61. UNSW Embryo- Select Pituitary Entries From OMIM 146510 pallisterhall syndrome; PHS 241540 HYPOPITUITARISM, CONGENITAL, WITHCENTRAL DIABETES INSIPIDUS *236100 HOLOPROSENCEPHALY 1, ALOBAR; HPE1 http://embryology.med.unsw.edu.au/OMIMfind/endocrine/pitlist.htm

UNSW Embryology DEVELOPMENT OF THE ENDOCRINE SYSTEM- Pituitary Embryology Home Page Page Links: Pituitary About Notes Other Pages: Pituitary Development Endocrine Development Endocrine Histology OMIM Endocrine Selected ... search OMIM Introduction Below are entries from a search of the Online Mendelian Inheritance in Man database. Clicking on the entry number will show the complete entry (see sample Heading List ) and links to other databases (see Database List top of page Pituitary 219 entries found, searching for "pituitary" POU DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1; POU1F1 PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 1; PITX1 PITUITARY DWARFISM IV PROPHET OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR; PROP1 GROWTH HORMONE 1; GH1 HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PITX2

62. The Laryngoscope - UserLogin pallisterhall syndrome has no specific inheritance pattern and is associated Although pallister-hall syndrome may be associated with LTEC and an absent http://www.laryngoscope.com/pt/re/laryngoscope/fulltext.00005537-200308000-00010

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63. Pallister-Hall Syndrome Phenotype In Mice Mutant For Gli3 -- Böse Et Al. 11 (9) Pallister–Hall syndrome (PHS; MIM146510) was first described in 1980 and represents a Patients with this syndrome has been shown to be heterozygous for http://hmg.oxfordjournals.org/cgi/content/full/11/9/1129

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (14) Request Permissions PubMed PubMed Citation Human Molecular Genetics, 2002, Vol. 11, No. 9 Oxford University Press Lars Grotewold and ABSTRACT TOP ABSTRACT INTRODUCTION RESULTS DISCUSSION MATERIALS AND METHODS REFERENCES Mutations in the gene have been identified in several human malformation syndromes. One of these autosomal dominant developmental which is associated with central polydactyly and other malformations. Interestingly, the mutations in the transcription factor gene identified in patients with PHS are restricted to the region 3' of the zinc finger-encoding domain, leaving this DNA-binding

64. Pallister-Hall Syndrome Phenotype In Mice Mutant For Gli3 -- Böse Et Al. 11 (9) Pallister–Hall syndrome phenotype in mice mutant for Gli3. Jens Böse {dagger} ,Lars Grotewold and Ulrich Rüther*. Institute for Animal Developmental and http://hmg.oxfordjournals.org/cgi/content/abstract/11/9/1129

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text FREE Full Text (PDF) Alert me when this article is cited ... Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (14) Request Permissions PubMed PubMed Citation Human Molecular Genetics, 2002, Vol. 11, No. 9 Oxford University Press Lars Grotewold and Mutations in the gene have been identified in several human malformation syndromes. One of these autosomal dominant developmental which is associated with central polydactyly and other malformations. Interestingly, the mutations in the transcription factor gene identified in patients with PHS are restricted to the region 3' of the zinc finger-encoding domain, leaving this DNA-binding domain intact. We have investigated the consequences of this mutation on the development of multiple organ systems by introducing a targeted mutation in mice. We found that mice homozygous for

65. Hedgehog Signaling Pathway Database: Index Of Hedgehog Pathway Diseases, Genetic pallisterhall syndrome, gli3, GeneTests,UW OMIM, Kang et. al. (1997) NatureGenet. 15 266-268. Grieg Cephalopolysydactyly (GCPS). OMIM, Kang et. al. http://iguana.sfsu.edu/disease.html

