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Select item 30580191.

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report

Maria Francesca Bedeschi, Vera Bianchi, Barbara Gentilin, Lorenzo Colombo, Federica Natacci, Sabrina Giglio, Elena Andreucci, Laura Trespidi, Barbara Acaia, Andrea Superti Furga, Faustina Lalatta

Orphanet J Rare Dis. 2011; 6: 7. Published online 2011 Feb 28. doi: 10.1186/1750-1172-6-7

PMCID:: PMC3058019

Abstract Article PDF–534K

Select item 28542512.

Pro416Arg cherubism mutation in Sh3bp2 knock-in mice affects osteoblasts and alters bone mineral and matrix properties

Chiachien J. Wang, I-Ping Chen, Boguslawa Koczon-Jaremko, Adele L. Boskey, Yasuyoshi Ueki, Liisa Kuhn, Ernst J. Reichenberger

Bone. Author manuscript; available in PMC 2011 May 1.

Published in final edited form as: Bone. 2010 May; 46(5): 1306–1315. Published online 2010 Feb 1. doi: 10.1016/j.bone.2010.01.380

PMCID:: PMC2854251

Abstract Article PDF–867K

Select item 28786173.

Cherubism Combined with Epilepsy, Mental Retardation and Gingival Fibromatosis (Ramon Syndrome): A Case Report

J. Suhanya, Chakshu Aggarwal, Khadijah Mohideen, S. Jayachandran, I. Ponniah

Head Neck Pathol. 2010 Jun; 4(2): 126–131. Published online 2009 Dec 11. doi: 10.1007/s12105-009-0155-9

PMCID:: PMC2878617

Abstract Article PDF–557K

Select item 29071174.

Enchondromatosis: insights on the different subtypes

Twinkal C Pansuriya, Herman M Kroon, Judith VMG Bovée

Int J Clin Exp Pathol. 2010; 3(6): 557–569. Published online 2010 Jun 26.

PMCID:: PMC2907117

Abstract Article PDF–3.0M

Select item 29122595.

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family

Sevjidmaa Baasanjav, Aleksander Jamsheer, Mateusz Kolanczyk, Denise Horn, Tomasz Latos, Katrin Hoffmann, Anna Latos-Bielenska, Stefan Mundlos

BMC Med Genet. 2010; 11: 110. Published online 2010 Jul 9. doi: 10.1186/1471-2350-11-110

PMCID:: PMC2912259

Abstract Article PDF–1.8M

Select item 29353556.

The G215R Mutation in the Cl⁻/H⁺-Antiporter ClC-7 Found in ADO II Osteopetrosis Does Not Abolish Function but Causes a Severe Trafficking Defect

Patrick Schulz, Johannes Werner, Tobias Stauber, Kim Henriksen, Klaus Fendler

PLoS One. 2010; 5(9): e12585. Published online 2010 Sep 7. doi: 10.1371/journal.pone.0012585

PMCID:: PMC2935355

Abstract Article PDF–403K

Select item 29472897.

No Haploinsufficiency but Loss of Heterozygosity for EXT in Multiple Osteochondromas

Christianne M.A. Reijnders, Cathelijn J.F. Waaijer, Andrew Hamilton, Emilie P. Buddingh, Sander P.D. Dijkstra, John Ham, Egbert Bakker, Karoly Szuhai, Marcel Karperien, Pancras C.W. Hogendoorn, Sally E. Stringer, Judith V.M.G. Bovée

Am J Pathol. 2010 Oct; 177(4): 1946–1957. doi: 10.2353/ajpath.2010.100296

PMCID:: PMC2947289

Abstract Article PDF–1.6M

Select item 29526788.

Skeletal muscle weakness in osteogeneis imperfecta mice

Bettina A Gentry, J. Andries Ferreira, Amanda J. McCambridge, Marybeth Brown, Charlotte L. Phillips

Matrix Biol. Author manuscript; available in PMC 2011 Sep 1.

Published in final edited form as: Matrix Biol. 2010 Sep; 29(7): 638–644. Published online 2010 Jul 6. doi: 10.1016/j.matbio.2010.06.006

PMCID:: PMC2952678

Abstract Article PDF–1.7M

Select item 29547669.

COL9A2 and COL9A3 mutations in canine autosomal recessive Oculo-skeletal Dysplasia

Orly Goldstein, Richard Guyon, Anna Kukekova, Sue Pearce-Kelling, Jennifer Johnson, Gustavo D. Aguirre, Gregory M. Acland

Mamm Genome. Author manuscript; available in PMC 2011 Aug 5.

Published in final edited form as: Mamm Genome. 2010 Aug; 21(7-8): 398–408. Published online 2010 Aug 5. doi: 10.1007/s00335-010-9276-4

PMCID:: PMC2954766

Abstract Article PDF–1.0M

Select item 298702010.

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

Fleur S Van Dijk, Isabel M Nesbitt, Peter G J Nikkels, Ann Dalton, Ernie M H F Bongers, Jiddeke M van de Kamp, Yvonne Hilhorst-Hofstee, Nicolette S Den Hollander, Augusta M A Lachmeijer, Carlo L Marcelis, Gita M B Tan-Sindhunata, Rick R van Rijn, Hanne Meijers-Heijboer, Jan M Cobben, Gerard Pals

Eur J Hum Genet. 2009 Dec; 17(12): 1560–1569. Published online 2009 Jun 24. doi: 10.1038/ejhg.2009.75

Correction in:: Eur J Hum Genet. 2009 Dec; 17(12): 1692.

PMCID:: PMC2987020

Abstract Article PDF–419K

Select item 299711811.

