Rimoin DL - Search Results

1

Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.

El-Gharbawy AH, Peeden JN Jr, Lachman RS, Graham JM Jr, Moore SR, Rimoin DL. El-Gharbawy AH, et al. Among authors: rimoin dl. Am J Med Genet A. 2010 Jan;152A(1):169-74. doi: 10.1002/ajmg.a.33146. Am J Med Genet A. 2010. PMID: 20014132 Free PMC article.

2

Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry (1988-2006).

Alanay Y, Krakow D, Rimoin DL, Lachman RS. Alanay Y, et al. Among authors: rimoin dl. Am J Med Genet A. 2007 Jun 1;143A(11):1159-68. doi: 10.1002/ajmg.a.31711. Am J Med Genet A. 2007. PMID: 17486589

3

Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings.

Elliott AM, Graham JM Jr, Curry CJ, Pal T, Rimoin DL, Lachman RS. Elliott AM, et al. Among authors: rimoin dl. Am J Med Genet. 2002 Dec 15;113(4):351-61. doi: 10.1002/ajmg.b.10656. Am J Med Genet. 2002. PMID: 12457407

4

Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005].

Wilcox WR, Wenger DA, Lachman RS, Rimoin DL. Wilcox WR, et al. Among authors: rimoin dl. Am J Med Genet A. 2005 Jun 15;135(3):333. doi: 10.1002/ajmg.a.30717. Am J Med Genet A. 2005. PMID: 15887286 No abstract available.

5

Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.

Vatanavicharn N, Lachman RS, Rimoin DL. Vatanavicharn N, et al. Among authors: rimoin dl. Am J Med Genet A. 2008 Jul 1;146A(13):1682-6. doi: 10.1002/ajmg.a.32313. Am J Med Genet A. 2008. PMID: 18546327

6

Gracile bone dysplasia.

Thomas JA, Rimoin DL, Lachman RS, Wilcox WR. Thomas JA, et al. Among authors: rimoin dl. Am J Med Genet. 1998 Jan 6;75(1):95-100. Am J Med Genet. 1998. PMID: 9450865

7

Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness.

Agarwal VK, Lachman RS, Rimoin DL, Wilcox WR. Agarwal VK, et al. Among authors: rimoin dl. Am J Med Genet A. 2005 Jul 30;136(3):233-41. doi: 10.1002/ajmg.a.30805. Am J Med Genet A. 2005. PMID: 15954110 Review.

8

Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology.

Elliott AM, Wilcox WR, Spear GS, Field FM, Steffensen TS, Friedman BD, Rimoin DL, Lachman RS. Elliott AM, et al. Among authors: rimoin dl. Am J Med Genet A. 2006 Jul 15;140(14):1553-63. doi: 10.1002/ajmg.a.31326. Am J Med Genet A. 2006. PMID: 16770805

9

Spondylometaphyseal dysplasia, Sedaghatian type.

Peeden JN Jr, Rimoin DL, Lachman RS, Dyer ML, Gerard D, Gruber HE. Peeden JN Jr, et al. Among authors: rimoin dl. Am J Med Genet. 1992 Nov 15;44(5):651-6. doi: 10.1002/ajmg.1320440525. Am J Med Genet. 1992. PMID: 1481828

10

Small deletions in the type II collagen triple helix produce kniest dysplasia.

Wilkin DJ, Artz AS, South S, Lachman RS, Rimoin DL, Wilcox WR, McKusick VA, Stratakis CA, Francomano CA, Cohn DH. Wilkin DJ, et al. Among authors: rimoin dl. Am J Med Genet. 1999 Jul 16;85(2):105-12. Am J Med Genet. 1999. PMID: 10406661

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