61. Log In Problems 10 alstrom syndrome has associated neurosensory deafness, but unlike BardetBiedlsyndrome, is not usually associated with mental retardation. http://www.medscape.com/viewarticle/479108_3

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62. Alms1-disrupted Mice Recapitulate Human Alstrom Syndrome -- Collin Et Al. 14 (16 Mutations in the human ALMS1 gene cause Alström syndrome (AS), a progressivedisease characterized by neurosensory deficits and by metabolic defects http://hmg.oxfordjournals.org/cgi/content/abstract/14/16/2323

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Human Molecular Genetics Advance Access originally published online on July 6, 2005 Human Molecular Genetics 2005 14(16):2323-2333; doi:10.1093/hmg/ddi235 This Article Full Text Full Text (PDF) All Versions of this Article: most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Collin, G.B. Articles by Naggert, J.K. G.B. Collin E. Cyr R. Bronson J.D. Marshall E.J. Gifford W. Hicks S.A. Murray Q.Y. Zheng R.S. Smith P.M. Nishina and J.K. Naggert The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA, Harvard Medical School, Boston, MA, USA and Department of Physiology, Key Laboratory of Environment and Genes Related Diseases, Xi'an Jiaotong University School of Medicine, Xi'an 710061, China To whom correspondence should be addressed. Tel: +1 2072886382; Fax: +1 2072886079; Email:

63. Hum. Mol. Genet. -- Sign In Page (1996) Natural history of alstrom syndrome in early childhood onset with (2005) New alstrom syndrome phenotypes based on the evaluation of 182 cases. http://hmg.oxfordjournals.org/cgi/content/full/14/16/2323

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... SEARCH QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription* to Human Molecular Genetics Online. * Please note that articles prior to 1996 are not normally available via a current subscription. In order to view content before this time, access to the Oxford Journals digital archive is required. Alternatively, you may purchase short-term access on a Pay per Article basis. Please see below for more details. Full Text Collin et al. Hum. Mol. Genet.. This Article Abstract Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Collin, G.B. Articles by Naggert, J.K. To view this item, select one of the options below: Sign In User Name Sign in without cookies. Can't get past this page? Help with Cookies. Need to Activate? Password Forgot your user name or password?

64. Department Of Human Genetics, School Of Medicine, Emory University : Ask The Gen alstrom syndrome is a rare but serious disorder that can affect many systems However, a diagnosis of alstrom syndrome may be difficult to make early on http://server2k.genetics.emory.edu/ask/user/view_response.pl?resp=328&temp=3

65. Retina International's Scientific Newsletter - Syndrome Loci type 2 diabetes and neurosensory degeneration in alstrom syndrome. large gene with a tandem repeat encoding 47 amino acids, causes alstrom syndrome. http://www.retina-international.org/sci-news/syndrom.htm

Disease Database Syndromes Recent update from: 08.03.04 Disease Gene locus MIM Gene Gene MIM MoI Assignment Linked Marker [cM] Remarks References Cerebellar ataxia, ad, with retinal degeneration ADCAII, SCA7 ad Expanding translated CAG repeat Alagille Syndrome AGS ad Chinese boy - Interstitial deletion 46,XY,der(20)dir ins(7;20)(q11.23;p11.23p12.2 or p12.2p13)mat Mother - 46,XX,dir ins(7;20)(q11.23; p11.23p12.2 or p12.2p13) Alström Syndrome ALMS ar Refsum Disease PAHX ar Refsum Disease ar Posterior Column Ataxia with Retinitis Pigmentosa ar Wolfram Syndrome (Diabetes insipidus, diabetes mellitus, optic atrophy and deafness) DIDMOAD ar Vasculopathy, Retinal, With Cerebral Leukodystrophy HERNS, CRV, HRV ar Refsum Disease, infantile IRD ar Refsum Disease, infantile IRD ar Kearns-Sayre syndrome KS mt mitochondrial North Carolina Macular Dystrophy segregating with progressive sensorineural deafness ad Progressive sensorineural deafness present in all affecteds over age 40 Linkage to MCDR1 excluded Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration MRST ar Parents were at least first cousins Mohr-Tranebjaerg Syndrome MTS xl NARP syndrome mt mitochondrial Norrie disease ND NDP xl tel- DXS7 (L1.28) -MAOB- NDP- DXS426-cen

