Nosology of genetic skeletal disorders: 2023 revision
Unger, Sheila, Ferreira, Carlos R., Mortier, Geert R., Ali, Houda, Bertola, Débora R., Calder, Alistair, Cohn, Daniel H., Cormier‐Daire, Valerie, Girisha, Katta M., Hall, Christine, Krakow, Deborah, Makitie, Outi, Mundlos, Stefan, Nishimura, Gen, Robertson, Stephen P., Savarirayan, Ravi, Sillence, David, Simon, Marleen, Sutton, V. Reid, Warman, Matthew L., Superti‐Furga, Andrea
Published in American journal of medical genetics. Part A (01.05.2023)
Published in American journal of medical genetics. Part A (01.05.2023)
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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
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
Published in Nature genetics (01.04.2004)
Published in Nature genetics (01.04.2004)
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Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis
Fernandes, R J, Hirohata, S, Engle, J M, Colige, A, Cohn, D H, Eyre, D R, Apte, S S
Published in The Journal of biological chemistry (24.08.2001)
Published in The Journal of biological chemistry (24.08.2001)
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Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Warman, Matthew L, Gong, Yaoqin, Krakow, Deborah, Marcelino, Jose, Wilkin, Douglas, Chitayat, David, Babul-Hirji, Riyana, Hudgins, Louanne, Cremers, Cor W, Cremers, Frans P.M, Brunner, Han G, Reinker, Kent, Rimoin, David L, Cohn, Daniel H, Goodman, Frances R, Reardon, William, Patton, Michael, Francomano, Clair A
Published in Nature genetics (01.03.1999)
Published in Nature genetics (01.03.1999)
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Mutations in FLNB cause boomerang dysplasia
Bicknell, L S, Morgan, T, Bonafé, L, Wessels, M W, Bialer, M G, Willems, P J, Cohn, D H, Krakow, D, Robertson, S P
Published in Journal of medical genetics (01.07.2005)
Published in Journal of medical genetics (01.07.2005)
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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
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
Published in Nature genetics (01.03.1995)
Published in Nature genetics (01.03.1995)
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Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse
King, Lily M, Ahmad, Wasim, Ahmad, Mahmud, Haque, Sayedul, Rusiniak, Michael E, Haque, Muhammad Faiyaz ul, Krakow, Deborah, Cantor, Rita M, Abbas, Hasan, Superti-Furga, Andrea, Swank, Richard T, Cohn, Daniel H
Published in Nature genetics (01.10.1998)
Published in Nature genetics (01.10.1998)
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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, Cekleniak, J.A, Knowlton, R.G, Cohn, D.H
Published in Nature genetics (01.07.1995)
Published in Nature genetics (01.07.1995)
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Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W
Ballhausen, D, Bonafé, L, Terhal, P, Unger, S L, Bellus, G, Classen, M, Hamel, B C, Spranger, J, Zabel, B, Cohn, D H, Cole, W G, Hecht, J T, Superti-Furga, A
Published in Journal of medical genetics (01.01.2003)
Published in Journal of medical genetics (01.01.2003)
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Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene
Cohn, Daniel H., Ehtesham, Nadia, Krakow, Deborah, Unger, Sheila, Shanske, Alan, Reinker, Kent, Powell, Berkley R., Rimoin, David L.
Published in American journal of human genetics (01.02.2003)
Published in American journal of human genetics (01.02.2003)
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MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia
Lachman, Ralph S, Krakow, Deborah, Cohn, Daniel H, Rimoin, David L
Published in Pediatric radiology (01.02.2005)
Published in Pediatric radiology (01.02.2005)
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Fine mapping of the X-linked split-hand/split-foot malformation (SHFM2) locus to a 5.1-Mb region on Xq26.3 and analysis of candidate genes
Faiyaz-Ul-Haque, M, Zaidi, SHE, King, LM, Haque, S, Patel, M, Ahmad, M, Siddique, T, Ahmad, W, Tsui, L-C, Cohn, DH
Published in Clinical genetics (01.01.2005)
Published in Clinical genetics (01.01.2005)
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Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)
Faiyaz-Ul-Haque, M, Ahmad, W, Zaidi, SHE, Haque, S, Teebi, AS, Ahmad, M, Cohn, DH, Tsui, L-C
Published in Clinical genetics (01.06.2002)
Published in Clinical genetics (01.06.2002)
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Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia
MELKONIEMI, Miia, KOILLINEN, Hannele, KRAKOW, Deborah, COHN, Daniel H, KERE, Juha, ALA-KOKKO, Leena, MÄNNIKKÖ, Minna, WARMAN, Matthew L, PIHLAJAMAA, Tero, KÄÄRIÄINEN, Helena, RAUTIO, Jorma, HUKKI, Jyri, STOFKO, Joseph A, CISNEROS, George J
Published in European journal of human genetics : EJHG (01.03.2003)
Published in European journal of human genetics : EJHG (01.03.2003)
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Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST) : Evidence for a phenotypic series involving three chondrodysplasias
HÄSTBACKA, J, SUPERTI-FURGA, A, WILCOX, W. R, RIMOIN, D. L, COHN, D. H, LANDER, E. S
Published in American journal of human genetics (01.02.1996)
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Published in American journal of human genetics (01.02.1996)
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Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene
Superti-Furga, Andrea, Hästbacka, Johanna, Wilcox, William R, Cohn, Daniel H, van der Harten, Hans J, Rossi, Antonio, Blau, Nenad, Rimoin, David L, Steinmann, Beat, Lander, Eric S, Gitzelmann, Richard
Published in Nature genetics (01.01.1996)
Published in Nature genetics (01.01.1996)
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Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum
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.
Published in American journal of human genetics (01.02.1998)
Published in American journal of human genetics (01.02.1998)
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Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene
Colige, Alain, Sieron, Aleksander L., Li, Shi-Wu, Schwarze, Ulrike, Petty, Elizabeth, Wertelecki, Wladimir, Wilcox, William, Krakow, Deborah, Cohn, Daniel H., Reardon, W., Byers, Peter H., Lapière, Charles M., Prockop, Darwin J., Nusgens, Betty V.
Published in American journal of human genetics (01.08.1999)
Published in American journal of human genetics (01.08.1999)
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