Hedgehog Signaling Pathway Database MENU: Home About Project Overview About Us Contact Us Links Hh Pathway Hh Overview Hh Models Genes in Pathway All Genes in Pathway Genes in Hedgehog Production Genes in Hedgehog Reception Hedgehog Transcriptional Response ... Reagents Index: Hedgehog Pathway-associated Diseases Disease/Genetic Disorder Tissue affected Gene General Information Molecular Information References Acrocapitofemoral Dysplasia (ACFD) skeletal ihh OMIM Hellemans et. al. (2003) Am. J. Hum. Genet. 72: 1040-1046 Brachydactyly,Type A1 (BDA1) Limbs ihh OMIM Gao et. al. (2001) Nature Genet. 28: 386-388 Breast Cancer Breast National Cancer Institute OMIM Kubo M. et.al. (2004) Cancer Res. 64:6071-6074 Coloboma,Ocular Eye shh OMIM Schimmenti et. al. (2003) Am. J. Med. Genet. 116: 215-221, Coloboma Uveoretinal Coloboma of Iris,Choroid and Retina (COI) Desmosterolosis shh,ihh,dhh OMIM Enchondromatosis, Multiple Maffucci Syndrome Bone OMIM Hopyan et al. (2002) Nat Genet. 30:306-10 Osteochondromatosis OMIM Dyschondroplasia OMIM Ollier Disease OMIM Esophageal Cancer Esophagus National Cancer Institute OMIM Watkins and Peacock (2004) Biochem Pharmacol. 68:1055-60

66. Smith’s Recognizable Patterns Of Human Malformation, 6th Edition MeckelGruber Syndrome pallister-hall syndrome X-Linked Hydrocephalus SpectrumHydrolethalus Syndrome Walker-Warburg Syndrome Miller-Dieker Syndrome http://www.intl.elsevierhealth.com/catalogue/titleprint.cfm?ISBN=0721606156

67. Level II Ultrasound:The Fetal Skeletal System pallisterhall syndrome. Features/OMIM; UK Human Genome Mapping Project ResourceCentre; Information; GeneClinics; Patient Information http://www.perinatology.com/ultrasound/skeletal.htm

perinatology.com Level II Ultrasound: The Fetal Skeletal System Return to Homepage Translate Site Map Agencies and Organizations Calculators Critical Care Exposures Chemicals Drugs Infection Physical Agent ... About us Ultrasound Menu General Skeletal Aase Syndrome Achondrogenesis Achondroplasia Acromesomelic Dysplasia Acromicric Dysplasia Adams-Oliver Syndrome Apert Syndrome Arthrogryposis Asphyxiating Thoracic Dystrophy Atelosteogenesis Baller-Gerold Campomelic Dysplasia Carpenter Syndrome Caudal Regression Cerebro-costo-mandibular Syndrome Cleidocranial Dystosis Chondroectodermal Dysplasia Chondrodysplasia Punctata Craniosynostosis Dappled Diaphyseal Dysplasia De Lange Syndrome Diastrophic Dysplasia Duane Anomaly Dyssegmental Dysplasia Ellis-Van Creveld Syndrome Fanconia Pancytopenia Femoral Duplication Femoral Hypoplasia Femur-Fibula-Ulna Complex Fibrochondrogenesis Fibular Dysplasias Goldenhar Syndrome Holt-Oram Syndrome Hypochondroplasia Hypophosphatasia IVIC Syndrome Jarcho-Levin Syndrome Juberg-Hayward Syndrome Klippel-Feil Syndrome Kniest Syndrome Langer Mesomelic Dysplasia Levy-Hollister Syndrome Melnick-Needles Osteodysplasty Metatropic Dysplasia Mesomelic Dysplasia Miller Syndrome Moebius Sequence Nager Syndrome Osteogenesis Imperfecta Oto-palato-digital Syndrome Type II Pallister-Hall Syndrome Pena-Shokeir Phenotype Pfeiffer Syndrome Pierre Robin Syndrome Pillay Syndrome Poland Syndrome Reinhardt-Pfeiffer Mesomelia Roberts Syndrome Rothmund-Thomson Syndrome Sacral Agnesis/Spina Bifida Seckel Syndrome Schnizel-Giedion

68. GPP - Viewbook Page For Biesecker, Leslie We have determined the molecular abnormality of pallisterhall syndrome, showingthat it is GLI3 frameshift mutations cause the pallister-hall syndrome. http://gpp.nih.gov/Researchers/Members/NHGRI/LeslieBiesecker.htm

