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         Teschler-nicola Syndrome:     more detail

61. Centre For Arab Genomic Studies
telecanthushypospadias syndrome, ter Haar syndrome, teschler-nicola and Killiansyndrome, Testes, Rudimentary, 273150. testicular feminization (TFM) syndrome,
http://www.cags.org.ae/cags_html/HTML/EN/diseases.php?id=t

62. Prostata
Translate this page F. FISH studies in 45 patients with Rubinstein-Taybi syndrome deletions associated W.,Schmidt, HD, Schröder, I., Schutkowski, H., teschler-nicola, M. und
http://www.uni-duesseldorf.de/WWW/MedFak/humangenetik/publi.htm
Publikationen ab 1997 Dissertationen 4. Schumacher, V.: Molekulare Charakterisierung von Mechanismen zur Entstehung von Wilms-Tumor und Denys-Drash Syndrom (1998) 5. Schulz, S.: Migration aus Osteuropa nach Nordrhein-Westfalen - Untersuchungen anhand der DNA-STR-Systeme TH01 und VWA (2000)
Monographien 2. Huckenbeck, W., Scheil, H.-G.: The distribution of the human DNA-PCR polymorphisms - A worldwide database. Supplement 1998/1999/2000/2001),
http://www.uni-duesseldorf.de/WWW/ MedFak/Serology/dna.html

Publikationen
2. Scheil, H.-G.: Genetische Spuren von Einwanderern - ein Beispiel aus Nordrhein-Westfalen. Rheinische Heimatpflege 34 (1997), 203-206 3. Scheil, H.-G., Huckenbeck, W., Kuntze, K.: DNA polymorphisms and sample size. Med. Leg. Baltica 8 (1997), 56-59 4. Scheil, H.-G., Huckenbeck, W., Scheil, V., Kuntze, K.: Morphological identity testing in chimpanzees. Med. Leg. Baltica 8 (1997), 92-96 5. Schmidt, H.D., Scheil, H.-G.: Hemogenetic studies in Southern Germany. Gene Geogr. 10 (1996), 191-200 (erschienen 1997) 9. Wieczorek, D., Majewski, F., Gillessen-Kaesbach, G.: Cardio-facio-cutaneous (CFC) syndrome - a distinct entity? Report of three patients demonstrating the diagnostic difficulties in delineation of CFC syndrome. Clin. Genet. 52 (1997), 37-46

63. Pallister-Killians Syndrom - Små Och Mindre Kända Handikappgrupper
PallisterKillian syndrome a mild case diagnosed by fluorescence in situ KillianW, teschler-nicola M. Case report 72 Mental retardation, unusual fascial
http://www.sos.se/smkh/1999-29-086/1999-29-086.htm
Socialstyrelsen
106 30 Stockholm
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Socialstyrelsen klassificerar sin utgivning i olika dokumenttyper
Pallister-Killians syndrom
Isokromosom 12p-syndromet
Tetrasomi 12p-syndromet
Sjukdom/skada/diagnos
Orsak till sjukdomen/skadan

Symtom

Diagnostik
...
Dokumentinformation
Dokumentdatum: 2003-02-03
HTML-version: 2.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos.
Sjukdom/skada/diagnos
Orsak till sjukdomen/skadan
Symtom
Diagnostik
Praktiska tips
Resurspersoner Docent Elisabeth Blennow, Kliniskt genetiska avdelningen, Karolinska sjukhuset, 171 76 Stockholm, tel 08-517 753 80, fax 08-32 77 34.
Kurser, erfarenhetsutbyte, rekreation

