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649 results on '"Rimoin, David L."'

1. Clinical and radiographic delineation of Bent Bone Dysplasia‐FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel‐shaped Phalanges

Author

Krakow, Deborah, Cohn, Daniel H, Wilcox, William R, Noh, Grace J, Raffel, Leslie J, Sarukhanov, Anna, Ivanova, Margarita H, Danielpour, Moise, Grange, Dorothy K, Elliott, Alison M, Bernstein, Jonathan A, Rimoin, David L, Merrill, Amy E, and Lachman, Ralph S

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Dental/Oral and Craniofacial Disease, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Alleles, Amino Acid Substitution, Clavicle, Facies, Female, Finger Phalanges, Genotype, Humans, Male, Mutation, Osteochondrodysplasias, Phenotype, Pregnancy, Pregnancy Outcome, Prenatal Diagnosis, Radiography, Receptor, Fibroblast Growth Factor, Type 2, Registries, skeletal dysplasia, FGFR2, craniosynostosis, bent bone dysplasia, Clinical Sciences, Clinical sciences
Abstract

Bent Bone Dysplasia-FGFR2 type is a relatively recently described bent bone phenotype with diagnostic clinical, radiographic, and molecular characteristics. Here we report on 11 individuals, including the original four patients plus seven new individuals with three longer-term survivors. The prenatal phenotype included stillbirth, bending of the femora, and a high incidence of polyhydramnios, prematurity, and perinatal death in three of 11 patients in the series. The survivors presented with characteristic radiographic findings that were observed among those with lethality, including bent bones, distinctive (moustache-shaped) small clavicles, angel-shaped metacarpals and phalanges, poor mineralization of the calvarium, and craniosynostosis. Craniofacial abnormalities, hirsutism, hepatic abnormalities, and genitourinary abnormalities were noted as well. Longer-term survivors all needed ventilator support. Heterozygosity for mutations in the gene that encodes Fibroblast Growth Factor Receptor 2 (FGFR2) was identified in the nine individuals with available DNA. Description of these patients expands the prenatal and postnatal findings of Bent Bone Dysplasia-FGFR2 type and adds to the phenotypic spectrum among all FGFR2 disorders. © 2016 Wiley Periodicals, Inc.

Published
2016

2. Mutations in the gene encoding 3β- hydroxysteroid-Δ8,Δ7- isomerase cause X-linked dominant Conradi-Hünermann syndrome

Author

Braverman, Nancy, Lin, Paul, Moebius, Fabian F, Obie, Cassandra, Moser, Ann, Glossmann, Hartmut, Wilcox, William R, Rimoin, David L, Smith, Moyra, Kratz, Lisa, Kelley, Richard I, and Valle, David

Subjects
Biological Sciences, Genetics, 2.1 Biological and endogenous factors, Aetiology, Adolescent, Base Sequence, Carrier Proteins, Child, Chondrodysplasia Punctata, DNA, DNA Primers, Female, Genetic Linkage, Humans, Infant, Newborn, Molecular Sequence Data, Mutation, Pregnancy, Steroid Isomerases, X Chromosome, dehydrocholesterol, 8(9) cholestenol, cholesterol derivative, delta8, delta7 sterol isomerase, isomerase, unclassified drug, allele, article, chondrodysplasia punctata, controlled study, DNA sequence, gene mapping, gene mutation, genetic analysis, human, human tissue, missense mutation, nucleotide sequence, priority journal, sterol metabolism, X chromosome dominant inheritance, Linkage, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

X-linked dominant Conradi-Hünermann syndrome (CDPX2; MIM 302960) is one of a group of disorders with aberrant punctate calcification in cartilage, or chondrodysplasia punctata (CDP). This is most prominent around the vertebral column, pelvis and long bones in CPDX2. Additionally, CDPX2 patients may have asymmetric rhizomesomelia, sectorial cataracts, patchy alopecia, ichthyosis and atrophoderma. The phenotype in CDPX2 females ranges from stillborn to mildly affected individuals identified in adulthood. CDPX2 is presumed lethal in males, although a few affected males have been reported. We found increased 8(9)-cholestenol and 8-dehydrocholesterol in tissue samples from seven female probands with CDPX2 (ref. 4). This pattern of accumulated cholesterol intermediates suggested a deficiency of 3beta-hydroxysteroid-delta8,delta7-isomerase (sterol-delta8-isomerase), which catalyses an intermediate step in the conversion of lanosterol to cholesterol. A candidate gene encoding a sterol-delta8-isomerase (EBP) has been identified and mapped to Xp11.22-p11.23 (refs 5,6). Using SSCP analysis and sequencing of genomic DNA, we found EBP mutations in all probands. We confirmed the functional significance of two missense alleles by expressing them in a sterol-delta8-isomerase-deficient yeast strain. Our results indicate that defects in sterol-delta8-isomerase cause CDPX2 and suggest a role for sterols in bone development.

