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Items: 1 to 20 of 100

1.

Spondylocostal dysostosis associated with methylmalonic aciduria.

Honjo RS, Casella EB, Vieira MA, Bertola DR, Albano LM, Oliveira LA, Nomachi S, Hanai J, Benoist JF, Ellard S, Young E, Kim CA.

Genet Test Mol Biomarkers. 2009 Apr;13(2):181-3. doi: 10.1089/gtmb.2008.0069.

PMID:
19371216
2.

Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB).

Hörster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, Hoffmann GF, Garbade SF, Kölker S, Baumgartner ER.

Pediatr Res. 2007 Aug;62(2):225-30.

PMID:
17597648
3.

Spondylocostal dysostosis: dominant type.

Lorenz P, Rupprecht E.

Am J Med Genet. 1990 Feb;35(2):219-21.

PMID:
2309760
4.

A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria.

Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M.

Hum Mutat. 2006 Jul;27(7):640-3.

PMID:
16752391
5.

Identical twins with an autosomal recessive form of spondylocostal dysostosis.

Satar M, Kozanoglu MN, Atilla E.

Clin Genet. 1992 Jun;41(6):290-2.

PMID:
1623623
6.

New dysostosis showing multilevel absence of vertebral pedicles: unique developmental anomaly of vertebral arches?

Verloes A, Muller C, Philippet P.

Am J Med Genet. 2000 Dec 18;95(5):473-6.

PMID:
11146469
7.

Pseudodominant inheritance of spondylocostal dysostosis type 1 caused by two familial delta-like 3 mutations.

Whittock NV, Ellard S, Duncan J, de Die-Smulders CE, Vles JS, Turnpenny PD.

Clin Genet. 2004 Jul;66(1):67-72.

PMID:
15200511
8.

Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China.

Song YZ, Li BX, Hao H, Xin RL, Zhang T, Zhang CH, Kobayashi K, Wang ZN, Zheng XY.

Clin Biochem. 2008 May;41(7-8):616-20. doi: 10.1016/j.clinbiochem.2008.01.025.

PMID:
18291102
9.

Autosomal dominant spondylocostal dysostosis in three generations of a Macedonian family: Negative mutation analysis of DLL3, MESP2, HES7, and LFNG.

Gucev ZS, Tasic V, Pop-Jordanova N, Sparrow DB, Dunwoodie SL, Ellard S, Young E, Turnpenny PD.

Am J Med Genet A. 2010 Jun;152A(6):1378-82. doi: 10.1002/ajmg.a.33471.

PMID:
20503311
10.

Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up.

Haarmann A, Mayr M, Kölker S, Baumgartner ER, Schnierda J, Hopfer H, Devuyst O, Baumgartner MR.

Mol Genet Metab. 2013 Dec;110(4):472-6. doi: 10.1016/j.ymgme.2013.08.021.

PMID:
24095221
11.

Spondylothoracic and spondylocostal dysostosis. Hereditary forms of spinal deformity.

Roberts AP, Conner AN, Tolmie JL, Connor JM.

J Bone Joint Surg Br. 1988 Jan;70(1):123-6.

12.

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.

Miousse IR, Watkins D, Coelho D, Rupar T, Crombez EA, Vilain E, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS.

J Pediatr. 2009 Apr;154(4):551-6. doi: 10.1016/j.jpeds.2008.10.043.

PMID:
19058814
13.

Spine and rib abnormalities and stature in spondylocostal dysostosis.

Takikawa K, Haga N, Maruyama T, Nakatomi A, Kondoh T, Makita Y, Hata A, Kawabata H, Ikegawa S.

Spine (Phila Pa 1976). 2006 Apr 1;31(7):E192-7.

PMID:
16582839
14.

[Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].

Liu YP, Ma YY, Wu TF, Wang Q, Li XY, Ding Y, Song JQ, Huang Y, Yang YL.

Zhonghua Er Ke Za Zhi. 2012 Jun;50(6):410-4. Chinese.

PMID:
22931934
15.

[Spondylocostal dysostosis: a rare genetic disease].

Beine O, Bolland J, Verloes A, Lebrun FR, Khamis J, Muller Ch.

Rev Med Liege. 2004 Sep;59(9):513-6. Review. French.

PMID:
15562550
16.

Monozygotic twins discordant for spondylocostal dysostosis.

Van Thienen MN, Van der Auwera BJ.

Am J Med Genet. 1994 Oct 1;52(4):483-6.

PMID:
7747763
17.

Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.

Dobson CM, Gradinger A, Longo N, Wu X, Leclerc D, Lerner-Ellis J, Lemieux M, Belair C, Watkins D, Rosenblatt DS, Gravel RA.

Mol Genet Metab. 2006 Aug;88(4):327-33.

PMID:
16697227
18.

Prenatal sonographic features of spondylocostal dysostosis and diaphragmatic hernia in the first trimester.

Lam YH, Eik-Nes SH, Tang MH, Lee CP, Nicholls JM.

Ultrasound Obstet Gynecol. 1999 Mar;13(3):213-5.

19.

[Spondylocostal dysostosis].

Bonora G, Baronciani D, Gargantini G, Dalprà L.

Pediatr Med Chir. 1985 Nov-Dec;7(6):843-5. Italian.

PMID:
3837253
20.

A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S.

Am J Hum Genet. 1999 Jul;65(1):175-82.

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