41. Waardenburg Syndrome Genetic Diseases Ear. waardenburg syndrome. waardenburg syndrome unusualpigmentation. waardenburg syndrome What is waardenburg syndrome? http://jhhs.client.web-health.com/web-health/topics/GeneralHealth/generalhealths

42. What Is Waardenburg Syndrome? waardenburg syndrome. What is waardenburg syndrome? One commonly observed characteristicof waardenburg syndrome is two differently colored eyes. http://www.tjclarkdirect.com/d_waardenburg_syndrome.htm

Waardenburg Syndrome What is Waardenburg Syndrome? Waardenburg syndrome (WS) is an inherited disorder often characterized by varying degrees of hearing loss and changes in skin and hair pigmentation. The syndrome got its name from a Dutch eye doctor named Petrus Johannes Waardenburg who first noticed that people with differently colored eyes often had a hearing impairment. He went on to study over a thousand individuals in deaf families and found that some of them had certain physical characteristics in common. One commonly observed characteristic of Waardenburg syndrome is two differently colored eyes. One eye is usually brown and the other blue. Sometimes, one eye has two different colors. Other individuals with Waardenburg syndrome may have unusually brilliant blue eyes. People with WS may also have distinctive hair coloring, such as a patch of white hair or premature gray hair as early as age 12. Other possible physical features include a wide space between the inner corners of eyes called a broad nasal root. In addition persons with WS may have low frontal hairline and their eyebrows may connect. The levels of hearing loss associated with the syndrome can vary from moderate to profound.

43. Health Library - Waardenburg Syndrome FREE. waardenburg syndrome. Synonyms time. waardenburg syndrome is agenetic disorder that may be evident at birth (congenital). The http://hvlib.integris-health.com/Library/HealthGuide/IllnessConditions/topic.asp

44. PAX3 CM950898, 45, tTTTCTT, Phe-Leu, waardenburg syndrome, 1. CM930568, 47, cAAC-CAC,Asn-His, waardenburg syndrome, 2. CM961089, 48, cGGC-CGC, Gly-Arg, waardenburg syndrome,4. http://www.uwcm.ac.uk/uwcm/mg/ns/1/120495.html

Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference tTTT-CTT Phe-Leu Waardenburg syndrome cAAC-CAC Asn-His Waardenburg syndrome AACg-AAG Asn-Lys Craniofacial-deafness-hand syndrome cGGC-CGC Gly-Arg Waardenburg syndrome CCG-CTG Pro-Leu Waardenburg syndrome CGC-CTC Arg-Leu Waardenburg syndrome ATC-AAC Ile-Asn Waardenburg syndrome gATC-TTC Ile-Phe Waardenburg syndrome gATG-GTG Met-Val Waardenburg syndrome cCAG-TAG Gln-Term Waardenburg syndrome cGTG-ATG Val-Met Waardenburg syndrome GGC-GCC Gly-Ala Waardenburg syndrome TCC-TTC Ser-Phe Waardenburg syndrome GGT-GAT Gly-Asp Waardenburg syndrome aGCC-ACC Ala-Thr Waardenburg syndrome tGAA-TAA Glu-Term Waardenburg syndrome cCGA-TGA Arg-Term Waardenburg syndrome gGAA-TAA Glu-Term Waardenburg syndrome cCAG-TAG Gln-Term Waardenburg syndrome TGGt-TGC Trp-Cys Waardenburg syndrome cCGC-TGC Arg-Cys Waardenburg syndrome cCGT-TGT Arg-Cys Waardenburg syndrome CGT-CAT Arg-His Waardenburg syndrome TGG-TAG Trp-Term Waardenburg syndrome tCAA-TAA Gln-Term Waardenburg syndrome CAGg-CAC Gln-His Waardenburg syndrome References 1 - Tassabehji (1995) Hum Mol Genet 2 - Hoth (1993) Am J Hum Genet ... J Med Genet HGMD

