41. GLI3 Greig cephalopolysyndactyly syndrome, 16, 8, 0. Postaxial polydactylyA/B, 2, 1, 0. pallisterhall syndrome, 1, 3, 0. Postaxial polydactylyA, 0, 1, 0. http://www.uwcm.ac.uk/uwcm/mg/search/119990.html

GLI-Kruppel family submember GLI3 (Greig cephalopolysyndactyly syndrome) Gene symbol : GLI3 Location : 7p13 Mutations in this gene were first reported in 1997 Wild (1997) Hum Mol Genet Kang (1997) Nat Genet Radhakrishna (1997) Nat Genet Number of entries by mutation type Click on the respective mutation type to view detailed information about the mutations as logged in HGMD. Mutation type Total number of mutations Nucleotide substitutions (missense / nonsense) Nucleotide substitutions (splicing) Nucleotide substitutions (regulatory) Small deletions Small insertions Small indels Gross deletions Complex rearrangements (including inversions) Repeat variations TOTAL Number of entries by phenotype Phenotype Nucleotide substitutions Micro-lesions Gross lesions Greig cephalopolysyndactyly syndrome Postaxial polydactyly A/B Pallister-Hall syndrome Postaxial polydactyly A ... Postaxial polydactyly IV Clicking on the respective phenotype will start a search for that item at the OMIM web site. As HGMD only records the first literature report of a mutation, the possibility that reported mutations may be responsible for more than one disease state cannot be ruled out. Associated data - Mutation map cDNA sequence HGMD options - HGMD search HGMD help HGMD home External sites - OMIM entry for GLI3 GDB entry for GLI3 GenAtlas entry for GLI3 Nomenclature entry for GLI3 ... LocusLink entry for GLI3 HGMD

42. Pallister-Hall Syndrome Website Results :: Linkspider UK pallisterhall syndrome Websites from Linkspider UK. Keyword Pallister-HallSyndrome. Linkspider UK Directory pallister-hall syndrome Search for. http://www.linkspider.co.uk/Health/ConditionsandDiseases/GeneticDisorders/Pallis

Pallister-Hall Syndrome Websites from Linkspider UK Keyword: Pallister-Hall Syndrome Linkspider UK Directory Pallister-Hall Syndrome Search for Directory Tree: Top Health Conditions and Diseases Genetic Disorders : Pallister-Hall Syndrome (6) Add URL Advertise Here! Personalize Amazon ... Weather See Also: Health: Conditions and Diseases: Rare Disorders 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. Pallister-Hall Syndrome [PHS]: A Layman's Guide - Resources for PHS patients, their carers, specialists, and medical practitioners.

43. Johns Hopkins Bloomberg School Of Public Health Faculty - Leslie Biesecker, Heal The multiple congenital anomaly syndromes include pallisterhall syndrome; Greigcephalopolysyndactyly syndrome; McKusick-Kaufman syndrome; Bardet-Biedl http://commprojects.jhsph.edu/faculty/?F=Leslie&L=Biesecker

44. Major Publication_korean Patronas N, Ondrey F, Green E, Schaffer A, Abbott M, Biesecker LG (1997) Linkagemapping and phenotypic analysis of autosomal dominant pallisterhall syndrome. http://biotech.korea.ac.kr/member/skang/major.html

Hong S, Kim S-J, Ka S, Choi I and Kang S (2002) USP7, Ubiquitin-Specific Protease, Interacts with Ataxin-1, the SCA1 Gene Product. Mol Cell Neurosci. 20:298-306 Lee S-J, Choi J-Y, Sung Y-M, Park H, Rhim H, and Kang S (2001) E3 ligase activity of RING finger proteins that interact with Hip-2, a human ubiquitin-conjugating enzyme. FEBS Letter Bae Y, Kim H, Namgoong H, Baek B, Lee J, Hwang D, Hwang Y, Ahn C and Kang S (2001) Characterization of microsatellite markers adjacent to AP-4 on chromosome 16p13.3. ... Kor. J. Microbiol. Park, Rhim H, Bok K-S, Chang M-J, Kim I-K, Park SS, Kang S (1998) Polyglutamine residues from Machado-Joseph disease gene enhance formation of aggregates of GST-polyglutamine fusion protein in E. coli

45. SpringerLink: Human Genetics - Abstract Volume 101 Issue 2 (1997) Pp 154-157 Haploinsufficiency of this gene has been associated with the Greig cephalopolysyndactylysyndrome and truncation mutations cause pallisterhall syndrome. http://link.springer.de/link/service/journals/00439/bibs/7101002/71010154.htm

