Extractions: @import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Article Nature Genetics doi:10.1038/ng1095-137 Jung Ahn , Steffi Lindow , William A. Horton , Brendan Lee , Michael J. Wagner , Bernhard Horsthemke Department of Biology and Institute for Molecular Biology, University of Houston, 4800 Calhoun, Houston, Texas 77204-5513, USA Shriners Hospital for Crippled Children, Portland, Oregon, 97201 USA Correpsondence should be addressed to D.E.W. or B.H. Hereditary multiple exostoses is an autosomal dominant disorder that is characterized by short stature and multiple, benign bone tumours. In a majority of families, the genetic defect ( gene may have tumour suppressor function. REFERENCES Solomon, L. Hereditary multiple exostosis.
150230 LANGER-GIEDION SYNDROME; LGS The langergiedion syndrome, also known as trichorhinophalangeal In a patientwith langer-giedion syndrome and interstitial 8q deletion, Ramos et al. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:150230] -e
190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 This is further support for the notion that the langergiedion syndrome is the In contrast to TRPS I patients, most TRPS II (langer-giedion syndrome) http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:190350] -e
Trichorhinophalangeal Syndrome, Type II Trichorhinophalangeal Syndrome, Type II (langergiedion syndrome) TrichorhinophalangealSyndrome, Type II (langer-giedion syndrome) http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=834
Plastic And Reconstructive Surgery - UserLogin langergiedion syndrome Associated with Submucous Cleft Palate Langer-Giedionsyndrome (MIM 150230) is a rare contiguous gene syndrome that was first http://www.plasreconsurg.com/pt/re/prs/fulltext.00006534-199904050-00015.htm
Anais Brasileiros De Dermatologia - langergiedion syndrome. Birth Defects. 1974; 10147-64. 4. Niikawa N, Kamei T.The Sugio-Kajii syndrome, proposed tricho-rhino-phalangeal syndrome Type III http://www.scielo.br/scielo.php?pid=S0365-05962005000100012&script=sci_arttext&t
Search By Disease LandouzyDejerine muscular dystrophy. 28, Langer Giedion, LGS. 29, Langer-Giedionsyndrome (LGS). 30, langer-giedion syndrome chromosome region (LGCR) http://www.eddnal.com/directory/disease.php?letter=L&page=2
The Original Ring Of Special Needs Children langergiedion syndrome Association Join Date January 02, 2003 {;}This siteprovides information on langer-giedion syndrome. http://www.ringsurf.com/netring?ring=spneed;id=146;action=next5
Topic And Category Listing LandauKleffner Syndrome. Landau-Kleffner Syndrome. langer-giedion syndrome.langer-giedion syndrome. Language Development Disorders http://search.dartmouth-hitchcock.org/dhmc/servlet/submit?Pg=Topic&Tp=L&visit=1
ABC's Of MHE - Genetics - A Simplified Explanation the langergiedion syndrome (LGS) and the Proximal 11p deletion syndrome (P11pDS) localization of the genes involved in the langer-giedion syndrome. http://www.mhecoalition.com/Genetics_Simplified_No18.html
Extractions: Hereditary Exostoses (MHE), also often referred to as Hereditary Multiple Exostoses (HME), is a bone disorder that affects mainly the long bones. Recently the term Multiple Osteochondroma (MO) was suggested by the World Health Organization (WHO) as the preferred term to refer to this disorder and throughout this article both abbreviations MO/MHE will be used. MO/MHE is characterized by the presence of bony protuberances, which are described as osteochondromas or exostoses. They are located mainly near the joints and are often accompanied by skeletal deformities. MO/MHE was first described in the year 1786, while the name multiple exostoses was first proposed in 1876. In the literature one can find many other names describing this disorder; such as diaphyseal aclasis, chondral osteoma, osteochondromata, multiple cartilaginous exostoses, (multiple) exostosis, deforming chondreodysplasia, osteogenic disease, etc. Single osteochondromas or exostoses are very common in the general human population (1 to 2%) but the incidence of multiple osteochondroma is estimated to be 1 in 50,000. However, isolated communities have been described where a much larger fraction of the population is affected. MO/MHE is not a unique human disease, as osteochondromas have been found in many species including cats, dogs, sheep, horses, lizards, lions, etc. A large osteochondroma was even found on the bones of a dinosaur.
