WDR34 Mutations that Cause Short-Rib Polydactyly Syndrome Type III/Severe Asphyxiating Thoracic Dysplasia Reveal a Role for the NF-κB Pathway in Cilia
Huber, Céline, Wu, Sulin, Kim, Ashley S., Sigaudy, Sabine, Sarukhanov, Anna, Serre, Valérie, Baujat, Genevieve, Le Quan Sang, Kim-Hanh, Rimoin, David L., Cohn, Daniel H., Munnich, Arnold, Krakow, Deborah, Cormier-Daire, Valérie
Published in American journal of human genetics (07.11.2013)
Published in American journal of human genetics (07.11.2013)
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Nosology and classification of genetic skeletal disorders: 2010 revision
Warman, Matthew L., Cormier-Daire, Valerie, Hall, Christine, Krakow, Deborah, Lachman, Ralph, LeMerrer, Martine, Mortier, Geert, Mundlos, Stefan, Nishimura, Gen, Rimoin, David L., Robertson, Stephen, Savarirayan, Ravi, Sillence, David, Spranger, Juergen, Unger, Sheila, Zabel, Bernhard, Superti-Furga, Andrea
Published in American journal of medical genetics. Part A (01.05.2011)
Published in American journal of medical genetics. Part A (01.05.2011)
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Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis
Lee, Hane, Graham, John M., Rimoin, David L., Lachman, Ralph S., Krejci, Pavel, Tompson, Stuart W., Nelson, Stanley F., Krakow, Deborah, Cohn, Daniel H.
Published in American journal of human genetics (06.04.2012)
Published in American journal of human genetics (06.04.2012)
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Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism
Wendt, Daniel J, Dvorak-Ewell, Melita, Bullens, Sherry, Lorget, Florence, Bell, Sean M, Peng, Jeff, Castillo, Sianna, Aoyagi-Scharber, Mika, O'Neill, Charles A, Krejci, Pavel, Wilcox, William R, Rimoin, David L, Bunting, Stuart
Published in The Journal of pharmacology and experimental therapeutics (01.04.2015)
Published in The Journal of pharmacology and experimental therapeutics (01.04.2015)
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Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
Le Goff, Carine, Mahaut, Clémentine, Wang, Lauren W., Allali, Slimane, Abhyankar, Avinash, Jensen, Sacha, Zylberberg, Louise, Collod-Beroud, Gwenaelle, Bonnet, Damien, Alanay, Yasemin, Brady, Angela F., Cordier, Marie-Pierre, Devriendt, Koen, Genevieve, David, Kiper, Pelin Özlem Simsek, Kitoh, Hiroshi, Krakow, Deborah, Lynch, Sally Ann, Le Merrer, Martine, Mégarbane, André, Mortier, Geert, Odent, Sylvie, Polak, Michel, Rohrbach, Marianne, Sillence, David, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Rimoin, David L., Topouchian, Vicken, Unger, Sheila, Zabel, Bernhard, Bole-Feysot, Christine, Nitschke, Patrick, Handford, Penny, Casanova, Jean-Laurent, Boileau, Catherine, Apte, Suneel S., Munnich, Arnold, Cormier-Daire, Valérie
Published in American journal of human genetics (15.07.2011)
Published in American journal of human genetics (15.07.2011)
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Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study
Reinstein, Eyal, Pariani, Mitchel, Bannykh, Serguei, Rimoin, David L, Schievink, Wouter I
Published in European journal of human genetics : EJHG (01.04.2013)
Published in European journal of human genetics : EJHG (01.04.2013)
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Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia
Prenen, Jean, Owsianik, Grzegorz, Voets, Thomas, Funari, Tara L, Nelson, Stanley F, Lachman, Ralph S, Merriman, Barry, Reyno, Soraya, Vaglio, Alicia, Cohn, Daniel H, Funari, Vincent A, Rock, Matthew J, Rimoin, David L, Nilius, Bernd, Nagai, Toshiro, Janssens, Annelies, Wilcox, William R, Quadrelli, Roberto, Ikegawa, Shiro
Published in Nature genetics (01.08.2008)
Published in Nature genetics (01.08.2008)
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Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
Krakow, Deborah, Vriens, Joris, Camacho, Natalia, Luong, Phi, Deixler, Hannah, Funari, Tara L., Bacino, Carlos A., Irons, Mira B., Holm, Ingrid A., Sadler, Laurie, Okenfuss, Ericka B., Janssens, Annelies, Voets, Thomas, Rimoin, David L., Lachman, Ralph S., Nilius, Bernd, Cohn, Daniel H.
