41. Swiss-Prot Keyword: Waardenburg Syndrome waardenburg syndrome,WS,waardenburg syndrome Type I (WS1) waardenburg syndrome,WS,waardenburg syndrome Type I (WS1),waardenburg syndrome Type II (WS2),waardenburg syndrome Type IIA (WS2A),waardenburg syndrome Type IIB http://www.expasy.org/cgi-bin/get-entries?KW=Waardenburg syndrome

42. CMGS-Identification Of The Gene For Waardenburg Syndrome /11.2.99 Identification of the gene responsible for waardenburg syndrome (WS). Phenotype. Read AP, Foy C, Newton V Exclusion mapping in waardenburg syndrome. http://www.ich.ucl.ac.uk/cmgs/wardsyn.htm

MRCPath Self-help Course. Birmingham 1998-1999. 11 th February 1999. Identification of the gene responsible for Waardenburg Syndrome (WS). Phenotype. Wide bridge of the nose. Pigmentary disturbance (frontal white blaze or hair, white eye lashes). Cochlear deafness. WS type I (WS1) is distinguished from WS type II (WS2) by dystopia canthorum (abnormal position of the corner of the eye). Inheritance. Autosomal dominant. WS type III, very severe, due to homozygous form of WS1. Mapping Strategies. Positional cloning started to try and map the responsible gene to its correct subchromosomal location. Simpson et al. (1974) and Arias et al. (1975) suggested linkage to the ABO locus at 9q34. This was later excluded by Read et al. (1989) and da-Silva et al. (1990). Read et al. (1989) used polymorphic markers to study human chromosome 12, close to PEPB. PEPB is the human homolog of the mouse Pep-2 locus, mutation of which results in the 'Steel' mouse model of WS1. Read et al. (1989) excluded a large part of 12q as the site of the WS gene. Cytogenetic observations indicated which chromosomal areas to investigate.

43. Waardenburg Syndrome Type II waardenburg syndrome type II. References Tassabehji M, Newton VE, Read A. waardenburg syndrome type 2 caused by mutations in human microphthalmia (MITF) gene. http://www.orpha.net/data/patho/GB/uk-WS2.html

Waardenburg syndrome type II Authors: Dr. Laurence Faivre, Prof. Michel Vekemans Scientific editor: Prof. Didier Lacombe Date of creation: December 1997 Date of last update: May 2003 Name of the disease and synonyms Waardenburg syndrome type II (WS II): type IIA when linked to locus 3p13; type IIB when not linked to this locus Name of excluded diseases Other WS types I and III Waardenburg–Shah syndrome Other neurocristopathies Non-syndromal deafness Diagnostic criteria/Definition WS II is a heterogeneous group of disease that are differentiated from WS I by the absence of dystopia canthorum. The presence of a family history of congenital deafness or pigmentation anomalies is very important for the diagnosis. Differential diagnosis Deafness is the most frequent feature and is more severe than in type I. Heterochromia of the iris is also more common than in type I. Incidence The incidence has not been estimated, but is less frequent than type I. Clinical description Clinical features include: Neurosensory deafness (71% of the patients) Pigmentation anomalies of the eyes (47% of the patients) Other pigmentation anomalies, for example white forelock (29%), premature graying of the hair (27%), irregular depigmentation of the skin (15%)

44. WAARDENBURG SYNDROME : Contact A Family - For Families With Disabled Children: I printer friendly, waardenburg syndrome, waardenburg syndrome (WS) is an inherited condition which may be associated with a range of features. http://www.cafamily.org.uk/Direct/w10.html

printer friendly WAARDENBURG SYNDROME home more about us in your area conditions information ... how you can help search this site Did you find this page helpful? yes no Waardenburg syndrome (WS) is an inherited condition which may be associated with a range of features. The main characteristics of WS include hearing impairment (see Deafness Gut Motility Disorders ) or features including upper limb abnormalities and cleft lip and/or palate . Individuals with WS have a normal lifespan. Researchers have described four main types of WS. A diagnosis of the particular type of WS depends upon detecting the fault in the causative gene. The different types of WS vary in the physical characteristics present. The most common types of WS are Type 1 and Type 2, which are distinguished on the basis of widely spaced eyes. This feature is present in Type 1 and absent in Type 2. However, hearing impairments are more common in Type 2. Type 3 (Klein-Waardenburg syndrome) is rare and is associated with upper limb abnormalities. Type 4 (Waardenburg-Hirschsprung disease), which is also uncommon, is associated with associated with colon problems originating from the time of birth. Inheritance patterns A number of genes have been associated with WS and different genes are associated with the different types of WS. In most cases, WS is inherited as an autosomal dominant trait. The genetics of Waardenburg-Hirschsprung disease is slightly different as this type of WS is inherited as an autosomal recessive trait.

