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Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-09211-y
By:
- Stattin, Eva-Lena;
- Lindblom, Karin;
- Struglics, André;
- Önnerfjord, Patrik;
- Goldblatt, Jack;
- Dixit, Abhijit;
- Sarkar, Ajoy;
- Randell, Tabitha;
- Suri, Mohnish;
- Raggio, Cathleen;
- Davis, Jessica;
- Carter, Erin;
- Aspberg, Anders
Publication type:
Article
Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations.
Published in:
Scoliosis (17487161), 2007, v. 2, p. 1, doi. 10.1186/1748-7161-2-13
By:
- Ghebranious, Nader;
- Raggio, Cathleen L.;
- Blank, Robert D.;
- McPherson, Elizabeth;
- Burmester, James K.;
- Ivacic, Lynn;
- Rasmussen, Kristen;
- Kislow, Jennifer;
- Glurich, Ingrid;
- Jacobsen, Stig F.;
- Faciszewski, Thomas;
- Pauli, Richard M.;
- Boachie-Adjei, Oheneba;
- Giampietro, Philip F.
Publication type:
Article
Osteogenesis Imperfecta Is More Than a Pediatric Disorder—There Is a Need for Adult Care Evidence to Guide Clinicians.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 2, p. e866, doi. 10.1210/clinem/dgad423
By:
- Folkestad, Lars;
- Hald, Jannie Dahl;
- Tosi, Laura;
- Raggio, Cathleen;
- Semler, Oliver;
- Langdahl, Bente;
- Ralston, Stuart H
Publication type:
Article
Orthopedic considerations and surgical outcomes in Ehlers–Danlos syndromes.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2021, v. 187, n. 4, p. 458, doi. 10.1002/ajmg.c.31958
By:
- Yonko, Elizabeth A.;
- LoTurco, Holly M.;
- Carter, Erin M.;
- Raggio, Cathleen L.
Publication type:
Article
Clinical application of near infrared fiber optic spectroscopy for noninvasive bone assessment.
Published in:
Journal of Biophotonics, 2020, v. 13, n. 4, p. 1, doi. 10.1002/jbio.201960172
By:
- Shanas, No'ad;
- Querido, William;
- Dumont, Alexander;
- Yonko, Elizabeth;
- Carter, Erin;
- Ok, Jina;
- Karchner, James P.;
- Barbe, Mary F.;
- Ali, Sayed;
- Patil, Chetan;
- Raggio, Cathleen;
- Pleshko, Nancy
Publication type:
Article
Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 9, p. 1, doi. 10.1002/ajmg.a.63646
By:
- MacCarrick, Gretchen;
- Aradhya, Swaroop;
- Bailey, Mitch;
- Chu, Dorna;
- Hunt, Abigail;
- Izzo, Emanuela;
- Krakow, Deborah;
- Mackenzie, William;
- Poll, Sarah;
- Raggio, Cathleen;
- Shediac, Renée;
- White, Klane K.;
- McLaughlin, Heather M.;
- Seratti, Guillermo
Publication type:
Article
Patient‐reported prevalence of gastrointestinal issues in the adult skeletal dysplasia population with a concentration on osteogenesis imperfecta.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1435, doi. 10.1002/ajmg.a.62658
By:
- LoTurco, Holly M.;
- Carter, Erin M.;
- McInerney, Deborah E.;
- Raggio, Cathleen L.
Publication type:
Article
Quality of life in adults with achondroplasia in the United States.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 695, doi. 10.1002/ajmg.a.62018
By:
- Yonko, Elizabeth A.;
- Emanuel, Jillian S.;
- Carter, Erin M.;
- Raggio, Cathleen L.
