21. Laurence-Moon-Bardet-Biedl Syndrome Network Home Page The purpose of this page is to raise public awareness of the LaurenceMoonbardet-biedl syndrome. It will also serve as a place for parents of LMBBS http://mlmorris.com/lmbbs/

Welcome to the Laurence-Moon-Bardet-Biedl Network Home Page The purpose of this page is to raise public awareness of the Laurence-Moon Bardet-Biedl syndrome. It will also serve as a place for parents of LMBBS children to meet and exchange ideas. View our gift shop! Purchase your LMBBS merchandise here! CLICK HERE Next Page This Blindness and Visual Impairment site owned by Mary Morris Previous 5 Sites Skip Previous Previous ... List Sites This page hosted by

22. Special Child: Disorder Zone Archives - Laurence-Moon-Bardet-Biedl Syndrome LaurenceMoon-bardet-biedl syndrome (LMBBS) is an autosomal recessive Sabrina was diagnosed with bardet-biedl syndrome when she was just 2-years-old. http://www.specialchild.com/archives/dz-035.html

Disorder Zone Archives Laurence-Moon-Bardet-Biedl Syndrome Sabrina Parker Introduction Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is an autosomal recessive genetic disorder characterized by obesity, retinal degeneration, extra digits on the hands and feet, and intellectual impairment. In an autosomal recessive disorder, both parents must be carriers of the defective gene and both must pass on the defect to the child in order for the child to be affected. If both parents carry the defective gene responsible for causing LMBBS, they have a 1 in 4 chance of having a child with the syndrome. In 1993, the gene responsible for LMBBS was located on chromosome 16q21 (type 2). Shortly thereafter, another gene on chromosome 11q13 (type 1) was identified. Since then, two others were found on chromosomes 3p12 (type 3) and 15q22 (type 4). The most common form of LMBBS is type 1 and the most rare form is type 3. It is expected, however, that another gene that causes the syndrome also exists because there are identified cases that have none of these four defects. The occurrence rate varies in different parts of the world. In regions such as Kuwait, the occurrence is 1 in 13,500 due to a high frequency of inter-family marriages. British studies, on the other hand, show the prevalence to be 1 in 160,000. While this syndrome is considered rare, it is suspected that there is a major problem with under-diagnosis. Features and Characteristics Following is a list of characteristics that have been seen in children with LMBBS. Not all children will exhibit all of these features:

23. Mendelian: Bardet-Biedl Syndrome 2 Triallelic inheritance in bardetbiedl syndrome, a Mendelian recessive disorder Linkage mapping in 29 bardet-biedl syndrome families confirms loci in http://obesitygene.pbrc.edu/cgi-bin/ace/tree/ogm2k?name=Bardet-Biedl Syndrome 2&

24. Mendelian: Bardet-Biedl Syndrome 3 Canadian bardetbiedl syndrome family reduces the critical region of BBS3 (3p) and Identification of a bardet-biedl syndrome locus on chromosome 3 and http://obesitygene.pbrc.edu/cgi-bin/ace/tree/ogm2k?name=Bardet-Biedl Syndrome 3&

25. Bardet-Biedl Syndrome - Laurence-Moon-Bardet-Biedl Syndrome - Information Page W An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTY http://www.hon.ch/HONselect/RareDiseases/EN/C10.228.140.617.200.html

InitBulle("navy","#F8F8F8","#000066",1); HONcode sites All Web sites HONselect News ... Images HONselect Search English French German Spanish Portuguese the word the part of word in MeSH term in MeSH term and description Information on "Bardet-Biedl Syndrome": Medical hierarchy and definition Research Articles Web resources Medical Images Medical News Medical Conferences Clinical Trials Hierarchy English French German Spanish Portuguese Bardet-Biedl Syndrome Definition: An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA POLYDACTYLY OBESITY MENTAL RETARDATION ; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME . (From J Med Genet 1997 Feb;34(2):92-8) Synonym(s): Laurence-Moon-Bardet-Biedl Syndrome / Bardet Biedl Syndrome / Laurence Moon Bardet Biedl Syndrome / Syndrome, Bardet-Biedl / See also: Mental Retardation See Related: Obesity Polydactyly Laurence-Moon Syndrome Retinitis Pigmentosa ... New search Web resources for "Bardet-Biedl Syndrome" English French German Spanish = Site with HON description - = Site with a robot description info: enter the site: (click below) domain of the site: http://www.blindness.org/visiondisorders/causes.asp?type=27

