41. Top Health Conditions And Diseases T Takatsuki Syndrome Talipes Tangier Disease TaySachs Disease Temporal LobectomyBehavior Syndrome Tendonitis teschler-nicola syndrome Testicular Cancer http://www.freeseek.org/Health/Conditions_and_Diseases/T

Top Health Conditions and Diseases T Categories TAR Syndrome TMJ - TMD Tabes Dorsalis Takatsuki Syndrome ... Tyrosinemia

42. Startplane /Health/Conditions_and_Diseases/T Tangier Disease@; TaySachs Disease@; Temporal Lobectomy BehaviorSyndrome@; Tendonitis@; teschler-nicola syndrome@; Testicular Cancer http://www.startplane.com/Health/Conditions_and_Diseases/T

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44. Pallister-Killian Syndrome can also be found with the following Synonyms Chromosome 12, Isochromosome 12pMosaic Killian Syndrome Killian/teschlernicola syndrome Pallister Mosaic http://www.duennaportal.co.uk/knowledgebase/articles/178.html

45. Listing imperfecta Oxalosis hyperoxaluria PallisterHall syndrome Pallister-Killiansyndrome (tetrasomy 12p, teschler-nicola syndrome) Periodic Paralysis http://www.windham.k12.me.us/teachers/basselin/Projects/Listing.htm

Genetic/ Rare Conditions Medical Genetics, University of Kansas Medical Center A listing of genetic conditions or birth defects for professionals, educators, and individuals. Revised January 6, 2000 Aarskog syndrome Achromatopsia Acoustic neuroma (and benign cranial nerve tumors) Adrenal hyperplasia Adrenoleukodystrophy Agenesis of corpus callosum Aicardi syndrome Alagille syndrome Alopecia areata Alstrom syndrome Alpha-1-antitrypsin deficiency Ambiguous genitalia Androgen insensitivity syndrome(s) Anorchia Angelman syndrome Anopthalmia Apert syndrome Arthrogryposis (amyoplasia) Ataxia (Friedreich ataxia, other hereditary ataxias, ataxia telangiectasia, essential tremor, spastic paraplegia) Autism Bardet-Biedl syndrome Basal cell carcinoma (Gorlin syndrome) Batten disease (neuronal ceroid lipofuscinosis) Beckwith-Wiedemann syndrome Blepharophimosis Blind Branchio-Oto-Renal (BOR) syndrome Canavan Cancer: (ataxia telangiectasia, basal cell nevus, brain /spine, breast, colon / bowel, leukemia /

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48. Verzeichnis - Language: Englisch - Health - Conditions And Diseases - T - Verzei Talipes Tangier Disease Tapeworms TAR Syndrome TaySachs Disease Temporal LobectomyBehavior Syndrome Tendonitis teschler-nicola syndrome Testicular Cancer http://webkatalog.freenet.de/freenet_page_ccd2ac9c38cee5ede0486f9a8643f3ae.html

You are here: home verzeichnis language englisch ... conditions and diseases T Verzeichnissuche document.write (''); This categorie in other languages document.write (''); T CATEGORIES Tabes Dorsalis Takatsuki Syndrome Talipes Tangier Disease ... Tyrosinemia This site is based on the Open Directory Project (ODP) Last update: 18. Mar. 2004, 14:16:39 o'clock This categorie needs an Editor. Help build the largest human-edited directory of the web: Become an Editor Themen: Auto Erotik ... Wissenschaft Dienste: Chat Domain Forum Homepage ... Sitemap Weitere Angebote der freenet.de AG: aktiencheck.de dino-online.de filepilot.de fondscheck.de ... 4netplayers.de

49. M. Teschler-Nicola (www.whonamedit.com) M. teschlernicola. Associated eponyms Pallister's mosaicism syndrome. A multiple anomaly/mental retardation Elisabeth Ruttkay and M. teschler-nicola Zwei Gräber der Badener-Kultur http://www.whonamedit.com/doctor.cfm/481.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. M. Teschler-Nicola Associated eponyms: Pallister's mosaicism syndrome A multiple anomaly/mental retardation syndrome. Biography: Bibliography: Elisabeth Ruttkay and M. Teschler-Nicola: Zwei Gräber der Badener-Kultur aus dem Verwaltungsbezirk St. Pölten, Niederösterreich. Annalen des Naturhistorischen Museums Wien 1984, 86, Serie A, 71-87. Zwei Lengyel-Gräber aus Niederösterreich. Annalen des Naturhistorischen Museums Wien 1985, 87, Serie A: 211-235. O.H. Urban, M. Teschler-Nicola, M. Schultz: Die latènezeitlichen Gräberfelder von Katzelsdorf und Guntramsdorf. Archaelogica Austriaca 1985, 69.