64. Anthropologie
Translate this page K. Improving body composition and physical activity in Prader-Willi syndrome. Lippert,Michael Schultz, Stephan Shennan und Maria teschler-nicola, Rahden/Westf
http://mti-n.mti.uni-jena.de/~huwww/ANTHRO/Haupt Anthropologie.htm
Institut für Humangenetik und Anthropologie
Klinikum der Friedrich Schiller Universität Jena / Prof. Dr. med. Uwe Claussen g Institut Personal Arbeitsbereiche Mitarbeiterinfo ... Nützliches Anthropologie Lehre Mitarbeiter Publikationen Arbeitsschwerpunkte
  • Wachstum und Entwicklung von Kindern, Jugendlichen und jungen Erwachsenen Säkularer Trend Einfluss therapeutischer Maßnahmen auf Wachstum und Entwicklung Entwicklung Frühgeborener Untersuchungen zur Körperzusammensetzung bei Normal- und Übergewicht Rekonstruktion der bevölkerungsbiologischen Situation und Analyse der Dynamik populationsbiologischer Prozesse anhand von Skelettmaterial des Mittelelbe-Saale-Gebietes Historische Demographie / Bevölkerungsgeschichte / Bevölkerungsentwicklung Forensische Anthropologie Forensische Osteologie
Mitarbeiter Name Vorname Tel. Nr.

65. Tissue-Limited Mosaicism In Pallister-Killian Syndrome A Case In Point
Killian syndrome is a sporadic multiple congenital anomaly syndrome with highly adults,and independently reported in 1981 by Killian and teschlernicola in a 3
http://dx.doi.org/10.1038/sj.jp.7210712
nature.com about npg nature science update naturejobs ... site index SEARCH my account e-alerts subscribe register ... Journal home For readers Content Advance online publication Online sample issue E-alerts ... Society publishing NPG Subject areas Access material from all our publications in your subject area: Biotechnology Cancer Chemistry Clinical Medicine ... Microbiology NEW! Molecular Cell Biology Neuroscience Pharmacology Physics July/August 2002, Volume 22, Number 5, Pages 420-423 Table of contents Previous Abstract Next Full text PDF Perinatal/Neonatal Case Presentation Tissue-Limited Mosaicism in Pallister-Killian Syndrome A Case in Point S Choo MMed (Paed) , SH Teo MMed (Paed), FAMS , M Tan , MH Yong MSc (Med Sci) and LY Ho MMed (Paed), FAMS Department of Neonatology, Singapore General Hospital, Singapore, Singapore Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore Department of Pathology, Singapore General Hospital, Singapore, Singapore Correspondence to: Sylvia Choo, MMed (Paed), Department of Neonatology, Singapore General Hospital, 1 Hospital Drive, Singapore 169608, Singapore Abstract We report a case of Pallister-Killian syndrome in a term female infant. Antenatal ultrasound showed left diaphragmatic hernia and polyhydramnios. She was ventilated from birth and the diaphragm defect repaired on day 5. She had dysmorphic features, including median cleft palate, patchy frontotemporal alopecia, hypopigmented skin whorls, and bilateral profound sensorineural hearing loss. Fetal and postnatal karyotypes of peripheral lymphocytes were both normal, 46, XX. Subsequently, a skin fibroblast culture showed mosaic tetrasomy of isochromosome 12p both on G-banding and fluorescence in situ hybridization, consistent with Pallister-Killian syndrome. This case illustrates the importance of using the appropriate sample type for karyotype analysis with implications for prenatal and postnatal diagnosis.

66. Alcool Et Médications Dans L'antiquité.
Abel EL. Was the fetal alcohol syndrome recognised in the ancient Near East BalabanovaS, teschlernicola M. Was nicotine used as a medicinal agent in ancient
http://www.char-fr.net/docs/biblio/biblioGourev/biblio02.html
Abel EL. Was the fetal alcohol syndrome recognised in the ancient Near East Alcohol and Alcoholism
Africa TW. The opium addiction of Marcus Aurelius Journal of the History of Ideas
. Ed Paris, 1961, 2 nd
Actes du XII , Paris, 1989 : 450-452.
Artamov MI. Frozen tombs of the Scythians Scientific America,
Balabanova S, Parsche F, Pirsig W. First identification of drugs in egyptian mummies Naturwissenschaften,
Balabanova S, et al. Was nicotine known in ancient Egypt ? Homo
Balabanova S, Schultz M. Investigation of nicotine concentrations in prehistoric human skeletons found in early neolithic populations (late PPNB) from the Near East (Turkey ans Jordan). Homo (suppl) : 14. (After 10 th
Balabanova S, Teschler-Nicola M. Was nicotine used as a medicinal agent in ancient populations Tenth European Meeting of the Paleopathology Association.
Balabanova S, Teschler-Nicola M, Stouhal E. Anthropologischer Anzeir
Balabanova S, Schneider H, Teschler-Nicola M, Scherer G.

