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NORD Rare Disease - Medical Transcription At Medword Vera Polyglucosan Body Disease, Adult Polymyalgia Rheumatica Polymyositis Polyposis,Familial Pompe Disease popliteal pterygium syndrome Porphyria Porphyria http://www.medword.com/rardisP.html
Extractions: SITE MENU Books Business Courses Diversions ... Search This listing of rare diseases is provided for spelling reference. Clicking on the link will generate a new window and take you to NORD's home page, where you may search for an abstract of the disease or order a full text report of the disease. Please read the notice at the bottom of this page before using this list. Please use the above list at your own risk. While we make every effort to ensure accuracy, we cannot be held responsible for errors in spelling or capitalization, or any circumstance that may result because of said error. In using the above list you also agree to never hold ANSO Consulting Inc. or Medword Medical Transcription responsible for any errors should they exist. Please Note:
Genetic Wizard OMIM, UMF, Lissencephaly, NINDS, OMIM, popliteal pterygium syndrome, LissencephalyNetwork, OMIM, Lissencephaly Launch Pad, Family Village, Gene Clinics, http://www.geocities.com/tal_70118/geneticwizard.html
Extractions: The Web is an exceptional source of genetic information, some of it organized into databases covering a large number of topics, others targeting single conditions. The most comprehensive Web-based genetic database is Online Mendelian Inheritance in Man (OMIM) containing over 10,000 entries. Click on OMIM. It gives you acess to an OMIM search form. Just type in the name of the condition and wait for your information. Don't forget to look at the "Clinical Synopsis" for a precis of the presenting features. OMIM contains more information than you may need, it has links to other databases in the human genome complex, but you may need help from your counselor to understand the details.
Untitled Bartsocas and Papas (1972) reported 4 sibs in a consanguineous Greek family witha recessive form of the popliteal pterygium syndrome(MIM 119500).The clinical http://www.faseb.org/genetics/ashg00/f671.htm
Study Criteria popliteal pterygium syndrome (OMIM 119500 or OMIM GENE 607199);Van der Woude syndrome (OMIM 119300 or OMIM GENE 607199); http://www.uiowa.edu/~didr/Study Criteria.htm
Extractions: Return to Information for Families The Main Study - Non-syndromic Clefts: The first criteria to be in the study is that there are 2 or more blood-related people with a cleft who are willing to participate. These can be siblings, parent/child, grandparent/grandchild, uncle or aunt/nephew or niece, anything - even second cousins, great aunts, first cousins once removed, etc. If there are more than 2 affected family members, that's even better. CLEFT: There are 2 genetically distinct types of non-syndromic clefts we are studying. The first type is familial cases of cleft lip with or without cleft palate (CL/P). The second type consists of cleft palate only (CPO). Occasionally we see somebody with a cleft lip related to somebody with just a cleft palate, but we think this is probably due to coincidence. However we would like to study these families as well, to explore this question. CHILDREN: The children can be of any age. Sometimes we plan to do the blood draw when the child is undergoing surgical repair. This way the blood can be drawn through the same line as the anesthesia IV, so the child is unconscious of any pain, and no extra needle puncture is required. We always try to verify that the child assents to the blood draw if they are over age 9.
Publication Biomédicales De Rouen - Mars 95 Delcampe P. Retout A. Bachy B. Peron JM. Institution Service de Chirurgie MaxilloFaciale,CHU Rouen. Title popliteal pterygium syndrome. A exceptional case. http://www.chu-rouen.fr/drrc/pub/pub9503.html
Genetic Conditions List PKU) Picks Disease Pierre Robin syndrome Poland syndrome Polyostic Fibrous DysplasiaPompe disease Potter syndrome popliteal pterygium syndrome PraderWilli http://www.agsa-geneticsupport.org.au/conditions_list.html
CHS ~ 1999-2003 Questions And Answers: Pediatric Urology: Hypospadias 19992003 Questions and Answers. Pediatric Urology Hypospadias. QuestionOur 4 month-old son was born with popliteal pterygium syndrome. http://www.coloradohealthsite.org/chnqna.html?Pediatric Urology?Hypospadias?831
OAss. PD Dr. Rer. Nat. Habil. V. Beensen Fachhumangenetiker 34. Translate this page SEIDEL, J., FASCO, F., SACHSE, A., BEENSEN, V., CHUDOBA, I., SITTE-ZÖLLNER, P.Diagnosis and therapy of a patient with popliteal pterygium syndrome (PPS) Med http://mti-n.mti.uni-jena.de/~huwww/ZYTO/PUBLI.HTM
