reducido de resultados

169 B

17 M

2 M

547

533

to ~41 options

options split into images, definition, symptoms, related diagnoses, diagnostic tests, therapies, and medications

categoría ósea y metabolismo mineral, genética o congénita, orthopedics frecuencia rara (U.S.)

riesgo por la edad

riesgo por la duración de los síntomas

otros tipos médico family practitioner internist metabolic specialist código postal Buscar local Los resultados generados por computadora son sugerencias para ayudarle a encontrar un médico. MEDgle no recomienda ningún tipo de médico o pretenden ser completos o precisos en los proveedores y sugirió especialidades.

osteogénesis imperfecta tipo i - la enfermedad genética de los huesos causando fracturas frecuentes Definición de osteogénesis imperfecta tipo I Osteogenesis imperfecta (sometimes known as Brittle Bone Disease) is a group of genetic bone disorders. más Osteogenesis imperfecta (sometimes known as Brittle Bone Disease) is a group of genetic bone disorders. It is one of the brittle bone diseases. People with OI either have less collagen than normal or the quality is poorer than normal. As collagen is an important protein in bone structure, this impairment causes those with the condition to have weak or fragile bones. less algunos síntomas comunes ojos azules los huesos se rompan fácilmente osteoporosis pain during walking algunos diagnósticos relacionados 1 - 7 of 40 diagnósticos osteoporosis osteodistrofia renal talasemia intermedia la desnutrición hiperparatiroidismo osteomalacia osteocondroma   más do i have 'osteogénesis imperfecta tipo I'? Además las siguientes pruebas de diagnóstico puede ser necesario para ayudar a verificar el diagnóstico: prueba de diagnóstico de los resultados de la búsqueda 'osteogénesis imperfecta tipo i' 1 - 5 of 16 pruebas de diagnóstico Biopsia osteogénesis imperfecta tipo I y Biopsia Los estudios genéticos moleculares osteogénesis imperfecta tipo I y Los estudios genéticos moleculares La densidad ósea de escaneo DEXA scan osteogénesis imperfecta tipo I y La densidad ósea de escaneo La radiografía de tórax Radiological technique to image the chest osteogénesis imperfecta tipo I y La radiografía de tórax Prueba de audición standard technique of representing hearing loss osteogénesis imperfecta tipo I y Prueba de audición El ultrasonido prenatal Ultrasound on the fetus before birth osteogénesis imperfecta tipo I y El ultrasonido prenatal Esquelético encuesta radiografía osteogénesis imperfecta tipo I y Esquelético encuesta radiografía X-ray extremidades osteogénesis imperfecta tipo I y X-ray extremidades X-ray pelvis osteogénesis imperfecta tipo I y X-ray pelvis Rayos X del cráneo osteogénesis imperfecta tipo I y Rayos X del cráneo De rayos X columna vertebral osteogénesis imperfecta tipo I y De rayos X columna vertebral Rayos-X osteogénesis imperfecta tipo I y Rayos-X Prueba del vello coriónico CVS osteogénesis imperfecta tipo I y Prueba del vello coriónico CVS Biopsia con aguja osteogénesis imperfecta tipo I y Biopsia con aguja biopsia por punción percutánea osteogénesis imperfecta tipo I y biopsia por punción percutánea umbral de recepción del lenguaje TER osteogénesis imperfecta tipo I y umbral de recepción del lenguaje TER para obtener más ingreso por favor, es de acceso libre (haga clic aquí para acceder) procedimientos terapéuticos para 'osteogénesis imperfecta tipo I'? La gestión o tratamiento de enfermedades debe ser siempre determinada por un proveedor de servicios de salud los pacientes. Abajo hay una lista de asociados procedimientos terapéuticos o medicamentos para osteogenesis imperfecta type I: resultados terapéuticos procedimiento de buscar 'osteogénesis imperfecta tipo i' 1 - 1 of 1 procedimientos terapéuticos clasificación son generadas por ordenador. por favor consulte a su proveedor de atención médica. Ortopedia Cuidado Quirúrgico osteogénesis imperfecta tipo I y Ortopedia Cuidado Quirúrgico medicamentos para los resultados de la búsqueda 'osteogénesis imperfecta tipo i' clasificación son generadas por ordenador. por