45. PAX3 CD962121, 56, CCACATC^CGCcACAAGATCGT, waardenburg syndrome, 1. CD920899,61, ATCGTG^GAGAtggcccaccacggcatccGGCCCTGCGT, waardenburg syndrome, 2. http://www.uwcm.ac.uk/uwcm/mg/ns/4/120495.html

Small deletions Accession Number Location/ codon Deletion Phenotype Reference CCACATC^CGCcACAAGATCGT Waardenburg syndrome ATCGTG^GAGAtggcccaccacggcatccGGCCCTGCGT Waardenburg syndrome GAGATG^GCCCaccacggcatccggcccTGCGTCATCT Waardenburg syndrome ATCCTG^TGCAggtaccaggagactGGCTCCATAC Waardenburg syndrome CTGGC^TCCATaCGTCCTGGTG Waardenburg syndrome GAAAATT^GAGgAATACAAAAG Waardenburg syndrome TGAGGAA^TACaaaagAGAGAACCCG Waardenburg syndrome CCCGGGC^ATGttcagctgggaaaTCCGAGACAA Waardenburg syndrome III AAGGCC^AAACacAGCATCGACG Waardenburg syndrome CTCAGCA^CCCcaatcAGATGAAGGC Waardenburg syndrome GCCAACG^TACcAGCTGTCGGA Waardenburg syndrome References 1 - Pandya (1996) Hum Mol Genet 2 - Tassabehji (1992) Nature ... J Med Genet HGMD

46. Congenital, Hereditary, And Neonatal Diseases And Abnormalities Comprehensive list of links from Karolinska Institutet, Sweden.Category Health Nursing Specialties Neonatal...... About Usher Syndrome TARP, TX (US). Waardenburg's Syndrome Aboutwaardenburg syndrome - Boystown Hospital; The PAX3 Gene (Chromosome http://www.mic.ki.se/Diseases/c16.html

search help staff Congenital, Hereditary, and Neonatal Diseases and Abnormalities (including Pediatrics) Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Alphabetical List of Diseases Search PubMed at NCBI/NLM The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping P Murphy Human Disease Maps J Frezal ] - GENATLAS (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com Prenatal Diagnosis GR DeVore ] - Fetal.Com Prenatal Diagnosis [images; EC Klatt PEDIATRICS Harriet Lane WWW Links ('Pediatric Points of Interest') CU Lehmann ] - Johns Hopkins U. Child and Teen Health Topics - Medline Plus , NLM(US) Acute Pediatric Care - Univ of Minnesota (US) Children's Hospital Handbook, 1999

47. Qango : Health: Diseases And Conditions: W: Waardenburg Syndrome category Options Help. Home Health Diseases and Conditions W waardenburg syndrome, Suggest a Site. Health, etc. If you would http://www.qango.com/dir/Health/Diseases_and_Conditions/W/Waardenburg_Syndrome/

Chat Forums Free Email Personals Classifieds ... Help Qango Directory Waardenburg Syndrome all of Qango only this category Options Help Home Health ... W > Waardenburg Syndrome Suggest a Site Health, etc If you would like to suggest a site for this category please click here Home Health Diseases and Conditions ... W > Waardenburg Syndrome Suggest a Site Home Suggest a Site Search ... Login

48. Waardenburg Syndrome waardenburg syndrome. A hereditary disorder occurring in 14,000 livebirths, Waardenburg is characterized by facial abnormalities http://www.forwardface.org/misc_text/conditions/waarden.htm

Waardenburg Syndrome A hereditary disorder occurring in 1:4,000 live births, Waardenburg is characterized by facial abnormalities, Waardenburg syndrome is typified by congenital deafness, abnormal eye, skin and/or hair pigmentation, displacement of the inner folds of the eyelid, prominent nose and over development of eyebrows. Children with Waardenburg may have two different colored eyes or two colors in one eye and premature graying of their hair.

