Search Results - "Goodman, Frances R."

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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Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis by Superti-Furga, Andrea, Shears, Deborah J, Reardon, William, Palmer, Rodger W, Vassal, Humberto J, Scambler, Peter J, Winter, Robin M, Goodman, Frances R

“…Leri-Weill Dyschondrosteosis (LWD; OMIM 127300) is a dominantly inherited skeletal dysplasia characterized by disproportionate short stature with predominantly…”
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An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function by Caronia, Giuliana, Goodman, Frances R, McKeown, Carole M E, Scambler, Peter J, Zappavigna, Vincenzo

“…The 5′ members of the Hoxa and Hoxd gene clusters play major roles in vertebrate limb development. One such gene, HOXD13 , is mutated in the human limb…”
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Mutations in CDMP1 cause autosomal dominant brachydactyly type C by Polinkovsky, Alexander, Robin, Nathaniel H, Thomas, J. Terrig, Irons, Mira, Lynn, Audrey, Goodman, Frances R, Reardon, William, Kant, Sarina G, Brunner, Han G, van der Burgt, Ineke, Chitayat, David, McGaughran, Julie, Donnai, Dian, Luyten, Frank P, Warman, Matthew L

“…We are interested in identifying genes that are responsible for the 'fine tuning' of skeletal structure. Brachydactylies - disorders in which individual bones,…”
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Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families by Savarirayan, Ravi, White, Susan M., Goodman, Frances R., Graham Jr, John M., Delatycki, Martin B., Lachman, Ralph S., Rimoin, David L., Everman, David B., Warman, Matthew L.

“…CDMP‐1, a cartilage‐specific member of the TGFß superfamily of secreted signaling molecules, plays a key role in chondrogenesis, growth and patterning of the…”
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Congenital abnormalities of body patterning: embryology revisited by Goodman, Frances R

“…Many of the developmental mechanisms and molecular pathways that underlie fundamental features of body patterning are shared by all vertebrates, and some have…”
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Limb malformations and the human HOX genes by Goodman, Frances R.

“…HOX genes encode a family of transcription factors of fundamental importance for body patterning during embryonic development. Humans, like most vertebrates,…”
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A 117-kb Microdeletion Removing HOXD9– HOXD13 and EVX2 Causes Synpolydactyly by Goodman, Frances R., Majewski, Frank, Collins, Amanda L., Scambler, Peter J.

“…Studies in mouse and chick have shown that the 5′ HoxD genes play major roles in the development of the limbs and genitalia. In humans, mutations in HOXD13…”
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Novel HOXA13 Mutations and the Phenotypic Spectrum of Hand-Foot-Genital Syndrome by Goodman, Frances R., Bacchelli, Chiara, Brady, Angela F., Brueton, Louise A., Fryns, Jean-Pierre, Mortlock, Douglas P., Innis, Jeffrey W., Holmes, Lewis B., Donnenfeld, Alan E., Feingold, Murray, Beemer, Frits A., Hennekam, Raoul C.M., Scambler, Peter J.

“…Hand-foot-genital syndrome (HFGS) is a rare, dominantly inherited condition affecting the distal limbs and genitourinary tract. A nonsense mutation in the…”
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A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome by Innis, Jeffrey W., Goodman, Frances R., Bacchelli, Chiara, Williams, Thomas M., Mortlock, Douglas P., Sateesh, Praveen, Scambler, Peter J., McKinnon, Wendy, Guttmacher, Alan E.

“…Guttmacher syndrome, a dominantly inherited combination of distal limb and genital tract abnormalities, has several features in common with hand‐foot‐genital…”
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Mild case of Curry-Jones syndrome by Thomas, Ellen R A, Wakeling, Emma L, Goodman, Frances R, Dickinson, John C, Hall, Christine M, Brady, Angela F

“…The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic…”
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A novel acropectoral syndrome maps to chromosome 7q36 by Dundar, Munis, Gordon, Tilda M, Ozyazgan, Irfan, Oguzkaya, Fahri, Ozkul, Yusuf, Cooke, Alexander, Wilkinson, A Graham, Holloway, Susan, Goodman, Frances R, Tolmie, John L

“…F syndrome (acropectorovertebral syndrome) is a dominantly inherited skeletal dysplasia affecting the hands, feet, sternum, and lumbosacral spine, which has…”
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The mutational spectrum of brachydactyly type C by Everman, David B., Bartels, Cynthia F., Yang, Yue, Yanamandra, Niranjan, Goodman, Frances R., Mendoza-Londono, J. Roberto, Savarirayan, Ravi, White, Susan M., Graham Jr, John M., Gale, Robert Peter, Svarch, Eva, Newman, William G., Kleckers, Albert R., Francomano, Clair A., Govindaiah, Vinukonda, Singh, Lalji, Morrison, Stuart, Thomas, J. Terrig, Warman, Matthew L.

“…Growth/differentiation factor‐5 (GDF5), also known as cartilage‐derived morphogenetic protein‐1 (CDMP‐1), is a secreted signaling molecule that participates in…”
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AHOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome by Innis, Jeffrey W., Goodman, Frances R., Bacchelli, Chiara, Williams, Thomas M., Mortlock, Douglas P., Sateesh, Praveen, Scambler, Peter J., McKinnon, Wendy, Guttmacher, Alan E.

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Acromelic Frontonasal Dysostosis by Slaney, Sarah F., Goodman, Frances R., Eilers-Walsman, Betty L.C., Hall, Bryan D., Williams, Denise K., Young, Ian D., Hayward, Richard D., Jones, Barry M., Christianson, Arnold L., Winter, Robin M.

“…We report on 3 male and 2 female infants with acromelic frontonasal dysostosis. All 5 had a frontonasal malformation of the face and nasal clefting associated…”
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