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Items: 1 to 20 of 100

1.

Acromesomelic dysplasia of the Maroteaux type.

Banapurmath CR, Patil M, Guruprasad G, Kesaree N.

Indian J Pediatr. 1990 Nov-Dec;57(6):803-5. No abstract available.

PMID:
2131316
3.

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
4.

Peripheral dysplasia. Report of a new genetic syndrome.

Bacha L, Brachimi L, Kozlowski K, Massen R, Morris L.

Pediatr Radiol. 1989;19(3):193-8.

PMID:
2717253
5.

Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.

Kant SG, Polinkovsky A, Mundlos S, Zabel B, Thomeer RT, Zonderland HM, Shih L, van Haeringen A, Warman ML.

Am J Hum Genet. 1998 Jul;63(1):155-62.

6.

A rare genetic disease - spondyloepiphyseal dysplasia.

Yang B, Lin J, Jin J, Weng XS, Zhao Q, Qiu GX.

Chin Med J (Engl). 2010 Oct;123(19):2727-31. No abstract available.

PMID:
21034660
7.

Coexistence of craniovertebral junction stenosis with pancake kidney in an adolescent with acromesomelic dysplasia.

Güven A, Dagcinar A, Ceyhan M.

J Pediatr Endocrinol Metab. 2008 Oct;21(10):941-2. No abstract available.

PMID:
19209615
8.

[Diagnostic image (101). A woman with painful joints. Dysplasia epiphysealis multiplex].

Westra R, Jansen TL.

Ned Tijdschr Geneeskd. 2002 Aug 17;146(33):1538. Dutch.

PMID:
12212500
9.

Acromesomelic dysplasia associated with mild lumbar spine stenosis.

Haliloglu M, Ozen H, Kocak N, Unsal M.

Eur Radiol. 1999;9(1):103-4.

PMID:
9933391
10.

Spondyloepiphyseal dysplasia of Maroteaux.

Doman AN, Maroteaux P, Lyne ED.

J Bone Joint Surg Am. 1990 Oct;72(9):1364-9.

PMID:
2229114
11.

Dyssegmental dysplasia with glaucoma.

Maroteaux P, Manouvrier S, Bonaventure J, Le Merrer M.

Am J Med Genet. 1996 May 3;63(1):46-9.

PMID:
8723085
12.

Acromesomelic-spondyloepiphyseal dysplasia associated with congenital optic atrophy: report of a family.

Sener RN, Ustun EE, Ozkinay C, Memis A, Oyar O.

Pediatr Radiol. 1993;23(4):321-4.

PMID:
8414767
13.

Tricho-rhino-phalangeal syndrome type-1.

Madhulika, Suri M, Singh G.

Indian J Pediatr. 1993 Mar-Apr;60(2):315-6. No abstract available.

PMID:
8244510
14.

Diastrophic dysplasia diagnosed in a case published 100 years ago.

Lapunzina P, Arberas C, Fernandez MC, Tello AM.

Am J Med Genet. 1998 May 26;77(4):334-6. No abstract available.

PMID:
9600747
15.

Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A.

Am J Med Genet A. 2010 Jun;152A(6):1443-9. doi: 10.1002/ajmg.a.33414.

PMID:
20503319
16.

Spondylo-epiphyseal dysplasia tarda with progressive arthropathy.

Sood S, Gupta AK, Berry M.

Indian Pediatr. 1991 Jun;28(6):671-3. No abstract available.

PMID:
1748519
17.

Congenital hypothyroidism presenting as apparent spondyloepiphyseal dysplasia.

Eberle AJ.

Am J Med Genet. 1993 Sep 15;47(4):464-7.

PMID:
8256805
18.

Acromesomelic dysplasia with bronchiectasis.

Farnaz S, Gothi D, Joshi JM.

Indian J Chest Dis Allied Sci. 2005 Apr-Jun;47(2):131-4.

PMID:
15832960
19.

Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping.

Ianakiev P, Kilpatrick MW, Daly MJ, Zolindaki A, Bagley D, Beighton G, Beighton P, Tsipouras P.

Clin Genet. 2000 Apr;57(4):278-83.

PMID:
10845568
20.

Spondylometaphyseal dysplasia-Sedaghatian type.

Elçioglu N, Hall CM.

Am J Med Genet. 1998 Apr 13;76(5):410-4. Review.

PMID:
9556300

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