Published
1999

4. Ovarian cysts on prenatal MRI

Author

Nemec, Ursula, Nemec, Stefan F., Bettelheim, Dieter, Brugger, Peter C., Horcher, Ernst, Schöpf, Veronika, Graham, John M., Jr., Rimoin, David L., Weber, Michael, and Prayer, Daniela

Published
2012
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5. Situs anomalies on prenatal MRI

Author

Nemec, Stefan F., Brugger, Peter C., Nemec, Ursula, Bettelheim, Dieter, Kasprian, Gregor, Amann, Gabriele, Rimoin, David L., Graham, John M., Jr., and Prayer, Daniela

Published
2012
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14. BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing

Author

Funari, Vincent A., Krakow, Deborah, Nevarez, Lisette, Zugen Chen, Funari, Tara L., Vatanavicharn, Nithiwat, Wilcox, William R., Rimoin, David L., Nelson, Stanley F., and Cohn, Daniel H.

Subjects
Chromosome mapping -- Usage, Gene mutations -- Analysis, Musculoskeletal diseases -- Genetic aspects, Nucleotide sequencing -- Innovations, Biological sciences
Abstract

An ancestral autozygosity mapping and targeted high-throughput sequencing are used to identify the gene variant which causes diaphanospondylodysostosis (DSD), a rare, recessively-inherited lethal skeletal disorder. Observations reveal that mutations in BMPER cause DSD.

Published
2010

15. A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan

Author

Tompson, Stuart W., Merriman, Barry, Funari, Vincent A., Fresquet, Maryline, Lachman, Ralph S., Rimoin, David L., Nelson, Stanley F., Briggs, Michael D., Cohn, Daniel H., and Krakow, Deborah

Subjects
Gene mutations -- Analysis, Nucleotide sequencing -- Usage, Proteoglycans -- Research, Bones -- Abnormalities, Bones -- Genetic aspects, Biological sciences
Abstract

Analysis of a nuclear family with three affected offspring that identified an autosomal-recessive form of spondyloepimetaphyseal dysplasia characterized by severe short stature and a unique constellation of radiographic findings is reported. The results provide insight on autosomal-recessive skeletal dysplasia and significant role of the aggrecan C-type lectin domain in regulation of endochondral ossification and height.

Published
2009

16. Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human

Author

Hiraoka, Shuichi, Furuichi, Tatsuya, Nishimura, Gen, Shibata, Shunichi, Yanagishita, Masaki, Rimoin, David L, Superti-Furga, Andrea, Nikkels, Peter G, Ogawa, Minako, Katsuyama, Kayoko, Toyoda, Hidenao, Kinoshita-Toyoda, Akiko, Ishida, Nobuhiro, Isono, Kyoichi, Sanai, Yutaka, Cohn, Daniel H, Koseki, Haruhiko, and Ikegawa, Shiro

Abstract

Author(s): Shuichi Hiraoka [1, 13]; Tatsuya Furuichi [2, 13]; Gen Nishimura [3]; Shunichi Shibata [4]; Masaki Yanagishita [5]; David L Rimoin [6]; Andrea Superti-Furga [7]; Peter G Nikkels [8]; Minako [...]

Published
2007
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27. List of Contributors

