| 1 |
Identification of novel LFNG mutations in spondylocostal dysostosis. ( 30531807
)
|
Otomo N...Ikegawa S
|
2019 |
| 2 |
Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient. ( 29765785
)
|
Southam B.R....Crawford A.H.
|
2018 |
| 3 |
Spondylocostal dysostosis (Jarcho-Levin syndrome) in an adult patient with consanguineous parents, in long-term follow-up. ( 30448585
)
|
Rustemi O...Segna A
|
2018 |
| 4 |
Combined use of Neurally Adjusted Ventilatory Assist (NAVA) and Vertical Expandable Prostethic Titanium Rib (VEPTR) in a patient with Spondylocostal dysostosis and associated bronchomalacia. ( 28196820
)
|
Pons-Odena M....Cambra F.J.
|
2017 |
| 5 |
Spondylocostal Dysostosis (Jarcho Levin Syndrome). ( 29270795
)
|
Kurup P.M....Bhat B.V.
|
2017 |
| 6 |
Autosomal recessive variations of TBX6, from congenital scoliosis to spondylocostal dysostosis. ( 27861764
)
|
Lefebvre M....Thevenon J.
|
2016 |
| 7 |
Congenital hemangioma in spondylocostal dysostosis: a novel association. ( 28300884
)
|
Salinas-Torres V.M.
|
2016 |
| 8 |
Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. ( 26090680
)
|
Abe K....Mashimo T.
|
2015 |
| 9 |
Correction: Novel ENU-Induced Mutation in Tbx6 Causes Dominant Spondylocostal Dysostosis-Like Vertebral Malformations in the Rat. ( 26222705
)
|
Abe K....Mashimo T.
|
2015 |
| 10 |
Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases. ( 26167215
)
|
Muthukumar N.
|
2015 |
| 11 |
Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs. ( 25659135
)
|
Willet C.E....Wade C.M.
|
2015 |
| 12 |
Spondylocostal dysostosis associated with right-sided polythelia, right-sided rib deformity and meningocoele: Case report with review of literature. ( 26962344
)
|
Rai N....Dwivedi A.D.
|
2015 |
| 13 |
Spondylocostal dysostosis with lipomyelomeningocele: Case report and review of the literature. ( 25624929
)
|
Anjankar S.D....Subodh R.
|
2014 |
| 14 |
Spondylocostal dysostosis with tetralogy of Fallot and herniation of the spleen through the diaphragm. ( 24666313
)
|
Nagasawa H....Miura R.
|
2014 |
| 15 |
A rare case of fetal spondylocostal dysostosis - prenatal diagnosis and perinatal care in a patient with multiple large leiomyomas. ( 23599829
)
|
Cirstoiu M....Cirstoiu C.
|
2013 |
| 16 |
Spondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: a case report. ( 23546915
)
|
Yilmaz M.B....Baykaner K.
|
2013 |
| 17 |
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus. ( 23897666
)
|
Sparrow D.B....Dunwoodie S.L.
|
2013 |
| 18 |
Spatiotemporal disorder in the axial skeleton development of the Mesp2-null mouse: a model of spondylocostal dysostosis and spondylothoracic dysostosis. ( 23238123
)
|
Makino Y....Iimura T.
|
2013 |
| 19 |
Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. ( 23335591
)
|
Sparrow D.B....Dunwoodie S.L.
|
2013 |
| 20 |
Notch inhibition by the ligand DELTA-LIKE 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis. ( 21147753
)
|
Chapman G....Dunwoodie S.L.
|
2011 |
| 21 |
Genetic and clinical profiles of spondylocostal dysostosis patients in Taiwan. ( 22052723
)
|
Wang C.H....Tsai F.J.
|
2011 |
| 22 |
Clinical and radiological distinction between spondylothoracic dysostosis (Lavy-Moseley syndrome) and spondylocostal dysostosis (Jarcho-Levin syndrome). ( 21174082
)
|
Berdon W.E....Cowles R.A.
|
2011 |
| 23 |
Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis. ( 20087400
)
|
Sparrow D.B....Dunwoodie S.L.
