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         Bardet-biedl Syndrome:     more detail
  1. Biochemists focus on BBS.(Michel Leroux and Oliver Blacque's research on Bardet-Biedl Syndrome ): An article from: Canadian Chemical News
  2. Bardet-Biedl Syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Avis Gibons, 2005
  3. Maladie Du Segment Postérieur: Dégénérescence Maculaire Liée à L'âge, Uvéite, Syndrome de Bardet-Biedl, Rétinite Pigmentaire (French Edition)
  4. The (Laurence Moon) Bardet Biedl syndrome (Van Gorcum's medical collection, no. 207) by W Stiggelbout, 1969

41. Bardet-Biedl Syndrome (BBS)
bardetbiedl syndrome (BBS), What causes bardet-biedl syndrome? Bardet-Biedlsyndrome is characterized as recessively inherited.
Health Center Dictionary Encyclopedia Innovation Spotlight ... Eye Care Library Bardet-Biedl Syndrome (BBS) What causes Bardet-Biedl syndrome?
How is Bardet-Biedl treated?

Bardet-Biedl syndrome is a rare genetic disorder that affects the brain and can cause multiple physical problems including a deterioration of the intellect and neurological functions. The syndrome sometimes affects eyesight with a condition called rod-cone dystrophy, a degeneration of light-sensitive cells in the periphery of the retina. This eye disorder causes night blindness, tunnel vision, decreased visual acuity, and photophobia (extreme sensitivity of the eyes to light). Other symptoms of Bardet-Biedl syndrome may include extra toes and/or fingers, mental retardation, kidney disease, and obesity.
What causes Bardet-Biedl syndrome?
Bardet-Biedl syndrome is characterized as recessively inherited. In other words, neither parent exhibits characteristics of the disorder, but both carry the recessive gene that causes the disorder. Parents who have one affected child run a 25 percent chance in each additional pregnancy of the condition occurring again. There is also a two in three chance that children of subsequent pregnancies, although not affected, will be carriers of the recessive gene. The syndrome is rare because the recessive gene is only carried by approximately 1 in 179 people. Therefore, a person carrying the gene is unlikely to conceive children with another person who also carries the gene.
How is Bardet-Beidl treated?

42. Bardet-Biedl Syndrome Information Page Diseases Database
bardetbiedl syndrome Information Page. bardet-biedl syndrome relatedtopics and Gobardet-biedl syndrome specific sites. GoSend Bardet

43. 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.
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

44. Bardet-Biedl Laurence-Moon Syndroom/History
Based on a Swiss study several decades ago, bardetbiedl syndrome was estimatedto occur in 1 of 160,000 births in European countries. bardet-biedl syndrome.
top NL / ENG
Bardet-Biedl Laurence-Moon Syndroom
Home History Symptoms Treatment Aids Cause ... e-mail
T h e Bardet-Biedl and Laurence-Moon syndromes are two uncommon disorders. Both syndromes are genetic, that is, caused by altered genes, and occur throughout the world, equally in men and in women. Historically these conditions were so similar that for some time they had been considered the same disorder. However, in the past few years, it has become apparent that these are two separate and distinct syndromes Brief history I n 1866 doctors Laurence and Moon in England described four members of the same family who had retinal problems, unsteady gait and spinal cord problems, and developmental delays. In the 1920’s Doctors Bardet (in France) and Biedl (in Germany) independently published articles describing patients with extra fingers and toes at birth, infantile obesity, and retinal disorders. The similarities of the signs in these patients were so striking that it was decided to adopt the suggestion to speak of these as one syndrome: Laurence-Moon/Bardet-Biedl Syndrome.