67. T - IPaki Health Guide
pter), Included; teschlernicola/Killian syndrome; Tethered CervicalSpinal Cord syndrome; Tethered Cord Malformation Sequence; Tethered
http://www.ipaki.com/health/hg/a2z/t.php
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68. Pallister-Killian Mosaic Syndrome
Web site dedicated to the PallisterKillian syndrome, a meeting point, a collection of link and useful information, Il sito raccoglie materiale utile per le famiglie con persone affette dalla
http://www.pk-syndrome.org/
You've just entered
Pallister-Killian Syndrome Home Page
an orientation site
The reasons for this site Useful Links A cosa serve questo sito PKS Description ... Punto di Incontro
To contact us / per contattarci mailto: andrea@pk-syndrome.org Last update 09 April 2003

69. Pallister-Killian Mosaic Syndrome - Phil's Story
Web site dedicated to the PallisterKillian syndrome, a meeting point, a collection of link and useful information, Il sito raccoglie materiale utile per le famiglie con persone affette dalla
http://www.pk-syndrome.org/Phil.htm
Pallister-Killian Syndrome
Phil's story - by Andrea Colasanti
(andrea@pk-syndrome.org)
Filippo (Phil) Colasanti was born in Rome, ITALY, on 7th September 1996 after 39 weeks of pregnancy. His weight at birth was 3,750 Kg. His mother suffered from polyhydramnios probably caused by PKS. She also had an amniocentesis but the syndrome didn't show up. He suffered from breathing problems (distress) and he was in the Neonatal Intensive Care nursery for 4 weeks. He had low muscle tone at birth, sparse scalp hair, a high forehead , a wide space between the eyes, a broad nasal bridge and hypopigmentation (streaks of skin in which there is no colour). I will never forget many of the sensations I had during the first days of Phil's life. The first time I saw him with tubes and wires, the long time he spent in the hospital (4 weeks) with the daily visits taking hundreds of kilometres. The vague explanation that doctors gave us.
We are Italians and we live in Rome. We didn't receive very good support from the Italian medical system at the beginning and we wasted a lot of time in finding the right specialists. PKS is still quite unknown in Italy. At the beginning we wasted a lot of time and money with doctors asserting the strangest hypothesis like the percentage of iron in his blood. One doctor told us that the child was almost perfect, another one told us that he was in terrible conditions. We were really confused and sad.

70. Pallister Killian Mosaic Syndrome From Linkspider UK Health Directory
Directory Topic Pallister Killian Mosaic syndrome assoicated to Health.Directory Tree Top Health Conditions and Diseases Genetic
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71. Pallister Killian Mosaic Syndrome - Information / Diagnosis / Treatment / Preven
home genetic disorders pallister killian mosaic syndrome Pallister KillianMosaic syndrome. Information • Diagnosis • Treatment • Prevention.
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Related Topics: Rare Disorders Medical Definition: University of Newcastle-upon-Tyne Medical Dictionary: "pallister-killian syndrome" Health News: Search millions of published articles for news on Pallister Killian Mosaic Syndrome Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: National Library of Medicine The synonyms of Killian syndrome, a summary and a list of major features. NORD: Pallister Killian Mosaic Syndrome Offers the synonyms, a general discussion and further resources.