49. Waardenburg Syndrome Meddie Health Search ITEMS LINKS Human Gene Map An article about waardenburg syndromeand its features, statistics and the gene pax3. (Rating 0.00 http://www.meddie.com/search/Health/Conditions_and_Diseases/Genetic_Disorders/Wa

50. Faculty > Jeff Milunsky Identify waardenburg syndrome type II Loci in Man. Several different typesof waardenburg syndrome exist, each with different associations. http://www.bu.edu/genome/people/faculty/milunsky.htm

@import url(../../gg.css); Jeff Milunsky, M.D., F.A.C.M.G. Associate Professor of Pediatrics Associate Director, Center for Human Genetics Director of Clinical Genetics Associate Director, Molecular Genetics Center for Human Genetics M.D., magna cum laude, 1992, Boston University School of Medicine F.A.C.M.G., 2002, Fellow of American College of Medical Genetics Assistant, Andrea FitzGerald jmilunsk@bu.edu Genetics of Human Deafness Identify Waardenburg Syndrome type II Loci in Man Early Hearing Detection and Integration In a Center for Disease Control sponsored national program, we are one of the selected sites conducting molecular analyses in children with hearing loss. Our analyses are currently focused on the Connexin-26 gene and several mitochondrial gene mutations. The results are being correlated with the thorough audiological assessment conducted on these individuals publications Wang Z, Milunsky JM , Yamin M, Maher T, Oates R, Milunsky, A. Analysis of 100 cystic fibrosis gene mutations in 92 patients with congenital bilateral absence of the vas deferens by Mass Spectrometry. Human Reproduction (In Press). Milunsky JM , Maher, TA, Metzenberg, AB. Molecular, Biochemical, and Phenotypic Analysis of a Hemizygous Male With Non-mosaic X-Linked Dominant Conradi-Hunermann-Happle Syndrome (CDPX2). Am J Med Genet (In Press).

51. Medical Dictionary Online : Waardenburg Syndrome waardenburg syndrome on the Free Online Medical Dictionary. Medical Linkto the Medical Dictionary Online. waardenburg syndrome. Rare http://www.online-medical-dictionary.org/medical-dictionary-w/Waardenburg-Syndro

Medical Dictionary Online a free online medical dictionary search engine for definitions of medical terminology, pharmaceutical drugs, healthcare equipment, health conditions, medical devices, specialty terms and medical abbreviations. A B C D ... Link to the Medical Dictionary Online Waardenburg Syndrome Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. Contact us with questions, suggestions or general feedback Link to the Medical Dictionary Online

52. Waardenburg Syndrome waardenburg syndrome. History. Sometimes it's referred to as WaardenburgKlein syndrome,with subtypes, or auditory-pigmentation syndromes (Boystown, 1999). Home. http://web.nmsu.edu/~lleeper/pages/Wardnbg/history.html

Waardenburg Syndrome History In 1951, a Dutch opthalmolgist by the name of Petrus Johannes Waardenburg was the first to publish a paper on individuals with eyes of different coloration and hearing loss. The syndrome has been named after Waardenburg as well as another scientist named Klein. Sometimes it's referred to as Waardenburg-Klein syndrome, with subtypes, or auditory-pigmentation syndromes (Boystown, 1999). Home

53. Waardenburg Syndrome waardenburg syndrome by Anna M. Montoya. History, Cause, Types and Incidence Prevalence. Evaluation Treatment of Communication Disorders, http://web.nmsu.edu/~lleeper/pages/Wardnbg/

Waardenburg Syndrome by Anna M. Montoya History Cause Types and ... Bibliography

54. Syndrome De Waardenburg De Type III Translate this page Upper limb involment in the Klein-waardenburg syndrome. Sheffer R, ZoltogoraJ. Autosomal dominant inheritance of Klein-waardenburg syndrome. http://orphanet.infobiogen.fr/data/patho/FR/fr-waard3.html

