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Items: 1 to 20 of 308

1.
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
AbstractArticlePDF–999K
2.
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
AbstractArticlePDF–1.2M
3.
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
AbstractArticlePDF–867K
4.
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
AbstractArticlePDF–557K
5.
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
AbstractArticlePDF–3.0M
6.
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
AbstractArticlePDF–1.8M
7.
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
AbstractArticlePDF–403K
8.
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
AbstractArticlePDF–1.6M
9.
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
AbstractArticlePDF–1.0M
10.
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
AbstractArticlePDF–419K
11.
Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
Helena E. Christiansen, Ulrike Schwarze, Shawna M. Pyott, Abdulrahman AlSwaid, Mohammed Al Balwi, Shatha Alrasheed, Melanie G. Pepin, Mary Ann Weis, David R. Eyre, Peter H. Byers
Am J Hum Genet. 2010 Mar 12; 86(3): 389–398. doi: 10.1016/j.ajhg.2010.01.034
PMCID:
PMC2833387
AbstractArticlePDF–869K
12.
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
AbstractArticlePDF–133K
13.
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
AbstractArticlePDF–1023K
14.
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families
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
AbstractArticlePDF–1.4M
15.
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
AbstractArticle
16.
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
AbstractArticlePDF–1.2M
17.
Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding
Aileen M. Barnes, Erin M. Carter, Wayne A. Cabral, MaryAnn Weis, Weizhong Chang, Elena Makareeva, Sergey Leikin, Charles N. Rotimi, David R. Eyre, Cathleen L. Raggio, Joan C. Marini
N Engl J Med. Author manuscript; available in PMC 2011 Aug 16.
Published in final edited form as: N Engl J Med. 2010 Feb 11; 362(6): 521–528. Published online 2010 Jan 20. doi: 10.1056/NEJMoa0907705
PMCID:
PMC3156560
AbstractArticlePDF–1.8M
18.
Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome
Brian P Kelley, Fransiska Malfait, Luisa Bonafe, Dustin Baldridge, Erica Homan, Sofie Symoens, Andy Willaert, Nursel Elcioglu, Lionel Van Maldergem, Christine Verellen-Dumoulin, Yves Gillerot, Dobrawa Napierala, Deborah Krakow, Peter Beighton, Andrea Superti-Furga, Anne De Paepe, Brendan Lee
J Bone Miner Res. 2011 Mar; 26(3): 666–672. Published online 2010 Sep 13. doi: 10.1002/jbmr.250
PMCID:
PMC3179293
AbstractArticlePDF–235K
19.
Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type
Byung-Joo Min, Namshin Kim, Taesu Chung, Ok-Hwa Kim, Gen Nishimura, Chin Youb Chung, Hae Ryong Song, Hyun Woo Kim, Hye Ran Lee, Jiwoong Kim, Tae-Hoon Kang, Myung-Eui Seo, San-Deok Yang, Do-Hwan Kim, Seung-Bok Lee, Jong-Il Kim, Jeong-Sun Seo, Ji-Yeob Choi, Daehee Kang, Dongsup Kim, Woong-Yang Park, Tae-Joon Cho
Am J Hum Genet. 2011 Dec 9; 89(6): 760–766. doi: 10.1016/j.ajhg.2011.10.015
PMCID:
PMC3234366
AbstractArticlePDF–549K
20.
Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
Deborah Krakow, Joris Vriens, Natalia Camacho, Phi Luong, Hannah Deixler, Tara L. Funari, Carlos A. Bacino, Mira B. Irons, Ingrid A. Holm, Laurie Sadler, Ericka B. Okenfuss, Annelies Janssens, Thomas Voets, David L. Rimoin, Ralph S. Lachman, Bernd Nilius, Daniel H. Cohn
Am J Hum Genet. 2009 Mar 13; 84(3): 307–315. doi: 10.1016/j.ajhg.2009.01.021
PMCID:
PMC2667978
AbstractArticlePDF–757K

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