Published in American journal of human genetics (13.03.2009)
Published in American journal of human genetics (13.03.2009)
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Journal Article
Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome
Merrill, Amy E., Merriman, Barry, Farrington-Rock, Claire, Camacho, Natalia, Sebald, Eiman T., Funari, Vincent A., Schibler, Matthew J., Firestein, Marc H., Cohn, Zachary A., Priore, Mary Ann, Thompson, Alicia K., Rimoin, David L., Nelson, Stanley F., Cohn, Daniel H., Krakow, Deborah
Published in American journal of human genetics (01.04.2009)
Published in American journal of human genetics (01.04.2009)
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Journal Article
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta
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, Lee, Brendan
Published in Human mutation (01.12.2008)
Published in Human mutation (01.12.2008)
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Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1
Saitta, Biagio, Passarini, Jenna, Sareen, Dhruv, Ornelas, Loren, Sahabian, Anais, Argade, Shilpa, Krakow, Deborah, Cohn, Daniel H, Svendsen, Clive N, Rimoin, David L
Published in Stem cells and development (01.07.2014)
Published in Stem cells and development (01.07.2014)
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Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A
Reinstein, Eyal, Frentz, Sophia, Morgan, Tim, García-Miñaúr, Sixto, Leventer, Richard J, McGillivray, George, Pariani, Mitchel, van der Steen, Anthony, Pope, Michael, Holder-Espinasse, Muriel, Scott, Richard, Thompson, Elizabeth M, Robertson, Terry, Coppin, Brian, Siegel, Robert, Bret Zurita, Montserrat, Rodríguez, Jose I, Morales, Carmen, Rodrigues, Yuri, Arcas, Joaquín, Saggar, Anand, Horton, Margaret, Zackai, Elaine, Graham, John M, Rimoin, David L, Robertson, Stephen P
Published in European journal of human genetics : EJHG (01.05.2013)
Published in European journal of human genetics : EJHG (01.05.2013)
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A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan
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., Krakow, Deborah
Published in American journal of human genetics (09.01.2009)
Published in American journal of human genetics (09.01.2009)
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The skeletal dysplasias: clinical-molecular correlations
Rimoin, David L, Cohn, Daniel, Krakow, Deborah, Wilcox, William, Lachman, Ralph S, Alanay, Yasemin
Published in Annals of the New York Academy of Sciences (01.11.2007)
Published in Annals of the New York Academy of Sciences (01.11.2007)
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Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: review of an 11-year surgical case series
Mukherjee, Debraj, Pressman, Barry D, Krakow, Deborah, Rimoin, David L, Danielpour, Moise
Published in Journal of neurosurgery. Pediatrics (01.09.2014)
Published in Journal of neurosurgery. Pediatrics (01.09.2014)
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Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human
Kinoshita-Toyoda, Akiko, Cohn, Daniel H, Ikegawa, Shiro, Sanai, Yutaka, Nikkels, Peter G, Hiraoka, Shuichi, Isono, Kyoichi, Furuichi, Tatsuya, Ishida, Nobuhiro, Nishimura, Gen, Ogawa, Minako, Toyoda, Hidenao, Koseki, Haruhiko, Yanagishita, Masaki, Superti-Furga, Andrea, Katsuyama, Kayoko, Rimoin, David L, Shibata, Shunichi
Published in Nature medicine (01.11.2007)
Published in Nature medicine (01.11.2007)
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Visceroptosis of the bowel in the hypermobility type of Ehlers–Danlos syndrome: Presentation of a rare manifestation and review of the literature
Reinstein, Eyal, Pimentel, Mark, Pariani, Mitchel, Nemec, Stephen, Sokol, Thomas, Rimoin, David L
Published in European journal of medical genetics (01.10.2012)
Published in European journal of medical genetics (01.10.2012)
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Journal Article
Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features
Reinstein, Eyal, DeLozier, Celia Dawn, Simon, Ziv, Bannykh, Serguei, Rimoin, David L, Curry, Cynthia J
Published in European journal of human genetics : EJHG (01.02.2013)
Published in European journal of human genetics : EJHG (01.02.2013)
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