26. HONselect - Bardet-Biedl Syndrome Translate this page Laurence Moon Bardet Biedl Syndrome - Syndrome, Bardet-Biedl Français,Syndrome de Bardet-Biedl, - Syndrome de Laurence Moon Bardet Biedl http://www.hon.ch/HONselect/RareDiseases/C10.228.140.617.200.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: Bardet-Biedl Syndrome - Laurence-Moon-Bardet-Biedl Syndrome - Bardet Biedl Syndrome - Laurence Moon Bardet Biedl Syndrome - Syndrome, Bardet-Biedl - Syndrome, Laurence-Moon-Bardet-Biedl Français: Syndrome de Bardet-Biedl - Syndrome de Laurence Moon Bardet Biedl Deutsch: Bardet-Biedl-Syndrom - Laurence-Moon-Bardet-Biedl-Syndrom Español: Síndrome de Bardet-Biedl - Síndrome de Laurence-Moon-Bardet-Biedl Português: Síndrome de Bardet-Biedl - Síndrome de Laurence-Moon-Bardet-Biedl HONselect ressources Definition: Yes Articles: Yes Images: No News: No Conferences: No Clinical trials: Yes Web sites: English Yes Français Yes Deutsch No Español No Português No Home About us Site map Search ... Contact http://www.hon.ch/HONselect/RareDiseases/C10.228.140.617.200.html Last modified: Wed May 18 2005

27. Genome Research Sheds Light On Bardet-Biedl Syndrome ? By comparing the genomes of an alga, a weed and humans, a team of researchershas identified a new gene behind bardetbiedl syndrome (BBS), http://www.news-medical.net/?id=1765

28. Retinitis Pigmentosa bardetbiedl syndrome Foundation Fighting Blindness, Canada; Clinical Trialsbardet-biedl syndrome Clinical Trials.gov. Usher Syndrome http://www.noah-health.org/en/eye/disorders/retinitispigment.html

Skip navigation About NOAH Help English Spanish Both Advanced NOAH Eye Change text size: Retinitis Pigmentosa Updated: June 3, 2005 The Eye Clinic and Retinitis Pigmentosa British Retinitis Pigmentosa Society Frequently Asked Questions about Retinitis Pigmentosa Prevent Blindness America Genetics and Retinitis Pigmentosa British Retinitis Pigmentosa Society A Guide to Retinitis Pigmentosa British Retinitis Pigmentosa Society Retinitis Pigmentosa Retinitis Pigmentosa University of Virginia Health System (also in Spanish Retinitis Pigmentosa Merck Manual, 2nd Home Edition Retinitis Pigmentosa American Optometric Association Retinitis Pigmentosa: Risk Factors Foundation Fighting Blindness Understanding Retinitis Pigmentosa Royal College of Ophthalmologists What is Retinitis Pigmentosa? Foundation Fighting Blindness Bardet-Biedl Syndrome Bardet-Biedl Syndrome Foundation Fighting Blindness Bardet-Biedl Syndrome Foundation Fighting Blindness, Canada Clinical Trials: Bardet-Biedl Syndrome Clinical Trials.gov Usher Syndrome Usher Syndrome National Institute on Deafness and Other Communication Disorders Usher Sydrome National Eye Institute Usher Syndrome Deafblind Scotland What is Usher Syndrome?

29. Bardet-Biedl Syndrome Impairs Sense Of Smell In 2003, researchers in an international team discovered that proteins involvedin the complex disorder known as bardetbiedl syndrome were found in and http://rarediseases.about.com/b/a/117863.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Bardet-Biedl syndrome impairs sense of smell Rare/Orphan Diseases Blog Main From Mary Kugler Your Guide to Rare / Orphan Diseases FREE Newsletter. Sign Up Now! October 09, 2004 Bardet-Biedl syndrome impairs sense of smell In 2003, researchers in an international team discovered that proteins involved in the complex disorder known as Bardet-Biedl syndrome were found in and near cilia. The nose and olfactory system have many cilia, so recently the researchers decided to look at the ability of individuals with Bardet-Biedl to detect odors. When administered a simple, standard smell test, 40% of individuals with the syndrome couldn't smell anything, and another 10% had a diminished sense of smell. The research was published in the August 22, 2004, edition of Nature Genetics Email to a Friend Display Latest Headlines Read Archives powered by Movable Type Advertisement Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Muscular Dystrophy Autoimmune Kidney Disease Minamata Disease Charcot-Marie-Tooth Disease ... Meckel-Gruber Syndrome adunitCM(150,100,'x55')