72. Heiti Og Lýsingar Sjald
er slóð í síðuna Your Genes, Your Health en þar eru frábærar útskýringará eftirtöldum sjúkdómum Fragile X Marfan syndrome Hemophilia Cystic
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Sjaldgæfir sjúkdómar Sjaldgæfir og erfðatengdir sjúkdómar sem nú eru þekktir eru 4-5000 talsins. Margir þeirra eru mjög alvarlegir en aðrir minna eins og gengur en þó er víst að þeim sem nálægt sjúkdómunum koma er mikið í mun að læra um þá. Hér að neðan er að finna heimasíður sem tilheyra hverjum sjúkdómi fyrir sig. Fyrst eru nöfn þeirra, en ný síða opnast fyrir hvern og einn. Á þeirri síðu er stutt yfirlit yfir sjúkdóminn og heimasíður þar sem finna má frekari upplýsingar. Það bætist stöðugt í safnið og það sem ekki er í dag verður komið á morgun. Sendu póst til mín ef þú ert að leita upplýsinga. Kannski get ég aðstoðað þig við leitina. Póstfangið mitt er: vigga@islandia.is Íslenskar þýðingar Alport heilkenni
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73. Pallister Killian Mosaic Syndrome
advertisement. InterChange Advertisers. Top Health Conditions and DiseasesGenetic Disorders Pallister Killian Mosaic syndrome (3) See Also
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74. :: Ez2Find :: Pallister Killian Mosaic Syndrome
Guide Pallister Killian Mosaic syndrome, Global Metasearch Any Guides,Pallister Killian Mosaic syndrome. ez2Find Home Directory
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75. MizMoz Directory - Conditions And Diseases Pallister Killian
Related Categouries »Health Conditions and Diseases Rare Disorders (115) »NationalLibrary of Medicine The synonyms of Killian syndrome, a summary and a
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Online Shopping FestivalHype Yamaha - MSP3 Powered - Budget Monitors ... Health Related Categouries: CONDITIONS AND DISEASES PALLISTER KILLIAN MOSAIC SYNDROME Band Name: The Shmir Genre: ROCK About Band: Influences: Motley Crue / KISS / G 'n' R / Quireboys View Band page: The Shmir The largest human edited directory on the net. Submit Site ODP Editors V ... Tickets

76. AnsMe Directory - Health > Conditions And Diseases > T
TaySachs Disease. Temporal Lobectomy Behavior syndrome. Tendonitis. Teschler-Nicolasyndrome. Testicular Cancer. Thalasemmia. Thoracic Outlet syndrome.
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77. NAGER & MILLER SYNDROMES
Ft Worth, TX 76109. (817) 9278854. (817) 927-2073 (fax). -teschler-nicola/KillianSyndrome. PELIZAEUS-MERZBACHER DISEASE. The PMD Foundation. 333 Homestead Ave.
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.

78. Anthropologie
W. (1981) Case Report 72. syndrome Identification. Vol. 7, No. 1, 6.
http://www.nhm-wien.ac.at/NHM/Anthro/tpubl.html
a.o.Univ.Prof. Dr. Maria Teschler-Nicola Abteilungsdirektorin , Tel: +43 1 52177 maria.teschler@univie.ac.at Curriculum, Forschungsprojekte Download: M Teschler Publikationen.pdf (28 KB) Download: M Teschler Publikationen .rtf
Publikationsliste (Publications)
(Stand 1. November 2000)
Originalarbeiten (inklusive Abstracts)/Original articles and abstracts Mycobacterium tuberculosis . Coll. Antropol Coll. Antropol The FASEB Journal (Federation of American Societies for Experimental Biology), 13, No. 3, 559-562. Top 110 Latkoczy, C., Prohaska, T., Watkins, M., Stingeder, G., Teschler-Nicola, M., Online matrix separation by coupling liquid chromatography to an inductively coupled plasma sectorfield mass spectrometer (HPLC-ICP-SMS) for accurate strontium isotopic ratio determination in prehistoric samples (i.p.). Homo. 49, Suppl., p. 78 (A). XIIth European Meeting of the Paleopathology Association , Prag/Pilsen, 26.-29.8.1998, p. 10 (A).

79. Uniklinik-duesseldorf.de
Translate this page F. FISH studies in 45 patients with Rubinstein-Taybi syndrome deletions associated W.Schmidt, HD, Schröder, I., Schutkowski, M., Teschler- Nicola, M. und
http://www.uniklinik-duesseldorf.de/ukd/deutsch/Unternehmen/Institute/Institut f

80. AllRefer Health Health Links Directory Conditions And Diseases
Sites. National Library of Medicine The synonyms of Killian syndrome,a summary and a list of major features. NORD Pallister Killian
http://health.allrefer.com/links/genetic-disorders-pallister-killian-mosaic-synd

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