Lachman RS - Search Results

1

Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder.

Mortier GR, Weis M, Nuytinck L, King LM, Wilkin DJ, De Paepe A, Lachman RS, Rimoin DL, Eyre DR, Cohn DH. Mortier GR, et al. Among authors: lachman rs. J Med Genet. 2000 Apr;37(4):263-71. doi: 10.1136/jmg.37.4.263. J Med Genet. 2000. PMID: 10745044 Free PMC article.

2

Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type.

Tiller GE, Polumbo PA, Weis MA, Bogaert R, Lachman RS, Cohn DH, Rimoin DL, Eyre DR. Tiller GE, et al. Among authors: lachman rs. Nat Genet. 1995 Sep;11(1):87-9. doi: 10.1038/ng0995-87. Nat Genet. 1995. PMID: 7550321

3

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: lachman rs. Am J Med Genet. 1999 Jul 16;85(2):105-12. Am J Med Genet. 1999. PMID: 10406661

4

Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.

Unger S, Korkko J, Krakow D, Lachman RS, Rimoin DL, Cohn DH. Unger S, et al. Among authors: lachman rs. Am J Med Genet. 2001 Nov 22;104(2):140-6. doi: 10.1002/ajmg.10062. Am J Med Genet. 2001. PMID: 11746045

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: 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

6

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

Weinstein MM, Kang T, Lachman RS, Bamshad M, Nickerson DA, Krakow D, Cohn DH. Weinstein MM, et al. Among authors: lachman rs. Am J Med Genet A. 2016 Dec;170(12):3298-3302. doi: 10.1002/ajmg.a.37942. Epub 2016 Aug 17. Am J Med Genet A. 2016. PMID: 27530454 Free PMC article.

7

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.

8

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

9

Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.

Bogaert R, Wilkin D, Wilcox WR, Lachman R, Rimoin D, Cohn DH, Eyre DR. Bogaert R, et al. Am J Hum Genet. 1994 Dec;55(6):1128-36. Am J Hum Genet. 1994. PMID: 7977371 Free PMC article.

10

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

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