45. Bardet-Biedl Laurence-Moon Syndroom/Treatment
bardetbiedl syndrome and Laurence-Moon Syndrome are incurable. Proper medical treatmentand emotional guidance help a patient with either syndrome to cope.
top NL / ENG
Bardet-Biedl Laurence-Moon Syndroom
Home History Symptoms Treatment Aids Cause Parent Contact Group View guestbook ... e-mail Bardet-Biedl Syndrome and Laurence-Moon Syndrome are incurable. Proper medical treatment and emotional guidance help a patient with either syndrome to cope. Below we give some suggestions for certain symptoms related to the syndromes. 1.RETINAL DISORDERS AND NIGHT BLINDNESS R etinal dysfunction is incurable at this time. With that in mind it is essential to use the remaining vision by wearing proper corrective lenses. Regular visits to an ophthalmologist who is skilled in retinal disorders and in refraction are imperative. Emotional and especially practical guidance of children and young adults who are losing their vision is not an easy task. Because of their decreasing vision and night blindness, people with Laurence-Moon or Bardet-Biedl Syndromes benefit from orientation and mobility training and the use of a guide cane. This way they can still maneuver safely in low light situations.

46. Blindness Resource Center: Eye Diseases And Conditions
Top of Listing LAURENCEMOON-bardet-biedl syndrome Laurence-Moon-Bardet-BiedlSyndrome (LMBBS) This page is aimed primarily at medical and health-care
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Eye Diseases and Conditions

The Lighthouse Handbook on Vision Impairment and Vision Rehabilitation

by Barbara Silverstone (Editor), Mary Ann Lang (Editor), Bruce P. Rosenthal
Oxford Univ Press; ISBN: 0195094891 This monumental, two-volume work presents for the first time a comprehensive, interdisciplinary guide to the scientific, clinical, social, educational and policy issues related to the full scope of vision impairment and vision rehabilitation.

47. Blindness Resource Center: Eye Diseases And Conditions
Top of Listing LAURENCEMOON-bardet-biedl syndrome. Laurence-Moon-Bardet-BiedlSyndrome (LMBBS) This page is aimed primarily at medical and health-care

48. Bardet-Biedl Syndrome - General Practice Notebook
medical information from General Practice Notebook. bardetbiedl syndrome.characterised by retinal dystrophy, hypogonadism, reduced
Bardet-Biedl syndrome
  • characterised by retinal dystrophy, hypogonadism, reduced IQ, obesity (+/- polydactyly) plus renal abnormalities (calcyceal cysts or diverticula, calyceal blunting or clubbing, fetal lobulation) this syndrome does not have neurological symptoms (spastic paraplegia) - this differentiates it from Laurence-Moon-Biedl syndrome recessive inheritance; genetic locus: 16q13-q21 epidemiology
      incidence 1: 160,000; in Newfoundland the incidence is much higher at 1: 17,500

    Click here for more information...

49. 2581: Homozygosity And Linkage-Disequilibrium Mapping Of Bardet-Biedl Syndrome T
Program Nr 2581 Homozygosity and LinkageDisequilibrium Mapping ofbardet-biedl syndrome Type 1 (BBS1). T. Young 1 , MO Woods 1
Program Nr: 2581 Homozygosity and Linkage-Disequilibrium Mapping of Bardet-Biedl Syndrome Type 1 (BBS1). T. Young , M.O. Woods , P.S. Parfrey , J.S. Green , D. Hefferton , W.S. Davidson 1) Fac Medicine, Memorial Univ Newfoundland, St John's, NF, Canada; 2) Dept Biochem, Memorial Univ Newfoundland, St John's, NF, Canada.