Human Genetics ISSN: 0340-6717 (printed version) ISSN: 1432-1203 (electronic version) Table of Contents Abstract Volume 101 Issue 2 (1997) pp 154-157 Gene structure and allelic expression assay of the human gene S. Kang, Marjorie Rosenberg, Victor D. Ko, L. G. Biesecker Laboratory of Genetic Disease Research, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 4A80, Bethesda, MD 20892-4472, USA Tel.: +1-301-402-2041; Fax: +1-301-402-2170 e-mail: leslieb@helix.nih.gov Received: 29 May 1997 / Accepted: 14 July 1997 Abstract The gene encodes a putative zinc finger transcription factor that is important in early vertebrate development. Haploinsufficiency of this gene has been associated with the Greig cephalopolysyndactyly syndrome and truncation mutations cause Pallister-Hall syndrome. In the course of studies to determine the etiology of Pallister-Hall syndrome, we required knowledge of the fine structure of to perform detailed genetic and physical mapping and mutation screening of this gene. The coding region of is composed of 14 exons, including a large exon of more than 2500 bp. In addition, the gene contains two intragenic dinucleotide repeats, and four single-base pair polymorphisms in the coding region. We have used these coding region polymorphisms to design an allele-specific expression study that will be useful for studying patients with Greig cephalopolysyndactyly syndrome. In addition

46. NIH Study Category Listing (21): Genetics Phenotype and Etiology of pallisterhall syndrome. Microarray Analysis forHuman Genetic Disease. Last updated February 28, 2003 at 35247 PM. http://www.centerwatch.com/patient/nih/nihcat21.html

About the NIH Clinical Center NIH Clinical Trials Search Page Return to NIH Listings Menu Non-NIH Trial Listings ... Additional resources NIH Studies: Genetics Below is a listing of government-funded clinical trials in Genetics, being conducted by the various National Institutes of Health at the Warren Grant Magnuson Clinical Center in Bethesda, MD. Click on a study summary to view the study description and contact information directly from the NIH's web site. Molecular Analysis of Microphthalmia/Anophthalmia Genetic Linkage Analysis in Developmental Stuttering: Gene Mapping in Extended Kindreds and Candidate Gene Analyses Definition of the Genotype and Clinical Phenotype of Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and its Associated Conditions (Carney Complex) Phenotype and Etiology of Pallister-Hall Syndrome ... Treatment of SCID due to Adenosine Deaminase Deficiency with Autologous Cord Blood or Bone Marrow CD34+ Cells Transduced with a Human ADA Gene Last updated: March 28, 2003 at 2:41:17 PM Patient Resources: [ Trial Listing Notification Services Drug Directories About Clinical Research ... Patient Bookstore Professional Resources: [ Research Center Profiles Industry Provider Profiles Industry News Professional Resources ... Professional Bookstore General: [ Search Site Map Your Privacy CW World ... Home This site was developed in association with Illumina Interactive of Boston, MA

47. Electricbrain Home: Index: Health: Conditions And Diseases: Genetic Disorders Magenis Syndrome Shwachman Syndrome Proteus Syndrome Popliteal Pterygium SyndromePallister Killian Mosaic Syndrome pallisterhall syndrome Noonan Syndrome, http://www.electricbrain.com/index/Health/Conditions_and_Diseases/Genetic_Disord

electricbrain Index Health Conditions and Diseases : Genetic Disorders home index write privacy ... Noonan Syndrome Famous quotes: Your reasoning is excellent it's only your basic assumptions that are wrong. Find someone: Old Friends New Friends Lost Love New Love ... privacy

48. ClinicalTrials.gov - Linking Patients To Medical Research: Browse: P recruiting). 2. Pain (67 studies recruiting). 3. pallisterhall syndrome(1 study recruiting). 4. Pancreatic Diseases (76 studies recruiting). http://clinicaltrials.gov/ct/gui/screen/BrowseAny?recruiting=true&path=/browse/b

49. Links: Health: Rare Disorders- Alabama Council For Developmental Disabilities Opitz Syndrome; Osteogenesis Imperfecta; Pallister Killian Mosaic Syndrome;pallisterhall syndrome; Pemphigoid; Pemphigus; Phenylketonuria; http://www.acdd.org/Links/conditions/Rare_Disorders.htm

You are here: Home Links Conditions Rare Disorders Rare Disorders Home About Definition Planning ... Search On this page: General Disorders General Cherubs - A non-profit support group for the families and medical care providers of children and adults born with Congenital Diaphragmatic Hernia. Contact a Family - Information about this organization as well as the CaF directory of specific conditions and rare disorders. Also details about the Rare Disorders Alliance - UK. Fibrous Dysplasia Support Online - For those seeking support and information concerning the rare bone diseases: fibrous dysplasia, McCune Albright Syndrome and Cherubism. Human Growth Foundation - Information about growth-related disorders through education, research, and advocacy. Member driven organization. International Rare Disease Support Network - A community providing more than a 1000 different links to support groups for the people of all nations. Kindler Syndrome - An article and case study of this rare disease. Includes links. National Organization for Rare Disorders, Inc.