45. Waardenburg Syndrome And Deafness waardenburg syndrome and deafness. I am pregnant with another child whose father s family has a history of waardenburg syndrome and most of them are deaf. http://interact.pregnancytoday.com/cgi-bin/boards/genetic.pl?read=63

46. Re Waardenburg Syndrome And Deafness Genetic Issues Discussion Board. Re waardenburg syndrome and deafness. In Response To waardenburg syndrome and deafness (Angel). Angel,. Check out my webpage http://interact.pregnancytoday.com/cgi-bin/boards/genetic.pl?read=67

47. Conditions And Diseases - Waardenburg Syndrome Top Links waardenburg syndrome Web Site Links. NORD waardenburg syndrome - A general discussion about this disorder, followed by further resources. http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Genetic_Diso

Sub Categories Related Healthcare Subjects Disabilities Environmental Health Fitness Health Insurance ... Men's Health Waardenburg Syndrome Web Site Links Pediatric Database A definition of Waardenburg syndrome followed by the epidemiology, pathogenesis, clinical features, investigations and management. NORD - Waardenburg Syndrome A general discussion about this disorder, followed by further resources. Human Gene Map An article about Waardenburg syndrome and its features, statistics and the gene pax3. National Library of Medicine Offers synonyms, a summary and a list of major features. 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. The UK Health Technology Assessment Programme Site contains details of program's many projects and publications; an NHS national research and development initiative. U.S. Preventive Services Task Force (USPSTF)

48. Genetic Disorders: Waardenburg Syndrome Genetic Disorders waardenburg syndrome. An article about waardenburg syndrome and its features, statistics and the gene pax3. National Library of Medicine. http://www.puredirectory.com/Health/Conditions-and-Diseases/Genetic-Disorders/Wa

Genetic Disorders: Waardenburg Syndrome Home Health Conditions and Diseases Genetic Disorders : Waardenburg Syndrome google_ad_client = 'pub-3272565765518472';google_ad_width = 336;google_ad_height = 280;google_ad_format = '336x280_as';google_color_border = 'FFFFFF';google_color_bg = 'FFFFFF';google_ad_channel ='7485447737';google_alternate_color = 'FFFFFF';google_color_link = '0000FF';google_color_url = '008000';google_color_text = '000000'; Standard Listings Human Gene Map An article about Waardenburg syndrome and its features, statistics and the gene pax3. National Library of Medicine Offers synonyms, a summary and a list of major features. NORD: Waardenburg Syndrome A general discussion about this disorder, followed by further resources. Pediatric Database A definition of Waardenburg syndrome followed by the epidemiology, pathogenesis, clinical features, investigations and management. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor PureDirectory.com uses a modified version of the Open Directory.

49. Disease - Waardenburg Syndrome - Hartford, Connecticut , Saint Francis Care Disease waardenburg syndrome - courtesy of Saint Francis Care of Hartford, Connecticut, contemporary medicine with major clinical concentrations in heart http://www.saintfranciscare.com/14273.cfm

@import url(main.css); About Us Health Information Adam Article Manager CareMail Signup ... Ways To Help Adam Article Manager Back Back to main Health Information page Disease - Waardenburg syndrome Broad nasal bridge Sense of hearing Definition: Waardenburg syndrome is a group of hereditary conditions characterized by deafness and partial albinism (pale skin, hair and eye color). Causes And Risk: Waardenburg syndrome is inherited as an autosomal dominant trait; only one parent has to pass on the gene for a child to be affected. There are four types of this syndrome. (Type 3 is known as Klein-Waardenburg syndrome; Type 4 is Waardenburg-Shah syndrome.) The multiple types of this syndrome result from mutations occurring in different genes. All types share two dominant features: hearing loss and partial albinism. The albinism is incomplete and may appear as a white forelock in an otherwise dark head of hair, very pale light-blue eyes, or two different colored eyes . Affected individuals may also have wide separation of the inner corners of the eyes, a broad nasal bridge, and other color changes of the skin. Waardenburg syndrome affects about 1 in every 30,000 people. Almost 90% of patients have an affected parent but the symptoms in the parent can be quite different from those in the child.

