Pachydermoperiostosis: an update von Castori, M, Sinibaldi, L, Mingarelli, R, Lachman, RS, Rimoin, DL, Dallapiccola, B

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Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short‐rib polydactyly type I, Saldino–Noonan type von Badiner, N., Taylor, S.P., Forlenza, K., Lachman, R. S., Bamshad, M., Nickerson, D., Cohn, D. H., Krakow, D.

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Abnormalities of the upper extremities on fetal magnetic resonance imaging von Nemec, S. F., Kasprian, G., Brugger, P. C., Bettelheim, D., Amann, G., Nemec, U., Rotmensch, S., Graham, J. M., Rimoin, D. L., Lachman, R. S., Prayer, D.

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Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene von 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, Cekleniak, J.A, Knowlton, R.G, Cohn, D.H

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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 von Tavormina, Patricia L, Shiang, Rita, Thompson, Leslie M, Zhu, Ya-Zhen, Wilkin, Douglas J, Lachman, Ralph S, Wilcox, William R, Rimoin, David L, Cohn, Daniel H, Wasmuth, John J

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Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum von Briggs, Michael D., Mortier, Geert R., Cole, William G., King, Lily M., Golik, Steven S., Bonaventure, Jacky, Nuytinck, Lieve, De Paepe, Anne, Leroy, Jules G., Biesecker, Leslie, Lipson, Mark, Wilcox, William R., Lachman, Ralph S., Rimoin, David L., Knowlton, Robert G., Cohn, Daniel H.

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Diagnostic value of radiography in cases of perinatal death: a population based study von Olsen, Ø E, Espeland, A, Maartmann-Moe, H, Lachman, R S, Rosendahl, K

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

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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis von Graham, John M, Krakow, Deborah, Bertolotto, Cristina, Morgan, Timothy, King, Lily M, Bonafe, Luisa, Kim, Chong Ae, Bacino, Carlos A, Steiner, Carlos E, Takafuta, Toshiro, Firth, Helen, Bialer, Martin G, Rimoin, David L, Cohn, Daniel H, Wachsmann-Hogiu, Sebastian, Acuna, Dora, Cormier-Daire, Valerie, Aftimos, Salim, Superti-Furga, Andrea, Lachman, Ralph S, Robertson, Stephen P, Allanson, Judith, Shapiro, Sandor S, Grix, Arthur, Sebald, Eiman T

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The cervical spine in the skeletal dysplasias and associated disorders von Lachman, R S

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Schmid type metaphyseal chondrodysplasia : a spondylometaphyseal dysplasia identical to the Japanese type von SAVARIRAYAN, R, CORMIER-DAIRE, V, LACHMAN, R. S, RIMOIN, D. L

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Dominant mutations in the type II collagen gene, COL2A1 , produce spondyloepimetaphyseal dysplasia, Strudwick type von Tiller, George E, Polumbo, Paula A, Weis, Mary Ann, Bogaert, Ray, Lachman, Ralph S, Cohn, Daniel H, Rimoin, David L, Eyre, David R

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Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism von Graham, Jr, J M, Krakow, D, Tolo, V T, Smith, A K, Lachman, R S

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Fetal imaging in the skeletal dysplasias: overview and experience von LACHMAN, R. S

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Localization of a Multiple Synostoses–Syndrome Disease Gene to Chromosome 17q21-22 von Krakow, Deborah, Reinker, Kent, Powell, Berkley, Cantor, Rita, Priore, Mary Ann, Garber, Ann, Lachman, Ralph S., Rimoin, David L., Cohn, Daniel H.

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International nomenclature and classification of the osteochondrodysplasias (1997) von Lachman, R S

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Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype von Unger, S L, Briggs, M D, Holden, P, Zabel, B, Ala-Kokko, L, Paassilta, P, Lohiniva, J, Rimoin, D L, Lachman, R S, Cohn, D H

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A new form of spondyloperipheral dysplasia with facial dysmorphism, flattened vertebrae, hypoplastic pelvis, brachydactyly and soft tissue syndactyly von Kitoh, H, Lachman, R S

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Guidelines for the prenatal diagnosis of fetal skeletal dysplasias von Krakow, Deborah, Lachman, Ralph S., Rimoin, David L.

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Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings von SHOHAT, M, RIMOIN, D. L, GRUBER, H. E, LACHMAN, R. S

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