61. Spinal Deformity In Familial Dysautonomia : Prevalence, And Results Of Bracing - Background familial dysautonomia (RileyDay syndrome) is an autosomal recessive disorder primarily affecting individuals of Ashkenazi Jewish extraction. http://www.ejbjs.org/cgi/content/abstract/82/11/1558

JBJS CME HELP FEEDBACK ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) Letters to the Editor: Submit a response ... 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 ... Reprints and Permissions PubMed PubMed Citation Articles by Hayek, S. Articles by Burke, S. W. Related Collections Pediatric Disease Spine Pediatrics Growth Disturbances ... Immobilization/Bracing The Journal of Bone and Joint Surgery The Journal of Bone and Joint Surgery, Inc. Spinal Deformity in Familial Dysautonomia Prevalence, and Results of Bracing* Shlomo Hayek, M.D. F. Javier Laplaza, M.D. Felicia B. Axelrod, M.D. and Stephen W. Burke, M.D. Investigation performed at the Department of Pediatric Orthopaedics, The Hospital for Special Surgery, New York, N.Y. *No benefits in any form have been received or will be received from a commercial party related directly or indirectly to the subject of this article. No funds were received in support of this study. Department of Pediatric Orthopaedics, Tel Aviv Sourasky Medical Center, 6 Weizman Street, Tel Aviv 64239, Israel.

62. Orthopaedic Manifestations Of Familial Dysautonomia : A Review Of One Hundred An Background familial dysautonomia is a hereditary multisystemic disease primarily affecting people of Ashkenazi Jewish descent. Musculoskeletal problems are http://www.ejbjs.org/cgi/content/abstract/82/11/1563

JBJS CME HELP FEEDBACK ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) Letters to the Editor: Submit a response ... 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 ... Reprints and Permissions PubMed PubMed Citation Articles by Bar-On, E. Articles by Maayan, C. Related Collections Pediatric Disease Spine Pediatrics Growth Disturbances ... Deformity The Journal of Bone and Joint Surgery The Journal of Bone and Joint Surgery, Inc. Orthopaedic Manifestations of Familial Dysautonomia A Review of One Hundred and Thirty-six Patients* Elhanan Bar-On, M.D. Yizhar Floman, M.D. Shaul Sagiv, M.D. Kalman Katz, M.D. Rivka D. Pollak, M.D.# and Channa Maayan, M.D.# Investigation performed at Hadassah Medical Center, Jerusalem, and Schneider Children's Medical Center of Israel, Rabin Medical Center, Petach-Tivka, Israel *No benefits in any form have been received or will be received from a commercial party related directly or indirectly to the subject of this article. No funds were received in support of this study.

63. Localization Of The Gene For Familial Dysautonomia On Chromosome 9 And Definitio Brunt, PW McKusick, VA familial dysautonomia, a report of genetic and clinical Exclusion of familial dysautonomia from more than 60% of the genome. http://www.nature.com/ng/journal/v4/n2/abs/ng0693-160.html

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Article Nature Genetics doi:10.1038/ng0693-160 Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis Anat Blumenfeld , Susan A. Slaugenhaupt , Felicia B. Axelrod , Diane E. Lucente , Channa Maayan , Christopher B. Liebert , Laurie J. Ozelius , James A. Trofatter , Jonathan L. Haines , Xandra O. Breakefield Molecular Neurogenetics Unit, Neurology Service, Massachusetts General Hospital, Boston, Massachusetts 02129, USA Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA Department of Neurology, Harvard Medical School, Boston, Massachusetts 02115, USA Department of Pediatrics, New York University School of Medicine, New York, New York 10016, USA Department of Pediatrics, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel

64. HighWire -- Browse Journals - Familial Dysautonomia Browse Journals publishing on familial dysautonomia, (return to Topic List page) Alphabet, , Frequency of articles in familial dysautonomia http://highwire.stanford.edu/lists/topic_dir/602925/602926/603611/603615/focus.d