50. Health Library - waardenburg syndrome. Important It is possible that the main title of the report waardenburg syndrome is not the name you expected. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

51. Health Library - waardenburg syndrome. Synonyms General Discussion. waardenburg syndrome is a genetic disorder that may be evident at birth (congenital). The http://12.42.224.152/Library/HealthGuide/IllnessConditions/topic.asp?hwid=nord43

52. Waardenburg Syndrome - Deafness And Communication Disorder Terms And Definitions Definition for waardenburg syndrome and other Deafness and Communication Disorder Terms by Health Dictionary. waardenburg syndrome http://www.health-dictionary.com/deafness_term_details/Waardenburg_Syndrome

AIDS / HIV Alzheimer's Disease Cancer Chronic Fatigue Syndrome ... Surgery Terms Other Resources: Nursing Home Resources Science Dictionary Home Health Care Legal Dictionary ... Doc Loan's Advice document.write(lday + ", " +lmonth + " " + date + ", " + year ) Waardenburg Syndrome: Hereditary disorder that is characterized by hearing impairment, a white shock of hair and/or distinctive blue color to one or both eyes, and wide-set inner corners of the eyes. Balance problems are also associated with some types of waardenburg syndrome. More Deafness and Communication Disorder Terms A B C ... W Information and definitions of the medical conditions and diseases have been taken from various reliable government publications and we have done our best to verify their accuracy. If you feel any of the definitions are incorrect or needs to be updated please contact us and we will look into it. Contact Health Dictionary - Medical and Disease Terms and Definitions 2002-2004. All right are reserved.

53. Health, Conditions And Diseases, Genetic Disorders: Waardenburg Syndrome The waardenburg syndrome (WS) gene affects the body in three primary ways hearing , pigmentation (coloring) of the skin, hair and eyes, and facial structure. http://www.combose.com/Health/Conditions_and_Diseases/Genetic_Disorders/Waardenb

Top Health Conditions and Diseases Genetic Disorders ... Waardenburg Syndrome Related links of interest: Health:Conditions and Diseases:Rare Disorders Human Gene Map - An article about Waardenburg syndrome and its features, statistics and the gene pax3. NORD: Waardenburg Syndrome - A general discussion about this disorder, followed by further resources. National Library of Medicine - Offers synonyms, a summary and a list of major features. Pediatric Database - A definition of Waardenburg syndrome followed by the epidemiology, pathogenesis, clinical features, investigations and management. The Waardenburg syndrome (WS) gene affects the body in three primary ways: hearing , pigmentation (coloring) of the skin, hair and eyes, and facial structure. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor The combose.com directory is based on the Open Directory and has been modified and enhanced using our own technology. About ComboSE Download Combose Toolbar

54. PillSupplier.com - Conditions And Diseases/Genetic Disorders/Waardenburg Syndrom Category waardenburg syndrome. HOME ABOUT Search Login . Conditions and Diseases/Genetic Disorders/waardenburg syndrome. Links http://www.pillsupplier.com/dir/867/

Category: Waardenburg Syndrome HOME ABOUT US ORDER STATUS BMI CALCULATOR ... CONTACT US Prescription Drugs Diet Pills Adipex Bontril Didrex ... Login Conditions and Diseases/Genetic Disorders/Waardenburg Syndrome Links: Human Gene Map [rate it] [review it] An article about Waardenburg syndrome and its features, statistics and the gene pax3. National Library of Medicine [rate it] [review it] Offers synonyms, a summary and a list of major features. NORD - Waardenburg Syndrome [rate it] [review it] A general discussion about this disorder, followed by further resources. Pediatric Database [rate it] [review it] A definition of Waardenburg syndrome followed by the epidemiology, pathogenesis, clinical features, investigations and management. Search Looking for something in particular? the entire directory only this category More search options Pages Updated On: Fri May 28 2004 - 04:40:42 About Us Frequently Asked Questions Contact Us Order Status ... Health Resources