50. Pallister-Killian Mosaic Syndrome - Description teschler-nicola; Sindrome a Mosaicodi Pallister; To contact us / per contattarci andrea@pk-syndrome.org. http://www.pk-syndrome.org/pks_desc_i.htm

Sindrome di Pallister-Killian DESCRZIONE La sindrome di Pallister-Killian può assumere anche i seguenti sinonimi: Chromosome 12, Isochromosome 12p Mosaic Sindrome di Killian Sindrome di Killian/Teschler-Nicola Sindrome a Mosaico di Pallister Tetrasomia 12p Per altri sinonimi ci si riferisca alle pagine in Inglese su questo stesso sito Citando il NORD (National Organization for Rare Disorders) ed il PedBase (Pediatric Database): la sindrome a Mosaico di Pallister-Killian è una rara anomalia cromosomica di cui non si conosce ancora la causa. SINTOMI: I sintomi principali possono comprendere un viso rozzo con una fronte alta, capelli radi, ampia distanza tra gli occhi, una piega della pelle agli angoli degli occhi, un ampio ponte nasale, un'ampia arcata del palato, ritardo mentale, scarso tono muscolare (ipotonia), striature di pigmentazione alterata sulla pelle, strabismo, ipoacusia, convulsioni (in particolare alla nascita), contrattura delle articolazioni, ritardi cognitivi. Sono stati anche riscontrati casi di ernia del diaframma, difetti congeniti al cuore ed ai polmoni. CAUSE: La sindrome di Pallister-Killian è causata dalla tetrasomia del cromosoma 12p. Sono stati riscontrati quattro copie del braccio corto del cromosoma 12 invece delle normali due. Tutti i casi riscontrati sono stati ritenuti "Sporadici", ovvero non si ritiene ci sia ereditarietà.

51. TheFetus.net - Pallister Killian Syndrome -Fabrice Cuillier, M. Deshayes, J.F. C hypoplasia can be found. Synonyms Pallister Killian syndrome, tetrasomy12 p, teschlernicola/Killian syndrome. Case report A 37 http://www.thefetus.net/page.php?id=1162

52. Chromosome 12p Tetrasomy Syndrome Pallister mosaic syndrome. PallisterKillian syndrome. teschler-nicola and Killiansyndrome. 12p mosaic tetrasomy. 12p tetrasomy. isochromosome 12p syndrome. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome166.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome chromosome 12p tetrasomy syndrome Synonyms Killian syndrome Pallister mosaic aneuploidy Pallister mosaic syndrome Pallister-Killian syndrome Teschler-Nicola and Killian syndrome 12p mosaic tetrasomy 12p tetrasomy isochromosome 12p syndrome mosaic tetrasomy 12p tetrasomy 12p Summary Tetrasomy of the short arm of chromosome 12 associated with craniofacial abnormalities with coarse facies, growth and mental deficiency, slow growing hair, and other abnormalities. The adult phenotype is marked mainly by epilepsy, macroglossia, coarse facies, and severe mental retardation. Major Features Head and neck: High forehead and micrognathia. Ears: Malformed. Eyes: Strabismus, blepharoptosis, hypertelorism, and sparse eyebrows and eyelashes. Nose: Short nose with flat bridge, anteverted nostrils, epicanthal folds, and long philtrum. Mouth and oral structures: Downturned mouth, cupid-bow thin upper lip, protruding lower lip, macrostomia, and macroglossia. Dentition is usually delayed. Neck: Short neck. Short and webbed neck.