ANNOUNCEMENT: CHECK OUT THE PREVIEW RELEASE OF OUR NEW WEB SITE! My Favorite Journals ( HW-hosted journals HW-hosted Medline Author: Keyword(s): Year: Vol: Page: Home Adv. Search For Institutions For Publishers ... Sign in or register for access to all HighWire Press customization features Browse Journals publishing on Familial Dysautonomia: (return to Topic List page) Familial Dysautonomia Sort by: Alphabet Frequency of articles in Familial Dysautonomia Focus of journal on Familial Dysautonomia What's this? Journals focusing on Familial Dysautonomia (in order by highest focus) American Journal of Respiratory and Critical Care Medicine free ISSUES info free ISSUES ... Autonomic Nervous System Diseases Familial Dysautonomia Home Adv. Search For Institutions For Publishers ... partners/suppliers

65. PATENT ISSUED FOR NOVEL TREATMENT FOR FAMILIAL DYSAUTONOMIA (Riley-Day Syndrome) PR The United States Patent and Trademark Office (USPTO) has issued today Patent 6660831 METHOD FOR DIAGNOSING AND TREATING DYSAUTONOMIA AND OTHER http://www.prweb.com/releases/2003/12/prweb93563.htm

PR Web (English) AmbosMedios (Español WunZhang (Traditional Chinese Home ... Search Archives September 8, 2005 CUSTOM PRESS RELEASE FEED FOR JOURNALISTS MEMBER LOGIN (SUBMIT YOUR PRESS RELEASE) Customize your free daily PRWEB news feed. Register Here to Send Your Press Release ... All Press Releases for December 10, 2003 PATENT ISSUED FOR NOVEL TREATMENT FOR FAMILIAL DYSAUTONOMIA (Riley-Day Syndrome) The United States Patent and Trademark Office (USPTO) has issued today Patent # 6,660,831 METHOD FOR DIAGNOSING AND TREATING DYSAUTONOMIA AND OTHER DYSAUTONOMIC CONDITIONS. The patent, which will remain in force until 2017, covers the use of the neuropeptide secretin for the treatment of symptoms associated with familial dysautonomia. The patent was issued to Dr. Joan Fallon with offices in Yonkers, NY. Familal dysautonomia (FD) which is also known as Riley-day syndrome, is an autosomal recessive disease that affects approximately 1 in 4,000 individuals of Ashkenazi Jewish descent. This disorder is marked by a reduction of unmyelinated and small myelinated fibers as well as a reduction of dopamine-beta-hyrozylase in the blood. YONKERS, NY (PRWEB) December 9 2003The United States Patent and Trademark Office (USPTO) has issued today Patent # 6,660,831 METHOD FOR DIAGNOSING AND TREATING DYSAUTONOMIA AND OTHER DYSAUTONOMIC CONDITIONS. The patent, which will remain in force until 2017, covers the use of the neuropeptide secretin for the treatment of symptoms associated with familial dysautonomia. The patent was issued to Dr. Joan Fallon with offices in Yonkers, NY.

66. RBM Online - Preimplantation Genetic Diagnosis For Familial familial dysautonomia (FD) is the most common congenital sensory neuropathy in Ashkenazi Keywords familial dysautonomia, IKBKAP gene, multiplex PCR, http://www.rbmonline.com/4DCGI/Article/Detail?38 1 = 831

67. PATENT ISSUED FOR NOVEL TREATMENT FOR FAMILIAL DYSAUTONOMIA (Riley-Day Syndrome) News Release The United States Patent and Trademark Office (USPTO) has issued today Patent 6660831 METHOD FOR DIAGNOSING AND TREATING DYSAUTONOMIA AND http://www.emediawire.com/releases/2003/12/prweb93563.htm

PR Web (English) AmbosMedios (Español WunZhang (Traditional Chinese Home ... Editors/Journalists September 8, 2005 CUSTOM PRESS RELEASE FEED FOR JOURNALISTS MEMBER LOGIN Customize your free daily PRWEB news feed. Register Here! ... All Press Releases for December 10, 2003 PATENT ISSUED FOR NOVEL TREATMENT FOR FAMILIAL DYSAUTONOMIA (Riley-Day Syndrome) The United States Patent and Trademark Office (USPTO) has issued today Patent # 6,660,831 METHOD FOR DIAGNOSING AND TREATING DYSAUTONOMIA AND OTHER DYSAUTONOMIC CONDITIONS. The patent, which will remain in force until 2017, covers the use of the neuropeptide secretin for the treatment of symptoms associated with familial dysautonomia. The patent was issued to Dr. Joan Fallon with offices in Yonkers, NY. Familal dysautonomia (FD) which is also known as Riley-day syndrome, is an autosomal recessive disease that affects approximately 1 in 4,000 individuals of Ashkenazi Jewish descent. This disorder is marked by a reduction of unmyelinated and small myelinated fibers as well as a reduction of dopamine-beta-hyrozylase in the blood. YONKERS, NY (PRWEB) December 9 2003The United States Patent and Trademark Office (USPTO) has issued today Patent # 6,660,831 METHOD FOR DIAGNOSING AND TREATING DYSAUTONOMIA AND OTHER DYSAUTONOMIC CONDITIONS. The patent, which will remain in force until 2017, covers the use of the neuropeptide secretin for the treatment of symptoms associated with familial dysautonomia. The patent was issued to Dr. Joan Fallon with offices in Yonkers, NY.

