Lachman RS - Search Results

1

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

2

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

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

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.

5

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: lachman rs. 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.

6

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

7

Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1.

Vatanavicharn N, Graham JM Jr, Curry CJ, Pepkowitz S, Lachman RS, Rimoin DL, Wilcox WR. Vatanavicharn N, et al. Among authors: lachman rs. Am J Med Genet A. 2007 Oct 1;143A(19):2292-302. doi: 10.1002/ajmg.a.31934. Am J Med Genet A. 2007. PMID: 17764081

8

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

Vatanavicharn N, Lachman RS, Rimoin DL. Vatanavicharn N, et al. Among authors: lachman rs. 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

9

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias.

Krakow D, Lachman RS, Rimoin DL. Krakow D, et al. Among authors: lachman rs. Genet Med. 2009 Feb;11(2):127-33. doi: 10.1097/GIM.0b013e3181971ccb. Genet Med. 2009. PMID: 19265753 Free PMC article.

10

Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.

Krakow D, Cohn DH, Wilcox WR, Noh GJ, Raffel LJ, Sarukhanov A, Ivanova MH, Danielpour M, Grange DK, Elliott AM, Bernstein JA, Rimoin DL, Merrill AE, Lachman RS. Krakow D, et al. Among authors: lachman rs. Am J Med Genet A. 2016 Oct;170(10):2652-61. doi: 10.1002/ajmg.a.37772. Epub 2016 May 30. Am J Med Genet A. 2016. PMID: 27240702 Free PMC article.

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