Lachman RS - Search Results

1

Multiple vertebral segmentation defects: analysis of 26 new patients and review of the literature.

Mortier GR, Lachman RS, Bocian M, Rimoin DL. Mortier GR, et al. Among authors: lachman rs. Am J Med Genet. 1996 Feb 2;61(4):310-9. doi: 10.1002/(SICI)1096-8628(19960202)61:4<310::AID-AJMG3>3.0.CO;2-Y. Am J Med Genet. 1996. PMID: 8834041 Review.

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

Brachyolmia: radiographic and genetic evidence of heterogeneity.

Shohat M, Lachman R, Gruber HE, Rimoin DL. Shohat M, et al. Am J Med Genet. 1989 Jun;33(2):209-19. doi: 10.1002/ajmg.1320330214. Am J Med Genet. 1989. PMID: 2669482 Review.

4

Achondroplasia with ankylosing spondylitis.

Randolph LM, Shohat M, Miller D, Lachman R, Rimoin DL. Randolph LM, et al. Am J Med Genet. 1988 Sep;31(1):117-21. doi: 10.1002/ajmg.1320310113. Am J Med Genet. 1988. PMID: 3223492

5

Hearing loss and temporal bone structure in achondroplasia.

Shohat M, Flaum E, Cobb SR, Lachman R, Rubin C, Ash C, Rimoin DL. Shohat M, et al. Am J Med Genet. 1993 Mar 1;45(5):548-51. doi: 10.1002/ajmg.1320450504. Am J Med Genet. 1993. PMID: 8456822

6

New epiphyseal stippling syndrome with osteoclastic hyperplasia.

Shohat M, Rimoin DL, Gruber HE, Lachman R. Shohat M, et al. Am J Med Genet. 1993 Mar 1;45(5):558-61. doi: 10.1002/ajmg.1320450506. Am J Med Genet. 1993. PMID: 8456823

7

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

8

Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.

Graham JM Jr, Braddock SR, Mortier GR, Lachman R, Van Dop C, Jabs EW. Graham JM Jr, et al. Am J Med Genet. 1998 May 26;77(4):322-9. doi: 10.1002/(sici)1096-8628(19980526)77:4<322::aid-ajmg14>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9600744

9

Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.

Stern HJ, Graham JM Jr, Lachman RS, Horton W, Bernini PM, Spiegel PK, Bodurtha J, Ives EJ, Bocian M, Rimoin DL. Stern HJ, et al. Among authors: lachman rs. Am J Med Genet. 1990 Jun;36(2):183-95. doi: 10.1002/ajmg.1320360212. Am J Med Genet. 1990. PMID: 2368807

10

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH. Briggs MD, et al. Among authors: lachman rs. Am J Hum Genet. 1998 Feb;62(2):311-9. doi: 10.1086/301713. Am J Hum Genet. 1998. PMID: 9463320 Free PMC article.

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