66. CMGS-Wolfram Syndrome/11.2.99 alstrom syndrome, Lawrence Moon syndrome, Kearn- Sayre syndrome and deafnessand diabetes in the 3243 mitochondrial DNA mutation. http://www.ich.ucl.ac.uk/cmgs/wolfram.htm

Wolfram Syndrome Wolfram syndrome is an autosomal recessive disorder characterised by juvenile-onset diabetes mellitus and optic atrophy. The acronym DIDMOAD is used to describe the syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). The median age of death is 30 years (range 25-49 years). Psychiatric disorders have also been associated with Wolfram syndrome. In a study of 68 patients, 60% were reported to have episodes of severe depression, organic psychosis or organic brain syndrome. Presumed carriers may be predisposed to psychiatric illness. Differential diagnosis includes congenital rubella syndrome, Leber's hereditary optic atrophy and thiamine responsive anaemia with DM and deafness. The association of DM and optic atrophy also occurs in Friedrich's ataxia,Refsum disease, Alstrom syndrome, Lawrence- Moon syndrome, Kearn- Sayre syndrome and deafness and diabetes in the 3243 mitochondrial DNA mutation. The estimated prevalence in the U.K. is 1/770,000 with a carrier frequency of 1/354 (lower than the 1/100,00 in the U.S. population but this is probably due to methodological differences) Mapping of the gene Positional cloning was used Using microsatellite repeat polymorphisms reported in the Genethon map of the human genome, the Wolfram gene had been found to be linked to markers on the short arm of chromosome 4 with a maximum LOD score between D4S431-D4S394.

67. Bone Cancers Ewing's Sarcoma of the human homologue, and evaluation as a candidate for alstrom syndrome . ocular disorders and those with alstrom syndrome for mutations in LBX2. http://www.oncolink.com/types/article.cfm?c=1&s=2&ss=11&id=6262

68. The Laryngoscope - Fulltext: Volume 112(1) January 2002 P 1-7 Use Of Laboratory It may also exclude alstrom syndrome, a rare autosomalrecessive inherited alstrom syndrome in two siblings. J Formos Med Assoc 2001; 100 45-49. http://www.laryngoscope.com/pt/re/laryngoscope/fulltext.00005537-200201000-00001

LWWOnline LOGIN eALERTS REGISTER ... Publish Ahead of Print Use of Laboratory Evaluation and... ARTICLE LINKS: Abstract PDF (307 K) References (50) View full size inline images The Laryngoscope Volume 112(1) January 2002 pp 1-7 Use of Laboratory Evaluation and Radiologic Imaging in the Diagnostic Evaluation of Children With Sensorineural Hearing Loss Mafong, Derek D. BS; Shin, Edward J. MD; Lalwani, Anil K. MD Presented at the Annual Meeting of the Triological Society, Palm Desert, CA, May 14, 2001. Editor's Note: This Manuscript was accepted for publication October 2, 2001. Article Outline Abstract INTRODUCTION MATERIALS AND METHODS RESULTS ... Citing Articles Figures/Tables Table 1 Table 2 Table 3 Fig. 1 ... Fig. 2 Abstract TOP Objective : Laboratory testing and radiologic imaging are commonly used to delineate syndromic from nonsyndromic sensorineural HL (SNHL). The aim of this study was to examine the yield of laboratory tests and radiologic imaging commonly used in the diagnostic evaluation of SNHL in children. Study Design : Retrospective analysis of 114 (54 female, 60 male) consecutively investigated children with SNHL between 1998 and 2000 at a tertiary-care university hospital. Methods : Results of routine laboratory testing to assess autoimmunity, blood dyscrasias, endocrine abnormalities, renal function, infection, and cardiac testing were reviewed. Results of radiologic evaluation were also reviewed. In general, computed tomography (CT) was obtained in patients with symmetric SNHL, whereas magnetic resonance imaging (MRI) with or without CT was obtained in asymmetric SNHL.

