References+of+OI


 * References:**
 * (1.)**
 * **Genotype-Phenotype Correlations in Autosomal Dominant Osteogenesis Imperfecta** ||
 * Amor M.B, Glorieux F.H, Rauch, F. ||
 * Journal of __#|Osteoporosis__.2011. ||
 * doi: 10.4061/2011/540178 Artical ID 540178 ||


 * (2.)**
 * ****CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.**** ||
 * Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B. ||
 * Hum Mutat. 2008 Dec;29(12):1435-42. ||
 * PMID: 18566967 [PubMed - indexed for MEDLINE] Free PMC Article ||


 * (3.)**
 * **EMQN Best Practice Guidelines for the Laboratory Diagnosis of Osteogenesis Imperfecta** ||
 * Fleur S van Dijk [|1] , Peter H Byers [|2] , Raymond Dalgleish [|3] , Fransiska Malfait [|4] , Alessandra Maugeri [|1] , Marianne Rohrbach [|5] , Sofie Symoens [|4] , Erik A Sistermans [|1] <span style="font-family: Verdana,sans-serif; font-size: 10pt;"> and Gerard Pals <span style="color: #663399; font-family: Verdana,sans-serif; font-size: 10pt;">[|1] ||
 * European Journal of Human Genetics. 2011 Aug;20:11-19. ||
 * doi:10.1038/ejhg.2011.141 ||


 * (4.)**


 * **Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations in 15 Patients with Osteogenesis Imperfecta Type1: Identification of Common Sequences of Null-Allele Mutations** Korkko J., Ala-Kokko L., De Paepe A., Nuytinck L., Earley J., Prockop D.J. ||
 * American Journal of Human Genetics. 1998:62:98-110. ||

Lindahl K, Barnes AM, Fratzl-Zelman N, Whyte MP, Hefferan TE, Makareeva E, Brusel M, Yaszemski MJ, Rubin CJ, Kindmark A, Roschger P, Klaushofer K, McAlister WH, Mumm S, Leikin S, Kessler E, Boskey AL, Ljunggren O, Marini JC. ||
 * <span style="font-family: Verdana,sans-serif;">(5.) **
 * **COL1 C-propeptide cleavage site mutations cause high bone mass Osteogenesis imperfecta**.
 * Hum Mutat. 2011 Jun;32(6):598-609. doi: 10.1002/humu.21475. Epub 2011 Apr 7. ||
 * PMID: 21344539 [PubMed - indexed for MEDLINE]**Free PMC Article** ||


 * <span style="font-family: Verdana,sans-serif;">(6.) **
 * ****Skeletal progenitors and the GNAS gene: fibrous dysplasia of bone read through stem cells.**** ||
 * Riminucci M, Robey PG, Saggio I, Bianco P. ||
 * J Mol Endocrinol. 2010 Dec;45(6):355-64. Epub 2010 Sep 14. Review. ||
 * PMID: 20841428 [PubMed - indexed for MEDLINE]**Free PMC Article** ||


 * <span style="font-family: Verdana,sans-serif;">(7.) **
 * ****Osteogenesis Imperfecta: A Review with Clinical Examples** . ** ||
 * Van Dijk FS, Cobben JM, Kariminejad A, Maugeri A, Nikkels PG, van Rijn RR, Pals G. ||
 * Mol Syndromol. 2011 Dec;2(1):1-20. Epub 2011 Oct 12. ||
 * PMID: 22570641 [PubMed]**Free PMC Article** ||


 * Bioinformatic Tools**
 * 1. Geneious** - A DNA, RNA and protein sequence alignment, assembly and analysis software platform, integrating bioinformatic and molecular biology tools into a simple interface.

**3. BLASTp** - Basic local alignment search for proteins used to find similarities and differences among different species using amino acid sequences.
 * 2. Molecule Evolutionary Genetic Analysis (MEGA)** - An integrated tool for conducting sequence alignment, inferring phylogenetic trees, mining web-based databases, estimating rates of molecular evolution, inferring ancestral sequences, and testing evolutionary hypotheses. MEGA is used by biologists in a large number of laboratories for reconstructing the evolutionary histories of species and inferring the extent and nature of selective forces shaping the evolution of genes and species.

**4. Online Mendelian Inheritance in Man (OMIM)** - Online catalog of human genes and genetic disorders.


 * What is Osteogenesis Imperfecta? ||= Classification ||= The Genes Involved ||= Diagnosis and Treatment ||= References ||

Research by: Stacey St.Hilaire #|University of New Hampshire at Manchester Genomics and Bioinformatics