present evidence that Lrp6, a coreceptor for Wnt ligands, is required for the normal formation of somites and bones. By positional cloning, we... 
Lrp6 | Osteoporosis | Wnt signaling | Somitogenesis | Mouse | WNT SIGNALING PATHWAY | CERVICAL-VERTEBRAE | HOUSE MOUSE | somitogenesis | SOMITE SEGMENTATION | DEVELOPMENTAL BIOLOGY | DEFICIENT MICE | osteoporosis | LUNATIC-FRINGE | PARAXIAL MESODERM | mouse | DELTA HOMOLOG | GENE-EXPRESSION | RECEPTOR-RELATED PROTEIN-5 | Cell Polarity | Molecular Sequence Data | Wnt Proteins | Musculoskeletal Abnormalities - pathology | Receptors, LDL - chemistry | DNA-Binding Proteins - deficiency | Embryo, Mammalian - metabolism | Somites - cytology | DNA-Binding Proteins - metabolism | Somites - chemistry | Lumbosacral Region - embryology | Base Sequence | Fibroblasts | Cytoskeletal Proteins - metabolism | Osteogenesis - genetics | Basic Helix-Loop-Helix Transcription Factors | Proto-Oncogene Proteins - metabolism | Somites - metabolism | Amino Acid Sequence | Receptors, LDL - genetics | Low Density Lipoprotein Receptor-Related Protein-6 | Signal Transduction | beta Catenin | Receptors, LDL - metabolism | DNA-Binding Proteins - genetics | Mutation - genetics | Embryo, Mammalian - abnormalities | Lumbosacral Region - abnormalities | Mice, Knockout | Phenotype | Sequence Alignment | Animals | Aging - physiology | Embryo, Mammalian - embryology | Musculoskeletal Abnormalities - metabolism | Embryo, Mammalian - cytology | Musculoskeletal Abnormalities - genetics | Alleles | Trans-Activators - metabolism | Mice | Body Patterning - genetics
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