69. Index alstrom syndrome International Alstrom s Syndrome Alstrom s Syndrome Alt.Support.Shyness - Anxiety Attacks / Phobias / Agoraphobia http://webcenter.health.webmd.netscape.com/hw/index/index-shc-A.asp?printing=tru

70. Anne Nordstrom, Lecturer and an international epidemiological study of alstrom syndrome, a handbookfor the families and physicians who live and work with alstrom syndrome, http://www.unh.edu/sociology/faculty/nordstrom.html

71. Prevent Disease.com - Gene Found For Rare Obesity Disorder alstrom syndrome is an extremely rare hereditary condition that was first identifiedin 1959. The disorder, affecting only around 170 people worldwide, http://preventdisease.com/news/articles/gene_found_obesity.shtml

Subscribe Unsubscribe Health Headlines Get the latest news in prevention and health matters. This feature includes daily postings and recent archives to keep you up to date on health reports and wires around the world. Weekly Wellness Get informed with weekly wellness facts in a diversity of health topics from prevention to fitness and nutrition. Tips Great tips on what you need to know about keeping healthy and active all year round. Gene Found for Rare Obesity Disorder Exce r pt By Melissa Schorr , Reuter s H ealth NEW YORK (Reuters Health) - Researchers in the US and Britain have pinpointed a gene they say causes Alstrom syndrome, a rare, inherited disorder that causes obesity, hearing and vision disorders in infants and eventually, premature death. "If we want to figure out ways to treat disease, we need to know the pathology and nature of the gene, that's the first step," study co-author Dr. Jurgen K. Naggert, a staff scientist at the Jackson Laboratory in Bar Harbor, Maine, told Reuters Health. "One day, we hope to contribute to the understanding of this disease and figure a way out of it."

72. Radspace : ¿µ»óÀÇÇб³À° Library alstrom syndrome / About alstrom syndrome. Clinical Features, Mode Of Inheritance,alstrom syndrome Research, Medical Literature, Society For Alstrom http://bbs.radiology.or.kr/radspace/diseases/index.asp?ID=D005003&page=1

73. The Alstrom Syndrome: Ophthalmic Histopathology And Retinal Ultrastructure -- Se New alstrom syndrome Phenotypes Based on the Evaluation of 182 Cases alstrom syndrome confirmation of linkage to chromosome 2p1213 and phenotypic http://bjo.bmjjournals.com/cgi/content/abstract/68/7/494

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Submit a response Alert me when this article is cited Alert me when eLetters are posted Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Sebag, J. Articles by Craft, J. L. British Journal of Ophthalmology, 1984, Vol 68, 494-501 ORIGINAL ARTICLES The Alstrom syndrome: ophthalmic histopathology and retinal ultrastructure J Sebag, DM Albert and JL Craft A case of pigmentary retinal degeneration causing blindness in early childhood, progressive neurosensory hearing loss, diabetes mellitus, acanthosis nigricans, hypogonadism with normal secondary sex characteristics, and kyphoscoliosis without polydactyly and with no mental

74. University Of Miami School Of Medicine - Glossary - Alstrom-Hallgren Syndrome AlstromHallgren syndrome See alstrom syndrome. Glossary content Copyright ©1996-2002 MedicineNet, Inc. All rights reserved. http://www.med.miami.edu/glossary/art.asp?articlekey=39605

