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Results: 1 to 20 of 145

Similar articles for PubMed (Select 7977470)

1.

Desbuquois syndrome: clinical, radiographic, and morphologic characterization.

Shohat M, Lachman R, Gruber HE, Hsia YE, Golbus MS, Witt DR, Bodell A, Bryke CR, Hogge WA, Rimoin DL.

Am J Med Genet. 1994 Aug 1;52(1):9-18.

PMID:
7977470
2.

Desbuquois syndrome.

Le Merrer M, Young ID, Stanescu V, Maroteaux P.

Eur J Pediatr. 1991 Sep;150(11):793-6.

PMID:
1959544
3.

Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations.

Faivre L, Cormier-Daire V, Eliott AM, Field F, Munnich A, Maroteaux P, Le Merrer M, Lachman R.

Am J Med Genet A. 2004 Jan 1;124A(1):48-53.

PMID:
14679586
4.

Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II.

Brodie SG, Lachman RS, Crandall BF, Fox MA, Rimoin DL, Cohn DH, Wilcox WR.

Am J Med Genet. 1998 Nov 16;80(3):247-51.

PMID:
9843047
5.

Achondrogenesis II-hypochondrogenesis: variability versus heterogeneity.

Borochowitz Z, Ornoy A, Lachman R, Rimoin DL.

Am J Med Genet. 1986 Jun;24(2):273-88.

PMID:
3717210
6.

An unknown spondylo-meta-epiphyseal dysplasia in sibs with extreme short stature.

Menger H, Mundlos S, Becker K, Spranger J, Zabel B.

Am J Med Genet. 1996 May 3;63(1):80-3.

PMID:
8723091
7.

A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.

Kim OH, Nishimura G, Song HR, Matsui Y, Sakazume S, Yamada M, Narumi Y, Alanay Y, Unger S, Cho TJ, Park SS, Ikegawa S, Meinecke P, Superti-Furga A.

Am J Med Genet A. 2010 Apr;152A(4):875-85. doi: 10.1002/ajmg.a.33347.

PMID:
20358597
8.

Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings.

Shohat M, Rimoin DL, Gruber HE, Lachman RS.

Pediatr Radiol. 1991;21(6):421-7.

PMID:
1749675
9.

Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (Greenberg dysplasia): prenatal diagnosis and further delineation of a rare genetic disorder.

Chitayat D, Gruber H, Mullen BJ, Pauzner D, Costa T, Lachman R, Rimoin DL.

Am J Med Genet. 1993 Aug 15;47(2):272-7. Review.

PMID:
8213919
10.

Clinical, radiographic, pathologic, and genetic features of osteochondrodysplasia in Scottish deerhounds.

Breur GJ, Zerbe CA, Slocombe RF, Padgett GA, Braden TD.

J Am Vet Med Assoc. 1989 Sep 1;195(5):606-12.

PMID:
2777707
11.

Lethal osteosclerotic osteochondrodysplasia with platyspondyly, metaphyseal widening, and intracellular inclusions in sibs.

Brodie SG, Lachman RS, Jewell AF, Winkler CL, Nolasco L, Wilcox WR.

Am J Med Genet. 1998 Dec 4;80(4):423-8.

PMID:
9856576
12.

Desbuquois syndrome in three sisters with significantly different lengths of survival.

Lloyd AR, Ragosta KG, Bryke CR, Hoo JJ.

Am J Med Genet A. 2006 Jun 1;140(11):1253-5. No abstract available.

PMID:
16642505
13.

Desbuquois syndrome in an Arab Bedouin family.

al-Gazeli LI, Aziz SA, Bakalinova D.

Clin Genet. 1996 Oct;50(4):255-9. Review.

PMID:
9001812
14.

Metatropic dwarfism, the Kniest syndrome and the pseudoachondroplastic dysplasias.

Rimoin DL, Siggers DC, Lachman RS, Silberberg R.

Clin Orthop Relat Res. 1976 Jan-Feb;(114):70-82.

PMID:
177239
15.

Morphological changes of epiphyseal plate in the long bone of chondrodysplastic dwarfism in Japanese brown cattle.

Moritomo Y, Ishibashi T, Miyamoto H.

J Vet Med Sci. 1992 Jun;54(3):453-9.

PMID:
1643169
17.

Clinical and genetic heterogeneity in Desbuquois dysplasia.

Faivre L, Le Merrer M, Zerres K, Ben Hariz M, Scheffer D, Young ID, Maroteaux P, Munnich A, Cormier-Daire V.

Am J Med Genet A. 2004 Jul 1;128A(1):29-32.

PMID:
15211652
18.

Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies.

Brodie SG, Lachman RS, McGovern MM, Mekikian PB, Wilcox WR.

Am J Med Genet. 1999 Apr 23;83(5):372-7.

PMID:
10232746
19.

Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia): morphological findings in the growth plate of the iliac crest.

Nakamura K, Kurokawa T, Nagano A, Nakamura S, Taniguchi K, Hamazaki M.

Am J Med Genet. 1997 Oct 3;72(1):11-7.

PMID:
9295067
20.

Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic or Hall type: report of a case with normal face and literature review.

Sulko J, Kozlowski K.

J Pediatr Orthop B. 2008 Nov;17(6):323-7. doi: 10.1097/BPB.0b013e328311d357.

PMID:
18841068
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