favor consulte a su proveedor de atención médica. resultados de la búsqueda web para osteogénesis imperfecta tipo i Web (Todos)  |  El tratamiento  |  Drogas  |  Pruebas  |  La investigación  |  Dieta Los resultados 1 - 50 - osteogenesis imperfecta type I Osteogenesis imperfecta type III: an ancient mutation in Africa? [Traducir esta página] Osteogenesis imperfecta type III: an ancient mutation in Africa? Viljoen D, Beighton P. ... with osteogenesis imperfecta (OI) were identified; 42 had the rare ... http://www.ncbi.nlm.nih.gov/pubmed/3425600   www.ncbi.nlm.nih.gov - summary Osteogenesis imperfecta - Wikipedia, the free encyclopedia [Traducir esta página] Type V osteogenesis imperfecta: a new form of brittle bone disease". J. Bone Miner. ... Osteogenesis imperfecta type III: an ancient mutation in Africa?". Am. ... http://en.wikipedia.org/wiki/Osteogenesis_imperfecta   en.wikipedia.org - summary Osteogenesis Imperfecta - Yahoo! Health [Traducir esta página] ... is possible that the main title of the report Osteogenesis Imperfecta is not the name you expected. Please check the ... Osteogenesis Imperfecta Type I ... http://health.yahoo.com/musculoskeletal-resources/osteogenes...   health.yahoo.com - summary COL1A1 - collagen, type I, alpha 1 - Genetics Home Reference [Traducir esta página] ... that are responsible for osteogenesis imperfecta type I, the mildest form of ... fragility and other characteristic features of osteogenesis imperfecta type I. ... http://ghr.nlm.nih.gov/gene=col1a1   ghr.nlm.nih.gov - summary A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis ... [Traducir esta página] ... in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family. ... BACKGROUND: Osteogenesis imperfecta (OI), also known as brittle bone disease, is ... http://www.ncbi.nlm.nih.gov/pubmed/18755172   www.ncbi.nlm.nih.gov - summary Osteogenesis imperfecta [Traducir esta página] Because type I collagen is also found in ligaments, persons with OI often have ... The severe form of type II osteogenesis imperfecta can be seen on ultrasound ... http://adam.about.com/encyclopedia/infectiousdiseases/Osteog...   adam.about.com - summary MedlinePlus Medical Encyclopedia: Osteogenesis imperfecta [Traducir esta página] Because type I collagen is also found in ligaments, persons with OI often have ... The severe form of type II osteogenesis imperfecta can be seen on ultrasound ... http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm   www.nlm.nih.gov - summary COL1A2 - collagen, type I, alpha 2 - Genetics Home Reference [Traducir esta página] osteogenesis imperfecta - caused by mutations in the COL1A2 gene ... this gene occasionally cause osteogenesis imperfecta type I, the mildest form of ... http://ghr.nlm.nih.gov/gene=col1a2   ghr.nlm.nih.gov - summary Osteogenesis Imperfecta [Traducir esta página] Osteogenesis imperfecta (OI) is a skeletal disease characterized by unusually ... The collagen in Type I OI is normal, but the amount produced is less than normal. ... http://www.clevelandclinic.org/health/health-info/docs/2600/2610.asp?index=9500:   www.clevelandclinic.org - summary Collagen, type I, alpha 1 - Wikipedia, the free encyclopedia [Traducir esta página] Osteogenesis imperfecta, type I: Osteogenesis imperfecta is the most common ... Osteogenesis imperfecta, type III: Mutations in the COL1A1 gene may result in ... http://en.wikipedia.org/wiki/Collagen,_type_I,_alpha_1   en.wikipedia.org - summary Osteogenesis Imperfecta: Bone and Connective Tissue Disorders in ... [Traducir esta página] There are 4 main types of osteogenesis imperfecta (OI); types I and IV are ... Type I is the mildest. ... Analysis of type I procollagen (a structural ... http://www.merck.com/mmpe/print/sec19/ch284/ch284f.html   www.merck.com - summary Osteogenesis Imperfecta: Bone and Connective Tissue Disorders in ... [Traducir esta página] Osteogenesis imperfecta is a hereditary collagen ... There are 4 main types of osteogenesis imperfecta (OI); types I and IV are ... Type I is the mildest. ... http://merck.com/mmpe/sec19/ch284/ch284f.html   merck.com - summary Osteogenesis imperfecta - Genetics Home Reference [Traducir esta página] Type I is the mildest form of osteogenesis imperfecta and type II is the most ... Many people with type I or type IV osteogenesis imperfecta inherit a mutation ... http://ghr.nlm.nih.gov/condition=osteogenesisimperfecta   ghr.nlm.nih.gov - summary Osteogenesis Imperfecta -- GeneReviews -- NCBI Bookshelf [Traducir esta página] Table B. OMIM Entries for Osteogenesis Imperfecta. 