75. Genetic Disorders Information, Support And Other Resources For UK Patients Paignton, Devon TQ3 1LH Tel 01803 524238 Helpline 01803 524238 Emailinfo@alstrom.org.uk Hold a National alstrom syndrome UK medical screening clinic http://www.equip.nhs.uk/topics/genetic.html

var sc_project=455128; var sc_partition=2; Genetic disorders Home Information Topics Further information General Health Information ... Other information What are genetic disorders? The following links take you straight to pages of information about genetic disorders. This information has been checked by doctors to ensure it is correct and appropriate for UK patients. British Society for Paediatric Endocrinology and Diabetes - contains information written by a specialist doctor on: Achondroplasia, Congenital Adrenal Hyperplasia (21 hydroxylase), Congenital Adrenal Hyperplasia (11 hydroxylase), Congenital Adrenal Hyperplasia - treatment in pregnancy, Complete Androgen Insensitivity Syndrome (CAIS), Congenital Hypothyroidism, Coeliac Disease, Delayed Puberty, Diabetes Insipidus, Grave's Disease (Thyrotoxicosis), Growing Pains, Gynaecomastia, Hypopituitarism, Hypothyroidism (Acquired), Klinefelter's Syndrome, Labial Adhesions, Marfan's Syndrome, Overweight, Partial Androgen Insensitivity Syndrome (PAIS), Precocious Puberty, Steroid Replacement, Steroid Treatment, Tall Stature, Turner's Syndrome Contact a Family - information and support on many specific conditions and rare disorders written by doctors EQUIP also has separate pages of information on rheumatic disorders/arthritis congenital heart diseases food intolerance and many other

76. Diabetes Information, Support And Other Resources For UK Patients Alström Syndrome UK, 49 Southfield Avenue, Paignton, Devon TQ3 1LH Tel 01803 01803 524238 Email info@alstrom.org.uk Hold a National alstrom syndrome UK http://www.equip.nhs.uk/topics/diabetes.html

var sc_project=455128; var sc_partition=2; Diabetes Home Information Topics Related topics: eye disorders hormone disorders kidney disorders Further information ... Other information What is diabetes? The following links take you straight to pages of information about diabetes. This information has been checked by doctors to ensure it is correct and appropriate for UK patients. All aspects of diabetes - Diabetes UK is a UK charity offering booklets and online information and the latest research on diabetes Diabetic foot problems - this UK site, The Diabetic Foot, is for professionals but has a leaflet for diabetic patients Diabetic kidney problems - Edinburgh Renal Unit provides information on many kidney disorders including diabetic disorders Links to useful websites: The following links contain information about diabetes. The information on these websites has not been checked by our doctors, but they are rated as good quality sites. Alternative Diabetes - an American site which has a dictionary of diabetes terms and tools for helping self-management BBC Diabetes Section - information and news from the BBC Diabetes Australia Multilingual Internet Resource handouts on various diabetes topics are available in: Arabic, Chinese, Croatian, English, Greek, Hindi, Indonesian, Italian, Serbian, Spanish, Thai, Turkish, Ukranian, and Vietnamese

77. Research Grants Awarded In October 2003 alstrom syndrome is the rare inherited association of visual problems, obesity,deafness, and diabetes. The diabetes component, due to resistance to the http://www.diabetes.org.uk/research/grants/awardsoct03.htm

The following grants were awarded by Diabetes UK in October 2003. A brief synopsis for each successful grant has been adapted from the original grant applications. Control of diabetes Secretion and action of insulin Prevention and treatment of complications Causes of diabetes ... Genetics of diabetes Control of diabetes M Daly, T Robson, R Paisey and K Williams, Royal Devon and Exeter Healthcare Trust, Exeter January 2004 December 2006 Reducing carbohydrate intake for achieving weight loss and risk factor control in Type 2 Diabetes M Juszczak and M Press, Royal Free Hospital, London Project Grant The effect of heparinoids on the intrahepatic engraftment of pancreatic islets following transplantation A Oubrie, University of East Anglia, Norwich

78. Nohmlgwithhits 7401 1 USH3A, Usher syndrome, type 3, 606397 3, 3q21q25, Usher syndrome 3A.7840 1 ALMS1, alstrom syndrome, 606844 3, 2p13, alstrom syndrome 1 http://fantom.gsc.riken.jp/supplement/disease_genes/nohmlgwithhits.html