Search: Contact Us Site Index FAQs Back to home ... University Partners Back to: GPP home Researchers Members National Human Genome Research Institute (NHGRI) Biesecker, Leslie Leslie Biesecker M.D., University of Illinois, 1983 National Institutes of Health 9000 Rockville Pike NHGRI Building 49 / Room 4A80 Bethesda, Maryland 20892-4472 Phone Number: Fax Number: Email Address: leslieb@helix.nih.gov Web Site: http://www.nhgri.nih.gov/Intramural_research/People/biesecker.html Research Interest(s) Developmental Biology / Reproduction 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. The main areas of research in the lab are investigations into Pallister-Hall Syndrome (PHS), McKusick-Kaufmann syndrome, Oral-Facial-Digital syndrome type VI, and Greig cephalopolysyndactyly syndrome. These disorders are single-gene human developmental anomaly syndromes that cause birth defects of variable severity. We are using classical positional cloning techniques to isolate the cause of these disorders, perform genotype-phenotype correlations, and clinical studies to determine the range of severity and overlap among these disorders. We have determined the molecular abnormality of Pallister-Hall syndrome, showing that it is allelic to Greig cephalopolysyndactyly syndrome and a form of simple polydactyly. Studies are under way to characterize the molecular mechanism that leads to the development of three distinct phenotypes from alterations in a single gene, GLI3.

69. The American Journal Of Surgical Pathology - UserLogin Hypothalamic hamartoma and the pallisterhall syndrome. Pediatr Neurosurg 1995;22303-8. Medline Link Context Link. 22. Takeuchi J, Handa H. Pubertas http://www.ajsp.com/pt/re/ajsp/fulltext.00000478-199812000-00011.htm

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70. Health Library - Human protein Q75MT0 Hypothetical protein GLI3 (Fragment). EMBL Disease, defects in gli3 are a cause of pallister-hall syndrome (phs) mim146510.Disease, defects in gli3 are a cause of type a1/b postaxial polydactyly http://12.42.224.150/library/healthguide/en-us/illnessconditions/topic.asp?hwid=

71. Holoprosencephaly. Thomas NA, Cherian A, Sridhar S J Postgrad Med of multiple malformation syndromes like Meckel’s syndrome, Oralfacial-digitalsyndrome type VI, pallister-hall syndrome and Smith-Lemli-Opitz syndrome. http://www.jpgmonline.com/article.asp?issn=0022-3859;year=2003;volume=49;issue=2

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

Where to Start About ABC@F Press Child Care for the '90' - Owner's Manual Links ... Contact Us ChildHealthInformation Center - The Online Database A B C D ... Z Please click on the "box below" to view the following topics. P Part I PACHYGIRIA PACIFIERS PAIN PAIN, CHRONIC PALLISTER-HALL SYNDROME PALLISTER-KILLIAN SYNDROME PANCREATIC INSUFFICIENCY WITH NEUTROPENIA PARALYSIS AND SPINAL CORD INJURY P Part II Please click on "parenting" to view that topic. PARENTING Please click on the "box below" to view the following topics. P Part III PATHOLOGY PDD PEDICULOSIS PEPCK DEFICIENCY PERSONALITY DISORDERS PERVASIVE DEVELOPMENTAL DISORDER (PDD) PESTICIDES Please click on the "box below" to view the following topics. P Part IV PETS PEUTZ-JEGHERS SYNDROME PHENYLKETONURIA (PKU) PHOBIAS PHOSPHORYLASE B KINASE DEFICIENCY PHOSPHORYLASE DEFICIENCY PHYSICIANS PIERCING PIERRE ROBIN SYNDROME PITUITARY DISORDERS PITUITARY GLAND PITUITARY TUMORS Please click on the "box below" to view the following topics. P Part V PLANTS PLASTIC SURGERY PLAY POISON IVY POISONING POLIO POLITICS POLYCYSTIC KIDNEY POLYMYOSITIS POLYPOSIS POLYPOSIS, FAMILIAL

73. Health Library - Vindex zoekresultaten voorpallister-hall syndrome, its synonyms, a summary and a list of major features . NORD Pallister Hall Syndrome. Offers the synonyms, a general discussion http://12.31.13.113/library/healthguide/en-us/illnessconditions/topic.asp?hwid=n

74. Bioline International Official Site (site Up-dated Regularly) Meckel s syndrome, Oralfacial-digital syndrome type VI, pallister-hall syndromeand Smith-Lemli-Opitz syndrome.1 About 1-2% of infants born to diabetic http://www.bioline.org.br/request?jp03046