Extractions: Ausgewählte Publikationen der letzten Jahre OAss. PD Dr. rer. nat. habil. V. Beensen Fachhumangenetiker 34. BEENSEN, V., GROSS, W., HAUSCHILD, R., KELBOVA, CH. und EICHHORN, K.-H.: Pränataldiagnostik genetisch bedingter Erkrankungen Ärzteblatt Thüringen 1 (1995) 43 - 51 35. KELBOVA, CH., BEENSEN, V., SENGER, G., CLAUSSEN, U., SEIDEL, J.: Mit FISH genetisch bedingten Krankheiten auf der Spur Zeiss Information mit Jenaer Rundschau 5 (1996) S. 10-12. 36. RUBTSOV, N., SENGER, G., KUZCERA, H., NEUMANN, A., KELBOVA, CH., JUNKER, K., BEENSEN, V., CLAUSSEN, U.: Interstitial deletion of chromosome 6q: precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting Hum. Genet. 97 (1996) S. 705-709. 37. BEENSEN, V., ERNST, G., WOLLINA, U.: Bedeutung genetischer Faktoren für die Entstehung maligner Melanome und dysplastischer Naevi Ärzteblatt Thüringen 12 (1996) S. 618 - 621 38. LIEHR, TH., STARKE, H., BEENSEN, V., KÄHLER, CH., HARBICH, M., BRUDE, E., ZIEGLER, M. and CLAUSSEN, U.: Translocation trisomy dup (21q) and free trisomy 21 can be distinguished by interphase-FISH Internat. J. Mol. Med. 3 (1999) 11 - 14 40. SEIDEL, J., VOGT, S., KIRCHNER, M., KAUF, E., BEENSEN, V. und ZINTL, F.: Zur wissenschaftlichen Auseinandersetzung mit Erkrankungen des Skelettsystems in der Universitäts-Kinderklinik Jena - Ein historischer Überblick Pädiatr. Grenzgeb. 38 (1999) 51 - 63
Ingenta Select popliteal pterygium syndrome in a Swedish familyclinical findings and geneticanalysis with the van der Woude syndrome locus at 1q32-q41, p85. http://www.ingentaselect.com/vl=1/cl=4/nw=1/rpsv/catchword/tandf/00016357/v58n2/
Open Classes's $p->page_title Svenska Open Directory Health Conditions and Diseases GeneticDisorders popliteal pterygium syndrome Previous Catagory. http://dodo101.ath.cx/expat/odp.php/Health/Conditions_and_Diseases/Genetic_Disor
Extractions: Open Directory Edit Add URL Update URL Description ... Svenska Open Directory - Health: Conditions and Diseases: Genetic Disorders: Popliteal Pterygium Syndrome [ Previous Catagory See also: Open Directory - Health: Conditions and Diseases: Genetic Disorders: Popliteal Pterygium Syndrome [ Previous Catagory All the Web AltaVista Deja Google ... Yahoo Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor
Birth Disorder Information Directory - P Pontocerebellar Hypoplasia Type II Support Group. popliteal pterygiumsyndrome See pterygium, syndrome, popliteal. Porencephaly List http://www.bdid.com/defectp.htm
Extractions: HOME P-4 Deletion Syndrome p47-PHOX, Deficiency of p67-PHOX, Deficiency of Pachydermopreiostosis (Hypertrophic Osteoarthropathy, Primary or Idiopathic) Pachyonychia Congenita Pagod Syndrome Pagon Bird Detter Syndrome (Anemia Sideroblastic Spinocerebellar Ataxia) Pagon Syndrome Pallister Syndrome Pallister Hall Syndrome (Hypothalamic Hamartoblastoma, Hypopituitarism, Imperperforate Anus, and Postaxial Polydactyly) Pallister Killian Syndrome V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2
UNSW Embryology-OMIM Cleft Lip List PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, popliteal pterygium, DIGITAL AND ECTRODACTYLY,ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE syndrome 1; EEC1 http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/head/OMIM-cleftlip_list.htm
Extractions: HEAD AND NECK DEVELOPMENT Embryology Home Page Select Entries from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Internet access computers can see the full description of the abnormality from the links below. Back to UNSW Embryology-Head and Neck Notes 154 entries found, searching for "cleft lip" OROFACIAL CLEFT 1; OFC1
99-1-5 is named as pterygium syndrome, multiple pterygium syndrome or pterygium colli syndromeis characterized with webbing in the neck, popliteal and antecubital http://www.cu.edu.tr/fakulteler/tf/tfd/99-1-5.htm
Extractions: ÇUKUROVA ÜNÝVERSÝTESÝ TIP FAKÜLTESÝ DERGÝSÝ Sayfa: 24-26, Cilt: 24 , Sayý: Multipl pterigium sendromu: bir olgu sunumu Dr.Münevver TÜRKMEN , Dr.Dilara SÜLEYMANOVA Adnan Menderes Üniversitesi Týp Fakültesi Çocuk Saðlýðý ve Hastalýklarý ABD. AYDIN, Ç.Ü. Týp Fakültesi Týbbý Biyoloji ve Genetik ABD. Balcalý/ADANA ÖZET: Pterigium sendromu, multipl pterigium sendromu, pterygium colli sendromu olarak adlandýrýlan bu antite; boyunda, antekubital ve popliteal fossada yelelenme (webbing), göðüs deformiteleri, skolyoz (vertebra anomalileri), sindaktili, kamptodaktili, boy kýsalýðý, min r yüz anomalileri ve yarýk damak ile karakterizedir. Genetik geçiþi konusunda çeþitli görüþler varsa da otosomal resesif kalýtým þekli kabul görmüþtür. Burada akraba evliliði sonucu doðan, dismorfik yüz görünümü, boyunda yelelenme, dirsekler de, omuz, diz ekleminin arkasýnda, kalça ekleminin ön yüzünde deri kývrýmlarý (pterigium) ve göðüs kafesinde deformiteleri, kriptorþidizmi olan multipl pterigium sendromu tanýsý konan bir olgu genetik danýþma verilmesi nedeniyle sunulmuþtur. Anahtar kelimeler: Multipl pterigium sendromu, Otosomal resesif kalýtým