55. Waardenburg Syndrome With Anisocoria And Exotropia. Dastur YK, Dudhani A, Chital waardenburg syndrome with anisocoria and exotropia. Abstract. A case of waardenburg syndrome with unusual features such as anisocoria, exotropia is reported. http://www.jpgmonline.com/article.asp?issn=0022-3859;year=1995;volume=41;issue=4

56. ThirdAge - Adam - Waardenburg Syndrome waardenburg syndrome. waardenburg syndrome is inherited as an autosomal dominant trait; only one parent has to pass on the gene for a child to be affected. http://www.thirdage.com/health/adam/ency/article/001428.htm

Activities Games Health Horoscopes ... Prevention Waardenburg syndrome Definition: Waardenburg syndrome is a group of heritable conditions, which include deafness and partial albinism (pale skin, hair and eye color) as their most important features. Causes, incidence, and risk factors: Waardenburg syndrome is inherited as an autosomal dominant trait; only one parent has to pass on the gene for a child to be affected. There are four types of this syndrome. (Type 3 is known as Klein-Waardenburg syndrome; Type 4 is Waardenburg-Shah syndrome.) The multiple types of this syndrome result from mutations occurring in different genes. All types share two dominant features: hearing loss and partial albinism . The albinism is incomplete and may appear as a white forelock in an otherwise dark head of hair, very pale light blue eyes, or two different colored eyes heterochromia ). Other findings that may be seen include wide separation of the inner corners of the eyes with a broad nasal bridge and other pigmentary changes of the skin. Waardenburg syndrome affects about 1 in 30,000 people. Almost 90% of patients have an affected parent but the manifestations of the condition in the parent can be quite different from those in the child.

57. :: Ez2Find :: Waardenburg Syndrome Guide waardenburg syndrome, Global Metasearch Any Language Guides, waardenburg syndrome. ez2Find Home Directory Health Conditions http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

Guide : Waardenburg Syndrome Global Metasearch Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode All Words Any Word Phrase Results Timeout Depth Adult Filter Add to Favorites Other Search Web News Newsgroups Images Guides Waardenburg Syndrome ez2Find Home Directory Health Conditions and Diseases ... Genetic Disorders : Waardenburg Syndrome Related Categories Health: Conditions and Diseases: Rare Disorders Web Sites Human Gene Map [Site Info] [Translate] [Open New Window] An article about Waardenburg syndrome and its features, statistics and the gene pax3. URL: http://www.ncbi.nlm.nih.gov/cgi-bin/SCIENCE96/gene?PAX3 National Library of Medicine [Site Info] [Translate] [Open New Window] Offers synonyms, a summary and a list of major features. NORD: Waardenburg Syndrome [Site Info] [Translate] [Open New Window] A general discussion about this disorder, followed by further resources.

58. Waardenburg Syndrome The New Health Directory, Directory, Home Health Conditions and Diseases Genetic Disorders waardenburg syndrome (4) See Also http://www.thenewhealthfind.com/Health/ConditionsandDiseases/GeneticDisorders/Wa

Directory Home Health Conditions and Diseases Genetic Disorders : Waardenburg Syndrome (4) See Also: Health: Conditions and Diseases: Rare Disorders Pediatric Database - A definition of Waardenburg syndrome followed by the epidemiology, pathogenesis, clinical features, investigations and management. NORD - Waardenburg Syndrome - A general discussion about this disorder, followed by further resources. Human Gene Map - An article about Waardenburg syndrome and its features, statistics and the gene pax3. National Library of Medicine - Offers synonyms, a summary and a list of major features. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Quick Links clomid buy trazodone cva diabetes ... surevue contact lenses The New Health Directory Site Map Privacy Contact Advertise ... Health Directory

59. Klein Waardenburg Syndrome : On Medical Dictionary Online Klein waardenburg syndrome defined on the Free Online Medical Dictionary. Link to the Medical Dictionary Online. Klein waardenburg syndrome. http://www.online-medical-dictionary.org/?q=Klein Waardenburg Syndrome

60. Waardenburg Syndrome : On Medical Dictionary Online waardenburg syndrome defined on the Free Online Medical Dictionary. Medical Link to the Medical Dictionary Online. waardenburg syndrome. Rare http://www.online-medical-dictionary.org/?q=Waardenburg Syndrome

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