Publication type:
Article
Blood pressure in adults with short stature skeletal dysplasias.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 150, doi. 10.1002/ajmg.a.61402
By:
- Hoover‐Fong, Julie;
- Alade, Adekemi Yewande;
- Ain, Michael;
- Berkowitz, Ivor;
- Bober, Michael;
- Carter, Erin;
- Hecht, Jacqueline;
- Hoerschemeyer, Dan;
- Krakow, Debra;
- MacCarrick, Gretchen;
- Mackenzie, William G.;
- Mendoza, Roberto;
- Okenfuss, Ericka;
- Popplewell, Deirdre;
- Raggio, Cathleen;
- Schulze, Kerry;
- McGready, John
Publication type:
Article
Best practices in peri-operative management of patients with skeletal dysplasias.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2584, doi. 10.1002/ajmg.a.38357
By:
- White, Klane K.;
- Bompadre, Viviana;
- Goldberg, Michael J.;
- Bober, Michael B.;
- Cho, Tae‐Joon;
- Hoover‐Fong, Julie E.;
- Irving, Melita;
- Mackenzie, William G.;
- Kamps, Shawn E.;
- Raggio, Cathleen;
- Redding, Gregory J.;
- Spencer, Samantha S.;
- Savarirayan, Ravi;
- Theroux, Mary C.
Publication type:
Article
Response: 'Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy' and 'is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?'.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1101, doi. 10.1002/ajmg.a.37546
By:
- White, Klane K.;
- Savarirayan, Ravi;
- Goldberg, Michael J.;
- MacKenzie, William;
- Bompadre, Viviana;
- Bober, Michael B.;
- Cho, Tae‐Joon;
- Hoover‐Fong, Julie;
- Parnell, Shawn E.;
- Raggio, Cathleen;
- Spencer, Samantha A.;
- Campbell, Jeffery W.;
- Rapoport, David M.;
- Kifle, Yemiserach;
- Blackledge, Marcella
Publication type:
Article
Best Practices in the Evaluation and Treatment of Foramen Magnum Stenosis in Achondroplasia during Infancy.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 42, doi. 10.1002/ajmg.a.37394
By:
- White, Klane K.;
- Bompadre, Viviana;
- Goldberg, Michael J.;
- Bober, Michael B.;
- Campbell, Jeffrey W.;
- Cho, Tae‐Joon;
- Hoover‐Fong, Julie;
- Mackenzie, William;
- Parnell, Shawn E.;
- Raggio, Cathleen;
- Rapoport, David M.;
- Spencer, Samantha A.;
- Savarirayan, Ravi
Publication type:
Article
Alendronate Treatment of the Brtl Osteogenesis Imperfecta Mouse Improves Femoral Geometry and Load Response Before Fracture but Decreases Predicted Material Properties and Has Detrimental Effects on Osteoblasts and Bone Formation.
Published in:
Journal of Bone & Mineral Research, 2009, v. 24, n. 5, p. 849, doi. 10.1359/jbmr.081238
By:
- Uveges, Thomas E.;
- Kozloff, Kenneth M.;
- Ty, Jennifer M.;
- Ledgard, Felicia;
- Raggio, Cathleen L.;
- Gronowicz, Gloria;
- Goldstein, Steven A.;
- Marini, Joan C.
Publication type:
Article
A Missense T(Brachyury) Mutation Contributes to Vertebral Malformations.
Published in:
Journal of Bone & Mineral Research, 2008, v. 23, n. 10, p. 1576, doi. 10.1359/jbmr.080503
By:
- Ghebranious, Nader;
- Blank, Robert D;
- Raggio, Cathleen L;
- Staubli, Justin;
- McPherson, Elizabeth;
- Ivacic, Lynn;
- Rasmussen, Kristen;
- Jacobsen, F Stig;
- Faciszewski, Thomas;
- Burmester, James K;
- Pauli, Richard M;
- Boachie-Adjei, Oheneba;
- Glurich, Ingrid;
- Giampietro, Philip F
Publication type:
Article
The Material Basis for Reduced Mechanical Properties in oim Mice Bones.
Published in:
Journal of Bone & Mineral Research, 1999, v. 14, n. 2, p. 264, doi. 10.1359/jbmr.1999.14.2.264
By:
- Camacho, Nancy P.;
- Hou, Lindy;
- Toledano, Talya R.;
- Ilg, W. Alex;
- Brayton, Cory F.;
- Raggio, Cathleen L.;
- Root, Leon;
- Boskey, Adele L.
Publication type:
Article
Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization.