Human Disease Genes with no Mouse Orthologs with hits in the FANTOM2 set Human LocusID number of clones Human Gene Symbol Phenotype OMIM GI Human Chromosomal Position Human Gene Name (Disease Name) Pseudo-Zellweger syndrome acetyl-Coenzyme A acyltransferase 1 (peroxisomal 3-oxoacyl-Coenzyme A thiolase) ACACA Acetyl-CoA carboxylase deficiency acetyl-Coenzyme A carboxylase alpha Alcoholism, susceptibility to alcohol dehydrogenase IB (class I), beta polypeptide Bardet-Biedl syndrome 4 Bardet-Biedl syndrome 4 BLMH Alzheimer disease, susceptibility to bleomycin hydrolase C1r/C1s deficiency, combined complement component 1, s subcomponent C8 deficiency, type I complement component 8, alpha polypeptide Ceroid-lipofuscinosis, neuronal-5, variant late infantile ceroid-lipofuscinosis, neuronal 5 Methemoglobinemia due to cytochrome b5 deficiency cytochrome b-5 CYLD Cylindromatosis, familial cylindromatosis (turban tumor syndrome) Warfarin sensitivity cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9 SARDH Sarcosinemia sarcosine dehydrogenase DPYD Thymine-uraciluria dihydropyrimidine dehydrogenase Factor XIIIA deficiency coagulation factor XIII, A1 polypeptide

79. RedNova News - Health - Subcellular Localization Of ALMS1 Supports Involvement O Alstrm syndrome is a rare autosomal recessive disorder caused by mutations in a Taylor JF alstrom syndrome report of 22 cases and literature review. http://www.rednova.com/news/health/148670/subcellular_localization_of_alms1_supp

ANDP("ntn"); Ads_kid=0;Ads_bid=0;Ads_xl=0;Ads_yl=0;Ads_xp='';Ads_yp='';Ads_xp1='';Ads_yp1='';Ads_opt=0;Ads_wrd='[KeyWord]';Ads_prf='';Ads_par='';Ads_cnturl='';Ads_sec=0;Ads_channels=''; Home News Video Images ... Site Map SPECIAL NEWS Return to Flight REDNOVA NEWS Space Science Technology Health ... Video News REDNOVA EXTRAS RedNova E-Mail My RedNova Join RedNova RSS Feeds ... Tell A Friend, Win $500 Ads by Google Posted on: Sunday, 8 May 2005, 03:00 CDT E-mail this to a friend Printable version Discuss this story in the forum Change Font Size: A A A Subcellular Localization of ALMS1 Supports Involvement of Centrosome and Basal Body Dysfunction in the Pathogenesis of Obesity, Insulin Resistance, and Type 2 Diabetes BBS, Bardet-Biedl syndrome; TRD, tandem repeat domain. To gain insight into the role of ALMS1, we have investigated its subcellular localization and tissue distribution by immunofluorescence. We show that ALMS1 is widely expressed and localizes to centrosomes and the base of cilia. Coupled with recent data on the function of genes associated with BBS, the subcellular localization of ALMS1 implicates centrosome and basal body dysfunction as a critical mechanism in the pathogenesis of obesity, insulin resistance, and type 2 diabetes. RESEARCH DESIGN AND METHODS Cell culture. Cells were grown in chambered slides in Dulbecco's modified Eagle medium supplemented with 10% fetal bovine serum and antibiotics at 37C and 5% CO2 (reagents from PAA Laboratories, Yeovil, U.K.). For microtubule depolymerization experiments, cells were treated with either 10 g/ml nocodazole (Sigma-Aldrich) or vehicle alone for 1 h at 37C and immediately processed for immunocytochemistry, as described below. With local ethical committee permission and informed consent, dermal fibroblaste were obtained from skin biopsies from a normal fetus or an individual with Alstrm syndrome with known genotype: individual F1Ch, as described by Hearn et al. (8).

80. FindArticles Search For "Obesity / Research" alstrom syndrome is a rare autosomal recessive disorder caused by mutations ina novel gene of unknown function, ALMS1. Central features of alstrom syndrome http://www.findarticles.com/p/search?tb=art&qt=Obesity / Research

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