30. Bardet-Biedl Syndrome / McKusick-Kaufman Syndrome - HUM-MOLGEN We are interested in locating families with either bardetbiedl syndrome or Our daughter is 10 years old and has bardet-biedl syndrome. and current http://hum-molgen.org/bb/Forum2/HTML/000048.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) Bardet-Biedl syndrome / McKusick-Kaufman Syndrome profile register preferences faq ... next oldest topic Author Topic: Bardet-Biedl syndrome / McKusick-Kaufman Syndrome Administrator Administrator posted 10-10-2000 02:50 PM We are interested in locating families with either Bardet-Biedl syndrome or McKusick-Kaufman Syndrome for continuing linkage investigations and mutational studies. Richard Alan Lewis M.D., M.S. Professor, Departments of Ophthalmology, Medicine, Pediatrics, and Molecular and Human Genetics Cullen Eye Institute NC-206 Baylor College of Medicine One Baylor Plaza Houston, Texas 77030 Voice: 713-798-3030; Fax: 713-798-3042 E-mail: rlewis@bcm.tmc.edu IP: 160.45.191.21 Christine's mom Member posted 01-25-2004 06:46 PM Our daughter is 10 years old and has bardet-biedl syndrome. and current information that you may offer us would be greatly welcomed. I have been reading bout this syndrome, I am at a lost in all of this. We live in an area where it seems the the only thing the doctors seem to only know about the syndrome is what we tell them or what they look up.It is very furstrating at times because it's like they think we don't know what we are talking about or if what we say she has in totally wrong. until we show them her medicial records. With her being at this age now where there are more questions asked by her. And the possiblity of health changes we are looking to new help and support.

31. Identification Of Genes Responsible For Bardet-Biedl Syndrome - MRDDRC Projects Identification of genes responsible for bardetbiedl syndrome. Bardet-Biedlsyndrome is a recessive heterogeneous disorder primarily characterized by http://mrrc.pedi.bcm.tmc.edu/projects/bbsgenes.html

Identification of genes responsible for Bardet-Biedl syndrome Bardet-Biedl syndrome is a recessive heterogeneous disorder primarily characterized by obesity, retinal dystrophy, polydactyly, hypogenitalism and developmental delay. The relative clinical homogeneity of the disorder led to an initial expectation of genetic homogeneity. However, since the mapping of the first BBS locus in 1994 ( ), five more loci have been reported in the human genome with evidence for at least one additional locus. The recessive nature of the disorder, the typically small size of pedigrees, the genetic heterogeneity and the inability to clinically distinguish between BBS patients that map to different loci have substantially hindered efforts to positionally clone BBS genes. In this proposal, we aim to use a combination of classical positional cloning tools and functional studies to elucidate the underlying molecular mechanism of the disease. We will continue to collect pedigrees and perform genetic studies to reduce the and critical intervals through the identification of historical recombinants. As we have complete physical maps across both regions, as well as substantial genomic sequence information, we will apply computational prediction programs and experimental methods to identify and characterize novel candidate genes. These will then be sequenced in BBS patients to identify mutations. A different but complimentary approach will rely on functional methods to identify genes involved with the BBS phenotype. We recently reported the identification of the first BBS gene

32. Bardet-Biedl Syndrome Information bardetbiedl syndrome (BBS; OMIM 209900) is a genetically heterogeneous autosomalrecessive disorder with features of obesity, mild to moderate mental http://www.medicine.uiowa.edu/path_handbook/Appendix/Outreach/bbs_testing.html