Published in:
2016
By:
- Fratzl-Zelman, Nadja;
- Barnes, Aileen M;
- Weis, MaryAnn;
- Carter, Erin;
- Hefferan, Theresa E;
- Perino, Giorgio;
- Chang, Weizhong;
- Smith, Peter A;
- Roschger, Paul;
- Klaushofer, Klaus;
- Glorieux, Francis H;
- Eyre, David R;
- Raggio, Cathleen;
- Rauch, Frank;
- Marini, Joan C
Publication type:
journal article
Progress in the Understanding of the Genetic Etiology of Vertebral Segmentation Disorders in Humans.
Published in:
Annals of the New York Academy of Sciences, 2009, v. 1151, p. 38, doi. 10.1111/j.1749-6632.2008.03452.x
By:
- Giampietro, Philip F.;
- Dunwoodie, Sally L.;
- Kusumi, Kenro;
- Pourquié, Olivier;
- Tassy, Olivier;
- Offiah, Amaka C.;
- Cornier, Alberto S.;
- Alman, Benjamin A.;
- Blank, Robert D.;
- Raggio, Cathleen L.;
- Glurich, Ingrid;
- Turnpenny, Peter D.
Publication type:
Article
Complications and Revisions After Spine Surgery in Patients With Skeletal Dysplasia: Have We Improved?
Published in:
Global Spine Journal, 2023, v. 13, n. 2, p. 268, doi. 10.1177/2192568221994786
By:
- Shafi, Karim;
- Lovecchio, Francis;
- Sava, Maria;
- Steinhaus, Michael;
- Samuel, Andre;
- Carter, Erin;
- Lebl, Darren;
- Farmer, James;
- Raggio, Cathleen
Publication type:
Article
The IMPACT Survey: the economic impact of osteogenesis imperfecta in adults.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03218-6
By:
- Hart, Tracy;
- Westerheim, Ingunn;
- van Welzenis, Taco;
- Semler, Oliver;
- Raggio, Cathleen;
- Rauch, Frank;
- Dadzie, Ruby;
- Prince, Samantha;
- Wekre, Lena Lande
Publication type:
Article
The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03126-9
By:
- Westerheim, Ingunn;
- Hart, Tracy;
- van Welzenis, Taco;
- Wekre, Lena Lande;
- Semler, Oliver;
- Raggio, Cathleen;
- Bober, Michael B.;
- Rapoport, Maria;
- Prince, Samantha;
- Rauch, Frank
Publication type:
Article
Bone robusticity in two distinct skeletal dysplasias diverges from established patterns.
Published in:
Journal of Orthopaedic Research, 2017, v. 35, n. 11, p. 2392, doi. 10.1002/jor.23543
By:
- Citron, Kate;
- Veneziale, Cosmo;
- Marino, Josephine;
- Carter, Erin M.;
- Jepsen, Karl J.;
- Raggio, Cathleen
Publication type:
Article
Respiratory impairment impacts QOL in osteogenesis imperfecta independent of skeletal abnormalities.
Published in:
Archives of Osteoporosis, 2020, v. 15, n. 1, p. 1, doi. 10.1007/s11657-020-00818-0
By:
- Yonko, Elizabeth A.;
- Emanuel, Jillian S.;
- Carter, Erin M.;
- Sandhaus, Robert A.;
- Raggio, Cathleen L.
Publication type:
Article
The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review.
Published in:
Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02627-3
By:
- Rapoport, Maria;
- Bober, Michael B.;
- Raggio, Cathleen;
- Wekre, Lena Lande;
- Rauch, Frank;
- Westerheim, Ingunn;
- Hart, Tracy;
- van Welzenis, Taco;
- Mistry, Arun;
- Clancy, James;
- Booth, Lucy;
- Prince, Samantha;
- Semler, Oliver
Publication type:
Article
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 19, p. 2913, doi. 10.1093/hmg/ddad117
By:
- Rebello, Denise;
- Wohler, Elizabeth;
- Erfani, Vida;
- Li, Guozhuang;
- Aguilera, Alexya N;
- Santiago-Cornier, Alberto;
- Zhao, Sen;
- Hwang, Steven W;
- Steiner, Robert D;
- Zhang, Terry Jianguo;
- Gurnett, Christina A;
- Raggio, Cathleen;
- Wu, Nan;
- Sobreira, Nara;
- Giampietro, Philip F;
- Ciruna, Brian
Publication type:
Article
Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia.
