Lachman RS - Search Results

1

Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.

Savarirayan R, White SM, Goodman FR, Graham JM Jr, Delatycki MB, Lachman RS, Rimoin DL, Everman DB, Warman ML. Savarirayan R, et al. Among authors: lachman rs. Am J Med Genet A. 2003 Mar 1;117A(2):136-42. doi: 10.1002/ajmg.a.10924. Am J Med Genet A. 2003. PMID: 12567410

2

New mesomelic dysplasia with absent fibulae and triangular tibiae.

Savarirayan R, Cormier-Daire V, Curry CJ, Nashelsky MB, Rappaport V, Rimoin DL, Lachman RS. Savarirayan R, et al. Among authors: lachman rs. Am J Med Genet. 2000 Sep 4;94(1):59-63. doi: 10.1002/1096-8628(20000904)94:1<59::aid-ajmg12>3.0.co;2-2. Am J Med Genet. 2000. PMID: 10982484

3

Nosology and classification of genetic skeletal disorders: 2010 revision.

Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A. Warman ML, et al. Am J Med Genet A. 2011 May;155A(5):943-68. doi: 10.1002/ajmg.a.33909. Epub 2011 Mar 15. Am J Med Genet A. 2011. PMID: 21438135 Free PMC article. Review.

4

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

5

van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers.

Schweitzer DN, Lachman RS, Pressman BD, Graham JM Jr. Schweitzer DN, et al. Among authors: lachman rs. Am J Med Genet A. 2003 Apr 30;118A(3):267-73. doi: 10.1002/ajmg.a.10143. Am J Med Genet A. 2003. PMID: 12673658

6

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

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: 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.

8

Brachydactyly-short stature-hypertension (Bilginturan) syndrome: report on two families.

Chitayat D, Grix A, Balfe JW, Abramowicz JS, Garza J, Fong CT, Silver MM, Saller DN Jr, Bresnick GH, Giedion A, Lachman RS, Rimoin DL. Chitayat D, et al. Among authors: lachman rs. Am J Med Genet. 1997 Dec 19;73(3):279-85. doi: 10.1002/(sici)1096-8628(19971219)73:3<279::aid-ajmg10>3.0.co;2-g. Am J Med Genet. 1997. PMID: 9415685

9

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

10

Nosology and classification of genetic skeletal disorders: 2015 revision.

Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, Nishimura G, Sangiorgi L, Savarirayan R, Sillence D, Spranger J, Superti-Furga A, Warman M, Unger S. Bonafe L, et al. Am J Med Genet A. 2015 Dec;167A(12):2869-92. doi: 10.1002/ajmg.a.37365. Epub 2015 Sep 23. Am J Med Genet A. 2015. PMID: 26394607

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