Search Results - "Cohn, DH"

Nosology of genetic skeletal disorders: 2023 revision by 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

“…The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 genes reflecting advances in…”
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Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis by 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

“…The filamins are cytoplasmic proteins that regulate the structure and activity of the cytoskeleton by cross-linking actin into three-dimensional networks,…”
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Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxis by Fernandes, R J, Hirohata, S, Engle, J M, Colige, A, Cohn, D H, Eyre, D R, Apte, S S

“…The amino and carboxyl propeptides of procollagens I and II are removed by specific enzymes as a prerequisite for fibril assembly. Null mutations in…”
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Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis by 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

“…The secreted polypeptide noggin (encoded by the Nog gene) binds and inactivates members of the transforming growth factor beta superfamily of signalling…”
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Mutations in FLNB cause boomerang dysplasia by Bicknell, L S, Morgan, T, Bonafé, L, Wessels, M W, Bialer, M G, Willems, P J, Cohn, D H, Krakow, D, Robertson, S P

“…Boomerang dysplasia (BD) is a perinatal lethal osteochondrodysplasia, characterised by absence or underossification of the limb bones and vertebrae. The BD…”
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Exome sequencing for disease gene discovery in Jeune’s Asphyxiating Thoracic Dystrophy by Taylor, P, Wu, S, Nelson, SF, Cohn, DH, Krakow, D

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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 by 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

“…Thanatophoric dysplasia (TD), the most common neonatal lethal skeletal dysplasia, affects one out of 20,000 live births. Affected individuals display features…”
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Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse by 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

“…The osteochondrodysplasias are a genetically heterogeneous group of disorders affecting skeletal development, linear growth and the maintenance of cartilage…”
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Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene by 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

“…Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are dominantly inherited chondrodysplasias characterized by short stature and early-onset…”
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Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W by 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

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Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene by Cohn, Daniel H., Ehtesham, Nadia, Krakow, Deborah, Unger, Sheila, Shanske, Alan, Reinker, Kent, Powell, Berkley R., Rimoin, David L.

“…Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC) are similar, rare autosomal recessive osteochondrodysplasias. The radiographic…”
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MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia by Lachman, Ralph S, Krakow, Deborah, Cohn, Daniel H, Rimoin, David L

“…This overview covers the group of disorders that presents radiographically as multiple epiphyseal dysplasia (MED). The disorders include "classic MED" (Ribbing…”
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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 by Faiyaz-Ul-Haque, M, Zaidi, SHE, King, LM, Haque, S, Patel, M, Ahmad, M, Siddique, T, Ahmad, W, Tsui, L-C, Cohn, DH

“…Split‐hand/split‐foot malformation (SHFM) is a genetically heterogeneous disorder, with five known loci, that causes a lack of median digital rays, syndactyly,…”
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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) by Faiyaz-Ul-Haque, M, Ahmad, W, Zaidi, SHE, Haque, S, Teebi, AS, Ahmad, M, Cohn, DH, Tsui, L-C

“…The present authors have previously described a consanguineous Pakistani family with fibular hypoplasia and complex brachydactyly (DuPan syndrome) inherited as…”
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Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia by 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

“…Cleft palate is a common birth defect, but its etiopathogenesis is mostly unknown. Several studies have shown that cleft palate has a strong genetic component…”
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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 by HÄSTBACKA, J, SUPERTI-FURGA, A, WILCOX, W. R, RIMOIN, D. L, COHN, D. H, LANDER, E. S

“…Atelosteogenesis type II (AO II) is a neonatally lethal chondrodysplasia whose clinical and histological characteristics resemble those of another…”
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Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene by 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

“…Achondrogenesis type IB (ACG-IB) is a recessively inherited chondrodysplasia characterized by extremely poor skeletal development and perinatal death. A defect…”
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Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease Spectrum by 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.

“…Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are autosomal dominant osteochondrodysplasias that result in mild to severe short-limb…”
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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 by 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.

“…Ehlers-Danlos syndrome (EDS) type VIIC is a recessively inherited connective-tissue disorder, characterized by extreme skin fragility, characteristic facies,…”
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A Locus for an Autosomal Dominant Form of Progressive Renal Failure and Hypertension at Chromosome 1q21 by Cohn, Daniel H., Shohat, Tamy, Yahav, Michal, Ilan, Tsafra, Rechavi, Gidi, King, Lily, Shohat, Mordechai

“…Linkage studies were performed in a large family with an autosomal dominant phenotype characterized by nephropathy and hypertension. In this family of Iraqi…”
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