120150. COLLAGEN, TYPE I, ALPHA-1; COL1A1 ... in osteogenesis imperfecta with quantitative defect of type I ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oi   www.ncbi.nlm.nih.gov - summary Dentinogenesis Imperfecta Type III - Yahoo! Health [Traducir esta página] ... that the main title of the report Dentinogenesis Imperfecta Type III is not the name you expected. Please check ... by osteogenesis imperfecta, and the ... http://health.yahoo.com/oralcare-resources/dentinogenesis-im...   health.yahoo.com - summary MedlinePlus: Osteogenesis Imperfecta [Traducir esta página] Social and Emotional Issues of Living with OI(Osteogenesis Imperfecta Foundation) ... Type I - Understanding the Mildest Form of Osteogenesis Imperfecta(National ... http://www.nlm.nih.gov/medlineplus/osteogenesisimperfecta.html   www.nlm.nih.gov - summary Dentinogenesis imperfecta - Wikipedia, the free encyclopedia [Traducir esta página] Type I: Occurs in people who have osteogenesis imperfecta, a genetic condition ... Type I occurs as part of osteogenesis imperfecta, which is caused by mutations ... http://en.wikipedia.org/wiki/Dentinogenesis_imperfecta   en.wikipedia.org - summary Osteogenesis imperfecta. [Traducir esta página] Osteogenesis imperfecta (OI) is a genetically determined disorder of connective ... disorders that result from mutations in the genes that code for type I collagen. ... http://www.ncbi.nlm.nih.gov/pubmed/9682085   www.ncbi.nlm.nih.gov - summary Orphanet: Osteogenesis imperfecta [Traducir esta página] Osteogenesis imperfecta (OI) is a group of inherited diseases responsible for ... Type I: moderate form with autosomal dominant transmission, characterized by ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=666   www.orpha.net - summary Dentinogenesis imperfecta - Genetics Home Reference [Traducir esta página] Type I occurs in people who have osteogenesis imperfecta, a genetic condition in ... I occurs as part of osteogenesis imperfecta, which is caused by mutations in one ... http://ghr.nlm.nih.gov/condition=dentinogenesisimperfecta   ghr.nlm.nih.gov - summary Osteogenesis imperfecta [Traducir esta página] Osteogenesis imperfecta is a congenital (present from birth) condition of ... (or even before birth) to Type I OI, which may be so mild that the diagnosis is ... http://adam.about.com/encyclopedia/001573sym.htm   adam.about.com - summary Osteogenesis imperfecta type VI: a form of brittle bone disease with a ... [Traducir esta página] Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect. ... formation without evidence of mutations in type I collagen. ... http://www.ncbi.nlm.nih.gov/pubmed/11771667?ordinalpos=7&ito...   www.ncbi.nlm.nih.gov - summary Osteogenesis imperfecta - OMIM - Genetic disorder catalog - Genetics ... [Traducir esta página] OMIM: Osteogenesis imperfecta, type I. OMIM: Osteogenesis imperfecta, type IIA ... OMIM: Osteogenesis imperfecta, type VIII. Reviewed: November 2007. Published: ... http://ghr.nlm.nih.gov/condition=osteogenesisimperfecta/show/OMIM   ghr.nlm.nih.gov - summary Osteogenesis imperfecta type VII: an autosomal recessive form of ... [Traducir esta página] Osteogenesis imperfecta type VII: an autosomal recessive ... Osteogenesis Imperfecta/radiography. Pedigree. Substances: Collagen Type I. alpha 2(I) collagen ... http://www.ncbi.nlm.nih.gov/pubmed/12110406?ordinalpos=10&it...   www.ncbi.nlm.nih.gov - summary Osteogenesis imperfecta: clinical, biochemical and molecular findings. [Traducir esta página] A causal mutation in either type I collagen gene was identified in 20 of them: ... Osteogenesis Imperfecta/physiopathology. Pregnancy. Substances: Collagen Type I ... http://www.ncbi.nlm.nih.gov/pubmed/16879195   www.ncbi.nlm.nih.gov - summary Retinal hemorrhages in type I osteogenesis imperfecta after minor trauma. [Traducir esta página] ... report 3 patients with type I osteogenesis imperfecta (OI) who developed retinal ... RESULTS: Three patients with type I OI who presented to the emergency ... http://www.ncbi.nlm.nih.gov/pubmed/15234150   www.ncbi.nlm.nih.gov - summary Osteogenesis imperfecta - Related Gene(s) - Genetics Home Reference [Traducir esta página] Genetic Conditions > osteogenesis imperfecta > Related Gene(s) COL1A1: collagen, type I, alpha 1. COL1A2: collagen, type I, alpha 2 ... http://ghr.nlm.nih.gov/condition=osteogenesisimperfecta/show/Related+Gene(s)   ghr.nlm.nih.gov - summary Gene symbol: COL1A2. Disease: osteogenesis imperfecta type II. [Traducir esta página] Disease: osteogenesis imperfecta type II. Tinkle BT, Miller E, Schorry EK. ... Substances: alpha 2(I) collagen. Collagen. PMID: 17128474 [PubMed - indexed for ... http://www.ncbi.nlm.nih.gov/pubmed/17128474   www.ncbi.nlm.nih.gov - summary COL1A1 - NextBio [Traducir esta página] COL1A1: This gene encodes the major component of type I collagen, the fibrillar collagen found in most connective ... imperfecta t... Osteogenesis imperfecta ... http://www.nextbio.com/b/home/home.nb?q=COL1A1   www.nextbio.com - summary Type V osteogenesis imperfecta: a new form of brittle bone disease. [Traducir esta página] Osteogenesis imperfecta (OI) is commonly subdivided into four clinical types. ... urinary collagen type I N-telopeptide excretion increased markedly during ... http://www.ncbi.nlm.nih.gov/pubmed/10976985   www.ncbi.nlm.nih.gov - summary Osteogenesis imperfecta [Traducir esta página] osteogenesis imperfecta type III in the Black. population of South ... family with type I-A osteogenesis imperfecta. Metabolism 42 (1994), pp. 1261-1265. ... http://www.orpha.net/data/patho/GB/uk-OI.pdf   www.orpha.net - summary Structural heterogeneity of type I collagen triple helix and its role ... [Traducir esta página] ... of type I collagen triple helix and its role in osteogenesis imperfecta. ... Collagen Type I/chemistry* Humans. Osteogenesis Imperfecta* Peptide Mapping ... http://www.ncbi.nlm.nih.gov/pubmed/18073209?dopt   www.ncbi.nlm.nih.gov - summary Mutational spectrum of type I collagen genes in Korean patients with ... [Traducir esta página] Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. ... connective tissue disorder osteogenesis imperfecta (OI) ... http://www.ncbi.nlm.nih.gov/pubmed/16705691   www.ncbi.nlm.nih.gov - summary Chromosome 17 (human) - Wikipedia, the free encyclopedia [Traducir esta página] Osteogenesis imperfecta. Osteogenesis Imperfecta, Type I. Osteogenesis Imperfecta, Type II ... Osteogenesis Imperfecta, Type III. Osteogenesis Imperfecta, Type ... http://en.wikipedia.org/wiki/Chromosome_17_(human)   en.wikipedia.org - summary Defective C-propeptides of the proalpha2(I) chain of type I procollagen ... [Traducir esta página] ... I procollagen impede molecular assembly and result in osteogenesis imperfecta. ... Osteogenesis Imperfecta/pathology. Pedigree. Protein Structure, ... http://www.ncbi.nlm.nih.gov/pubmed/18375391   www.ncbi.nlm.nih.gov - summary Two novel COL1A1 mutations in patients with osteogenesis imperfecta (OI ... [Traducir esta página] ... with osteogenesis imperfecta (OI) affect the stability of the collagen type I triple-helix. ... Osteogenesis imperfecta (OI) is a bone dysplasia caused by ... http://www.ncbi.nlm.nih.gov/pubmed/18670065   www.ncbi.nlm.nih.gov - summary Chromosome 7 (human) - Wikipedia, the free encyclopedia [Traducir esta página] osteogenesis imperfecta. osteogenesis imperfecta, type I. osteogenesis imperfecta, type II. osteogenesis imperfecta, type III. osteogenesis imperfecta, type IV ... http://en.wikipedia.org/wiki/Chromosome_7_(human)   en.wikipedia.org - summary Osteogenesis Imperfecta: Hereditary Connective Tissue Disorders: Merck ... [Traducir esta