Published in:
2021
By:
- Savarirayan, Ravi;
- Tunkel, David E.;
- Sterni, Laura M.;
- Bober, Michael B.;
- Cho, Tae-Joon;
- Goldberg, Michael J.;
- Hoover-Fong, Julie;
- Irving, Melita;
- Kamps, Shawn E.;
- Mackenzie, William G.;
- Raggio, Cathleen;
- Spencer, Samantha A.;
- Bompadre, Viviana;
- White, Klane K.;
- on behalf of the Skeletal Dysplasia Management Consortium;
- on behalfof the Skeletal Dysplasia Management Consortium
Publication type:
journal article
Best practice guidelines for management of spinal disorders in skeletal dysplasia.
Published in:
2020
By:
- White, Klane K.;
- Bober, Michael B.;
- Cho, Tae-Joon;
- Goldberg, Michael J.;
- Hoover-Fong, Julie;
- Irving, Melita;
- Kamps, Shawn E.;
- Mackenzie, William G.;
- Raggio, Cathleen;
- Spencer, Samantha A.;
- Bompadre, Viviana;
- Savarirayan, Ravi;
- Skeletal Dysplasia Management Consortium
Publication type:
journal article
Assessment of bone mineral density in adults and children with Marfan syndrome.
Published in:
Osteoporosis International, 2003, v. 14, n. 7, p. 559
By:
- Philip F. Giampietro;
- Margaret Peterson;
- Robert Schneider;
- Jessica G. Davis;
- Cathleen Raggio;
- Elizabeth Myers;
- Stephen W. Burke;
- Oheneba Boachie-Adjei;
- Charles M. Mueller
Publication type:
Article
Multiparametric Classification of Skin from Osteogenesis Imperfecta Patients and Controls by Quantitative Magnetic Resonance Microimaging.
Published in:
PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0157891
By:
- Ashinsky, Beth G.;
- Fishbein, Kenneth W.;
- Carter, Erin M.;
- Lin, Ping-Chang;
- Pleshko, Nancy;
- Raggio, Cathleen L.;
- Spencer, Richard G.
Publication type:
Article
A missense variant in SLC39A8 is associated with severe idiopathic scoliosis.
Published in:
Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06705-0
By:
- Haller, Gabe;
- McCall, Kevin;
- Jenkitkasemwong, Supak;
- Sadler, Brooke;
- Antunes, Lilian;
- Nikolov, Momchil;
- Whittle, Julia;
- Upshaw, Zachary;
- Shin, Jimann;
- Baschal, Erin;
- Cruchaga, Carlos;
- Harms, Matthew;
- Raggio, Cathleen;
- Morcuende, Jose A.;
- Giampietro, Philip;
- Miller, Nancy H.;
- Wise, Carol;
- Gray, Ryan S.;
- Solnica-Krezel, Lila;
- Knutson, Mitchell
Publication type:
Article
The Effect of Stontium Ranelate on Fracture Reduction in Osteogenesis Imperfecta is Comparable to Recent Bisphosphonate Data.
Published in:
Journal of Bone & Mineral Research, 2016, v. 31, n. 11, p. 2065, doi. 10.1002/jbmr.2976
By:
- Raggio, Cathleen L;
- Pleshko, Nancy;
- Boskey, Adele L
Publication type:
Article
A novel locus for adolescent idiopathic scoliosis on chromosome 12p.
Published in:
Journal of Orthopaedic Research, 2009, v. 27, n. 10, p. 1366, doi. 10.1002/jor.20885
By:
- Raggio, Cathleen L.;
- Giampietro, Philip F.;
- Dobrin, Seth;
- Zhao, Chengfeng;
- Dorshorst, Donna;
- Ghebranious, Nader;
- Weber, James L.;
- Blank, Robert D.
Publication type:
Article
Identification of the oim mutation by dye terminator chemistry combined with automated direct DNA sequencing.
Published in:
Journal of Orthopaedic Research, 1998, v. 16, n. 1, p. 38, doi. 10.1002/jor.1100160107
By:
- Camacho, Nancy P.;
- Dow, David;
- Toledano, Talya R.;
- Buckmeyer, Jennifer K.;
- Gertner, Joseph M.;
- Brayton, Corey F.;
- Raggio, Cathleen L.;
- Root, Leon;
- Boskey, Adele L.
Publication type:
Article

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