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22. Clinical Study: 94-HG-0193, Phenotype And Etiology Of Pallister-Hall Syndrome Title Phenotype and Etiology of pallisterhall syndrome Number 94-HG-0193 SummaryWe aim to delineate the range of severity, natural history, molecular http://clinicalstudies.info.nih.gov/detail/A_1994-HG-0193.html

Protocol Number: 94-HG-0193 Title: Phenotype and Etiology of Pallister-Hall Syndrome Number: 94-HG-0193 Summary: We aim to delineate the range of severity, natural history, molecular etiology, and pathophysiology of Pallister-Hall syndrome (PHS), Greig cephalopolysyndactyly syndrome (GCPS), McKusick-Kaufman syndrome (MKS), Bardet-Biedl syndrome (BBS), Oro-facial digital syndromes (OFDs), and other overlapping phenotypes. These disorders comprise a syndrome community of overlapping manifestations and we hypothesize that this is a reflection of a common mechanistic pathway. This hypothesis be addressed by a combined clinical-molecular approach where we bring up to 50-100 patients with each disorder to the NIH clinical center for a comprehensive clinical evaluation with follow-up at a frequency appropriate to the disorder. Specimens will be collected and evaluated in the laboratory by linkage analysis, physical mapping, candidate gene characterization, mutation screening, and cell biologic studies of normal mutant proteins. Sponsoring Institute: National Human Genome Research Institute (NHGRI) Recruitment Detail Type: Active Accrual Of New Subjects Gender: Referral Letter Required: No Population Exclusion(s): None Eligibility Criteria: INCLUSION CRITERIA: Subjects with clinical manifestations of a polydactyly syndrome including; PHS, oral-facial-digital syndrome, McKusick-Kaufman syndrome, Grieg cephalopolysyndactyly syndrome, Bardet-Biedl syndrome, acrocallosal syndrome, autosomal dominant polydactyly, isolated hypothalamic hamartoma.

23. Searchalot Directory For Pallister-Hall Syndrome Sponsored Links. Top Health Conditions and Diseases Genetic Disorders PallisterHallSyndrome (6). Related Web Sites. http://www.searchalot.com/Top/Health/ConditionsandDiseases/GeneticDisorders/Pall

Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Genetic Disorders : Pallister-Hall Syndrome Related Web Sites National Library of Medicine - Pallister-Hall syndrome, its synonyms, a summary and a list of major features. Yahoo! Groups : Pallister-Hall Syndrome - Details and instructions for joining, posting and reading the mail for this email support group. NORD - Pallister Hall Syndrome - Offers the synonyms, a general discussion and further resources. Pallister-Hall Syndrome: A Layman's Guide - PHS, its causes,symptoms, the abnormalities, findings, diagnosing, treatment together with Dictionary of Abbreviations and Terms for Patients. Pallister-Hall Foundation (Australia) - Resource and reference about Pallister-Hall Syndrome.

24. Searchalot Directory For P Syndrome (3); pallisterhall syndrome (6); Pancreatic Cancer (32);Pancreatitis (9); Panic (21); Papillotonic Psuedotabes (5); Parasitic http://www.searchalot.com/Top/Health/ConditionsandDiseases/P/

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25. Page Not Found pallisterhall syndrome. Syndrome, pallister-hall syndrome. Gene Name, GLI-Kruppelfamily member 3 oncogene. Gene Symbol, GLI3. OMIM Number of the Gene, 165240. http://www.nidr.nih.gov/cranio/detail/146510.htm

Please check to see if you entered the correct URL. If you did, it might be that the link no longer exists. As an option, you may do a search of our site. If all else fails, please fill in the form below and send it to the webmaster to report the broken link. Your Name: Email Address: Please indicate the broken URL here: Your browser doesn't support JavaScript. It will, however, affect only two minor things: it will distort the page appearance and will disable the "printer-friendly version" link. NIDCR Home Page Contact us Accessibility Privacy statement ... Search Image in banner: magnified fluoride crystal National Institute of Dental and Craniofacial Research National Institutes of Health Bethesda, MD 20892-2190 e-mail: nidcrinfo@mail.nih.gov phone: 301/496-4261 National Institutes of Health Department of Health and Human Services

26. Directory :: Look.com pallisterhall syndrome (6) See Also. Sites. NORD - Pallister Hall SyndromeOffers the synonyms, a general discussion and further resources. http://www.look.com/searchroute/directorysearch.asp?p=553125

27. Directory :: Look.com PCC Deficiency (4) POEMS Syndrome (3) Pain (46) Pallister Killian Mosaic Syndrome(3) pallisterhall syndrome (6) Pancreatic Cancer (32) Pancreatitis (9) Panic http://www.look.com/searchroute/directorysearch.asp?p=43358