página] Osteogenesis imperfecta is a group of disorders of bone formation that make the ... This most severe type is lethal, and the infant can die either before childbirth ... https://www.merck.com/mmhe/print/sec23/ch279/ch279f.html   /www.merck.com - summary Genetic and biochemical analyses of Israeli osteogenesis imperfecta ... [Traducir esta página] Osteogenesis imperfecta (OI) is clinically characterized by abnormal bone ... Osteogenesis Imperfecta/metabolism. Procollagen/metabolism. Substances: Collagen Type I ... http://www.ncbi.nlm.nih.gov/pubmed/15024745?dopt=Abstract   www.ncbi.nlm.nih.gov - summary COL1A2 - NextBio [Traducir esta página] COL1A2: This gene encodes one of the chains for type I collagen, the fibrillar collagen found in most connective ... Mouse Phenotypes - Osteogenesis imperfecta ... http://www.nextbio.com/b/home/home.nb?q=COL1A2   www.nextbio.com - summary COL1A1 - References - Genetics Home Reference [Traducir esta página] ... (I) collagen cause combined osteogenesis imperfecta/Ehlers ... COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. Hum Mutat. ... http://ghr.nlm.nih.gov/gene=col1a1/show/References   ghr.nlm.nih.gov - summary Osteogenesis imperfecta: prospects for molecular therapeutics. [Traducir esta página] Osteogenesis Imperfecta (OI) is a dominant negative disorder of ... for the alpha1 and alpha2 chains of type I collagen, are the causative mutations. ... http://www.ncbi.nlm.nih.gov/pubmed/11001814   www.ncbi.nlm.nih.gov - summary Search Results - Genetics Home Reference [Traducir esta página] ... form of osteogenesis imperfecta classified as type VIII. These mutations... Found: ...type I occurs as part of osteogenesis imperfecta, which is caused by ... http://ghr.nlm.nih.gov/ghr/search?query=Osteogenesis+imperfecta   ghr.nlm.nih.gov - summary Alpha-2 collagen type I (COL1A2) mRNA, with a Gly586Val mutation ... [Traducir esta página] Human protein-coding gene COL1A2. Represented by 2860 ... type I (COL1A2) mRNA, with a Gly586Val mutation, causing type III osteogenesis imperfecta (COL1A2) ... http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=489142   www.ncbi.nlm.nih.gov - summary Gene targeting in stem cells from individuals with osteogenesis imperfecta. [Traducir esta página] Gene targeting in stem cells from individuals with osteogenesis imperfecta. ... Collagen Type I. Kanamycin Kinase. PMID: 14976317 [PubMed - indexed for MEDLINE] ... http://www.ncbi.nlm.nih.gov/pubmed/14976317   www.ncbi.nlm.nih.gov - summary Bisphosphonate therapy for osteogenesis imperfecta. [Traducir esta página] Bisphosphonate therapy for osteogenesis imperfecta. Phillipi CA, Remmington ... BACKGROUND: In osteogenesis imperfecta (OI) a genetic defect in type I collagen ... http://www.ncbi.nlm.nih.gov/pubmed/18843680   www.ncbi.nlm.nih.gov - summary Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with ... [Traducir esta página] ... COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. ... Osteogenesis Imperfecta (OI) is a heterogeneous group of inherited disorders ... http://www.ncbi.nlm.nih.gov/pubmed/16786509   www.ncbi.nlm.nih.gov - summary COL1A2 - References - Genetics Home Reference [Traducir esta página] ... imperfecta mutations in the helical domain of type I collagen: ... produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII. ... http://ghr.nlm.nih.gov/gene=col1a2/show/References   ghr.nlm.nih.gov - summary Skeletal dysplasias: 38 prenatal cases. [Traducir esta página] ... type I (n = 1), osteogenesis imperfecta type III (n = 1), thanatophoric ... was made in 25 cases (65.8%) including osteogenesis imperfecta type II (n = 9) ... http://www.ncbi.nlm.nih.gov/pubmed/18990981?ordinalpos=30&it...   www.ncbi.nlm.nih.gov - summary Tracking COL1A1 RNA in osteogenesis imperfecta. splice-defective ... [Traducir esta página] ... intra-nuclear fate of COL1A1 RNA in osteogenesis imperfecta (OI) Type I. Patient ... Osteogenesis Imperfecta/genetics* RNA Precursors/genetics ... http://www.ncbi.nlm.nih.gov/pubmed/10931857   www.ncbi.nlm.nih.gov - summary mostrar más 1  2