68. British Medical Journal: Screening For Familial Dysautonomia Will Begin Soon - N Full text of the article, Screening for familial dysautonomia will begin soon News from British Medical Journal, a publication in the field of Health http://www.findarticles.com/p/articles/mi_m0999/is_7282_322/ai_71316568

@import url(/css/us/style1.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); @import url(/css/us/artHome1.css); Advanced Search Home Help IN free articles only all articles this publication Automotive Sports 10,000,000 articles - not found on any other search engine. FindArticles British Medical Journal Feb 10, 2001 Content provided in partnership with 10,000,000 articles Not found on any other search engine. Related Searches Dysautonomia / Diagnosis Ashkenazim / Diseases Medical screening / Planning Featured Titles for AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports Screening for familial dysautonomia will begin soon - News British Medical Journal Feb 10, 2001 by Judy Siegel-Itzkovich Save a personal copy of this article and quickly find it again with Furl.net. It's free! Save it. Mass screening tests for familial dysautonomia, a degenerative and fatal neurological disorder that affects only people of Ashkenazi Jewish origin, will begin soon in Israel and the United States. This development follows the Israeli and US discovery of the mutant recessive gene responsible for familial dysautonomia, which is as common as the better known Tay-Sachs disease, which also particularly affects Ashkenazi Jews. Two single base pair mutations in this gene account for nearly all cases of familial dysautonomia, and the finding is expected to revolutionise genetic testing for the condition.

69. Familial Dysautonomia - DNA Analysis familial dysautonomia (FD) is an inherited sensory neuropathy that affects individuals of Ashkenazi Jewish descent. http://www.bcmgeneticlabs.org/tests/dna/fd.htm

FAMILIAL DYSAUTONOMIA DNA ANALYSIS Open Page in New Window Print This Page Return to Search IKBKAP IKBKAP gene that are associated with Familial Dysautonomia in the Ashkenazi Jewish population. Reasons For Referral: Confirmation of individuals with symptoms compatible with the diagnosis of Familial Dysautonomia. Carrier testing in individuals with a positive family history of FD. Population carrier screening in individuals of Ashkenazi Jewish descent with no family history of FD. Testing Methodology: Sensitivity: Specimen Requirements: Blood: EDTA (purple-top) tubes: Adults: Child: 5 cc; Infant: A requisition form and signed consent form must accompany the specimen. Genetic counseling is recommended prior to any genetic testing. Turnaround Time: 2-3 weeks CPT Codes and Prices: References: 1. Slaugenhaupt SA, et al. (2001) Am. J. Hum. Genet. 2. Anderson SL, et al. (2001) Am. J. Hum. Genet.

70. Familial Dysautonomia familial dysautonomia. Dear Chumi,. A while ago, I wrote to you about my two children with familial dysautonomia (FD) and asked if you would consider http://www.eisheschayil.com/private/fd.htm

Familial Dysautonomia

71. ► Riley-Day Syndrome Alternative Names. familial dysautonomia; Hereditary sensory and autonomic neuropathy type III. Causes, incidence, and risk factors http://www.umm.edu/ency/article/001387.htm