Author

Adams, Judith E., primary, Bachrach, Laura K., additional, Bastepe, Murat, additional, Bergwitz, Clemens, additional, Bianchi, Maria Luisa, additional, Bianco, Paolo, additional, Bishop, Nick, additional, Bonewald, Lynda F., additional, Bonjour, Jean-Philippe, additional, Cameron, Noël, additional, Carpenter, Thomas O., additional, Chevalley, Thierry, additional, Cole, William G., additional, Damilakis, John, additional, Demay, Marie B., additional, Econs, Michael J., additional, Ferrari, Serge, additional, Fewtrell, Mary, additional, Gardella, Thomas J., additional, Glorieux, Francis H., additional, Goldberg, Michel, additional, Harvey, Nick, additional, Högler, Wolfgang, additional, Holm, Ingrid A., additional, Jähn, Katharina, additional, Jüppner, Harald, additional, Kaplan, Frederick S., additional, Kovacs, Christopher S., additional, Kronenberg, Henry M., additional, Leonard, Mary B., additional, Long, Fanxin, additional, Maes, Christa, additional, Magen, Daniella, additional, Martin, David D., additional, McKee, Marc D., additional, Miller, Walter L., additional, Mortier, Geert, additional, Mughal, Zulf, additional, Offiah, Amaka C., additional, Perdu, Bram, additional, Perwad, Farzana, additional, Pettifor, John M., additional, Portale, Anthony A., additional, Potts, John T., additional, Prentice, Ann, additional, Rauch, Frank, additional, Retrouvey, Jean-Marc, additional, Rimoin, David L., additional, Rizzoli, Rene, additional, Rowe, David, additional, Salusky, Isidro B., additional, Schwartz, Stéphane, additional, Shaw, Nick, additional, Shore, Eileen M., additional, St-Arnaud, René, additional, Superti-Furga, Andrea, additional, Thakker, Rajesh V., additional, Unger, Sheila, additional, Vanhoenacker, Filip, additional, Van Hul, Wim, additional, Perry, Katherine Wesseling, additional, Whyte, Michael P., additional, Wientroub, Shlomo, additional, and Zelikovic, Israel, additional

Published
2012
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28. Contributors

Author

Abman, Steven H., primary, Ahmed, Amina, additional, Allen, Marilee C., additional, Askenazi, David, additional, Back, Stephen A., additional, Baldwin, H. Scott, additional, Ballard, Roberta A., additional, Bancalari, Eduardo, additional, Bates, Carlton M., additional, Batisky, Donald L., additional, Baumgart, Stephen, additional, Benedetti, Thomas J., additional, Berry, Gerard T., additional, Bianchi, Diana W., additional, Binenbaum, Gil, additional, Bollepalli, Sureka, additional, Bonifacio, Sonia L., additional, Cairo, Mitchell S., additional, Campbell, Katherine H., additional, Caplan, Michael, additional, Cederbaum, Stephen, additional, Chandra, Sudhish, additional, Chen, Ming, additional, Claure, Nelson, additional, Clyman, Ronald I., additional, Cohen, Bernard A., additional, Cole, F. Sessions, additional, Copelovitch, Lawrence, additional, Cunningham, Michael, additional, de Alba Campomanes, Alejandra G., additional, Dees, Ellen, additional, Denne, Scott C., additional, Devaskar, Sherin U., additional, DiBlasi, Robert M., additional, Dimmitt, Reed A., additional, Eichenwald, Eric C., additional, Eisenstein, Eli M., additional, Evans, Jacquelyn R., additional, Evans, Kelly, additional, Farmer, Diana L., additional, Ferrieri, Patricia, additional, Ferriero, Donna M., additional, Finer, Neil N., additional, Fraga, Maria Victoria, additional, Furman, Lydia, additional, Furth, Susan, additional, Gauda, Estelle B., additional, Glader, Bertil, additional, Gleason, Christine A., additional, Goldberg, Michael J., additional, Gonzalez, Fernando, additional, Gopalani, Sameer, additional, Grant, P. Ellen, additional, Greene, Carol L., additional, Guevara-Gallardo, Salvador, additional, Guignard, Jean-Pierre, additional, Guttentag, Susan, additional, Haldeman-Englert, Chad R., additional, Hansen, Thomas, additional, Hing, Anne V., additional, Hohimer, A. Roger, additional, Hostetter, Margaret K., additional, Hull, Andrew D., additional, Jackson, J. Craig, additional, Jain, Lucky, additional, Jain, Vandana, additional, Janjua, Halima Saadia, additional, Juul, Sandra E., additional, Kalkunte, Satyan, additional, Kaplan, Bernard S., additional, Keller, Roberta L., additional, Kelly, Thomas F., additional, Kern, Steven E., additional, Kerkar, Nanda, additional, Kinsella, John P., additional, Kirsch, Roxanne, additional, Kleinman, Monica E., additional, Klitzner, Thomas S., additional, Lambert, Sarah M., additional, Lantos, John D., additional, Leone, Tina A., additional, Leppert, Mary, additional, Levy, Harvey L., additional, Lewin, Mark, additional, Lin-Su, Karen, additional, L. Loh, Mignon, additional, Lorch, Scott A., additional, Lugo, Ralph A., additional, Mai, Volker, additional, Marino, Bradley S., additional, Markovitz, Barry, additional, Marquard, Kerri, additional, Martin, Camilia R., additional, Martin, Richard J., additional, Matthay, Katherine K., additional, Matthews, Dana C., additional, Mayock, Dennis E., additional, Meadow, William L., additional, Menon, Ram K., additional, Mercuri, Eugenio, additional, Mohan, Sowmya S., additional, Moley, Kelle, additional, Mollen, Thomas J., additional, Moore, Jeremy P., additional, Moore, Thomas R., additional, Munson, David A., additional, Murray, Jeffrey C., additional, Neu, Josef, additional, New, Maria I., additional, Nguyen-Vermillion, Annie, additional, Niklas, Victoria, additional, Nimkarn, Saroj, additional, Padbury, James F., additional, Pane, Marika, additional, Paneth, Nigel, additional, Parker, Thomas A., additional, Patterson, Janna C., additional, Pettker, Christian M., additional, Plawner, Lauren L., additional, Poenaru, Dan, additional, Poindexter, Brenda B., additional, Posencheg, Michael A., additional, Prabhu, Sanjay P., additional, Püttgen, Katherine B., additional, Quinn, Graham E., additional, Raju, Tonse N.K., additional, Ramos, Gladys A., additional, Reinking, Benjamin E., additional, Richardson, C. Peter, additional, Rimoin, David L., additional, Robbins, Elizabeth, additional, Robertson, Richard L., additional, Rollins, Mark D., additional, Rose, Susan R., additional, Rosen, Mark A., additional, Rubin, Lewis P., additional, Sahai, Inderneel, additional, Saitta, Sulagna C., additional, Sánchez, Pablo J., additional, Satou, Gary M., additional, Schanler, Richard J., additional, Scher, Mark S., additional, Schleiss, Mark R., additional, Scholz, Thomas D., additional, Schwaderer, Andrew L., additional, Seri, Istvan, additional, Sharma, Surendra, additional, Shereck, Evan B., additional, Sibley, Eric, additional, Signore, Caroline, additional, Simmons, Rebecca, additional, Smith, Jeffrey B., additional, Smith, Lorie B., additional, Song, Clara, additional, Steinhorn, Robin H., additional, Suchy, Frederick J., additional, Sulyok, Endre, additional, Tarczy-Hornoch, Peter, additional, Taylor, George A., additional, Taylor, James A., additional, Thomas, Janet A., additional, Tiller, George E., additional, Tran, Mark M., additional, Trautman, Michael Stone, additional, Upperman, Jeffrey S., additional, van de Ven, Carmella, additional, Vernon, Margaret M., additional, Allan Walker, W., additional, Wallen, Linda D., additional, Waller, Sarah A., additional, Warady, Bradley A., additional, Ward, Robert M., additional, Watchko, Jon F., additional, Wernovsky, Gil, additional, White, Klane K., additional, Williams, Calvin B., additional, Woodrum, David, additional, Woodward, George A., additional, Wright, Dakara Rucker, additional, Wright, Jeffrey A., additional, Wright, Linda L., additional, Young, Christopher M., additional, Young, Guy, additional, Zackai, Elaine H., additional, and Zderic, Stephen A., additional