50. Limb Deformities, Congenital Therapy Diagnosis; MCKUSICKKAUFMAN SYNDROME; MCKUSICK-KAUFMAN SYNDROME;MKKS; pallister-hall syndrome; PHS; Polydactyly, hands with http://www.ohsu.edu/cliniweb/C16/C16.131.621.585.html

Limb Deformities, Congenital Back to previous level Ectromelia Search PUBMED for Ectromelia: All Review Therapy Diagnosis Foot Deformities, Congenital Search PUBMED for Foot Deformities, Congenital: All Review Therapy Diagnosis ... Vertical talus: Washington U. Hand Deformities, Congenital Search PUBMED for Hand Deformities, Congenital: All Review Therapy Diagnosis ... Polydactyly [1 more specific term/s, more link/s] Search PUBMED for Polydactyly: All Review Therapy Diagnosis ... Polydactyly: Washington U. Proteus Syndrome Search PUBMED for Proteus Syndrome: All Review Therapy Diagnosis ... Syndactyly [2 more specific term/s, 4 more link/s] Search PUBMED for Syndactyly: All Review Therapy Diagnosis ... Syndactyly: Washington U. Thanatophoric Dysplasia Search PUBMED for Thanatophoric Dysplasia: All Review Therapy Diagnosis

51. Conditions And Diseases P Treasure Coast Health T / U / V / W / X / Y / Z. Pain@ (45); Pallister Killian Mosaic Syndrome@(3); pallisterhall syndrome@ (4); Pancreatic Cancer@ (31); http://treasurecoasthealth.com/treasurecoasthealth.php/Health/Conditions_and_Dis

52. Search 2 Uff PACHYDERMOPERIOSTOSIS, RN0620, 757.39, pallisterhall syndrome, RN1030,759.89, 146510. PALLISTER-KILLIAN SYNDROME, RN1590, 758.5, 601803. http://malattierare.pediatria.unipd.it/cerca_ing/cerca_2_uff.asp?parola=p

53. Open Directory & Pay Per Click Search Engine: Health/Conditions And Diseases/Gen LINKS National Library of Medicine pallisterhall syndrome, its synonyms,a summary and a list of major features. http//www.nlm http://www.searchpixie.com/Health/Conditions_and_Diseases/Genetic_Disorders/Pall

Need Traffic TrafficGiveAway.com Search the Web Home Toolbar LinkManager bookmark ... Genetic Disorders : Pallister-Hall Syndrome LINKS: National Library of Medicine Pallister-Hall syndrome, its synonyms, a summary and a list of major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome521.html NORD - Pallister Hall Syndrome Offers the synonyms, a general discussion and further resources. Pallister-Hall Foundation (Australia) Resource and reference about Pallister-Hall Syndrome. http://pallisterhall.com Pallister-Hall Syndrome [PHS]: A Layman's Guide Resources for PHS patients, their carers, specialists, and medical practitioners. http://www.geocities.com/ghelon/pallister-hall/index.html 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. http://www.geocities.com/ghelon/pallister-hall.html Yahoo! Groups : Pallister-Hall Syndrome Details and instructions for joining, posting and reading the mail for this email support group. http://groups.yahoo.com/group/pallister-hall_syndrome/

54. Veröffentlichungen Von Universitätsangehörigen FR 4.5 Neurochirurgie. Barbier, Dragos - ua Polysyndactyly and asymptomatic hypothalamichamartoma in mother and son a variant of pallister-hall syndrome. http://www.uni-saarland.de/z-einr/ub/uni-veroeff/B95/f4_5.htm