53. Syndrome DB - Table Of Contents involvement Taybi syndrome Teebi syndrome telecanthushypospadias syndrome ter Haarsyndrome teschler-nicola and Killian syndrome testicular feminization (TFM http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_t.html

Multiple Congenital Anomaly/Mental Retardation Syndromes Table of Contents Return to Entry Page A B C ... Z T t(Y;18) syndrome Tariverdian syndrome Tay syndrome Tay-Sachs disease with visceral involvement ... U.S. National Library of Medicine , 8600 Rockville Pike, Bethesda, MD 20894 National Institutes of Health Privacy Accessibility Last updated: 20 November 2001

54. Chromosome 12p Tetrasomy Syndrome Information Diseases Database Chromosome 12p tetrasomy syndrome aka/or Pallister mosaic aneuploidyaka/or teschlernicola and Killian syndrome aka/or Tetrasomy 12p http://www.diseasesdatabase.com/ddb32521.htm

Diseases Database Index Sponsors Contact ... Previous Page Chromosome 12p tetrasomy syndrome Information Search 4 synonyms or equivalents were found. Chromosome 12p tetrasomy syndrome aka/or Pallister mosaic aneuploidy aka/or Teschler-Nicola and Killian syndrome aka/or Tetrasomy 12p may cause or feature (Follow link for list) belong(s) to the category of (Follow link for list) Chromosome 12p tetrasomy syndrome: Definition(s) via UMLS Code translations and terms via UMLS Chromosome 12p tetrasomy syndrome: specific sites Send Chromosome 12p tetrasomy syndrome to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-03 04:26:27 Metadata Updated 2004-05-22

55. Disease, Medication, Symptom Etc Database Index : T Diseases Database see Retrolental fibroplasia Terson syndrome see Terson s syndrome Terson s syndromeTertiary syphilis teschlernicola and Killian syndrome see Chromosome 12p http://www.diseasesdatabase.com/disease_index_t.asp

Diseases Database Index Sponsors Contact ... Previous Page Disease, medication, symptom etc database index : T Search T wave inversion T waves flat T waves tall T/NK cell lymphoma see Nasal type natural killer/T-cell lymphoma see Triiodothyronine Tabes dorsalis Tacalcitol Tacrine ... Tadalafil Taenia species see Teniasis Tafenoquine Tailor's bunion Takahara's disease see Acatalasia Takayasu's arteritis Talampicillin Talipes Talipes planus see Pes planus Talipes, planus acquired see Pes planus, acquired Tall P wave see P wave amplitude increased Tall R wave in V1 see Dominant R wave in V1 Tall stature Tamoxifen Tampon ... Tamsulosin Tangier disease see Familial alphalipoprotein deficiency Tapetochoroidal dystrophy Tapetoretinal degeneration see Retinitis pigmentosa Tapeworm see Teniasis TAR syndrome see Radial aplasia-thrombocytopenia syndrome Tardive dyskinesia Target cells see Leptocytes Tarlov cyst Tarsal coalition Tarsal cyst see Hordeleum internum Tarsal tunnel syndrome Tarsitis see Blepharitis Tart cell see LE cell Tartrazine Tarui disease see Glycogenosis type 7 Tasosartan Taste disturbance Tatlockia micdadei see Pittsburgh pneumonia TATT see Fatigue Tattoo Taurodontism Taussig-Bing anomaly ... Taxanes Taxol see Paclitaxel Tay syndrome see Tricho-thiodystrophy Taybi-Linder syndrome Tay-Sachs disease Tay-Sachs disease, AB variant

56. Index - A To Z Âå¾Ç¹Ï®ÑÀ] - °ê»Ú«p¥Í°·±d¶é°Ï - 24Drs.com Terminal 7p Monosomy, Included nord Terminal 8p syndrome (8p21 to 8p23-pter),Included nord teschler-nicola/Killian syndrome nord Testicular Biopsy http://www.24drs.com/Health_Guide/health.asp?who=4115.21633

57. Sindrome Pallister-killian Translate this page Hall, BD teschler-nicola/Killian syndrome A sporadic case in na11 year old male. J. Clin. Dismorph., I (3)1, 1983. Schroer, RJ http://www.nicholas.yemal.nom.br/sindrome/sindrome.htm