28. WebGuest - Open Directory : Health : Conditions And Diseases : Genetic Disorders Top Health Conditions and Diseases Genetic Disorders pallisterhall syndrome(4). See also Health Conditions and Diseases Rare Disorders (126). Sites http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Genetic_D

Browse thru 1000's of books about health, mind and body: About Us Privacy Statement Acceptable Use Policy Legal Notices ... Contact Us the entire directory only in Genetic_Disorders/Pallister-Hall_Syndrome Top Health Conditions and Diseases Genetic Disorders : Pallister-Hall Syndrome See also: Health: Conditions and Diseases: Rare Disorders Sites: National Library of Medicine - Pallister-Hall syndrome, its synonyms, a summary and a list of major features. NORD - Pallister Hall Syndrome - Offers the synonyms, a general discussion and further resources. Pallister-Hall Syndrome: A Layman's Guide - For PHS patients, their care givers, and medical practitioners. Yahoo! Groups : Pallister-Hall Syndrome - Details and instructions for joining, posting and reading the mail for this email support group. Last update: 15:09 PT, Wednesday, October 23, 2002 Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

29. EnableNet - Enablenet.browse.browse Disability Information Disabilities, Diseases and Dis Multiple Disabilities pallisterhall syndrome pallister-hall syndrome Matching Resources. http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=2822

30. EnableNet - Enablenet.browse.browse Noonan's Syndrome. Opitz Trigonocephaly Syndrome. pallisterhall syndrome. Progeria.Pseudoxanthoma Elasticum. Smith-Lemli-Opitz / RSH Syndrome. Stickler Syndrome. http://www.enable.net.au/index.cfm?fuseaction=enablenet.browse.browse&catid=1944

31. Viewbook- Leslie Biesecker The main areas of research in the lab are investigations into pallisterhall syndrome(PHS), McKusick-Kaufmann syndrome, Oral-Facial-Digital syndrome type VI http://gpp.nih.gov/researchers/viewbook/Biesecker_Leslie.html

Leslie Biesecker M.D., University of Illinois, 1983 National Institutes of Health 9000 Rockville Pike Building 49 / Room 4A80 Bethesda, Maryland 20892-4472 Phone Number: 301-402-2041 Fax Number: 301-402-2170 Email Address: leslieb@helix.nih.gov Web Site: http://www.nhgri.nih.gov/Intramural_research/People/biesecker.html Research Interest(s): Developmental Biology / Reproduction Genetics and Human Genome Research Description: Molecular genetics of human developmental anomalies Leslie G. Biesecker works in the Genetic Disease Research Branch. The research in the lab centers on questions pertaining to developmental biology and birth defects. We are interested in pursuing novel mechanisms of normal mammalian development and disruptions of those processes that lead to birth defects. The work in the laboratory includes three main areas, single gene malformation disorders, medical genetics of Anabaptist sects, and novel techniques to identify chromosomal aberrations. Selected Publications: Bardet Biedl syndrome can be caused by mutations in MKKS. AM Slavotinek, EM Stone, JR Heckenlively, JS Green, E Heon, MA Musarella, PS Parfrey, V Sheffield, LG Biesecker. Nature Genetics 26:15-16(2000).

32. Online And Offline Support: P P. pallisterhall syndrome. Pallister-Hall Foundation People servedFamilies dealing with pallister-hall syndrome; Services provided http://www.widesmiles.org/support/p.html

P Pallister-Hall Syndrome Pallister-Hall Foundation People served: Families dealing with Pallister-Hall Syndrome Services provided: Information and referral, networking, and printed materials Address: RFD Box, 3000 Fairground Road, Bradford VT 05033 Pallister-Killian Syndrome Pallister-Killian Family Support Group People served: Individuals and families dealing with Pallister-Killian Syndrome and related syndromes Services provided: Information and support Address: 3700 Wyndale Court, Fort Worth TX 76109 Phone number: (817) 927-8854 Parry-Romberg Syndrome/Romberg Syndrome The Rombergs Connection and The Romberg's Connection Annex People served: Individuals dealing with Rombergs Syndrome Services provided: Information and support Email address: rombergs@hotmail.com Main Website: http://www.geocities.com/HotSprings/1018/ Annex Website: http://www.geocities.com/HotSprings/Spa/4818/ Pituitary Disorders Please note: Pituitary disorders can occur with craniofacial conditions. Pituitary Tumor Network Association Network People served: Individuals and families dealing with pituitary tumors or other disorders of the pituitary gland Services: Offline: Information and referral, resource guide, news on diagnosis and treatment, and support

33. CancerGene GLI3 Bose J;Grotewold L;Ruther U pallisterhall syndrome phenotype in micemutant for Gli3. 165240, Link to 146510, pallister-hall syndrome, (3). http://caroll.vjf.cnrs.fr/cancergene/CG384.html