Disability Links At Independent Living USA langergiedion syndrome (4). Latex Allergies (12). Learning Disabilities.Leprosy (10). Leukemia. Leukodystrophy (4). Liver Diseases. Long QT Syndrome (3) http://www.ilusa.com/links/disabili.htm
Rarelink.net - Diagnoselisten Langer-Giedion Syndrome Du er her Hjem Diagnoselisten langergiedion syndrome (Trichorhinophalangeal langer-giedion syndrome (Trichorhinophalangeal Syndrome, Type II) http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=153&synonymId=314
Rarelink.net - Diagnoselisten Langer-Giedion Syndrome Du er her Hjem Diagnoselisten langergiedion syndrome Langer-Giedionsyndrom; Trichorhinophalangealt syndrom, type II, langer-giedion syndrome. http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=153
Spectral Genomics Kallman Syndrome; langergiedion syndrome EXT1 and TRPSI; Miller-DiekerSyndrome. Potocki-Shaffer Syndrome including Multiple Exostoses2 http://www.spectralgenomics.com/whats_new.htm
Health Directory For Organizations langergiedion syndrome Association international support organization for peopleand families living with langer-giedion syndrome and related disorders. http://www.health6.com/index.php?t=sub_pages&cat=121
Elsevier.com - Smith S Recognizable Patterns Of Human Malformation Thalassemia/Mental Retardation (ATRX) Syndrome FG Syndrome Stickler SyndromeCatel-Manzke Syndrome langer-giedion syndrome Tricho-Rhino-Phalangeal Syndrome http://www.elsevier.com/wps/product/cws_home/705571
Extractions: Home Site map Regional Sites Advanced Product Search ... Smith's Recognizable Patterns of Human Malformation Book information Product description Audience Author information and services Ordering information Bibliographic and ordering information Book related information Submit your book proposal Other books in same subject area About Elsevier Select your view SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION The completely revised and updated New Edition of this definitive text?now in full color! Long known as the source to consult for guidance on diagnosis, prognosis, plan management, and genetic counseling, this easy-to-use reference focuses on the patterns of human defects caused by inborn errors in morphogenesis as opposed to defects caused by mechanical problems. It provides a wealth of information on normal and abnormal morphogenesis * minor anomalies and their relevance * clinical approaches to specific diagnoses * and normal standards of measurement for the entire spectrum of disorders. Each chapter includes a description of the specific abnormality?including occasional associated abnormalities?natural history, etiology, and references. On opposing pages are several descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality.
MUMS List Of Disorders - K - L Lactose Intolerance (20); Landau Syndrome (26)*; LandauKleffner Syndrome (51) **;langer-giedion syndrome (Trichorhinophalangeal Type II) (6)** http://www.netnet.net/mums/mum_k-l.htm
Extractions: indicates there is a support group which covers that diagnosis. KBG Syndrome (short stature, MR, Skeletal, Macrodonita) (1) Kabuki Make-up Syndrome (37) ** www.kabukisyndrome.com European Kabuki Syndrome Network Kallmann Syndrome (DeMorisier Dysplasia Olfactorgenitalis) (5) * Kallmann Syndrome not DeMorisier Dysplasia Olfactorgenitalis (1)* Kanner Syndrome (1) Kartagener Syndrome (Immotile Cilia) (15) Kasabach-Merritt (2) Kawasaki Disease (14)** Kearns-Sayre Syndrome (KSS) (Mitochondrial Disorder) (7)* Keratoconus (cornea disorder) (1) Keinbock Disease (Carpal Semilunar) (2) Kenny Syndrome (short stature, myopia, hypocalcemia) (1) Kenny-Caffey Syndrome (Kenny Syndrome) (1) Keppra Reaction (psycotic) (1) Keratoconus (cornea disorder) (2) Kernicterus (high bilirubin damages basal ganglia) (3) Ketoaciduria (2) Ketogenic Diet not working (12)* Ketogenic Diet working (107) * Ketoids (red, raised scar growth) (3) Ketone, High Levels, Undiagnosed (4)
Extractions: À propos Références: syndromes References for different syndromes Special Child's library of disorders for Parents and Care-givers of Children with Special Need s http://www.specialchild.com/ Exceptional Parent Magazine. http://www.eparent.com/ Parenting Special Needs http://specialchildren.about.com/health/specialchildren/mbody.htm Welcome to the Roeher Institute http://www.roeher.ca/roeher/ Argininémie (argininamia) Yahoo groups: argininémia National urea cycle disorders foundation Références intéressantes Galactosémie (galactosemia) Galactosemia Ressources and information Parents of galactosemics, Inc.
