61. Smith’s Recognizable Patterns Of Human Malformation, 6th Edition Syndrome Menkes Syndrome 22q13 Deletion Syndrome Angelman Syndrome PraderWilliSyndrome Cohen Syndrome Killian/teschler-nicola syndrome 1p36 Deletion Syndrome http://www.harcourt-international.com/catalogue/title.cfm?ISBN=0721606156

62. Look.com 54) Tangier Disease (2) Tapeworms (22) TaySachs Disease (4) Temporal LobectomyBehavior Syndrome (3) Tendonitis (12) teschler-nicola syndrome (2) Testicular http://www.look.com/search/directorysearch.asp?category=T&p=43362

63. Pallister-Killian Mosaic Syndrome Web site dedicated to the PallisterKillian syndrome, a meeting point, teschler-nicola, M.; Killian, W. Case report 72 mental retardation, http://www.pk-syndrome.org/references.htm

A list of Scientific References concerning PKS Cormier-Daire, V.; Le Merrer, M.; Gigarel, N.; Morichon, N.; Prieur, M.; Lyonnet, S.; Vekemans, M.; Munnich, A.: Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome. Am. J. Med. Genet. de Bruin, T. W. A.; Slater, R. M.; Defferrari, R.; Geurts van Kessel, A.; Suijkerbuijk, R. F.; Jansen, G.; de Jong, B.; Oosterhuis, J. W.: Isochromosome 12p-positive pineal germ cell tumor. Cancer Res. Hunter, A. G. W.; Clifford, B.; Cox, D. M.: The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome. Clin. Genet. Mauceri, L.; Sorge, G.; Incorpora, G.; Pavone, L.: Pallister-Killian syndrome: case report with pineal tumor. Am. J. Med. Genet. Pallister, P. D.; Meisner, L. F.; Elejalde, B. R.; Francke, U.; Herrmann, J.; Spranger, J.; Tiddy, W.; Inhorn, S. L.; Opitz, J. M.: The Pallister mosaic syndrome. Birth Defects Orig. Art. Ser. XIII(3B): 103-110, 1977. Schinzel, A.: Tetrasomy 12p (Pallister-Killian syndrome). J. Med. Genet.

64. Definitions Of Genetic Disorders -T teschlernicola/Killian syndrome pallkill.htm Tethered Spinal Cord syndrometscs.htm Tethered Cord Malformation Sequence tscs.htm http://www.icomm.ca/geneinfo/def-t.htm

65. TheFetus.net - Pallister Killian Syndrome -Fabrice Cuillier, M. Deshayes, J.F. C 11 Lubinsky M. A case report of teschler-nicola/Killian syndrome. teschler-nicola/Killian syndrome a sporadic case in an 11-year-old male. http://www.thefetus.net/page.php?id=1162

66. TheFetus.net - Case Of The Week #120-Luc Druart MD, Helene Dessuant MD, Luc Gour Identical nature of the Pallister syndrome, the teschlernicola/Killian syndromeand mosaic tetrasomy 21J Genet Hum. 1987 Jan;35(1)51-61. French. http://www.thefetus.net/case.php?id=1305&answer=1

67. Chromosome 12p Tetrasomy Syndrome Information Diseases Database teschlernicola and Killian syndrome aka/or Tetrasomy 12p. may cause or feature+ (Follow link for list.) belong(s) to the category of + (Follow link for http://www.diseasesdatabase.com/ddb32521.htm

Diseases Database Index Sponsors Contact ... Previous Page Chromosome 12p tetrasomy syndrome information Search 5 synonyms or equivalents were found. Chromosome 12p tetrasomy syndrome aka/or Pallister mosaic aneuploidy aka/or Pallister-Killian syndrome 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 web 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 Valid XHTML 1.0 Served 2005-09-09 20:42:34 View metadata Last major update 2005-09-03. The medical information here is presented for education, background reading and general interest. The Diseases Database is not a diagnostic or clinical decision-making tool. Please consult your own licensed physician regarding diagnosis and treatment of any medical condition!