Syndrome de Waardenburg de type III Auteurs : Docteur Laurence FAIVRE, Professeur Michel VEKEMANS Editeur : Professeur Didier LACOMBE septembre 2001 Nom de la maladie et synonymes Nom des maladies exclues Syndrome de Waardenburg de type I, de type II, Autres neurocristopathies Incidence Description clinique Modes de prise en charge incluant les traitements Etiologie Il est possible si la mutation de La mutation de Goodman RM, Lewithal I, Solomon A, et al. Upper limb involment in the Klein-Waardenburg syndrome. Am J Med Genet 1982; 11: 425-433. Sheffer R, Zoltogora J. Autosomal dominant inheritance of Klein-Waardenburg syndrome. Hum Molec Genet 1992; 42: 320-322. Pasteris NG, Trask B, Sheldon S, et al. A chromosome deletion 2q35-36 spanning loci HuP2 and COL4A3 results in Waardenburg syndrome type III (Klein-Waardenburg syndrome) (Abstract). Am J Med Genet 1992; 51(suppl): A224. Hoth CF, Milunsky A, Lipsky N, et al. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am J Med Genet 1993; 52: 455-462. Tassabehji M, Newton VE, Lui XZ, et al.

55. Syndrome De Waardenburg De Type I Translate this page Assignment of the locus for waardenburg syndrome type I to human chromosome2q37 and possible homology to the splotch mouse. waardenburg syndrome. http://orphanet.infobiogen.fr/data/patho/FR/fr-waard1.html

Syndrome de Waardenburg de type I Auteurs : Docteur Laurence FAIVRE, Professeur Michel VEKEMANS Editeur : Professeur Didier LACOMBE septembre 2001 Nom de la maladie et synonymes Syndrome de Waardenburg de type I (WS I). Nom des maladies exclues Incidence Elle est de 1/270 000 naissances pour l'ensemble des syndromes de Waardenburg. Description clinique - un synophris - une hypoplasie des ailes du nez - un spina bifida - une anomalie de la fonction vestibulaire - une implantation basse des cheveux. Modes de prise en charge incluant les traitements Etiologie MITF , et que MITF MITF pour l'activation de MITF Une cinquantaine de mutations dans le gene Le diagnostic biologique repose sur la recherche de mutations de W=X+Y+a/b avec X=(2a-0,2119c-3,909)/c et Y=(2a-0,2479b-3,909)/b. a est la distance intercanthale interne b est la distance interpupillaire c est la distance intercanthale externe. Pax-3 Pax-3 Foy C, Newton V, Wellesley, et al. Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the splotch mouse. Am J Hum Genet 1990; 46: 1017-1023. Farrer LA, Grundfast KM, Amos J, et al.

56. What Is Waardenburg Syndrome? waardenburg syndrome. What is waardenburg syndrome? One commonly observed characteristicof waardenburg syndrome is two differently colored eyes. http://www.vitamins-minerals.tv/Diseases/d_waardenburg_syndrome.htm

Was Tom Clark’s discovery of the Sacred Spring a miracle or a chance encounter? Click here to hear the radio drama based on the actual events. The approximate play time is 1 hour and 34 minutes Click Here To Protect the Security and Privacy of your Internet Searches, It's Free, It's Easy Waardenburg Syndrome What is Waardenburg Syndrome? Waardenburg syndrome (WS) is an inherited disorder often characterized by varying degrees of hearing loss and changes in skin and hair pigmentation. The syndrome got its name from a Dutch eye doctor named Petrus Johannes Waardenburg who first noticed that people with differently colored eyes often had a hearing impairment. He went on to study over a thousand individuals in deaf families and found that some of them had certain physical characteristics in common. One commonly observed characteristic of Waardenburg syndrome is two differently colored eyes. One eye is usually brown and the other blue. Sometimes, one eye has two different colors. Other individuals with Waardenburg syndrome may have unusually brilliant blue eyes.

57. Waardenburg Syndrome waardenburg syndrome. waardenburg syndrome like any disease comes about asa malfunction of one or more of your bodies systems. waardenburg syndrome. http://www.vitamins-minerals.tv/health_100/tjclarkinc/d_waardenburg_syndrome.htm

Home Products Facilities History ... Click Here To Protect the Security and Privacy of your Internet Searches, It's Free, It's Easy Waardenburg Syndrome Waardenburg Syndrome like any disease comes about as a malfunction of one or more of your bodies systems. Much if not most of the time this is a result of a slow degenerative process due to the lack of adequate bodily supplies of the elements necessary for normal function and rejuvenation of affected organs. Commercial Farming and natural erosion has depleted global farmlands of most essential elements therefore it is not wise to assume that your diet contains enough of these elements for normal body function and maintenance. See Senate Document 264. It is also unwise to suspect that intervention therapies will be successful without adequate dietary levels of these elements in useable forms.

