81. Clinical Nuclear Medicine - UserLogin An 18year-old girl with cleidocranial dysplasia (CLCD) was admitted to our clinicfor cleidocranial dysplasia; bone scintigraphy; clavicular defect http://www.nuclearmed.com/pt/re/cnm/fulltext.00003072-200401000-00018.htm

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82. UniProtKB/Swiss-Prot Entry Q13950 [RUNX2_HUMAN] Runt-related Transcription Facto PEBP2alphaA/CBFA1 mutations in Japanese cleidocranial dysplasia patients. ; DISEASE Defects in RUNX2 are the cause of cleidocranial dysplasia (CCD) http://www.expasy.org/uniprot/Q13950

ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot Search Swiss-Prot/TrEMBL Swiss-Prot/TrEMBL (full text) PROSITE SWISS-2DPAGE ENZYME NEWT Taxonomy HAMAP families ExPASy web site for The ExPASy Server requires Javascript to be fully functional. You may not see all the information available for this page (More information) UniProtKB/Swiss-Prot entry Entry info Name and origin References Comments ... Tools Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents Entry information Entry name Primary accession number Secondary accession numbers Entered in Swiss-Prot in Release 41, February 2003 Sequence was last modified in Release 41, February 2003 Annotations were last modified in Release 48, September 2005 Name and origin of the protein Protein name Runt-related transcription factor 2 Synonyms Core-binding factor, alpha 1 subunit CBF-alpha 1 Acute myeloid leukemia 3 protein Oncogene AML-3 Polyomavirus enhancer binding protein 2 alpha A subunit PEBP2-alpha A PEA2-alpha A SL3-3 enhancer factor 1 alpha A subunit SL3/AKV core-binding factor alpha A subunit Osteoblast-specific transcription factor 2 OSF-2 Gene name Name: Synonyms: From Homo sapiens (Human) TaxID Taxonomy ... References NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1 AND 2), VARIANT CCD ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-ALA-84 INS, AND VARIANT 78-ALAALA-83 DEL.

83. Entrez PubMed cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associatedwith clavicle hypoplasia and dental abnormalities. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

84. Entrez PubMed Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential forosteoblast differentiation and bone development. Otto F, Thornell AP, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9

85. RUNX2 CM021321, 53, CAACTA, Gln-Leu, cleidocranial dysplasia, 1. CM020505, 64, gCAG-TAG,Gln-Term, cleidocranial dysplasia, 2. CM020506, 66, aCAG-TAG, Gln-Term http://www.uwcm.ac.uk/uwcm/mg/ns/1/392082.html

Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference CAA-CTA Gln-Leu Cleidocranial dysplasia gCAG-TAG Gln-Term Cleidocranial dysplasia aCAG-TAG Gln-Term Cleidocranial dysplasia CTC-CGC Leu-Arg Cleidocranial dysplasia AGCc-AGG Ser-Arg Cleidocranial dysplasia TTC-TGC Phe-Cys Cleidocranial dysplasia TGG-TAG Trp-Term Cleidocranial dysplasia cGGA-AGA Gly-Arg Cleidocranial dysplasia cGGA-TGA Gly-Term Cleidocranial dysplasia GTC-GGC Val-Gly Cleidocranial dysplasia CGG-CCG Arg-Pro Cleidocranial dysplasia CGG-CAG Arg-Gln Cleidocranial dysplasia ATG-AGG Met-Arg Cleidocranial dysplasia cCGG-TGG Arg-Trp Cleidocranial dysplasia CGG-CAG Arg-Gln Cleidocranial dysplasia AGT-AAT Ser-Asn Cleidocranial dysplasia aCGA-TGA Arg-Term Cleidocranial dysplasia TTC-TCC Phe-Ser Cleidocranial dysplasia TTGa-TTC Leu-Phe Cleidocranial dysplasia gACC-GCC Thr-Ala Cleidocranial dysplasia ATA-AAA Ile-Lys Cleidocranial dysplasia ACA-AGA Thr-Arg Cleidocranial dysplasia cCAA-TAA Gln-Term Cleidocranial dysplasia CAA-CGA Gln-Arg Cleidocranial dysplasia AAAg-AAT Lys-Asn Cleidocranial dysplasia ACA-ATA Thr-Ile Cleidocranial dysplasia GTA-GGA Val-Gly Cleidocranial dysplasia tCGG-TGG Arg-Trp Cleidocranial dysplasia CGG-CAG Arg-Gln Cleidocranial dysplasia aCAA-TAA Gln-Term Cleidocranial dysplasia TGGt-TGA Trp-Term Cleidocranial dysplasia GCA-GTA Ala-Val Cleidocranial dysplasia aCGA-TGA Arg-Term Cleidocranial dysplasia TGA-TCA Term-Ser Cleidocranial dysplasia References 1 - Machuca-Tzili (2002) Clin Genet 2 - Otto (2002) Hum Mutat ... Cell HGMD