Infobiogen Search CancerGene CancerGene Homepage Search CancerGene Citations CancerGene Card Symbol Aliases GCPS Name GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome; oncogene GLI3) Locus OMIM GDB SwissProt LocusLink Class RELONC Diseases Abnormalities, Multiple; Hamartoma; Hypothalamic Diseases; Polydactyly; Syndrome Note not related to any form of neoplasia Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Recent Articles : te Welscher P;Zuniga A;Kuijper S;Drenth T;Goedemans HJ;Meijlink F;Zeller R Progression of vertebrate limb development through SHH-mediated counteraction of GLI3. Science 2002 Oct 25;298(5594):827-30. Litingtung Y;Dahn RD;Li Y;Fallon JF;Chiang C Shh and Gli3 are dispensable for limb skeleton formation but regulate digit number and identity. Nature 2002 Aug 29;418(6901):979-83. Bose J;Grotewold L;Ruther U Pallister-Hall syndrome phenotype in mice mutant for Gli3. Hum Mol Genet 2002 May 1;11(9):1129-35. Wang B;Fallon JF;Beachy PA Hedgehog-regulated processing of Gli3 produces an anterior/posterior repressor gradient in the developing vertebrate limb.

34. Nature Genetics volume 15 number 3 page 266 GLI3 frameshift mutations cause autosomal dominantpallisterhall syndrome Seongman Kang 1 , John M. Graham Jr. http://www.nature.com/ng/wilma/v15n3.862408532.html

letters RETURN TO March 1997 TABLE OF CONTENTS volume 15 number 3 page 266 frameshift mutations cause autosomal dominant Pallister-Hall syndrome Seongman Kang , John M. Graham Jr. , Ann Haskins Olney Pallister-Hall syndrome (PHS, M146510) was first described in 1980 in six newborns. It is a pleiotropic disorder of human development that comprises hypothalamic hamartoma, central polydactyly, and other malformations . This disorder is inherited as an autosomal dominant trait and has been mapped to 7p13 (S. Kang et al . Autosomal dominant Pallister-Hall syndrome maps to 7p13. Am. J. Hum. Genet. 59, A81 (1996)). co-localizing the PHS locus and the zinc finger transcription factor gene . Large deletions or translocations resulting in haploinsufficiency of the gene have been associated with Greig cephalopolysyndactyly syndrome (GCPS; M175700) although no mutations have been identified in GCPS patients with normal karyotypes. Both PHS and GCPS have polysyndactyly, abnormal craniofacial features and are inherited in an autosomal dominant pattern, but they are clinically distinct . The polydactyly of GCPS is commonly preaxial and that of PHS is typically central or postaxial. No reported cases of GCPS have hypothalamic hamartoma and PHS does not cause hypertelorism or broadening of the nasal root or forehead. The co-localization of the loci for PHS and GCPS led us to investigate as a candidate gene for PHS. Herein we report two PHS families with frameshift mutations in

35. Listings Of The World Health Conditions And Diseases Genetic National Library of Medicine Post Review pallisterhall syndrome,its synonyms, a summary and a list of major features. http//www http://listingsworld.com/Health/Conditions_and_Diseases/Genetic_Disorders/Pallis

36. Listings Of The World Health Conditions And Diseases Genetic Nail Patella Syndrome (10) Noonan Syndrome (7) Opitz Syndrome (6) Organizations (8)Pallister Killian Mosaic Syndrome (4) pallisterhall syndrome (7) Personal http://listingsworld.com/Health/Conditions_and_Diseases/Genetic_Disorders/

37. Medicalseek - Search Engine For The Healthcare Industry Conditions and DiseasesGenetic Disorderspallisterhall syndrome National Libraryof Medicine pallister-hall syndrome, its synonyms, a summary and a list of http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders_Pallister_H

CATEGORIES ADD A LINK ADVERTISE CONTACT US ... Genetic Disorders Pallister-Hall Syndrome Conditions and Diseases:Genetic Disorders:Pallister-Hall Syndrome National Library of Medicine Pallister-Hall syndrome, its synonyms, a summary and a list of major features. nlm.nih.gov/mesh/jablonski/syndromes/sy... NORD - Pallister Hall Syndrome Offers the synonyms, a general discussion and further resources. stepstn.com/cgi-win/nord.exe?proc=Redir... Pallister-Hall Foundation (Australia) Resource and reference about Pallister-Hall Syndrome. pallisterhall.com Pallister-Hall Syndrome [PHS]: A Layman's Guide Resources for PHS patients, their carers, specialists, and medical practitioners. geocities.com/ghelon/pallister-hall/ind... Pallister-Hall Syndrome: A Layman's Guide PHS, its causes,symptoms, the abnormalities, findings, diagnosing, treatment together with Dictionary of Abbreviations and Terms for Patients. geocities.com/ghelon/pallister-hall.htm... Yahoo! Groups : Pallister-Hall Syndrome Details and instructions for joining, posting and reading the mail for this email support group. groups.yahoo.com/group/pallister-hall_syndr...