68. Disease, Medication, Symptom Etc Database Index : T Diseases Database teschlernicola and Killian syndrome see Chromosome 12p tetrasomy syndrome Test item Testicular agenesis see Gonadal dysgenesis (male) Testicular cancer 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 amplitude decreased see T waves flat 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 ... Taenia solium Taenia species see Teniasis Tafenoquine Tailor's bunion Takahara's disease see Acatalasia Takayasu's arteritis Takotsubo cardiomyopathy Tako-tsubo syndrome see Takotsubo cardiomyopathy 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 Chalazion Tarsal tunnel syndrome Tarsal-carpal coalition 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

69. Rare Diseases Terms - Office Of Rare Diseases Isochromosome 12p syndrome. teschlernicola and Killian syndrome. Tetrasomy 12p.Information about Pallister-Killian syndrome is available from http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=8421

70. NAGER & MILLER SYNDROMES teschler-nicola/Killian syndrome. PELIZAEUS-MERZBACHER DISEASE. The PMD Foundation.333 Homestead Ave. Haddonfield, NJ 08033. (856) 795-1539 http://www.as.wvu.edu/~scidis/organizationN_S.html

Foundation for Nager and Miller Syndromes (FNMS) 1827 Grove St. #2 Glenview, IL 60025-2913 (847) 724-6449 (fax) fnms@interaccess.com http://www.fnms.net -Acrofacial Dysostosis, Nager Type NEUROFIBROMATOSIS National Neurofibromatosis Foundation John Radziejewski Director of Public Education 95 Pine St., 16th Floor New York, NY 10005 (212) 747-0004 (fax) nnff@nf.org http://www.nf.org Neurofibromatosis, Inc. 9320 Annapolis Rd., Ste. 300 Lanham, MD 20706-2924 (301) 918-0009 (fax) nfinc1@aol.com http://www.nfinc.org -Von Recklinghausen Disease NEUROLOGICAL DISORDERS Association for Comprehensive Neurotherapy Latitudes PO Box 210848 Royal Palm Beach, FL 33421 (561) 798-9820 (fax) acn@latitudes.org Children's Neurobiological Solutions 1726 Franceschi Rd. Santa Barbara, CA 93103 (866) 267-5580 or info@cnsfoundation.org http://www.cnsfoundation.org The Colleen Giblin Foundation Meg Minassian, Exec, Dir. 690 Kinderkamack Rd., Ste. 104 Oradell, NJ 07649 (201) 262-6442 (fax) cgf01@aol.com http://www.colleengiblinfound.org NEUROTRANSMITTER DISEASES, PEDIATRIC Pediatric Neutransmitter Disease Association 6 Nathan Dr.

71. Karger Publishers 14 Lubinsky M A case report of teschlernicola/Killian syndrome. J Clin Dysmorphol1983;125-27. External Resources; 15 Quarrell OW, Hamill MA, http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

72. Rare Pediatric Disease Database ID 466 PallisterKillian syndrome AKA Isochromosome 12p Mosaic, Tetrasomy 12p,Pallister-Killian Mosaic syndrome, teschler-nicola and Killian syndrome http://www.madisonsfoundation.org/content/3/1/list.asp?mode=listall&letter=P

73. Rare Pediatric Disease Database PallisterKillian syndrome Document ID 466. Isochromosome 12p Mosaic, Tetrasomy12p, Pallister-Killian Mosaic syndrome, teschler-nicola and Killian syndrome. http://www.madisonsfoundation.org/content/3/1/display.asp?did=466

74. JHC -- Sign In Page PallisterKillian syndrome (PKS) is characterized cytogenetically by mosaic Killian W, teschler-nicola M (1981) Case report 72 mental retardation, http://www.jhc.org/cgi/content/full/53/3/361

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This item requires a subscription to Journal of Histochemistry and Cytochemistry Online. Full Text Pallister-Killian Syndrome: Rapid Decrease of Isochromosome 12p Frequency during... Polityko et al. J. Histochem. Cytochem.. This Article Abstract Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Polityko, A. D. Articles by Naumchik, I. 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? Purchase Short-Term Access Pay per Article - You may access this article (from the computer you are currently using) for 7 days for US$5.00 Regain Access - You can regain access to a recent Pay per Article purchase if your access period has not yet expired.

75. Sindrome Pallister-killian Translate this page Hall, BD teschler-nicola/Killian syndrome A sporadic case in na 11 year old male.J. Clin. Dismorph., I (3)1, 1983. Schroer, RJ, and Stevenson, 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.

76. Syndrome DB - Table Of Contents telecanthushypospadias syndrome ter Haar syndrome teschler-nicola and Killiansyndrome testicular feminization (TFM) syndrome 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

77. 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.