86. CCDD: Family: Education: Descriptions Of Disorders cleidocranial dysplasia (Cleidocranial Dysostosis) cleidocranial dysplasia isa genetic condition that features problems with the development of bones and http://www.hopkinsmedicine.org/craniofacial/Education/Disorders.cfm?Source=Famil

87. OMIM Entry 600211 .0002 cleidocranial dysplasia. RUNX2, TRP283TER. A sporadic case of cleidocranialdysplasia (119600) was found to be caused by heterozygosity for a Gto-A http://www.hgmp.mrc.ac.uk/cgi-bin/wrapomim?600211

88. Orthoguide.com Cleidocranial Dysplasia Search AltaVista for cleidocranial dysplasia Global Search Add Url - FreeMedline - Contact Us - Search. Enter Keywords to Search and Your Choice of http://www.orthoguide.com/ortho/Cleidocranial_Dysplasia.php3

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89. Opera Directory MedicineNet.com cleidocranial dysplasia. Basic information. National Library ofMedicine cleidocranial dysplasia (CCD, CLCD) http://portal.opera.com/web/?cat=523622

90. Expression And Functions Of TCF-4 In Cleidocranial Dysplasia cleidocranial dysplasia (CCD) is an autosomal dominant disease resulting inclavicle hypoplasia, patent fontanel, lack of primary teeth resorption, http://iadr.confex.com/iadr/2004Hawaii/techprogram/abstract_47852.htm

2971 Expression and Functions of TCF-4 in Cleidocranial Dysplasia A. NGUYEN , M. MACDOUGALL, and P. PAPAGERAKIS, University of Texas - San Antonio / Health Science Ctr, USA Seq #322 - Junior Category 10:15 AM-11:30 AM, Saturday, 13 March 2004 Hawaii Convention Center Exhibit Hall 1-2 Back to the AADR/Pfizer Hatton Awards Program Back to the IADR/AADR/CADR 82nd General Session (March 10-13, 2004) Top Level Search

91. Molecular Mechanisms Of Cleidocranial Dysplasia cleidocranial dysplasia (CCD), characterized by abnormal bone, tooth and periodontaltissue formation and supernumerary and impacted teeth, http://iadr.confex.com/iadr/2004Hawaii/techprogram/abstract_47822.htm

1079 Molecular Mechanisms of Cleidocranial Dysplasia P. PAPAGERAKIS , and M. MACDOUGALL, University of Texas - San Antonio / Health Science Ctr, USA Seq #114 - Genetic Polymorphism in Periodontal Diseases 10:15 AM-11:30 AM, Thursday, 11 March 2004 Hawaii Convention Center Exhibit Hall 1-2 Back to the Periodontal Research - Pathogenesis Program Back to the IADR/AADR/CADR 82nd General Session (March 10-13, 2004) Top Level Search

92. Spondylo-megaepiphyseal-metaphyseal Dysplasia: A New Bone Dysplasia Resembling C a generalized bone dysplasia that resembles severe cleidocranial dysplasia but variant forms of cleidocranial dysplasia described in the literature. http://radiology.rsnajnls.org/cgi/content/abstract/156/2/365

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Silverman, F. N. Articles by Reiley, M. A. ARTICLES Spondylo-megaepiphyseal-metaphyseal dysplasia: a new bone dysplasia resembling cleidocranial dysplasia FN Silverman and MA Reiley Eight patients are presented who have a generalized bone dysplasia that resembles severe cleidocranial dysplasia but lacks the cranial and clavicular features of that well-defined condition. Vertebral-body ossification is markedly defective, and ossification centers of the tubular bones are grossly enlarged. These patients also differ from those with variant forms of cleidocranial dysplasia described in the literature. It is

93. Bioline International Official Site (site Up-dated Regularly) A diagnosis of cleidocranial dysplasia was made. Discussion. cleidocranial dysplasiais an autosomal dominant condition with generalised dysplasia of bone http://www.bioline.org.br/request?jp01058

94. Bioline International Official Site (site Up-dated Regularly) Images in Medicine cleidocranial dysplasia Gulati S, Kabra M. Abstract A diagnosis of cleidocranial dysplasia was made. http://www.bioline.org.br/abstract?id=jp01058&lang=en