Published
2012
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30. Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene

Author

Cohn, Daniel H., Ehtesham, Nadia, Krakow, Deborah, Unger, Sheila, Shanske, Alan, Reinker, Kent, Powell, Berkley R., and Rimoin, David L.

Subjects
Dysplasia -- Genetic aspects, Genetic disorders -- Research, Human genetics -- Research, Mental retardation -- Genetic aspects, Musculoskeletal system -- Genetic aspects, Musculoskeletal system -- Abnormalities, Biological sciences
Published
2003

33. Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12. (Report)

Author

Ehtesham, Nadia, Cantor, Rita M., King, Lily M., Reinker, Kent, Powell, Berkley R., Shanske, Alan, Unger, Sheila, Rimoin, David L., and Cohn, Daniel H.

Subjects
Human genetics, Phenotype -- Genetic aspects, Bone diseases -- Research, Bone diseases -- Genetic aspects, Bone diseases -- Health aspects, Bone diseases -- Complications, Dysplasia, Biological sciences
Published
2002

47. CRTAP and LEPRE1 Mutations in Recessive Osteogenesis Imperfecta

Author

Baldridge, Dustin, Schwarze, Ulrike, Morello, Roy, Lennington, Jennifer, Bertin, Terry K., Pace, James M., Pepin, Melanie G., Weis, MaryAnn, Eyre, David R., Walsh, Jennifer, Lambert, Deborah, Green, Andrew, Robinson, Haynes, Michelson, Melonie, Houge, Gunnar, Lindman, Carl, Martin, Judith, Ward, Jewell, Lemyre, Emmanuelle, Mitchell, John J., Krakow, Deborah, Rimoin, David L., Cohn, Daniel H., Byers, Peter H., and Lee, Brendan

Published
2008
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