78. Arch Ophthalmol -- Retinal Pigment Mosaicism In Pallister-Killian Syndrome (Mosa PallisterKillian syndrome (PKS) was first reported by Pallister in 19771 andlater by teschler-nicola and Killian in 1981.2 This condition is caused by a http://archopht.ama-assn.org/cgi/content/extract/117/12/1648

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 117 No. 12, December 1999 Featured Link E-mail Alerts Case Reports and Small Case Series Article Options Full text PDF Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Graham W Kukolich MK ISI Web of Science (1) Contact me when this article is cited Retinal Pigment Mosaicism in Pallister-Killian Syndrome (Mosaic Tetrasomy 12p) Arch Ophthalmol. Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. Pallister-Killian syndrome (PKS) was first reported by Pallister in 1977 and later by Teschler-Nicola and Killian in 1981. This condition is caused by a mosaic tetrasomy of chromosome 12p, which is detectable in cultured fibroblastoid cells but

79. All Topics Terminal Duct Carcinoma, Terrorism and Other Public Health Threats,teschlernicola/Killian syndrome, Top. Testicular Biopsy Medical Test, http://www.everettclinic.com/kbase/list/all/t.htm

All Topics Click a letter to see a list of topics beginning with that letter. A B C D ... T-Lymphocyte Measurement [Medical Test] T.O.P.S. (Take Off Pounds Sensibly) - Overweight [Support Group] T.R.U.E. (Transplanted to Resolve Urea cycle Enzyme def.) Kids - Urea Cycle Disorders [Support Group] T3 (Triiodothyronine) Test [Medical Test] T4 (Thyroxine) Test [Medical Test] TA TAD Tai Chi and Qi Gong Takatsuki syndrome Takayasu Disease ... Takayasu's Arteritis [Support Group] Takayasu's Arteritis Association - Takayasu's Arteritis [Support Group] Take Root - Child Abuse (Physical/Emotional) [Support Group] Taking an active role in the management of your rheumatoid arthritis Taking anticoagulants for atrial fibrillation Taking anticoagulants for deep vein thrombosis Taking antiretroviral medications for HIV infection ... Talipes Valgus Top Talipes Varus Talking With Your Teenager About Sex Tall Clubs International - Short / Tall [Support Group] Tamoxifen [Medication] Tangier Disease TAO Tapanui Flu TAPS (Tragedy Assistance Program for Survivors) - Bereavement (General) [Support Group] TAPS (Tragedy Assistance Program for Survivors) - September 11th Trauma Recovery [Support Group] TAPS (Tragedy Assistance Program for Survivors) - Veterans / Military [Support Group] TAR Syndrome TARA - Mental Health Helpline [Support Group] Tardive Dyskinesia Tardive Dystonia Tardive Muscular Dystrophy Tardive Oral Dyskinesia ... Tars for psoriasis [Medication] Tarsal Cyst Tarsal Tunnel Syndrome Tarsomegaly Tarui Disease ... TAS, Midline Defects, Included

80. WebMD With AOL Health - Index KikuchiFujimoto Disease Nord Killian syndrome Nord Killian/Teschler-Nicolasyndrome Nord Kinky Hair Disease Nord Kinsbourne syndrome Nord http://aolsvc.health.webmd.aol.com/hw/index/index-all-K.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; Friday, September 09, 2005 WebMD Main Condition Centers Medical Library Health Tools ... Site Map You are in Medical Library All Content Sources Health Guide A-Z Illustrated Guides Medical News Archive Member Stories Symptom Checker Health Topics Symptoms Medical Tests Medications ... Support Organizations Search the Help All Topics Click a letter to see a list of topics beginning with that letter A B C D ... KW K K [MedicalTest] back to top KA Kabuki Make-up Syndrome [Nord] Kabuki Syndrome [Shc] Kabuki Syndrome Network - Kabuki Syndrome [Shc] Kahler Disease [Nord] ... back to top KB KBG Syndrome [Nord] back to top KC KC [Nord] back to top KD KD [Nord] back to top KE Kearns Sayre Syndrome [Nord] Kearns-Sayre Disease [Nord] Kegel Exercises [Special] Kennedy Disease [Nord] ... back to top KF KFS [Nord] back to top KI KickAS.org - Ankylosing Spondylitis [Shc] KID SAVE - Youth Helpline [Shc] KID Syndrome [Nord] Kidneeds - Kidney Disease [Shc] ... back to top KL Kleine Levin Syndrome [Nord] Kleine-Levin Hibernation Syndrome [Nord] Klinefelter Syndrome [Mini] Klinefelter Syndrome [Shc] ... back to top KM KMS [Nord] back to top KN Knee MRI [MedicalTest] Knee Problems and Injuries [Symptom] Knee replacement surgery [SurgicalDetail] Kneecap Instability [Major] ... back to top KO Kobner's Disease [Nord] KOH (potassium hydroxide) preparation [TestDetail] KOH (potassium hydroxide) preparation for fungal nail infections [TestDetail] KOH (potassium hydroxide) preparation for oral candidiasis (thrush) [TestDetail] ... back to top KR

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