Nanoscale Morphology of Type I Collagen is Altered in the Brtl Mouse Model of Osteogenesis Imperfecta

Joseph M. Wallace, Bradford G. Orr, Joan C. Marini, Mark M. Banaszak Holl

J Struct Biol. Author manuscript; available in PMC 2012 Jan 1.

Published in final edited form as: J Struct Biol. 2011 Jan; 173(1): 146–152. Published online 2010 Aug 7. doi: 10.1016/j.jsb.2010.08.003

PMCID:: PMC2997118

Abstract Article PDF–999K

Select item 299993112.

Malformation syndromes caused by disorders of cholesterol synthesis

Forbes D. Porter, Gail E. Herman

J Lipid Res. 2011 Jan; 52(1): 6–34. doi: 10.1194/jlr.R009548

PMCID:: PMC2999931

Abstract Article PDF–1.4M

Select item 300567713.

Cleidocranial Dysplasia: A Case Report

Gülay Karagüzel, Filiz Azar Aktürk, Emelgül Okur, Halit Reşit Gümele, Yusuf Gedik, Ayşenur Ökten

J Clin Res Pediatr Endocrinol. 2010 Sep; 2(3): 134–136. Published online 2010 Aug 9. doi: 10.4274/jcrpe.v2i3.134

PMCID:: PMC3005677

Abstract Article PDF–133K

Select item 300575114.

Melnick−Needles Syndrome Associated with Growth Hormone Deficiency: A Case Report

Leyla Akın, Erdal Adal, Mustafa Ali Akın, Selim Kurtoğlu

J Clin Res Pediatr Endocrinol. 2009 Sep; 1(5): 248–251. Published online 2009 Aug 7. doi: 10.4274/jcrpe.v1i5.248

PMCID:: PMC3005751

Abstract Article PDF–186K

Select item 285043015.

Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta

Yasemin Alanay, Hrispima Avaygan, Natalia Camacho, G. Eda Utine, Koray Boduroglu, Dilek Aktas, Mehmet Alikasifoglu, Ergul Tuncbilek, Diclehan Orhan, Filiz Tiker Bakar, Bernard Zabel, Andrea Superti-Furga, Leena Bruckner-Tuderman, Cindy J.R. Curry, Shawna Pyott, Peter H. Byers, David R. Eyre, Dustin Baldridge, Brendan Lee, Amy E. Merrill, Elaine C. Davis, Daniel H. Cohn, Nurten Akarsu, Deborah Krakow

Am J Hum Genet. 2010 Apr 9; 86(4): 551–559. doi: 10.1016/j.ajhg.2010.02.022

Correction in:: Am J Hum Genet. 2010 Oct 8; 87(4): 572–573.

PMCID:: PMC2850430

Abstract Article PDF–1.2M

Select item 307739616.

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

Margot E. Bowen, Eric D. Boyden, Ingrid A. Holm, Belinda Campos-Xavier, Luisa Bonafé, Andrea Superti-Furga, Shiro Ikegawa, Valerie Cormier-Daire, Judith V. Bovée, Twinkal C. Pansuriya, Sérgio B. de Sousa, Ravi Savarirayan, Elena Andreucci, Miikka Vikkula, Livia Garavelli, Caroline Pottinger, Toshihiko Ogino, Akinori Sakai, Bianca M. Regazzoni, Wim Wuyts, Luca Sangiorgi, Elena Pedrini, Mei Zhu, Harry P. Kozakewich, James R. Kasser, Jon G. Seidman, Kyle C. Kurek, Matthew L. Warman

PLoS Genet. 2011 Apr; 7(4): e1002050. Published online 2011 Apr 14. doi: 10.1371/journal.pgen.1002050

PMCID:: PMC3077396

Abstract Article PDF–1023K

Select item 313550117.

Elena Andreucci, Salim Aftimos, Melanie Alcausin, Eric Haan, Warwick Hunter, Peter Kannu, Bronwyn Kerr, George McGillivray, RJ McKinlay Gardner, Maria G Patricelli, David Sillence, Elizabeth Thompson, Margaret Zacharin, Andreas Zankl, Shireen R Lamandé, Ravi Savarirayan

Orphanet J Rare Dis. 2011; 6: 37. Published online 2011 Jun 9. doi: 10.1186/1750-1172-6-37

PMCID:: PMC3135501

Abstract Article PDF–1.4M

Select item 314965718.

Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I

Alessandra Pangrazio, Eveline Boudin, Elke Piters, Giuseppe Damante, Nadia Lo Iacono, Angela Valentina D'Elia, Paolo Vezzoni, Wim Van Hul, Anna Villa, Cristina Sobacchi

Bone. 2011 Sep; 49(3): 568–571. doi: 10.1016/j.bone.2011.05.006

PMCID:: PMC3149657

Abstract Article

Select item 315288119.

Breakpoint characterization of large deletions in EXT1 or EXT2 in 10 Multiple Osteochondromas families

Ivy Jennes, Danielle de Jong, Kirsten Mees, Pancras CW Hogendoorn, Karoly Szuhai, Wim Wuyts

BMC Med Genet. 2011; 12: 85. Published online 2011 Jun 26. doi: 10.1186/1471-2350-12-85

PMCID:: PMC3152881

Abstract Article PDF–1.2M

Select item 315655520.

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

Joan C. Marini, Wayne A. Cabral, Aileen M. Barnes

Cell Tissue Res. Author manuscript; available in PMC 2011 Aug 16.

Published in final edited form as: Cell Tissue Res. 2010 Jan; 339(1): 59–70. Published online 2009 Oct 28. doi: 10.1007/s00441-009-0872-0

PMCID:: PMC3156555

Abstract Article PDF–332K

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