Genes uniquely expressed in human growth plate chondrocytes uncover a distinct regulatory network

por Li, Bing, Balasubramanian, Karthika, Krakow, Deborah, Cohn, Daniel H.
Publicado 2017

Genetic evaluation of suspected osteogenesis imperfecta (OI)

por Byers, Peter H., Krakow, Deborah, Nunes, Mark E., Pepin, Melanie
Publicado 2006

Cartilage-selective genes identified in genome-scale analysis of non-cartilage and cartilage gene expression

por Funari, Vincent A, Day, Allen, Krakow, Deborah, Cohn, Zachary A, Chen, Zugen, Nelson, Stanley F, Cohn, Daniel H
Publicado 2007

Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

por Marques, Felipe, Tenney, Jessica, Duran, Ivan, Martin, Jorge, Nevarez, Lisette, Pogue, Robert, Krakow, Deborah, Cohn, Daniel H., Li, Bing
Publicado 2016

Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis

por Marques, Felipe, Tenney, Jessica, Duran, Ivan, Martin, Jorge, Nevarez, Lisette, Pogue, Robert, Krakow, Deborah, Cohn, Daniel H., Li, Bing
Publicado 2016

Emergency department use among postpartum women with mental health disorders

por Pluym, Ilina D., Holliman, Kerry, Afshar, Yalda, Lee, Connie C., Richards, Misty C., Han, Christina S., Krakow, Deborah, Rao, Rashmi
Publicado 2021

The skeleton and musculature on foetal MRI

por Nemec, Ursula, Nemec, Stefan F., Krakow, Deborah, Brugger, Peter C., Malinger, Gustavo, Graham, John M., Rimoin, David L., Prayer, Daniela
Publicado 2011

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

por Taylor, S. Paige, Dantas, Tiago J., Duran, Ivan, Wu, Sulin, Lachman, Ralph S., Nelson, Stanley F., Cohn, Daniel H., Vallee, Richard B., Krakow, Deborah
Publicado 2015

Intervertebral disc degeneration is rescued by TGFβ/BMP signaling modulation in an ex vivo filamin B mouse model

por Zieba, Jennifer, Forlenza, Kimberly N., Heard, Kelly, Martin, Jorge H., Bosakova, Michaela, Cohn, Daniel H., Robertson, Stephen P., Krejci, Pavel, Krakow, Deborah
Publicado 2022

Destabilization of the IFT-B cilia core complex due to mutations in IFT81 causes a Spectrum of Short-Rib Polydactyly Syndrome

por Duran, Ivan, Taylor, S. Paige, Zhang, Wenjuan, Martin, Jorge, Forlenza, Kimberly N., Spiro, Rhonda P., Nickerson, Deborah A., Bamshad, Michael, Cohn, Daniel H., Krakow, Deborah
Publicado 2016

TGFβ and BMP Dependent Cell Fate Changes Due to Loss of Filamin B Produces Disc Degeneration and Progressive Vertebral Fusions

por Zieba, Jennifer, Forlenza, Kimberly Nicole, Khatra, Jagteshwar Singh, Sarukhanov, Anna, Duran, Ivan, Rigueur, Diana, Lyons, Karen M., Cohn, Daniel H., Merrill, Amy E., Krakow, Deborah
Publicado 2016

Patterns of Peripartum Depression and Anxiety During the Pre-Vaccine COVID-19 Pandemic

por Altendahl, Marie R, Xu, Liwen, Asiodu, Ifeyinwa, Boscardin, John, Gaw, Stephanie L, Flaherman, Valerie J, Jacoby, Vanessa L, Richards, Misty C, Krakow, Deborah, Afshar, Yalda
Publicado 2022

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia

por Duran, Ivan, Taylor, S. Paige, Zhang, Wenjuan, Martin, Jorge, Qureshi, Faisal, Jacques, Suzanne M., Wallerstein, Robert, Lachman, Ralph S., Nickerson, Deborah A., Bamshad, Michael, Cohn, Daniel H., Krakow, Deborah
Publicado 2017

Skeletal diseases caused by mutations in PTH1R show aberrant differentiation of skeletal progenitors due to dysregulation of DEPTOR

por Csukasi, Fabiana, Bosakova, Michaela, Barta, Tomas, Martin, Jorge H., Arcedo, Jesus, Barad, Maya, Rico-Llanos, Gustavo A., Zieba, Jennifer, Becerra, Jose, Krejci, Pavel, Duran, Ivan, Krakow, Deborah
Publicado 2023

Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia

por Barad, Maya, Csukasi, Fabiana, Bosakova, Michaela, Martin, Jorge H., Zhang, Wenjuan, Paige Taylor, S., Lachman, Ralph S., Zieba, Jennifer, Bamshad, Michael, Nickerson, Deborah, Chong, Jessica X., Cohn, Daniel H., Krejci, Pavel, Krakow, Deborah, Duran, Ivan
Publicado 2020

4‐PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta

por Duran, Ivan, Zieba, Jennifer, Csukasi, Fabiana, Martin, Jorge H., Wachtell, Davis, Barad, Maya, Dawson, Brian, Fafilek, Bohumil, Jacobsen, Christina M., Ambrose, Catherine G., Cohn, Daniel H., Krejci, Pavel, Lee, Brendan H., Krakow, Deborah
Publicado 2022

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

por Zieba, Jennifer, Zhang, Wenjuan, Chong, Jessica X., Forlenza, Kimberly N., Martin, Jorge H., Heard, Kelly, Grange, Dorothy K., Butler, Merlin G., Kleefstra, Tjitske, Lachman, Ralph S., Nickerson, Deborah, Regnier, Michael, Cohn, Daniel H., Bamshad, Michael, Krakow, Deborah
Publicado 2017

Clinical Presentation of Coronavirus Disease 2019 (COVID-19) in Pregnant and Recently Pregnant People

por Afshar, Yalda, Gaw, Stephanie L., Flaherman, Valerie J., Chambers, Brittany D., Krakow, Deborah, Berghella, Vincenzo, Shamshirsaz, Alireza A., Boatin, Adeline A., Aldrovandi, Grace, Greiner, Andrea, Riley, Laura, Boscardin, W. John, Jamieson, Denise J., Jacoby, Vanessa L.
Publicado 2020

Generalized Connective Tissue Disease in Crtap-/- Mouse

por Baldridge, Dustin, Lennington, Jennifer, Weis, MaryAnn, Homan, Erica P., Jiang, Ming-Ming, Munivez, Elda, Keene, Douglas R., Hogue, William R., Pyott, Shawna, Byers, Peter H., Krakow, Deborah, Cohn, Daniel H., Eyre, David R., Lee, Brendan, Morello, Roy
Publicado 2010

Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

por 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
Publicado 2011