41. Bardet-Biedl Syndrome / McKusick-Kaufman Syndrome - HUM-MOLGEN We are interested in locating families with either bardetbiedl syndrome or McKusick-Kaufman Syndrome for continuing linkage investigations and mutational http://www.hum-molgen.de/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.

42. HHMI News: First Bardet-Biedl Syndrome Gene Identified First bardetbiedl syndrome Gene Identified. It will be interesting to see if this gene is involved in more common disorders, such http://www.hhmi.org/news/sheffield3.html

RESEARCH NEWS RESEARCH NEWS GRANT ANNOUNCEMENTS SCIENCE EDUCATION NEWS INSTITUTE NEWS ... HHMI HOME ALSO OF INTEREST Photoreceptor Gene Mutation Discovered Inherited Deafness Studies May Affect Genetic Counseling Glaucoma and Birth Defects Download this story in Acrobat PDF format. (requires Acrobat Reader First Bardet-Biedl Syndrome Gene Identified It will be interesting to see if this gene is involved in more common disorders, such as diabetes, said HHMI investigator Val C. Sheffield. Researchers have pinpointed a gene mutation that causes Bardet-Biedl syndrome (BBS), a rare genetic disorder that can lead to mental retardation. "BBS is a relatively rare disorder, but it has an interesting constellation of features, including obesity, mental retardation, polydactyly [additional digits], genital abnormalities and retinitis pigmentosa, which can lead to blindness," said Val C. Sheffield of the Howard Hughes Medical Institute at the University of Iowa. "One reason we are studying BBS is that it might give insight into obesity and other common disorders." The discovery by Anne M. Slavotinek and Leslie G. Biesecker at the National Human Genome Research Institutes, Sheffield and colleagues at the University of Iowa and a number of other institutions is reported in the September 2000 issue of the journal

43. Retina Association Of New Zealand: Diseases Section - Bardet-Beidl Syndrome INFORMATION ABOUT bardetbiedl syndrome. bardet-biedl syndrome is a complex disorder that affects many parts of the body including the retina. http://www.retina.org.nz/diseases/bardet.htm

INFORMATION ABOUT BARDET-BIEDL SYNDROME Information courtesy of "The Foundation for Fighting Blindness" Bardet-Biedl syndrome is a complex disorder that affects many parts of the body including the retina. Individuals with this syndrome have a retinal degeneration similar to retinitis pigmentosa (RP). Clinical description The diagnosis of Bardet-Biedl syndrome is usually confirmed in childhood when visual problems due to RP are discovered. The first symptom of RP is night blindness. Night blindness makes it difficult to see in low light levels. RP then causes progressive loss of peripheral (side) vision. Peripheral vision loss is often referred to as tunnel vision. Individuals with Bardet-Biedl also experience central vision loss during childhood or adolescence. RP symptoms progress rapidly and usually lead to severe visual impairment by early adulthood. In addition to RP, polydactyly (extra fingers and/or toes) and obesity are defining characteristics of Bardet-Biedl syndrome. A diagnosis of Bardet-Biedl syndrome is usually first suspected when a child is born with polydactyly.

44. Short Description Of Cell Lines. Pathology: Bardet-Biedl Syndrome *209900 Version 4.200205, Short description of cell lines. Pathology bardetbiedl syndrome *209900 OMIM record. - By selecting the cell line 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...

45. Lukol Directory - Health Conditions And Diseases Neurological Disorders Brain Di UMDS LMBBS Information for healthcare professionals involved in the care of Laurence-Moon-bardet-biedl syndrome patients and for parents or relatives seeking http://www.lukol.com/Top/Health/Conditions_and_Diseases/Neurological_Disorders/B

Lukol Directory - Health Conditions and Diseases Neurological Disorders ... UMDS: LMBBS Information for health-care professionals involved in the care of Laurence-Moon-Bardet-Biedl Syndrome patients and for parents or relatives seeking education on the syndrome. http://www.isgrd.umds.ac.uk/laurence/ Laurence-Moon-Bardet-Biedl Syndrome Network Raises public awareness of the Laurence-Moon Bardet-Biedl syndrome and serves as a place for parents of LMBBS children to meet and exchange ideas. http://www.geocities.com/HotSprings/Spa/1761/ NORD: Bardet Biedl Syndrome Offers a general discussion along with further resources. http://www.rarediseases.org/search/rdbdetail_ab... The CaF Directory Information about Laurence-moon-bardet-biedl syndrome, its symptoms and inheritance patterns. http://www.cafamily.org.uk/Direct/b10.html National Library of Medicine A summary of Bardet-Biedl syndrome and a list of major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes... Readers Digest Health Bardet-Biedl syndrome: General information and resources. http://www.readersdigesthealth.com/kbase/nord/n...