University of Iowa Diagnostic Laboratories (UIDL) Department of Pathology Room 6240, RCP Iowa City, Iowa 52242-1181 Tel Fax BARDET-BIEDL SYNDROME INFORMATION Background and Methodology: Bardet-Biedl syndrome (BBS; OMIM 209900) is a genetically heterogeneous autosomal recessive disorder with features of obesity, mild to moderate mental retardation, pigmentary retinopathy, polydactyly, renal malformations, and hypogonadism. Vision loss can begin in childhood and by age 20 greater than 70% of patients are blind. carverlab@molpc.ophth.uiowa.edu or (319)335-8270. References: 1. Bruford, et al. (1997) Genomics vol 41: 93-99. 2. Mykytyn, et al. (2003) Amer. J. Hum. Genet. vol 72: 429-437. Contact Information: UIDL Client Services 319-384-7212 (local) 1-866-844-2522 (toll-free) Technical Test Information Molecular Pathology Laboratory Division of Medical Microbiology Genetic Counseling Renai Ray, RN carverlab@molpc.ophth.uiowa.edu Research Testing for Bardet-Biedl Syndrome Research Protocol: Research testing is available to patients who are found to have a normal M390R test result. This research test is a sequence based protocol covering all regions known to harbor variations in the known BBS genes. Patient specimens may also be used to identify new BBS genes. These studies are conducted in the laboratories of Val Sheffield, MD, PhD, and Ed Stone, MD, PhD, at The University of Iowa.

33. Bardet-Biedl Syndrome, Type 1 (M390R Mutation) bardetbiedl syndrome, Type 1 (M390R Mutation), Order Code BBS. MolecularPathology/Diagnostics. 6004 BT GH, 384-9568. Order Form http://www.medicine.uiowa.edu/Path_Handbook/handbook/test2122.html

The University of Iowa Department of Pathology LABORATORY SERVICES HANDBOOK Bardet-Biedl Syndrome, Type 1 (M390R Mutation) Order Code: BBS Molecular Pathology/Diagnostics 6004 BT GH Order Form: A-1a Molecular Pathology/Diagnostics Specimen Whole Blood Collection Medium: Lavender top tube (EDTA) Minimum: Adults - 3 mL whole blood in lavender top tube (EDTA) Children - 2 mL whole blood in lavender top tube (EDTA) Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing. Testing requires a dedicated collection tube. Delivery Instructions: Room temperature up to 24 hours. Refrigerate overnight, weekends and holidays. Testing Schedule: Weekly Analytic Time: 14 days Reference Range: Normal Comments: This test will detect the common M390R mutation by direct DNA analysis. DNA is extracted from the patient's blood and amplified using polymerase chain reaction (PCR) with primers specific for either the normal or abnormal allele. An internal amplfication control is used to ensure proper function of the test. CPT codes used; 83890, 83901(x2), 83894, 83912 Methodology: Polymerase Chain Reaction: Amplification Refractory Mutation System (ARMS) CPT Code: See comments Alphabetic main page Updated: 07/18/2005 Note : The information contained in this handbook is for use by personnel of University of Iowa Health Care. No other use is implied or intended.

34. Bardet-Biedl Syndrome Type 4 (BBS4)-null Mice Implicate Bbs4 In Flagella Formati Mkksnull mice have a phenotype resembling bardet-biedl syndrome Hum. Mol.Genet., May 1, 2005; 14(9) 1109 - 1118. Abstract Full Text PDF http://www.pnas.org/cgi/content/abstract/101/23/8664

Published online before print June 1, 2004, 10.1073/pnas.0402354101 June 8, 2004 This Article Full Text Full Text (PDF) Alert me when this article is cited ... Citation Map Services Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles Search for citing articles in: ISI Web of Science (15) PubMed PubMed Citation Articles by Mykytyn, K. Articles by Sheffield, V. C. GENETICS Kirk Mykytyn Robert F. Mullins Michael Andrews Annie P. Chiang Ruth E. Swiderski Baoli Yang Terry Braun Thomas Casavant Edwin M. Stone and Val C. Sheffield Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Department of Pediatrics, Division of Medical Genetics, Departments of Opthalmology, Computer and Electrical Engineering, and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242 Edited by Jeremy Nathans, Johns Hopkins University School of Medicine, Baltimore, MD, and approved April 22, 2004 (received for review April 2, 2004)

35. Bardet-Biedl Syndrome bardetbiedl syndrome. Scientific Information. http://www.ex.ac.uk/diabetesgenes/rarediabetes/types/bardetbiedl.htm

