1 |
Identification of novel LFNG mutations in spondylocostal dysostosis.
57
6
61
|
Otomo N...Ikegawa S
|
30531807 |
2019 |
2 |
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype.
57
6
61
|
Sparrow DB...Dunwoodie SL
|
16385447 |
2006 |
3 |
Mutated MESP2 causes spondylocostal dysostosis in humans.
61
57
|
Whittock NV...Turnpenny PD
|
15122512 |
2004 |
4 |
Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6.
61
|
Wegler M...Hornemann F
|
33410135 |
2021 |
5 |
Altered Cogs of the Clock: Insights into the Embryonic Etiology of Spondylocostal Dysostosis.
61
|
Nobrega A...Andrade RP
|
33572886 |
2021 |
6 |
An additional piece in the TBX6 gene dosage model: A novel nonsense variant in a fetus with severe spondylocostal dysostosis.
61
|
Errichiello E...Zuffardi O
|
33058178 |
2020 |
7 |
Diseases related to Notch glycosylation.
61
|
Matsumoto K...Haltiwanger RS
|
33341260 |
2020 |
8 |
High-flow nasal cannula therapy in a case of spondylocostal dysostosis type 2.
61
|
Yamada S...Cho K
|
33089894 |
2020 |
9 |
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.
61
|
Serey-Gaut M...Van Maldergem L
|
32212228 |
2020 |
10 |
Recapitulating the human segmentation clock with pluripotent stem cells.
61
|
Matsuda M...Alev C
|
32238941 |
2020 |
11 |
Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome.
61
|
Lemire GT...Delrue MA
|
31880412 |
2020 |
12 |
Jarcho-Levin Syndrome: Two Consecutive Cases in the Same Family.
61
|
Grigorios P...Konstantinos P
|
32518573 |
2019 |
13 |
Butterfly Vertebrae: A Systematic Review of the Literature and Analysis.
61
|
Katsuura Y...Kim HJ
|
31448202 |
2019 |
14 |
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis.
61
|
Otomo N...Ikegawa S
|
31015262 |
2019 |
15 |
An In Vitro Human Segmentation Clock Model Derived from Embryonic Stem Cells.
61
|
Chu LF...Thomson JA
|
31461642 |
2019 |
16 |
Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series.
61
|
Panigrahi I...Khandelwal N
|
30921094 |
2019 |
17 |
Spondylocostal Dysostosis (Jarcho-Levin Syndrome) in an Adult Patient with Consanguineous Parents, in Long-Term Follow-Up.
61
|
Rustemi O...Segna A
|
30448585 |
2019 |
18 |
Spondylocostal Dysostosis Associated with Split Spinal Cord and Other Malformations.
61
|
Milic I...Marinkovic S
|
31597143 |
2019 |
19 |
A Cryptic Cause of Cardiac Arrest.
61
|
Mokhateb-Rafii T...Sweberg T
|
30420309 |
2019 |
20 |
Screening of known disease genes in congenital scoliosis.
61
|
Takeda K...Ikegawa S
|
30196550 |
2018 |
21 |
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients.
61
|
Lefebvre M...Thevenon J
|
29459493 |
2018 |
22 |
Spondylocostal Dysostosis (Jarcho Levin Syndrome).
61
|
Kurup PM...Bhat BV
|
29270795 |
2018 |
23 |
Homozygous DMRT2 variant associates with severe rib malformations in a newborn.
61
|
Bouman A...Mathijssen IB
|
29681102 |
2018 |
24 |
Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient.
61
|
Southam BR...Crawford AH
|
29765785 |
2018 |
25 |
Response to Lefebvre et al.
61
|
Takeda K...Ikegawa S
|
28990171 |
2017 |
26 |
Lipomeningomyelocele with Fatty Filum Terminale in a Patient with Jarcho-Levin Syndrome: A Rare Association Requiring Special Attention.
61
|
Singh S...Kumar R
|
29675085 |
2017 |
27 |
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis.
61
|
Lefebvre M...Thevenon J
|
27861764 |
2017 |
28 |
The developmental biology of genetic Notch disorders.
61
|
Masek J...Andersson ER
|
28512196 |
2017 |
29 |
Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in TBX6 Causes Congenital Scoliosis.
61
|
Takeda K...Ikegawa S
|
28054739 |
2017 |
30 |
Combined use of Neurally Adjusted Ventilatory Assist (NAVA) and Vertical Expandable Prostethic Titanium Rib (VEPTR) in a patient with Spondylocostal dysostosis and associated bronchomalacia.
61
|
Pons-Odena M...Cambra FJ
|
28196820 |
2017 |
31 |
Congenital hemangioma in spondylocostal dysostosis: a novel association.
61
|
Salinas-Torres VM
|
28300884 |
2016 |
32 |
Mind the gap: an unusual case of a cervical lipomyelocele.
61
|
Valeur NS...Ishak GE
|
27594964 |
2016 |
33 |
[Spondylocostal dysostosis and acute cholangitis in pediatrics emergency room].
61
|
Aviles-Martinez KI
|
29421389 |
2016 |
34 |
Fetus with Casamassima-Morton-Nance Syndrome and Limb-Body Wall Defect: Presentation of a Novel Association and Review of the Phenotype.
61
|
Salinas-Torres VM
|
26367183 |
2016 |
35 |
Context-Dependent Sensitivity to Mutations Disrupting the Structural Integrity of Individual EGF Repeats in the Mouse Notch Ligand DLL1.
61
|
Schuster-Gossler K...Gossler A
|
26801181 |
2016 |
36 |
The many roles of Notch signaling during vertebrate somitogenesis.
61
|
Wahi K...Cole SE
|
25483003 |
2016 |
37 |
Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature.
61
|
Rai N...Dwivedi AD
|
26962344 |
2015 |
38 |
Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases.
61
|
Muthukumar N
|
26167215 |
2015 |
39 |
Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat.
61
|
Abe K...Mashimo T
|
26090680 |
2015 |
40 |
Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel-Chen-Johnson syndrome).
61
|
Becerra-Solano LE...Garcia-Ortiz JE
|
25304117 |
2015 |
41 |
Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.
61
|
Willet CE...Wade CM
|
25659135 |
2015 |
42 |
Correction: Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat.
61
|
Abe K...Mashimo T
|
26222705 |
2015 |
43 |
Management of thoracic insufficiency syndrome in patients with Jarcho-Levin syndrome using VEPTRs (vertical expandable prosthetic titanium ribs).
61
|
Karlin JG...Joshi AP
|
25378514 |
2014 |
44 |
Spinal and pelvic corrections in a patient with spondylocostal dysplasia syndrome and hemimyelomeningocele.
61
|
Al Kaissi A...Grill F
|
25323186 |
2014 |
45 |
Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature.
61
|
Anjankar SD...Subodh R
|
25624929 |
2014 |
46 |
Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm.
61
|
Nagasawa H...Miura R
|
24666313 |
2014 |
47 |
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.
61
|
Sparrow DB...Dunwoodie SL
|
23897666 |
2013 |
48 |
Notch signaling in skeletal health and disease.
61
|
Zanotti S...Canalis E
|
23554451 |
2013 |
49 |
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.
61
|
Sparrow DB...Dunwoodie SL
|
23335591 |
2013 |
50 |
Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis.
61
|
Makino Y...Iimura T
|
23238123 |
2013 |