var MenuLinkedBy='AllWebMenus [2]', awmBN='530'; awmAltUrl=''; Disease Nutrition Surgery Symptoms Injury ... Z Maryland Medical Center Programs UM Hospital for Children Home Medical Reference Encyclopedia (English) Toggle English Spanish Riley-Day syndrome Overview Symptoms Treatment Prevention Definition: An inherited disorder that affects sensory and autonomic nerve function in many body parts/systems. Alternative Names: Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III Causes, incidence, and risk factors: Riley-Day syndrome is inherited as an autosomal recessive trait that is found predominantly in the European Jewish population (Ashkenazi Jews). The disease is caused by mutation of the IKBKAP gene on chromosome 9. It is not rare in Ashkenazi Jews where the incidence is estimated to be 1 in 3700 people. Infants with this condition have feeding problems and develop pneumonia caused by inhalation of their formula and food. Episodic vomiting and sweating spells begin following infancy. Young children also have breath-holding spells that produce unconsciousness Insensitivity to pain is a hallmark of Riley-Day syndrome and leads to unnoticed injuries or injuries that might not have occurred had the child sensed discomfort. Children do not feel the normal sensations that generally warn of impending injury such as drying of the eyes, pressure over pressure points, and

72. IngentaConnect Gallbladder Contraction In Familial Dysautonomia Gallbladder contraction in familial dysautonomia The impaired function of the autonomic nervous system in patients with familial dysautonomia (FD) is http://www.ingentaconnect.com/content/tandf/spae/1999/00000088/00000003/art00011

Home About Ingenta Ingenta Labs Help For Publishers Why go online? Why choose IngentaConnect? Why choose CustomConnect? Access and authentication ... Contact us For Researchers About IngentaConnect Search and browse Publications available Accessing articles ... Register For Librarians Why choose IngentaConnect? Why choose IngentaConnect Premium? Activating Subscriptions Purchasing articles ... Browse Publications Gallbladder contraction in familial dysautonomia Authors: Broide E; Strauss S; Kimchi NA; Abramowich D; Bishara M; Scapa E Source: Acta Paediatrica , Volume 88, Number 3, 12 March 1999, pp. 295-297(3) Publisher: Taylor and Francis Ltd View Table of Contents full text options Free trial available! Abstract: , respectively; p Language: English Document Type: Research article The full text article is available for purchase $38.12 plus tax The exact price (including tax) will be displayed in your shopping cart before you check out. You will be able to remove this item from your shopping cart at any time before you have completed check-out. or click here to sign up for a free trial View Table of Contents Back to top Terms and Conditions Page Help Quick Search Electronic content Fax/Ariel content Journal or book title Sign in: User name Password Remember me forgotten your password?

73. Rare Diseases Terms - Office Of Rare Diseases Hereditary sensory and autonomic neuropathy III; HSAN III. Riley Day syndrome. Information about familial dysautonomia is available from http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=7581

74. Familial Dysautonomia Prev Term familial disorder Next Term familial erythroblastic anemia. familial dysautonomia. Used for. familial autonomic nervous dysfunction http://crisp.cit.nih.gov/Thesaurus/00002915.htm

Prev Term: familial disorder Next Term: familial erythroblastic anemia familial dysautonomia Used for: familial autonomic nervous dysfunction Used for: Riley Day syndrome Broader Terms: congenital nervous system disorder Broader Terms: genetic disorder Related Terms: hereditary sensory neuropathy Related Terms: psychosis Scope Note: autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent; clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension, fixed pupils, excessive sweating, loss of pain and temperature sensation, and absent reflexes; pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. Term Number: Send your comments to: Melody Lowe

75. Familial Dysautonomia | Www.somethingjewish.co.uk familial dysautonomia (FD) is a rare genetic disease that results from the abnormal development of the nervous system, particularly the sensory and http://www.somethingjewish.co.uk/articles/365_familial_dysautonomi.htm

HOME CONTACT US JOIN OUR FREE MAILING LIST JEWISH BLOGS ... WORLD NEWS SEARCH Home Page About Us Register with us Fun Stuff ... Suzie Gold Last Updated: >>More from SJ Health E-mail this to a friend Familial Dysautonomia Familial dysautonomia (FD) is a rare genetic disease that results from the abnormal development of the nervous system, particularly the sensory and autonomic systems. Dys-auto-no-mia literally means the dysfunction of the autonomic nervous system. The autonomic nervous system controls involuntary functions, such as swallowing, temperature and blood pressure regulation. Individuals with FD cannot regulate these autonomic functions. In addition, they have problems in perceiving various sensations, such as pain and heat. One of the most striking manifestations is the inability to produce overflow tears with emotional crying. Severe eye problems are common because of the resulting dry eye and the absence of corneal response to foreign objects in the eye. Many infants have an abnormal suck at birth and feeding difficulties may persist, resulting in poor weight gain, as well as repeated pneumonia due to misdirected swallows. Other common manifestations are indifference to pain (including minimal or no response to bone fractures), inappropriate perception of heat and taste, excessive sweating, fluctuating blood pressures, gastrointestinal problems, poor speech and motor incoordination. Many children have stunted growth and scoliosis (curvature of the spine). Forty percent of the children are prone to repeated attacks of vomiting. Intelligence is usually normal. Some individuals with FD complete college programs and can be expected to function independently if treatment is started early and major disabilities are avoided.