95. Pregnancy & Parenting: For Today's Mom - IVillage A Case of cleidocranial dysplasia Confirmed by 3D CT of the cleidocranial dysplasia (CCD) is an autosomal dominant disorder Facial anddental anomalies in cleidocranial dysplasia a study of 17 cases. http://www.parentsplace.com/expert/dentist/general/qa/0,3459,6766,00.html

var iv_cimsUid = ""; var iv_cimsCid = "12"; // Tacoda category stamp var dartCatStamp = "parenting"; Tacoda_AMS_DDC_addPair("dartCatStamp", dartCatStamp); @import "/shared/css/global/0,,,00.css"; @import "/shared/css/touts/0,,,00.css"; @import "/shared/css/layout/0,,flyout,00.css"; @import "/shared/css/content/0,,channelhome,00.css"; @import "/shared/css/channel/0,,12,00.css"; Skip to Main Content iVillage Entertainment Magazines iVillage web Trying to Conceive Fertility Planner Fertility Signs Getting Ready ... Trying after Loss Recommended Links Get pregnant faster! Pregnancy Week-by-Week Guide Pregnancy Calendar ... Newborn Care Recommended Links Go-to-Sleep Methods Send us your baby's photo! Baby Baby Steps Calendar ... Travel Recommended Links Send us your baby's photo! New Research: Moms Today Toddler/ Preschooler Behavior ... Sleep Recommended Links New Research: Moms Today Grade-Schooler Behavior Celebrations ... Sleep Recommended Links New Research: Moms Today Tween Behavior Celebrations ... Social Life Recommended Links NEW RESEARCH: Moms Today Teen Behavior Development ... Social Life Recommended Links New Research: Moms Today Being a Mom Family Finances Family Structure ... Time for Yourself Recommended Links New Research: Moms Today Stuff We Love Recommended Links Photo Keepsakes Crafts for Kids Family Time Activities Baby Names ... Peg Plumbo, CNM, Nurse-Midwife

96. UW Radiology Main Online Teaching File: Case 45 Answers dysplasia indicates an abnormality in the development of bone, and cleido (clavicle)and cranial (head) tell us where major abnormalities occur. http://www.rad.washington.edu/maintf/cases/unk45/answers.html

UW Radiology Main Online Teaching File UW Radiology Home Unknown Cases in Random Order Musculoskeletal Cases Only Breast Cases Only ... Search this site UW Radiology Main Online Teaching File: Case 45 Answers Cleidocranial dysplasia. PA radiograph of the chest This is an autosomal dominant disorder whose very name tells us a lot about it. Dysplasia indicates an abnormality in the development of bone, and cleido- (clavicle) and cranial (head) tell us where major abnormalities occur. This disorder occurs in both membranous and enchondral bone, and has a striking propensity for affecting midline structures. If you painted a big, broad stripe down the midline with a paintbrush from skull to groin, you'd paint over a lot of structures involved with this syndrome. Prominent features include a large head with delayed suture closure, Wormian bones, hypertelorism, a small face, dental dysplasia, hypoplasia or aplasia of the clavicles, a narrow pelvis, and several varieties of spinal abnormalities. Just about every other bone in the body may be involved as well, including the ossicles of the ear. Despite the midline tendency, the appendicular skeleton is also frequently involved. AP radiographs of the skull and pelvis.

97. Health/Conditions And Diseases/Rare Disorders/Cleidocranial Dysplasia -- The Doc Ask the doctor. Get free medical consultation and advice. Choose a medicalspecialist and post your question! Doctors in all medical fields are available. http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Rare_Disorder

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... MedicineNet.com: Cleidocranial Dysplasia Basic information. url: National Library of Medicine: Cleidocranial Dysplasia (CCD, CLCD) A list of synonyms, summary and major features. url: www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome2... A Natural History of Cleidocranial Dysplasia An article from Baylor College of Medicine. url: www.faseb.org/genetics/ashg99/f181.htm mozilla.org url: www.mozilla.org/ Wikipedia url: en.wikipedia.org/ edit url: editors.dmoz.org/editors/editcat.cgi?cat=Health/Co... More Search All the Web AltaVista Gigablast Google USENET ... Yahoo In association with ODP Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Are you a physician or a nurse?

98. Www.medicinenet.com/rss/specialty/Cleidocranial_Dy http://www.medicinenet.com/rss/specialty/Cleidocranial_Dysplasia.xml

http://www.medicinenet.com/Cleidocranial_Dysplasia/index.htm MedicineNet Cleidocranial Dysplasia Specialty en-us Tue, 9 Aug 2005 00:00:00 PDT Tue, 9 Aug 2005 00:00:00 PDT http://www.medicinenet.com/images/mn_144x35.gif http://www.medicinenet.com/script/main/hp.asp Tue, 9 Aug 2005 00:00:00 PDT Thu, 14 Jul 2005 00:00:00 PDT Fri, 13 May 2005 00:00:00 PDT

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