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Items: 13

Select item 70358561.

Anaesthetic management of a parturient with spondylothoracic dysostosis

Reine Zbeidy, Nathalia Torres Buendia, Fouad G Souki

BMJ Case Rep. 2020; 13(1): e232964. Published online 2020 Jan 23. doi: 10.1136/bcr-2019-232964

PMCID:: PMC7035856

Article PDF–655K

Select item 24272302.

Mutations in the MESP2 Gene Cause Spondylothoracic Dysostosis/Jarcho-Levin Syndrome

Alberto S. Cornier, Karen Staehling-Hampton, Kym M. Delventhal, Yumiko Saga, Jean-Francois Caubet, Nobuo Sasaki, Sian Ellard, Elizabeth Young, Norman Ramirez, Simon E. Carlo, Jose Torres, John B. Emans, Peter D. Turnpenny, Olivier Pourquié

Am J Hum Genet. 2008 Jun 6; 82(6): 1334–1341. Published online 2008 May 30. doi: 10.1016/j.ajhg.2008.04.014

PMCID:: PMC2427230

Article PDF–911K

Select item 10516393.

Congenital heart disease in spondylothoracic dysostosis: two familial cases.

J M Simpson, A Cook, N L Fagg, N A MacLachlan, G K Sharland

J Med Genet. 1995 Aug; 32(8): 633–635. doi: 10.1136/jmg.32.8.633

PMCID:: PMC1051639

Summary Page Browse PDF–812K

Select item 45012544.

Notch Signaling In Skeletal Health and Disease

Stefano Zanotti, Ernesto Canalis

Eur J Endocrinol. Author manuscript; available in PMC 2015 Jul 14.

Published in final edited form as: Eur J Endocrinol. 2013 Jun; 168(6): R95–103. Published online 2013 May 8. doi: 10.1530/EJE-13-0115

PMCID:: PMC4501254

Article PDF–233K

Select item 30538745.

Jarcho-Levin syndrome--a report of an autopsy case with cytogenetic analysis.

Y. Park, G. Gong, G. Choe, E. Yu, K. S. Kim, I. Lee

J Korean Med Sci. 1993 Dec; 8(6): 471–475. doi: 10.3346/jkms.1993.8.6.471

PMCID:: PMC3053874

Summary PDF–43M

Select item 29873496.

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis

Duncan B Sparrow, David Sillence, Merridee A Wouters, Peter D Turnpenny, Sally L Dunwoodie

Eur J Hum Genet. 2010 Jun; 18(6): 674–679. Published online 2010 Jan 20. doi: 10.1038/ejhg.2009.241

PMCID:: PMC2987349

Article PDF–430K

Select item 44890557.

Spondylocostal dysostosis (Jarcho-Levine syndrome) associated with occult spinal dysraphism: Report of two cases

Natarajan Muthukumar

J Pediatr Neurosci. 2015 Apr-Jun; 10(2): 127–132. doi: 10.4103/1817-1745.159204

PMCID:: PMC4489055

Article

Select item 36387778.

Clinical, Genetic and Environmental Factors Associated with Congenital Vertebral Malformations

P.F. Giampietro, C.L. Raggio, R.D. Blank, C. McCarty, U. Broeckel, M.A. Pickart

Mol Syndromol. 2013 Feb; 4(1-2): 94–105. Published online 2012 Nov 15. doi: 10.1159/000345329

PMCID:: PMC3638777

Article PDF–281K

Select item 32964129.

Jarcho–Levin syndrome with diastematomyelia: A case report and review of literature

Ritesh Kansal, Amit Mahore, Sanjay Kukreja

J Pediatr Neurosci. 2011 Jul-Dec; 6(2): 141–143. doi: 10.4103/1817-1745.92843

PMCID:: PMC3296412

Article

Select item 431991610.

Canine Disorder Mirrors Human Disease: Exonic Deletion in HES7 Causes Autosomal Recessive Spondylocostal Dysostosis in Miniature Schnauzer Dogs

Cali E. Willet, Mariano Makara, George Reppas, George Tsoukalas, Richard Malik, Bianca Haase, Claire M. Wade

PLoS One. 2015; 10(2): e0117055. Published online 2015 Feb 6. doi: 10.1371/journal.pone.0117055

PMCID:: PMC4319916

Article PDF–4.9M

Select item 1047388911.

TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome

Guozhuang Li, Alanna Strong, Haojun Wang, Ji-Sun Kim, Deborah Watson, Sen Zhao, Courtney Vaccaro, Erum Hartung, Hakon Hakonarson, Terry Jianguo Zhang, Philip F. Giampietro, Nan Wu

Am J Med Genet A. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: Am J Med Genet A. 2022 Dec; 188(12): 3469–3481. Published online 2022 Sep 26. doi: 10.1002/ajmg.a.62972