Bardet-Biedl Syndrome Scientific Information

36. Bardet Biedl Syndrome bardetbiedl syndrome is a group of rare disorders inherited as autosomal recessivegenetic traits. Major features of these disorders may include mental http://www.bchealthguide.org/kbase/nord/nord988.htm

var hwPrint=1;var hwDocHWID="nord988";var hwDocTitle="Bardet Biedl Syndrome";var hwRank="1";var hwSectionHWID="nord988-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Bardet Biedl Syndrome Important It is possible that the main title of the report Bardet Biedl Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Biedl-Bardet Syndrome Disorder Subdivisions None General Discussion Bardet-Biedl Syndrome is a group of rare disorders inherited as autosomal recessive genetic traits. Major features of these disorders may include mental retardation, obesity, delayed sexual development or underdeveloped reproductive organs, progressive pigmentary degeneration of the retinas of the eyes, kidney abnormalities in structure or function, and/or abnormal or extra fingers and/or toes. Confusion exists in the medical literature regarding the difference between Bardet-Biedl Syndrome and Laurence-Moon Syndrome. Resources National Association for Visually Handicapped 22 West 21st Street New York, NY 10010

37. Bardet-Biedl Syndrome - Wikipedia, The Free Encyclopedia The bardetbiedl syndrome is aa syndrome characterized mainly by obesity, bardet-biedl syndrome 1 (BBS1) has no linkage to chromosome 16; Bardet-Biedl http://en.wikipedia.org/wiki/Bardet-Biedl_syndrome

Wikimedia needs your help in the final day of its fund drive. See our fundraising page Over US$240,000 has been donated since the drive began on 19 August. Thank you for your generosity! Bardet-Biedl syndrome From Wikipedia, the free encyclopedia. Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet redirect here. See below for an explanation. The Bardet-Biedl syndrome is a a syndrome characterized mainly by obesity , pigmentary retinopathy polydactyly mental retardation hypogonadism , and renal failure in fatal cases. The syndrome is named after Georges Bardet and Arthur Biedl Two forms have been identified: Bardet-Biedl syndrome 1 (BBS1) has no linkage to chromosome 16 Bardet-Biedl syndrome 2 (BBS2) is mapped to markers on chromosome 16. Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet syndrome are no longer considered as valid terms in that patients of Laurence and Moon had paraplegia but no polydactyly and obesity which are the key elements of the Bardet-Biedl the syndrome. Laurence-Moon syndrome is a separate entity. edit Major Features: Eyes: Pigmentary retinopathy.

38. Short Description Of Cell Lines. Pathology: Bardet-Biedl Syndrome *209900 Version 4.200205. Short description of cell lines. Pathology BardetBiedlsyndrome *209900 OMIM record. - By selecting the cell line name, you will receive http://www.biotech.ist.unige.it/cldb/pat50.html

Version Short description of cell lines. Pathology: Bardet-Biedl syndrome OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast GEIMM By Beatrice...

39. UniProt Knowledgebase Keyword: Bardet-Biedl Syndrome Protein which, if defective, causes bardetbiedl syndrome (BBS), BBS2_HUMAN,Q9BXC9, BBS2, bardet-biedl syndrome 2 protein, Homo sapiens (Human), 721 http://www.expasy.org/cgi-bin/get-entries?KW=Bardet-Biedl syndrome

40. UniProtKB/Swiss-Prot Entry Q8NFJ9 [BBS1_HUMAN] Bardet-Biedl Syndrome 1 Protein DISEASE Defects in BBS1 are a cause of bardetbiedl syndrome type 1 (BBS1) bardet-biedl syndrome (BBS) is a genetically heterogeneous disorder http://www.expasy.org/uniprot/Q8NFJ9

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 number Entered in Swiss-Prot in Release 43, March 2004 Sequence was last modified in Release 43, March 2004 Annotations were last modified in Release 47, May 2005 Name and origin of the protein Protein name Bardet-Biedl syndrome 1 protein Synonym BBS2-like protein 2 Gene name Name: Synonyms: From Homo sapiens (Human) TaxID Taxonomy ... References NUCLEOTIDE SEQUENCE (ISOFORM 1), AND VARIANT BBS1 ARG-390. DOI= ; PubMed=12118255 [ NCBI ExPASy EBI Israel ... Mykytyn K.

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