Síndrome de Pallister-Killian - PKS Teschler Nicola e Killian descreveram uma paciente com 3 anos de idade com esse distúrbio, em 1981. Um segundo caso foi relatado por Schroer e Stevenson, em 1983. Subsequentemente foi reconhecido que dois adultos com um fenótipo similar e mosaicismo para um cromossomo marcados descrito por Pallister et al., em 1976, apresentavam a mesma condição. Recentemente, a tetrassomia 12p, seja em mosaico ou total, foi documentada em fibroblastos da pele de indivíduos afetados, mas não no sangue periférico. ANORMALIDADES Crescimento . Estatura, peso e circunferência cefálica normais ou aumentados ao nascimento com desaceleração do crescimento pós-natal da estatura e da circunferência cefálica, Frequentemente há o desenvolvimento de obesidade. Desempenho . Deficiência mental profunda com desenvolvimento mínimo da linguagem. Convulsões. Hipotononia com desenvolvimento de contraturas com o avançar da idade. Surdez. Craniofaciais . Cabelos esparsos na região anterior, sobretudo nas regiões temporais na infância, com sombrancelhas e cílios ralos. Fronte proeminente. A face se torna mais grosseira no decorrer do tempo. Fissuras palpebrais direcionadas para cima. Hipertelorismo ocular. Ptose palpebral. Estrabismo. Epicanto. Base nasal larga e achatada e nariz curto com narinas antevertidas. bochechas rechonchudas. Filtro longo com lábio superior fino e formato de "arco de cupido". Lábio inferior protruso. Erupção dentária retardada. Orelhas largas com lóbulos espessos protrusos. Pescoço curto.

58. Malattie Rare E Genetiche Lettera "T" Translate this page Teratome dandy walker hernie diaphragmatique••{} * teschler-nicola e KillianSindrome di •teschler-nicola and Killian syndrome••Teschler Nicola http://fmfpc.altervista.org/T.htm

newwindow=window.open('quartoanno.htm', '', 'width=230,height=255,scrollbars=no') window.opener=self HOME FORUM Site Map / Mappa del sito FMFPC's International Guest/Book ... E-mail ultimi aggiornamenti Elenco malattie rare e genetiche "lettera T" © FMFPC è un sito ideato, realizzato ed aggiornato da un malato di FMF (Febbre Mediterranea Familiare) © FMFPC is a site conceived, realized and updated by a patient of FMF (Familial Mediterranean Fever) aggiornato 25 novembre, 2002 Cerca nel menu aree FMFPC AREE FMFPC Malattie Rare Febbre Mediterranea Familiare Laboratori Diagnosi Genetica Associazioni Malati Disabilità/Handicap Categorie Medicina (Directory) Ricerche WEB (Medicina) FMFPC è partner AidWeb.org Cerca nel sito / Search in this site I contatti fino ad oggi possibili con FMFPC: Cerca in questa pagina / Search in this page con i tasti / with the keys Ctrl+F A B C D ... S - T - U V W X ... legenda T Tabatznik Sindrome di Heart-hand Syndrome[Holt-Oram Syndrome/HOS/Atriodigital Dysplasia] Tabatznik syndrome de[Cardiopathie anomalie des membres type 2] Tachiaritmia atriale con intervallo PR corto ... Tajara pinheiro syndrome de[Pilo dento ungueale dysplasie microcephalie] * Talamica Sindrome/ Talamica degenerazione Thalamic Syndrome (Dejerine Roussy) Thalamique degenerescence TALASSEMIA Alfa ... Talassemia alfa [Morbo di Cooley/Anemia Mediterranea]/ Talassemia alfa legata all'X con ritardo mentale Thalassemia Major Thalassémie alpha Anémie de Cooley ... Tangier, maladie de

59. Karger Publishers External Resources 12 Pagon RA teschlernicola/Killian syndrome. External Resources14 Lubinsky M A case report of teschler-nicola/Killian syndrome. http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

60. LEONA E.V. - Kontaktvermittlung Translate this page Skelettdysplasie Smith-Lemli-Opitz-Syndrom Smith-Magenis-Syndrom Spinale MuskelatrophieTyp I Tandemduplikation 13q21-pter teschler-nicola-Syndrom Tetrasomie http://www.leona-ev.de/kontaktvermittlung/syndrome.html

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