Entrez PubMed Click here to read Identification of a novel bardetbiedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?holding=npg&cmd=Retrieve&db=PubMed
Bardet-Biedl Syndrome From Linkspider UK Health Directory Directory Topic bardetbiedl syndrome assoicated to Health. National Library of Medicine - A summary of bardet-biedl syndrome and a list of major features. http://linkspider.co.uk/Health/ConditionsandDiseases/NeurologicalDisorders/Brain
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Ask NOAH About: The Eye The Aniridia Network Anopthalmia Movements Online Aphakia - Texas School for the Blind and Visually Impaired bardet-biedl syndrome bardet-biedl syndrome http://www.noah-health.org/english/illness/eye/eye.html
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»»Reviews For Bardet-Biedl Syndrome«« bardetbiedl syndrome Reviews. Related Subjects Brain_Diseases More Pages bardet-biedl syndrome Page 1 2 3. Search site for a Book Review. http://www.booksunderreview.com/Health/Conditions_and_Diseases/Neurological_Diso
Extractions: More Pages: Bardet-Biedl Syndrome Page 1 Book reviews for "Bardet-Biedl Syndrome" sorted by average review score: Sindrome de Fatiga Cronica Published in Paperback by Editorial Libra (30 July, 1994) Authors: Jorge, Dr Escalante, Dr Jorge Octavio Escalante, and Doctor Jorge Octavio Escalante Amazon base price: Average review score: A VECES SOSPECHO QUE, COMO EN EL CASO DE LOS VIRUS DE LAS COMPUTARODORAS, ALGUIEN O VARIOS SERES MONSTRUOSOS JUEGAN CON NUESTRA VIDA DESDE LOS LABORATORIOS MEDICOS...
MGI 2.98 - Marker Detail 2.98. Gene Detail, Symbol Name ID, Bbs7 bardetbiedl syndrome 7 MGI1918742, Nomenclature History. Synonyms, 8430406N16Rik. Map position, http://www.informatics.jax.org/searches/accession_report.cgi?id=MGI:1918742
Extractions: Bardet-Biedl Syndrome is a rare genetic disorder characterized by progressive retinal degeneration similar to retinitis pigmentosa. Patients can also suffer from obesity, polydactyly, hypogenitalism, mental retardation and renal malformations. In humans, the gene BBS7 has been implicated in this disorder. The BBS7 gene is an orthologue of C. elegans gene Y75B8A.12. osm-12 was isolated in screens for worms defective osmotic avoidance while retaining an intact amphid organ, as determined by dye filling. We have adapted the osmotic avoidance assay developed by Jim Thomas in order to further characterize the Osm-12 phenotype. Weve cloned osm-12 . It corresponds to the BBS7 orthologue Y75B8A.12. Notably, osm-12 has an RFX-box in the proximal promoter, and this element has been shown to drive expression of target genes in sensory neurons. To verify this predicted expression pattern, we are generating antibodies to OSM-12, and are injecting a GFP transcriptional fusion of the osm-12 promoter.
ORPHANET - Maladies Rares - Médicaments Orphelins Translate this page Version pour Impression, MALADIE bardet-biedl, syndrome de, Maladie(s) incluse(s) bardet-biedl type 1, syndrome de bardet-biedl http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=110
Extractions: Le syndrome de Bardet-Biedl est une maladie génétique autosomique récessive qui associe une obésité, une rétinite pigmentaire, une hexadactylie postaxiale, un hypogénitalisme, une atteinte rénale et un retard mental très variable et souvent modéré. Le traitement est uniquement symptomatique. Il existe une grande hétérogénéité génétique puisque 8 gènes responsables de cette affection ont été localisés ; 6 de ces gènes sont identifiés. Le diagnostic prénatal par la biologie moléculaire ou par la biochimie n'est réalisable que si la mutation d'un cas index a été identifiée ; ces tests ne sont cependant pas effectués en pratique courante. *Auteur : Pr D. Bonneau (octobre 2003)*. Texte(s) long(s) http://www.orpha.net/data/patho/FR/fr-BBS.pdf
Bardet-Biedl, Syndrome : Arborescences MeSH Translate this page bardet-biedl, syndrome arborescences MeSH. Menu général CISMeF. Vous pouvez aussi consulter toutes les arborescences des mots http://www.chu-rouen.fr/navimesh/B/navibardetbiedlsyndrome.html
Syndrome Of Bardet-Biedl bardetbiedl s syndrome. Health has no price Obesidad.net is educational Visit us continually. You bardet-biedl S syndrome. Bardet http://www.obesidad.net/english2002/disorder9.shtml
Extractions: Recommend this site to a friend or relative who may find it helpful BARDET-BIEDL'S SYNDROME Bardet-Biedl's syndrome is a hereditary disease that affects many parts of the body. Obesity, the pygmentary retinitis (night blindness and the progressive loss of the peripheral vision), the mental delay, the hypogonadism, the renal damage and the polydactylia (fingers extra in the feet), define the characteristics of Bardet-Biedl's syndrome. INHERITANCE Two forms have been identified: Bardet-Biedl's syndrome 1, which does not have relation with the chromosome 16. Bardet-Biedl's syndrome 2, that has relation with the chromosome 16. Bardet-Biedl's syndrome is transmitted genetically across the families by inheritance autosomic recessive. In this type of inheritance, both parents are called carriers, they have a gene of the syndrome paired with a normal gene. Each of his children have at the time a possibility of 25% (or an opportunity in four) of inheriting both Bardet-Biedl's genes (one of every father) necessary to cause this disease. The carriers are healthy because only they have a copy of the gene. At this moment, it is impossible to determine if someone is a carrier of Bardet-Biedl's syndrome but until the birth of an affected child.
BARDET-BIEDL (LAURENCE-MOON-BARDET-BIEDL) SYNDROME Features Listed For bardetbiedl (LAURENCE-MOON-bardet-biedl) syndrome. McKusick 209900. Abnormal liver (including function); Biliary http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?154
Laurence Moon Bardet Biedl Syndrome Lauurence Moon Bardet Biedl syndrome Resources, international support groups, clinics, genetic counselors and geneticists http://www.kumc.edu/gec/support/laurmoon.html
Bardet Biedl Syndrome (BBS) Links to information and resources for Laurence Moon syndrome/Bardet Biedl syndrome, a genetic disorder of chromosomes 16, 3, and 15. Foundation Fighting Blindness Bardet Biedl. Good information http://rarediseases.about.com/cs/bardetbiedlsynd
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Laurence Moon/Bardet Biedl Syndrome Laurence Moon/ Bardet Biedl syndrome. LMBBS Home page This page is aimed primarily at medical and healthcare professionals involved http://www.lowvision.org/laurence_moon.htm
Extractions: LMBBS Home page This page is aimed primarily at medical and health-care professionals involved in the care of LMBBS patients and also for parents or relatives wishing to know more about the syndrome and the implications for those affected. LMBBS Home page This page is aimed primarily at medical and health-care professionals involved in the care of LMBBS patients and also for parents or relatives wishing to know more about the syndrome and the implications for those affected.