Jahresbibliographie 1995 FR 4.5 - Neurochirurgie Barbier, Dragos - u.a.: Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome. - In: Clinical Genetics. - 48 (1995), S. 209-212 Caspar, Wolfhard Donauer, Erich - u.a.: Hirnmetastasen des Urothelkarzinoms der Harnblase. - In: TumorDiagnostik und Therapie. - 16 (1995), S. 239-241 - u.a.: Microsurgery of cerebral lesions under stereotactic conditions. - In: Minim Invas Neurosurg. - 38 (1995), S. 117-122 - u.a.: Microsurgery of cerebral lesions under stereotactic conditions. - In: Minimally Invasive Neurosurgery. - 38 (1995), 3, S. 99-132 Eymann, Regina Feld, Robert - u.a.: Triple approach for diagnosis and grading of meningiomas: Histology, morphometry of Ki-67/Feulgen strainings, and Cytogenetics. - In: Acta Neurochirurgica. - 137 (1995), S. 174-181 Kiefer, Michael Moringlane, Jean Richard Moringlane, Jean-Richard Pitzen, Tobias Reif, Johannes - u.a.: Microsurgery of cerebral lesions under stereotactic conditions. - In: Minim Invas Neurosurg. - 38 (1995), S. 117-122 - u.a.: Microsurgery of cerebral lesions under stereotactic conditions. - In: Minimally Invasive Neurosurgery. - 38 (1995), 3, S. 99-132 - u.a.: Polysyndactyly and asymptomatic hypothalamic hamartoma in mother and son: a variant of Pallister-Hall syndrome. - In: Clinical Genetics. - 48 (1995), S. 209-212 Schwerdtfeger, Karsten

55. P Index PACIFIERS. PAIN. PAIN, CHRONIC. pallisterhall syndrome. PALLISTER-KILLIAN SYNDROME.PANCREATIC INSUFFICIENCY WITH NEUTROPENIA. PARALYSIS AND SPINAL CORD INJURY. http://www.childhealthinfo.com/pindex.htm

56. P Listing Part 1 pallisterhall syndrome (See also ANORECTAL MALFORMATIONS, PITUITARY DISORDERS).Pallister-Hall Foundation. RFD Box 3000, Fairground Rd. Bradford, VT 05033. http://www.childhealthinfo.com/pindexlist1.htm

57. Pallister-Hall Syndrome pallisterhall syndrome National Library of Medicine - http//www.nlm.nih.gov Pallister-Hallsyndrome, its synonyms, a summary and a list of major features. http://www.medlina.com/pallister-hall_syndrome.htm

Academic Medicine Addiction Aging AIDS-HIV ... Women's Health The Web MEDLINA.com (partial) CDC WHO FDA NIH CATEGORIES Search: All Products Books Magazines Popular Music Classical Music Video DVD Baby Electronics Software Outdoor Living Wireless Phones Keywords: Home Up Pallister-Hall Syndrome Pallister Killian Mosaic Syndrome Parry-Romberg Syndrome Pickwickian Disease Pierre Robin Syndrome ... Pseudoxanthoma Elasticum Pallister-Hall Syndrome National Library of Medicine - http://www.nlm.nih.gov Pallister-Hall syndrome, its synonyms, a summary and a list of major features. Yahoo! Groups : Pallister-Hall Syndrome - http://groups.yahoo.com Details and instructions for joining, posting and reading the mail for this email support group. SUBCATEGORIES Up powered by A merica M edica, I nc. info@medlina.com New York City

58. Malattie Rare E Genetiche Lettera "H" Hall Pallister Sindrome di•pallisterhall syndrome/PHS/Hypothalamic Hamartoblastoma,Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly•Hall http://utenti.lycos.it/fmfpc/H.htm

HOME FORUM Site Map / Mappa del sito FMFPC's International Guest/Book ... E-mail Dal 22 Marzo 2003 il server Lycos, che ospita le pagine FMFPC, subirà un *fermo tecnico*. Le pagine resteranno accessibili ma non verranno aggiornate per circa una settimana. - Tutti i servizi di FMFPC continueranno a funzionare. - È ora possibile accedere al sito anche attraverso l'indirizzo alternativo di FMFPC (sito mirror) all'URL http://digilander.libero.it/fmfpc/portale.htm ultimi aggiornamenti Elenco malattie rare e genetiche "lettera H" © 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 27 Gennaio 2003 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 ... G - H - I J K L ... legenda H Haas Chir Robinson Sindrome di Haas chir robinson syndrome Haas chir robinson syndrome de Hagemoser Weinstein Bresnick Sindrome di ... Hadju Cheney, Síndrome de

59. P P. Top Health Conditions_and_Diseases P Categories PCC Deficiency; @ POEMSSyndrome; @ Pain; @ pallisterhall syndrome; @ Pallister Killian Mosaic Syndrome; http://www.ad.com/Health/Conditions_and_Diseases/P/

search Top Categories: PCC Deficiency @ POEMS Syndrome @ Pain @ Pallister-Hall Syndrome ... @ Pyromania AD.COM Web Directory is based on ODP - Open Directory Project data. No proprietary software was used in the development of this web site. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

60. Indiana State University School Of Nursing Learning Resource Alliance Genetic Syndrome Support Groups Klinefelter's Syndrome National Centerfor Genome Resources Neurofibromatosis Online Service pallisterhall syndrome. http://www.indstate.edu/nurs/LRC/GLinks.html

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