38. Medicalseek - Search Engine For The Healthcare Industry Noonan Syndrome Category Opitz Syndrome Category Organizations Category PallisterKillian Mosaic Syndrome Category pallisterhall syndrome Category Personal http://www.medicalseek.net/Conditions_and_Diseases_Genetic_Disorders.html

CATEGORIES ADD A LINK ADVERTISE CONTACT US ... Conditions and Diseases Genetic Disorders Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Dr. Greene's HouseCalls A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. drgreene.com/html/21614.html Gene Clinics Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. geneclinics.org Genetic Disorders: The Links to Diet Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy and homocystinuria and cystic fibrosis. mindspring.com/~sandysimmons/genetic_di... Genetic and Rare Conditions Site Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. kumc.edu/gec/support/

39. URS Mutational Spectrum of pallisterhall syndrome. Haley Naik, ChristinaKilloran, Isabelle Olivos-Glander, Leslie G. Pallister-Hall http://www.uic.edu/orgs/urs/abstracts/2001/37.html

Why An Undergraduate Research Symposium? Past Winners 2002 Abstract Winners Boooklet (PDF) 2001 Abstract Winners ... Pictures Undergraduate Research Symposium 2001 Abstract Winners Mutational Spectrum of Pallister-Hall Syndrome Haley Naik, Christina Killoran, Isabelle Olivos-Glander, Leslie G Pallister-Hall syndrome (PHS) is a pleiotropic disorder of human development that comprises hypothalamic hamartoma, central polydactyly, and other malformations. It is inherited as an autosomal dominant trait and the proposed site for genetic mutations leading to the onset of disease has been mapped to the GLI3 gene on 7p13. In order to identify and analyze the mutations responsible for the disease, DNA samples from 52 patients were collected and mutation analysis was conducted, consisting of semiautomated (ABI 371) sequencing the 14 exons (exons 2-15) of GLI3 and using Sequencher to analyze sequence. Mutations had been found in 20 of the 52 patients, the majority of which centered on exons 13, 14 and the beginning of exon 15. Two DNA samples from the remaining 33 patients had been completely sequenced and no mutations were found in any of the 14 exons. <300bp of sequence were collected). This project yielded the completion of mutation analysis of four of the remaining 31 patients. No mutations were found on GLI3 for these patients. Thirteen of the remaining 31 patients are near completion, with 1-5 exons that require sequencing analysis to be completed. Seven of the 31 patients require significant sequencing work to be completed, and DNA for 5 patients needs to be recollected since original stocks have been depleted. In total, mutations have been found in 20 of the 52 patients, 6 of the remaining 31 patients have been completely sequenced and analyzed with no mutations on GLI3 to report. The remaining 25 patients still require additional sequencing work in order to be completed.

40. GLI3 2. CD972242, 670, CCGACT^CAGGgAGCCCTTGGT, pallisterhall syndrome, 3.CD972243, 674, AGCCCTT^GGTgAGCAGCAGGA, pallister-hall syndrome, 3. CD972244, http://www.uwcm.ac.uk/uwcm/mg/ns/4/119990.html

Small deletions Accession Number Location/ codon Deletion Phenotype Reference ACCTT^CAGACcATGATAAGGA Greig cephalopolysyndactyly syndrome GACCATG^ATAaGGACGTCTCC Greig cephalopolysyndactyly syndrome TTCCAAT^GAG_E11I11_gtAAGCATCCTC Greig cephalopolysyndactyly syndrome CCGACT^CAGGgAGCCCTTGGT Pallister-Hall syndrome AGCCCTT^GGTgAGCAGCAGGA Pallister-Hall syndrome TTGCT^TTGCAaGCCAGGAGAA Postaxial polydactyly A GCCCGCC^CAGcagTACCGCCTCA Greig cephalopolysyndactyly syndrome GGGCCAC^GGCgTGAGGAGGGC Pallister-Hall syndrome GTCAGC^TCCGgAAGCGCCGAC Greig cephalopolysyndactyly syndrome AACAGC^CCCGgAAGTGGCACC Postaxial polydactyly A/B TCAGT^CAGCAaGACACGAAAG Greig cephalopolysyndactyly syndrome References 1 - Kalff-Suske (1999) Hum Mol Genet 2 - Kalff-Suske (2000) Hum Genet ... Am J Hum Genet HGMD

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