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Items: 1 to 20 of 121

1.

Axial spondylometaphyseal dysplasia: additional reports.

Suzuki S, Kim OH, Makita Y, Saito T, Lim GY, Cho TJ, Al-Swaid A, Alrasheed S, Sadoon E, Miyazaki O, Nishina S, Superti-Furga A, Unger S, Fujieda K, Ikegawa S, Nishimura G.

Am J Med Genet A. 2011 Oct;155A(10):2521-8. doi: 10.1002/ajmg.a.34192. Epub 2011 Sep 9.

PMID:
21910225
2.

Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy.

Isidor B, Baron S, Khau van Kien P, Bertrand AM, David A, Le Merrer M.

Am J Med Genet A. 2010 Jun;152A(6):1550-4. doi: 10.1002/ajmg.a.33397.

PMID:
20503334
3.

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

Wang Z, Iida A, Miyake N, Nishiguchi KM, Fujita K, Nakazawa T, Alswaid A, Albalwi MA, Kim OH, Cho TJ, Lim GY, Isidor B, David A, Rustad CF, Merckoll E, Westvik J, Stattin EL, Grigelioniene G, Kou I, Nakajima M, Ohashi H, Smithson S, Matsumoto N, Nishimura G, Ikegawa S.

PLoS One. 2016 Mar 14;11(3):e0150555. doi: 10.1371/journal.pone.0150555. eCollection 2016.

4.

Axial spondylometaphyseal dysplasia.

Ehara S, Kim OH, Maisawa S, Takasago Y, Nishimura G.

Eur J Pediatr. 1997 Aug;156(8):627-30.

PMID:
9266195
5.

Spondylometaphyseal dysplasia with cone-rod dystrophy.

Kitoh H, Kaneko H, Kondo M, Yamamoto T, Ishiguro N, Nishimura G.

Am J Med Genet A. 2011 Apr;155A(4):845-9. doi: 10.1002/ajmg.a.33898. Epub 2011 Mar 15.

PMID:
21412974
6.

[Autosomal recessive spondylometaphyseal dysplasia. Apropos of 3 familial cases].

Meziane AO, Meziane A, Ksiyer M, Bennani-Smires C, Khalifa HH.

Ann Genet. 1987;30(4):216-20. French.

PMID:
3501265
7.

A second family with autosomal recessive spondylometaphyseal dysplasia and early death.

Mégarbané A, Mehawej C, El Zahr A, Haddad S, Cormier-Daire V.

Am J Med Genet A. 2014 Apr;164A(4):1010-4. doi: 10.1002/ajmg.a.36372. Epub 2014 Jan 23.

PMID:
24458487
8.

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.

Yamamoto GL, Baratela WA, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LA, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR.

Am J Hum Genet. 2014 Jan 2;94(1):113-9. doi: 10.1016/j.ajhg.2013.11.022.

9.

Radiological evolution in IMAGe association: a case report.

Amano N, Naoaki H, Ishii T, Narumi S, Hachiya R, Nishimura G, Hasegawa T.

Am J Med Genet A. 2008 Aug 15;146A(16):2130-3. doi: 10.1002/ajmg.a.32425.

PMID:
18627061
10.

Spondylar dysplasia in type X collagenopathy.

Nishimura G, Manabe N, Kosaki K, Haga N, Ohashi H, Nakamura K, Ikegawa S.

Pediatr Radiol. 2001 Feb;31(2):76-80.

PMID:
11214689
11.

Clinical and radiographic delineation of odontochondrodysplasia.

Unger S, Antoniazzi F, Brugnara M, Alanay Y, Caglayan A, Lachlan K, Ikegawa S, Nishimura G, Zabel B, Spranger J, Superti-Furga A.

Am J Med Genet A. 2008 Mar 15;146A(6):770-8. doi: 10.1002/ajmg.a.32214.

PMID:
18241073
12.

Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects.

Nishimura G, Kizu R, Kijima Y, Sakai K, Kawaguchi Y, Kimura T, Matsushita I, Shirahama S, Ikeda T, Ikegawa S, Hasegawa T.

Am J Med Genet A. 2003 Aug 1;120A(4):498-502.

PMID:
12884428
13.

A multiplex family with possible metaphyseal Spahr-type dysplasia and exclusion of RMRP and COL10A1 as candidate genes.

Mégarbané A, Chouery E, Ghanem I.

Am J Med Genet A. 2008 Jul 15;146A(14):1865-70. doi: 10.1002/ajmg.a.32390.

PMID:
18553549
14.

Spondylometaphyseal dysplasia with cone-rod dystrophy.

Turell M, Morrison S, Traboulsi EI.

Ophthalmic Genet. 2010 Mar;31(1):12-7. doi: 10.3109/13816810903397812.

PMID:
20141353
15.

Further delineation of spondylometaphyseal dysplasia with cone-rod dystrophy.

Sousa SB, Russell-Eggitt I, Hall C, Hall BD, Hennekam RC.

Am J Med Genet A. 2008 Dec 15;146A(24):3186-94. doi: 10.1002/ajmg.a.32576.

PMID:
19012331
16.

A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia.

Kulkarni ML, Baskar K, Kulkarni PM.

Am J Med Genet A. 2007 Jan 1;143A(1):69-75.

PMID:
17163538
17.

Autosomal recessive omodysplasia: report of three additional cases.

Masel JP, Kozlowski K, Kiss P.

Pediatr Radiol. 1998 Aug;28(8):608-11.

PMID:
9716634
18.

A female case of Sedaghatian type spondylometaphyseal dysplasia.

Foulds N, Fairhurst J, Temple IK, Cade S, Groves C, Lancaster T.

Am J Med Genet A. 2003 May 1;118A(4):377-81.

PMID:
12687672
19.

Spondylometaphyseal dysplasia, Sedaghatian type.

Peeden JN Jr, Rimoin DL, Lachman RS, Dyer ML, Gerard D, Gruber HE.

Am J Med Genet. 1992 Nov 15;44(5):651-6.

PMID:
1481828
20.

Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.

Machol K, Jain M, Almannai M, Orand T, Lu JT, Tran A, Chen Y, Schlesinger A, Gibbs R, Bonafe L, Campos-Xavier AB, Unger S, Superti-Furga A, Lee BH, Campeau PM, Burrage LC.

Am J Med Genet A. 2017 Mar;173(3):733-739. doi: 10.1002/ajmg.a.38059. Epub 2016 Nov 26.

PMID:
27888646

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