46. PharmGKB: Bardet-Biedl Syndrome bardetbiedl syndrome. Alternate Names Bardet Biedl Syndrome; Laurence Moon Bardet Biedl Syndrome; Laurence-Moon-bardet-biedl syndrome http://www.pharmgkb.org/do/serve?objId=PA447082&objCls=Disease

47. OMIM - BARDET-BIEDL SYNDROME; BBS http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209900

48. Alexa Web Search - Subjects > Health > ... > Neurological Disorders > Brain Dise bardetbiedl syndrome Subjects Health Neurological Disorders Brain Diseases bardet-biedl syndrome. Bestselling Products in bardet-biedl syndrome. http://www.alexa.com/browse/general?catid=594559&mode=general

49. Laurence Moon Bardet-Biedl Syndrome Network Laurence Moon bardetbiedl syndrome Network. 124 Lincoln Ave Purchase, NY 10577 Conditions Retinitis Pigmentosa; Laurence Moon Bardet Biedl syndrome. http://www.geneticalliance.org/diseaseinfo/displayorganization.html?orgname=Laur

50. Arquivos Brasileiros De Oftalmologia - http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492003000500024&l

51. Scripta Academica Lundensis Dissertations From Home Search. LaurenceMoon-bardet-biedl syndrome. Riise R, Tornqvist K, Lofterød B, Heiberg A, Knudtzon J. Growth in the Laurence-Moon-bardet-biedl syndrome. http://theses.lub.lu.se/postgrad/search.tkl?field_query1=pubid&query1=med_81&rec

52. Conditions And Diseases - Bardet-Biedl Syndrome Top Links bardetbiedl syndrome Web Site Links. National Library of Medicine - A summary of bardet-biedl syndrome and a list of major features. http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Neurological

Sub Categories Related Healthcare Subjects Disabilities Environmental Health Fitness Health Insurance ... Men's Health Bardet-Biedl Syndrome Web Site Links National Library of Medicine A summary of Bardet-Biedl syndrome and a list of major features. Readers Digest Health Bardet-Biedl syndrome: General information and resources. NORD - Bardet Biedl Syndrome Offers a general discussion along with further resources. The CaF Directory Information about Laurence-moon-bardet-biedl syndrome, its symptoms and inheritance patterns. Laurence-Moon-Bardet-Biedl Syndrome Network Raises public awareness of the Laurence-Moon Bardet-Biedl syndrome and serves as a place for parents of LMBBS children to meet and exchange ideas. UMDS: LMBBS Information for health-care professionals involved in the care of Laurence-Moon-Bardet-Biedl Syndrome patients and for parents or relatives seeking education on the syndrome. Other Useful Health Web Links National Institutes of Health (NIH) US Government department in charge of medical research. AHRQ: Clinical Information Clinical information on evidence-based practice, clinical guidelines, medical effectiveness, pharmaceutical therapy, new technology, screening and preventive services, outcomes research, and the National Guideline Clearinghouse.

53. Retina International's Scientific Newsletter - Bardet Biedl Syndrome Loci Disease Database Bardet Biedl Syndrome. Link to PubMed Goto Top; Katsanis,N., Lupski,JR, and Beales,PL Exploring the molecular basis of bardetbiedl syndrome. http://www.retina-international.org/sci-news/bardet.htm

Retina International's Scientific Newsletter Disease Database Bardet Biedl Syndrome Recent update from: 17.02.04 Disease Genelocus MIM Gene Gene MIM MoI Assignment Linked Marker [cM] Remarks References BBS Polygenic ar Turns out to be a polygenic disease Triallelic Inheritance by mutations in BBS2, BBS4, BBS6 gene has been shown Synergistic effect of BBS2L1 and BBSL2 type 1 ar PYGM- D11S913 type 2 ar D16S2937-[2.69 cM-D16S408-441f2-5a3-291f1-D16S2938-D16S673-55019-405f3-152e5D16S3057]-152e5-700h13 type 3 ar type 4 ar PDP Bedouin Italian type 5 ar pter-[~39 D2S442-[5]- D2S1399-[5]- D2S2241-[4]- D2S142- D2S418-[2.8]- D2S1353- D2S156-[13 [5]- D2S124- D2S330-[4]- D2S1776-[3]- D2S335-[1]- D2S1238]-[5]- D2S2314- D2S1391]-qter Inbred Newfoundland family of European ancestry PDP type 6 MKKS ar D20S115- 2,5 cM- [D20S851- MKKS- D20S189 20 cM]- 0,5 cM- D20S186 RP Polydactyly Obesity Learning disability Diabetes melitus Renal anomalies type 7 ar MoI = Mode of Inheritance: a: autosomal, ad: autosomal dominant, ar: autosomal recessive, xl: x-linked, mt: mitochondrial References Badano,J.L., Ansley,S.J., Leitch,C.C., Lewis,R.A., Lupski,J.R., and Katsanis,N. Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2. 2003; Am.J.Hum.Genet. 72: 650-658.

