Lachman RS - Search Results

1

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: lachman rs. 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

2

Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.

Elliott AM, Gonzales M, Hoeffel JC, Le Merrer M, Maroteaux P, Encha-Razavi F, Joye N, Berchel C, Fliegel C, Aughton DJ, Beaudry-Rodgers K, Hasteh F, Nerlich AG, Wilcox WR, Rimoin DL, Lachman RS, Freisinger P. Elliott AM, et al. Among authors: lachman rs. Am J Med Genet. 2002 Apr 22;109(2):139-48. doi: 10.1002/ajmg.10324. Am J Med Genet. 2002. PMID: 11977163

3

Hand involvement in Schmid metaphyseal chondrodysplasia.

Elliott AM, Field FM, Rimoin DL, Lachman RS. Elliott AM, et al. Among authors: lachman rs. Am J Med Genet A. 2005 Jan 15;132A(2):191-3. doi: 10.1002/ajmg.a.30433. Am J Med Genet A. 2005. PMID: 15578582

4

Lethal syndrome of skeletal dysplasia and progressive central nervous system degeneration.

Khosravi M, Weaver DD, Bull MJ, Lachman R, Rimoin DL. Khosravi M, et al. Am J Med Genet. 1998 Apr 28;77(1):63-71. Am J Med Genet. 1998. PMID: 9557897

5

Gracile bone dysplasia.

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

6

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: lachman rs. Am J Med Genet. 2002 Dec 15;113(4):351-61. doi: 10.1002/ajmg.b.10656. Am J Med Genet. 2002. PMID: 12457407

7

A distinctive type of metaphyseal chondrodysplasia with characteristic thickening of the distal ulna and radius: possible metaphyseal chondrodysplasia-Rosenberg.

Lee YS, Elliott AM, Loke KY, Lachman RS. Lee YS, et al. Among authors: lachman rs. Am J Med Genet A. 2003 May 15;119A(1):50-6. doi: 10.1002/ajmg.a.20074. Am J Med Genet A. 2003. PMID: 12707959

8

Occipital projections in the skeletal dysplasias.

Takamine Y, Lachman RS, Field FM, Rimoin DL. Takamine Y, et al. Among authors: lachman rs. Pediatr Radiol. 2004 Jul;34(7):530-4. doi: 10.1007/s00247-004-1191-y. Epub 2004 Apr 24. Pediatr Radiol. 2004. PMID: 15107965

9

Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.

Wallace SE, Lachman RS, Mekikian PB, Bui KK, Wilcox WR. Wallace SE, et al. Among authors: lachman rs. Am J Med Genet A. 2004 Sep 1;129A(3):235-47. doi: 10.1002/ajmg.a.30148. Am J Med Genet A. 2004. PMID: 15326622

10

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: lachman rs. 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.

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