|
2010 |
| 24 |
Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG. ( 20503311
)
|
Gucev Z.S....Turnpenny P.D.
|
2010 |
| 25 |
Spinal anesthesia for Cesarean delivery in a parturient with spondylocostal dysostosis. ( 19247767
)
|
Dolak J.A....Tartt S.
|
2009 |
| 26 |
Spondylocostal dysostosis associated with methylmalonic aciduria. ( 19371216
)
|
Honjo R.S....Kim C.A.
|
2009 |
| 27 |
Diffuse skull base/cervical fusion syndromes in two siblings with spondylocostal dysostosis syndrome: analysis via three dimensional computed tomography scanning. ( 18520929
)
|
Al Kaissi A....Grill F.
|
2008 |
| 28 |
Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p. ( 18627039
)
|
Coman D....Amor D.J.
|
2008 |
| 29 |
Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. ( 18775957
)
|
Sparrow D.B....Dunwoodie S.L.
|
2008 |
| 30 |
Spondylocostal dysostosis associated with diaphragmatic hernia and neural tube defects. ( 18388793
)
|
Cetinkaya M....YalAsinkaya U.
|
2008 |
| 31 |
Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome? ( 17056308
)
|
Thauvin-Robinet C....Faivre L.
|
2007 |
| 32 |
Prenatal diagnosis of spondylocostal dysostosis with 3-dimensional ultrasonography. ( 16567446
)
|
Sallout B.I....Pretorius D.H.
|
2006 |
| 33 |
Three-dimensional ultrasound findings of spondylocostal dysostosis in the second trimester of pregnancy. ( 16619382
)
|
Wong G.Y....Ng W.F.
|
2006 |
| 34 |
Spine and rib abnormalities and stature in spondylocostal dysostosis. ( 16582839
)
|
Takikawa K....Ikegawa S.
|
2006 |
| 35 |
Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. ( 16385447
)
|
Sparrow D.B....Dunwoodie S.L.
|
2006 |
| 36 |
A thoracic myelomeningocele in a patient with spondylocostal dysostosis. Case report. ( 16509479
)
|
Yi S....Lee S.W.
|
2006 |
| 37 |
Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations. ( 15200511
)
|
Whittock N.V....Turnpenny P.D.
|
2004 |
| 38 |
Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means. ( 15223937
)
|
Teli M....Noordeen H.
|
2004 |
| 39 |
[Spondylocostal dysostosis: a rare genetic disease]. ( 15562550
)
|
Beine O....Muller C.H.
|
2004 |
| 40 |
Mutated MESP2 causes spondylocostal dysostosis in humans. ( 15122512
)
|
Whittock N.V....Turnpenny P.D.
|
2004 |
| 41 |
Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis. ( 12746394
)
|
Turnpenny P.D....Ellard S.
|
2003 |
| 42 |
Association of spondylocostal dysostosis and type I split cord malformation. ( 14600825
)
|
Etus V....Ceylan S.
|
2003 |
| 43 |
Molecular genetic prenatal diagnosis for a case of autosomal recessive spondylocostal dysostosis. ( 12868087
)
|
Whittock N.V....Ellard S.
|
2003 |
| 44 |
A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. ( 12791036
)
|
BonafAc L....Superti-Furga A.
|
2003 |
| 45 |
Chest-wall reconstruction in spondylocostal dysostosis: rare use of a latissimus dorsi flap. ( 12142673
)
|
Hosalkar H....Yagnik M.G.
|
2002 |
| 46 |
Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system. ( 11118901
)
|
Kusumi K....Krumlauf R.
|
2001 |
| 47 |
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. ( 10742114
)
|
Bulman M.P....Turnpenny P.D.
|
2000 |
| 48 |
Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester. ( 10204217
)
|
Lam Y.H....Nicholls J.M.
|
1999 |
| 49 |
A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. ( 10364530
)
|
Turnpenny P.D....Ellard S.
|
1999 |
| 50 |
A case of spondylocostal dysostosis with a fra (5) (q32). ( 9433158
)
|
Satar M....Demirhan O.
|
1997 |