50. William S. Davidson, Selected Recent Publications.
(2001). Triallelic Inheritance in bardetbiedl syndrome, a Mendelian RecessiveDisorder. A fifth locus for bardet-biedl syndrome Maps to chromosome 2q31. Am.
Selected Recent Publications
  • Parfrey, PS, Davidson, WS, Green, JS (2002). Clinical and genetic epidemiology of inherited renal disease in Newfoundland. Kidney International 61:1925-1934. Katsanis, N, Ansley, SJ, Badano, JL, Eichers, ER, Lewis, RA, Hoskins, BE, Scambler, PJ, Davidson, WS, Beales, PL, Lupski, JR. (2001). Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder. Science 293: 2256-2259. Beales, PL, Katsanis, N, Lewis, RA, Ansley, SJ, Elcioglu, N, Raza, J, Woods, MO, Green, JS, Parfrey, PS, Davidson, WS, Lupski, JR (2001). Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci. Am. J. Hum. Genet. 68:606-616. Katsanis, N, Beales, PL, Woods, MO, Lewis, RA, Green, JS, Parfrey, PS, Ansley, SJ, Davidson, WS, Lupski, JR (2000). Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nature Genetics 26:67-70. Young, TL, Woods, MO, Parfrey, PS, Green, JS, Hefferton, D, Davidson, WS (1999). A Founder Effect in the Newfoundland Population Reduces the Bardet-Biedl Syndrome I (BBS1) Interval to 1 cM. Am. J. Hum. Genet. 65:1680-1687.

51. Perinnöllisyysklinikan Tietolehtiset Sekä Tilauslomake
Avainsanat (synonyymit) LaurenceMoon-Bardet-Biedl – oireyhtymä, Laurence-Moon-Bardet-Biedl– syndrooma, bardet-biedl syndrome, Laurence-Moon-Bardet
Erikoislääkäri Maarit Peippo
Väestöliiton perinnöllisyysklinikka 2002 Bardet-Biedl-oireyhtymästä Avainsanat (synonyymit): Laurence-Moon-Bardet-Biedl – oireyhtymä, Laurence-Moon-Bardet-Biedl – syndrooma, Bardet-Biedl syndrome, Laurence-Moon-Bardet-Biedl syndrome Bardet-Biedl-oireyhtymä (BBS) on eräitä arabiväestöjä lukuun ottamatta erittäin harvinainen oireyhtymä, jonka esiintyvyydeksi on arvioitu 1:150 000. Oireyhtymän pääoireet ovat silmänpohjan rappeuma, kehityksen hitaus ja oppimisvaikeudet, ylipainoisuus, ylimääräiset pikkuvarpaat ja/tai pikkusormet sekä sukurauhasten toimintaan vaikuttavien hormonien vaje. Oireet ilmenevät ylimääräisiä sormia tai varpaita lukuunottamatta vähitellen lapsen iän karttuessa ja diagnoosin on usein päästy vasta kouluikää lähestyttäessä. Diagnoosin asettamiseen vaaditaan neljä mainituista viidestä pääoireesta ellei suvussa ole aiempaa BBS-tapausta. BBS:ää hyvin läheisesti muistuttavat Laurence-Moon, Alström, Biemond ja McKusic-Kaufman -oireyhtymät. Varsinkin BBS-, Laurence-Moon ja Alström -piirteitä saattaa esiintyä saman sisarussarjankin eri potilailla ja oireyhtyminen lopullinen erottelu toisistaan ratkennee vasta, kun niitten taustalla olevat geenit löytyvät. Toiset asiantuntijat haluavat tässä vaiheessa pitää BBS:ää, Laurence-Moonia ja Alströmiä yhtenä tautikokonaisuutena.

52. IGM: Faculty & Staff: Faculty Profile: Nicholas Katsanis, PhD
Our laboratory is interested in understanding this phenomenon and has focusedon bardetbiedl syndrome (BBS), a clinically and genetically heterogeneous

53. Searchalot Directory For Bardet-Biedl Syndrome
Related Web Sites. National Library of Medicine A summary of Bardet-Biedlsyndrome and a list of major features. Readers Digest
Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Neurological Disorders ... Brain Diseases : Bardet-Biedl Syndrome Related Web Sites
  • 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.