54. Retina International's Scientific Newsletter - BBS2 Gene Mutations Retina International s Scientific Newsletter. Mutation Database Mutations of the bardetbiedl syndrome Type 2 Gene (BBS2). Recent update from 12.03.2003 http://www.retina-international.org/sci-news/bbs2mut.htm

Retina International's Scientific Newsletter Mutation Database Mutations of the Bardet-Biedl Syndrome Type 2 Gene (BBS2) Recent update from: 12.03.2003 Phenotype Mutation Basechange Nucleotide Exon Restriction Site Classification Mutation Database OMIM Reference Sequence The mutation data for this gene are currently not adjusted to a standardised sequence and given as reported by the authors cited. IVS4+1G-C Compound: single Triallelic inheritance HBD for BBS3 goto HGMD IVS1-1G-C Compound: single goto HGMD IVS1+1G-C Compound: goto HGMD Gln 59 ter CAG-TAG Compound: single Triallelic inheritance goto HGMD Asn 70 Ser AAC-AGC Compound: single Triallelic inheritance homozygous Y37C (BBS6) goto HGMD Asp 104 Ala GAT-GCT Compound: Triallelic inheritance HBD in BBS1 goto HGMD Tyr 24 ter Compound: single Homozygous Triallelic inheritance Val 158 fs X200 Compound: single Triallelic inheritance HBD for BBS1 Leu 168 fsX170 Compound: Triallelic inheritance Asp 170 fs X171 Compound: Homozygous Triallelic inheritance HBD for BBS1 Cys 210 fs X246 Compound: Homozygous Arg 216 ter CGA-TGA Compound: Triallelic inheritance goto HGMD Arg 315 Trp CGG-TGG Compound: Homozygous Triallelic inheritance HBD for BBS4 goto HGMD Arg 315 Gln CGG-CAG Compound: R315Q/IVS1+1G-C goto HGMD Arg 643 Pro Compound: Val 75 Gly GTC-GGC Homozygous Bedouin Milder obesity goto HGMD Arg 272 ter CGA-TGA Homozygous Arg 275 ter CGA-TGA Compound: Homozygous Triallelic: HBD for BBS1 goto HGMD GAAAG-G_AAG Compound: Homozygous goto HGMD TACGC-TAACGC

55. The Major Gene For Bardet-Biedl Syndrome Is BBS1 127127, 1381-6810/2003/2402-127$16.00 © Swets Zeitlinger. The major gene for bardet-biedl syndrome is BBS1. Robert K. Koenekoop 1. http://www.szp.swets.nl/szp/journals/og242127.htm

Ophthalmic Genetics 2003, Vol.24, No.2, pp. 127-127 The major gene for Bardet-Biedl syndrome is BBS1 Robert K. Koenekoop McGill University, Montreal Children's Hospital, Department of Ophthalmology, Montreal, Canada

56. Bardet-Biedl Syndrome: A Review Of Chinese Literature And A Report Of Two Cases bardetbiedl syndrome a review of Chinese literature and a report of two cases. Wei Lian-Jun 1 , Pang Xueying 1 , Duan Cunyou 1 and Pang Xuangying 1. http://www.szp.swets.nl/szp/journals/og192107.htm

Ophthalmic Genetics 1998, Vol.19, No.2, pp. 107-109 © Æolus Press Letters to the editor Bardet-Biedl syndrome: a review of Chinese literature and a report of two cases Wei Lian-Jun , Pang Xueying , Duan Cunyou and Pang Xuangying The Dang Shan People's Hospital, Twon, Dang Shan, China

57. Penn State Faculty Research Expertise Database (FRED) Faculty Research Expertise Database. bardetbiedl syndrome. Related Terms, Laurence-Moon-bardet-biedl syndrome, Bardet Biedl Syndrome. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D020788

58. Clinical Study: 04-HG-0123, Bardet-Biedl Syndrome: Phenotype And Metabolic Chara Title bardetbiedl syndrome Phenotype and Metabolic Characteristics Number 04-HG-0123 Summary This study will evaluate patients with a rare inherited http://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_04-HG-0123.html

59. Nature Publishing Group with this Brief Communications. Please click here to view. Mutations in MKKS cause bardetbiedl syndrome Anne M. Slavotinek 1 , Edwin http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v26/n1/full/ng0900_1

60. Correction: Mutations In MKKS Cause Bardet-Biedl Syndrome no. 2 p 193 Correction Mutations in MKKS cause bardetbiedl syndrome AM.Slavotinek et al. Nature Genet. 26, 15–16 (2001). Two http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v28/n2/full/ng0601_1

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