58. JAX®Mice Database - Mouse/Human Gene Homologs: Waardenburg Syndrome, Type I JAX®MICE Database Mouse/Human Gene Homologswaardenburg syndrome, type I List. http://jaxmice.jax.org/jaxmicedb/html/model_1046.shtml

Mice Orders Services Strain Information Research Models ... E-Mail Alerts Search Criteria: Area is "Mouse/Human Gene Homologs: Waardenburg syndrome, type I" Stock Number Strain Name (link to Data Sheet) Strain Type Standard Supply Sp .Cg- N Level 5 Cryopreserved. See Options 1, 2 and 3 listed in Supply Note field on data sheet. Sp-d Level 4: Up to 3 breeder pairs or 6 individual mice per order total; 1 order at a time. Expected delivery for most strains is 1 to 3 months. Call to inquire about ordering greater quantities. Sp Level 4: Up to 3 breeder pairs or 6 individual mice per order total; 1 order at a time. Expected delivery for most strains is 1 to 3 months. Call to inquire about ordering greater quantities. STOCK Sp Mlph ln Level 5 Cryopreserved. See Options 1, 2 and 3 listed in Supply Note field on data sheet. (4 stocks) Back to Top Research Research Resources Mouse Genome Informatics ... The Jackson Laboratory

59. JAX®Mice Database - Mouse/Human Gene Homologs: Waardenburg Syndrome, Type IIA JAX®MICE Database Mouse/Human Gene Homologswaardenburg syndrome, type IIA List. http://jaxmice.jax.org/jaxmicedb/html/model_1047.shtml

Mice Orders Services Strain Information Research Models ... E-Mail Alerts Search Criteria: Area is "Mouse/Human Gene Homologs: Waardenburg syndrome, type IIA" Stock Number Strain Name (link to Data Sheet) Strain Type Standard Supply B6.Cg- Mitf Mi-wh Level 5 Cryopreserved. See Options 1, 2 and 3 listed in Supply Note field on data sheet. B6.Cg- Mitf Mi-wh Mitf ... Mi Level 5 Cryopreserved. See Options 1, 2 and 3 listed in Supply Note field on data sheet. B6.Cg- Mitf Mi-wh Mitf ... mi-rw Level 5 Cryopreserved. See Options 1, 2 and 3 listed in Supply Note field on data sheet. B6.Cg- Mitf Mi-wh Mitf ... mi-sp Level 5 Cryopreserved. See Options 1, 2 and 3 listed in Supply Note field on data sheet. B6By.Cg- Kit W-v Mitf ... T Level 5 Cryopreserved. See Options 1, 2 and 3 listed in Supply Note field on data sheet. a a Mitf Mi Level 4: Up to 3 breeder pairs or 6 individual mice per order total; 1 order at a time. Expected delivery for most strains is 1 to 3 months. Call to inquire about ordering greater quantities. Mitf mi-rw Level 5 Cryopreserved. See Options 1, 2 and 3 listed in Supply Note field on data sheet. Mitf mi-bws Level 5 Cryopreserved. See Options 1, 2 and 3 listed in Supply Note field on data sheet.

60. Waardenburg Syndrome Please visit our Sponsors. waardenburg syndrome. NORD waardenburg syndrome;Syndromic Hearing Loss; waardenburg syndrome; waardenburg syndromes http://www.cannylink.com/diseasewaardenburgsyndrome.htm

Search mode: "AND" "OR" Waardenburg Syndrome NORD - Waardenburg Syndrome Syndromic Hearing Loss Waardenburg Syndrome Waardenburg Syndromes Back to The Cannylink home page You can e-mail us at Webmaster@cannylink

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