A definition of Laurence-Moon syndrome followed by the epidemiology, pathogenesis, clinical features, Category Health Conditions and Diseases Laurence-Moon Syndrome...... PATHOGENESIS 1. Background. first described by Laurence and Moon in 1866 and isa specific entity separate from the bardetbiedl syndrome. 2. Genetic Defect.
  • Pediatric Database (PEDBASE)
  • Discipline: GEN
  • Last Updated: 12/23/94
    A genetic disorder of unknown etiology characterized by progressive neurological, ophthalmologic, and endocrine manifestations resulting in a deteriorating handicapping condition.
    • incidence: rare
    • age of onset:
      • birth (hypogenitalia)
    • risk factors:
      • familial - autosomal recessive
        • chrom.#: ?
        • gene: ?
      • M = F
      • Arab population of Kuwait
      1. Background
      • first described by Laurence and Moon in 1866 and is a specific entity separate from the Bardet-Biedl Syndrome
      2. Genetic Defect
      1. Neurological Manifestations
      • present in childhood
      • mental retardation
      2. Ophthalmologic Manifestations
      1. Retinitis Pigmentosa
      • retinal pigment accumulations progressing from the periphery to the central retina
      • prominent macular involvement in some cases
      • night blindness
      3. Endocrine Manifestations
      • hypogenitalism present at birth
      • hypogonadotrophic hypogonadism noted postpubertal
      1. Endocrine
    • 1. Hypogonadotrophic Hypogonadism
  • 55. Lund University, Doctoral Dissertation
    Title and subtitle LaurenceMoon-bardet-biedl syndrome. Keywords Laurence-Moon-Bardet-Biedlsyndrome, Alström syndrome, bardet-biedl syndrome.

    56. Obesity-related Mendelian Disorders
    2p13p12. Macari 98. 209901, bardet-biedl syndrome 1 BBS1, 11q13, NA. 209900, Bardet-BiedlSyndrome 2 BBS2, 16q21. NA. 600151. bardet-biedl syndrome 3 BBS3, 3p13-p12, NA.
    Obesity-related Mendelian disorders
    with known map location a)
    Autosomal Dominant Autosomal Recessive X-Linked Human Obesity Gene Map Menu
    Adapted from:
    Chagnon, Y. C., Pérusse, L. , Weisnagel, S. J., Rankinen, T. and Bouchard, C. The Human Obesity Gene Map: The 1999 Update. Obesity Research Abstract MIM number Disorder Locus Candidate Gene Ref Autosomal Dominant Achondroplasia ( ACH Shiang 94
    Superti-Furga 95

    Albright Hereditary Osteodystrophy
    Patten 90

    Schwindinger 94
    Albright Hereditary Osteodystrophy 2 (
    Hedeland 92
    Angelman Syndrome with Obesity (AGS Gillessen-Kaesbach 99 Posterior Polymorphous corneal Dystrophy ( PPCD NA Insulin Resistance Syndromes (IRS INSR Wertheimer 94 Kim 92 Familial Partial Lipodystrophy Dunnigan ( FPL D) Anderson 99 Prader-Willi Syndrome ( PWS SNRPN Kulish 99 Ohta 99 Ulnar-Mammary Schinzel Syndrome ( UMS Bamshad 97 Thyroid Hormone Resistance Syndrome ( THRS THRB Behr 97 Autosomal Recessive Alstrom Syndrome ( Macari 98 Bardet-Biedl Syndrome 1 NA Bardet-Biedl Syndrome 2 NA Bardet-Biedl Syndrome 3 NA Bardet-Biedl Syndrome 4 Gorman 99 Bardet-Biedl Syndrome 5 Woods 99 Young 99 Berardinelli-Seip Congenital Lipodystrophy ( BSCL Garg 99 Cohen Syndrome ( NA Carbohydrate-Deficient Glycoprotein Syndrome Type IA ( Matthijs 97 Fanconi-Bickel Syndrome ( FBS Santer 97 X-LINKED Borjeson-Forssman-Lehmann Syndrome ( BFLS Gecz 99 Choroideremia with Deafness ( CHOD NA Mehmo Syndrome ( MEHMO NA Simpson-Golabi-Behmel 1 ( SGBS Pilia 96 Neri 98 Simpson-Golabi-Behmel 2 ( Brzustowicz 99 Wilson-Turner Syndrome (