76. HSAN III / Familial Dysautonomia (Riley-Day Syndrome) disorder name HSAN III / familial dysautonomia (RileyDay syndrome); disorder abbreviation unknown; gene name IKBKAP; gene product IKK complex http://www.muscle.ca/content/index.php?id=671

77. Jan. 26, 2001 MGH Team Identifies Gene That Causes Familial MGH researchers have identified the gene that causes familial dysautonomia (FD), The team has been supported by the Dysautonomia Foundation for 10 years http://www.massgeneral.org/pubaffairs/Issues/012601dysautonomia.htm

January 26, 2001 MGH team identifies gene that causes familial dysautonomia MGH researchers have identified the gene that causes familial dysautonomia (FD), a degenerative neurological disorder found in the Ashkenazi Jewish population, whose ancestors originated in Eastern Europe. One in 30 Ashkenazi Jews carries the FD gene, and approximately one in 3,600 individuals is affected. In FD, the autonomic and sensory nervous systems fail to develop fully, resulting in a host of complications ranging from difficulty in swallowing and feeding (in infants) and problems controlling heart rate and blood pressure. Sixty percent of all infants with FD require tube feedings, and many of those affected are born without taste buds or the ability to produce tears. Despite advances in medical treatment, only about 50 percent of patients live to be 30 years old. The MGH team, under the direction of James F. Gusella, PhD (right) , director of the MGH Molecular Neurogenetics Unit, has shown that mutations in a gene named IKBKAP cause FD. The findings will appear in the March issue of the American Journal of Human Genetics . The immediate result of this discovery will be the ability to do carrier testing in the Jewish population. "While genetic testing for at-risk families has been going on for years, our discovery now will permit anyone in the general Jewish population to have carrier testing," says Gusella. In addition to discovering the mutations that can cause FD, Gusella's team has shown that the expression of the mutant gene in FD patients varies depending on what cell types are examined.

78. Health/Conditions And Diseases/Neurological Disorders/Autonomic Nervous System/F An article about familial dysautonomia and its inheritance patterns. familial dysautonomia, press releases, information on summer camps for kids and http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Neurological_

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... The CaF Directory An article about familial dysautonomia and its inheritance patterns. Also information about a support group for those living in the UK. url: www.cafamily.org.uk/Direct/f17.html Cure-FD Foundation Peruse the latest news on the work being done in finding a cure as well as finding information on Familial Dysautonomia. url: curefd.org Dysautonomia Foundation Familial dysautonomia, press releases, information on summer camps for kids and adults, details about the organization and FD itself. url: www.familialdysautonomia.org Dysautonomia Treatment and Evaluation Center NYU School of Medicine Department of Pediatrics and Department of Neurology offers genetic information and counseling, patient care and staff information. url: www.med.nyu.edu/fd/index.html

79. GeneReviews: Familial Dysautonomia Your browser does not support HTML frames so you must view familial dysautonomia in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/fd/

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80. Gynecological Aspects Of Female Familial Dysautonomia Here you can find the article written by Ziona Haklai, MSc, Shimon Glick, MD and Jochanan Benbassat, MD, which was published in IMAJ. IMAJ 2000; 2; May; http://www.ima.org.il/imaj/sep00-4.htm

Past Issues September 2000, Table of Contents >> Gynecological Aspects Home Page Instruction for authors Search Facilities Subscribing to IMAJ ... Contact Us Gynecological Aspects of Female Familial Dysautonomia C lick here for article written by Channa Maayan, MD, Onit Sela, MD, Felicia Axelrod, MD, D'vorah Kidron, MD and Drorith Hochner-Celnikier, MD. IMAJ 2000; 2; September: 679-683 ddddddddddddddddddddddddddddddddddddddd Abstract Abst

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