24 results for author:"Lachman R.S." in Literature citations
Results Customize
› Repeat search in UniProtKB (9)
| Exome sequencing identifies PDE4D mutations in acrodysostosis. Lee H., Graham J.M. Jr., Rimoin D.L., Lachman R.S., Krejci P., Tompson S.W., Nelson S.F., Krakow D., Cohn D.H. Am. J. Hum. Genet. 90:746-751(2012) · Mapped (4) |
| Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. Merrill A.E., Sarukhanov A., Krejci P., Idoni B., Camacho N., Estrada K.D., Lyons K.M., Deixler H., Robinson H., Chitayat D. et al. Am. J. Hum. Genet. 90:550-557(2012) · UniProtKB (1) |
| Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Boyden E.D., Campos-Xavier A.B., Kalamajski S., Cameron T.L., Suarez P., Tanackovic G., Andria G., Ballhausen D., Briggs M.D., Hartley C. et al. Am. J. Hum. Genet. 89:767-772(2011) · UniProtKB (1) · Mapped (7) |
| Association of a p.Pro786Leu variant in COL2A1 with mild spondyloepiphyseal dysplasia congenita in a three-generation family. Mark P.R., Torres-Martinez W., Lachman R.S., Weaver D.D. Am. J. Med. Genet. A 155A:174-179(2011) · Mapped (4) |
| Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Krakow D., Vriens J., Camacho N., Luong P., Deixler H., Funari T.L., Bacino C.A., Irons M.B., Holm I.A., Sadler L. et al. Am. J. Hum. Genet. 84:307-315(2009) · UniProtKB (1) |
| A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. Tompson S.W., Merriman B., Funari V.A., Fresquet M., Lachman R.S., Rimoin D.L., Nelson S.F., Briggs M.D., Cohn D.H., Krakow D. Am. J. Hum. Genet. 84:72-79(2009) · UniProtKB (1) · Mapped (5) |
| Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Rock M.J., Prenen J., Funari V.A., Funari T.L., Merriman B., Nelson S.F., Lachman R.S., Wilcox W.R., Reyno S., Quadrelli R. et al. Nat. Genet. 40:999-1003(2008) · UniProtKB (1) |
| Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1. Vatanavicharn N., Graham J.M. Jr., Curry C.J., Pepkowitz S., Lachman R.S., Rimoin D.L., Wilcox W.R. Am. J. Med. Genet. A 143A:2292-2302(2007) · Mapped (4) |
| The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. Nishimura G., Nakashima E., Hirose Y., Cole T., Cox P., Cohn D.H., Rimoin D.L., Lachman R.S., Miyamoto Y., Kerr B. et al. J. Med. Genet. 44:e73-e73(2007) · Mapped (1) |
| A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. Bicknell L.S., Farrington-Rock C., Shafeghati Y., Rump P., Alanay Y., Alembik Y., Al-Madani N., Firth H., Karimi-Nejad M.H., Kim C.A. et al. |
| Mutations in two regions of FLNB result in atelosteogenesis I and III. Farrington-Rock C., Firestein M.H., Bicknell L.S., Superti-Furga A., Bacino C.A., Cormier-Daire V., Le Merrer M., Baumann C., Roume J., Rump P. et al. Hum. Mutat. 27:705-710(2006) · Mapped (3) |
| Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Krakow D., Robertson S.P., King L.M., Morgan T., Sebald E.T., Bertolotto C., Wachsmann-Hogiu S., Acuna D., Shapiro S.S., Takafuta T. et al. |
| Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. Unger S., Koerkkoe J., Krakow D., Lachman R.S., Rimoin D.L., Cohn D.H. Am. J. Med. Genet. 104:140-146(2001) · UniProtKB (2) |
| 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 G.R., Weis M., Nuytinck L., King L.M., Wilkin D.J., De Paepe A., Lachman R.S., Rimoin D.L., Eyre D.R., Cohn D.H. J. Med. Genet. 37:263-271(2000) · UniProtKB (1) |
| Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia type I. Kitoh H., Brodie S.G., Kupke K.G., Lachman R.S., Wilcox W.R. Hum. Mutat. 12:362-363(1998) · UniProtKB (1) |
| Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations. Brodie S.G., Kitoh H., Lachman R.S., Nolasco L.M., Mekikian P.B., Wilcox W.R. Am. J. Med. Genet. 84:476-480(1999) · UniProtKB (1) |
| Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred. Ahmad M., Haque M.F., Ahmad W., Abbas H., Haque S., Krakow D., Rimoin D.L., Lachman R.S., Cohn D.H. Am. J. Med. Genet. 78:468-473(1998) · UniProtKB (1) |
| Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. Briggs M.D., Mortier G.R., Cole W.G., King L.M., Golik S.S., Bonaventure J., Nuytinck L., de Paepe A., Leroy J.G., Biesecker L. et al. Am. J. Hum. Genet. 62:311-319(1998) · UniProtKB (1) |
| Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia. Bogaert R., Wilkin D.J., Wilcox W.R., Lachman R.S., Rimoin D.L., Cohn D.H., Eyre D.R. Am. J. Hum. Genet. 55:1128-1136(1994) · UniProtKB (1) |
| A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia. Wilkin D.J., Bogaert R., Lachman R.S., Rimoin D.L., Eyres D.R., Cohn D.H. Hum. Mol. Genet. 3:1999-2003(1994) · UniProtKB (1) |
| Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Tavormina P.L., Shiang R., Thompson L.M., Zhu Y.-Z., Wilkin D.J., Lachman R.S., Wilcox W.R., Rimoin D.L., Cohn D.H., Wasmuth J.J. Nat. Genet. 9:321-328(1995) · UniProtKB (1) |
| A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer. Mortier G.R., Wilkin D.J., Wilcox W.R., Rimoin D.L., Lachman R.S., Eyre D.R., Cohn D.H. Hum. Mol. Genet. 4:285-288(1995) · UniProtKB (1) |
| Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Briggs M.D., Hoffman S.M.G., King L.M., Olsen A.S., Mohrenweiser H., Leroy J.G., Mortier G.R., Rimoin D.L., Lachman R.S., Gaines E.S. et al. |
| Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type. Tiller G.E., Polumbo P.A., Weis M.A., Bogaert R., Lachman R.S., Cohn D.H., Rimoin D.L., Eyre D.R. Nat. Genet. 11:87-89(1995) · UniProtKB (1) |