    57. Human Gene Glossary And Nomenclature
    B C, BBS1, bardetbiedl syndrome 1, 11q13. BBS2, bardet-biedl syndrome 2, 16q21.BBS3*, bardet-biedl syndrome 3, 3p. BBS4, bardet-biedl syndrome 4, 15q22.3-q23.
    Human Gene Glossary
    The gene symbol and name are from the HUGO Nomenclature Committee using the Human Gene Nomenclature Database available online at:
    The cytogenetic locations are from the GDB Genome DataBase available online at
    Search: A B C D ... W Gene or Marker Name Location A ACH Achondroplasia acid phosphatase ADA adenosine deaminase adrenergic, alpha-2A-, receptor adrenergic, alpha-2B-, receptor adrenergic, beta-2-, receptor adrenergic, beta-3-, receptor AGS Angelman Syndrome with Obesity AGT angiotensinogen AHO Albright Hereditary Osteodystrophy Albright Hereditary Osteodystrophy 2 adenylate kinase-1 apolipoprotein A -IV apolipoprotein A II APOB apolipoprotein B APOD apolipoprotein D 3q27-qter ASIP agouti signaling protein ATPase, Na+/K+ transporting, alpha 1 polypeptide ATPase, Na+/K+ transporting, alpha 2 polypeptide ATPase, Na+/K+ transporting, beta 1 polypeptide B C Bardet-Biedl syndrome 1 Bardet-Biedl syndrome 2 Bardet-Biedl syndrome 3 Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 5 BF B-Factor , properdin BFLS Borjeson-Forssman-Lehman syndrome Core-binding factor , alpha unit 2 (MTG8) CCKBR cholecystokinin B receptor Carbohydrate-Deficient Glycoprotein Syndrome type Ia CD36 antigen (collagen type I receptor, thrombospondinreceptor)-like 1

    58. IComm: File Not Found!
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    59. Conditions And Diseases: Neurological Disorders: Brain Diseases: Bardet-Biedl Sy
    Conditions and Diseases Neurological Disorders Brain Diseasesbardetbiedl syndrome. See also Health Conditions and Diseases
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    60. RNIB Research Library Bibliography - Retinitis Pigmentosa (Including Laurence-Mo
    Retinitis Pigmentosa (Including LaurenceMoon-bardet-biedl syndrome) a selectbibliography for the layman. Laurence-Moon-bardet-biedl syndrome.
    Search RNIB site for:
    RNIB Research Library Bibliography
    Retinitis Pigmentosa (Including Laurence-Moon-Bardet-Biedl Syndrome): a select bibliography for the layman
    ARDEN, G. What is retinitis pigmentosa? Talking Sense , Winter 1986, BAIO, E. Young people with R.P. (retinitis pigmentosa): a short talk delivered at the branch chairmen's meeting of the British Retinitis Pigmentosa Society held in London on 24th April 1983. Dublin: RP Ireland - Fighting Blindness, 1983. Unpaged (18pp.). BARRON, S. Psychological problems of retinitis pigmentosa: [paper] presented at the third annual workshop of the National Retinitis Pigmentosa Foundation, New York, October 4, 1975. Dover, DE: The Author, 1975. 15pp. BAUSERMAN, C.M. Orientation and mobility for the retinitis pigmentosa student. Roanoke, VA: The Author, 1980. 18pp. Typescript. BERGSMA, D.R. Ophthalmologic aspects of Usher's syndrome. Baltimore, MD: National Retinitis Pigmentosa Foundation, n.d. [c.1973]. 9pp. BERSON, E.L. Retinitis pigmentosa: early diagnosis and some aspects of prevention.

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