75. Zentrum Fr Humangenetik KalffSuske, Martha Gene symbol GLI3-disease pallister-hall syndrome Humangenetics. - 107.2000. - S. 203. Koch, Manuela C. Myotone Syndrome http://www.med.uni-marburg.de/stpg/fb20/dekanat/forsch/Bibliogr2000/druck_medli6

next prev prev-tail tail ... up Zentrum f Abteilung I: Allgemeine Humangenetik Originalarbeiten Biederbick, Annette u. Chr. Kosan, J. Kunz, H.-P. Els First apyrase splice variants have different enzymatic properties Journal of biological chemistry. - 275.2000. - S. 19018-19024. Busse, K. u. J. K H. Schreiber An inherited 4q35-EcoRI-DNA-fragment of 35 kb in a family with a sporadic case of facioscapulohumeral muscular dystrophy (FSHD) Neuromuscular disorders. - 10.2000. - S. 178-181. Derst, Christian u. H. Engel, K.-H. Grzeschik, J. Daut Genomic structure and chromosome mapping of human and mouse RAMP genes Cytogenetics and cell genetics. - 90.2000. - S. 115-118. Di Pietro, C. u. A. Rapisarda, V. Amico, C. Bonaiuto, A. Viola, M. Scalia, S. Motta, A. Amato, H. Engel, A. Messina, G. Sichel, K.H. Grzeschik, M. Purello Genomic localization of the human genes TAF1A, TAF1B and TAF1C, encoding TAF I 48, TAF I 63 and TAF I 110 subunits of class I general transcription initiation factor SL1 Cytogenetics and cell genetics. - 89.2000. - S. 133-136. Happle, Rudolf

76. Pallister-Hall Syndrome Conditions-and-diseases-genetic-disorders-pallister-hall NORD Pallister Hall Syndrome. Offers the synonyms, a general discussion pallisterhall syndrome, its synonyms, a summary and a list of major features. http://www.health-websites.info/i_conditions-and-diseases-genetic-disorders-pall

home sitemap suggest url LOCATION HOME Conditions and Diseases Genetic Disorders Pallister-Hall Syndrome Pallister-Hall Syndrome 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/ Pallister-Hall Syndrome: A Layman's Guide For PHS patients, their care givers, and medical practitioners. http://www.pallisterhall.com/ NORD: Pallister Hall Syndrome Offers the synonyms, a general discussion and further resources. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pallister%20Hall%20Syndrome 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 Other health categories: L?wchen Mountain Cur Newfoundland Patterdale Terrier ... American Wirehair Consulting health search terms used on this site: a b c d ... z Partner Sites: Advice Websites Arts Websites Beauty Websites Cooking Websites ... www.health-websites.info

77. ORPHANET - Maladies Rares - Médicaments Orphelins Translate this page Le syndrome de pallister-hall est dû à des mutations du gène GLI3 apparaissantentre le domaine à doigts de zinc et le site de clivage protéolytique. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=672

78. Search Jablonski's Syndromes Database NORD Pallister Hall SyndromeNational Organization for Rare Disorders is dedicated to helping people withrare, orphan diseases. Rarediseases.org contains information on the prevention, http://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Hall syndrome 2&field=nam

79. Pallister Hall Syndrome Pallister Hall syndrome (PHS) is an extremely rare genetic disorder that maybe apparent at birth (congenital). http://my.webmd.com/hw/health_guide_atoz/nord1016.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in Medical Library Our Content Sources Ask A Question Clinical Trials Health Guide A-Z Health Topics Symptoms Medical Tests Medications ... For a Complete Report Pallister Hall Syndrome Important It is possible that the main title of the report Pallister Hall Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Hall-Pallister Syndrome PHS Congenital hypothalamic hamartoblastoma syndrome CAVE (cerebro-acro-visceral early lethality) complex Disorder Subdivisions None General Discussion Resources American Brain Tumor Association 2720 River Road Suite 146 Des Plaines, IL 60018 USA Tel: 8478279910 Fax: 8478279918 Tel: 8008862282 Email: info@abta.org

80. PALLISTER HALL SYNDROME: Contact A Family - For Families With Disabled Children: Contact a Family is a UK charity for families with disabled children. We offerinformation on specific conditions and rare disorders. http://www.cafamily.org.uk/Direct/p07.html

printer friendly PALLISTER HALL SYNDROME home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no Pallister-Hall syndrome: Ano-Cerebro-Digital syndrome; CAVE Lethality Multiplex syndrome; Cerebro-Acro-Visceral Early Lethality Multiplex syndrome; Hypothalamic Hamartoblastoma syndrome Children with this syndrome are born with congenital malformations of: The brain - typically there is a tumour called a hamartoma or hamartoblastoma of the hypothalamus; this is adjacent to the pituitary gland, the function of which is impaired, and there may be other brain malformations as well. The anus (back passage) - The imperforate anus, or anal stenosis results in the newborn baby being unable to pass stools. This can readily be dealt with by a surgical operation to make a proper opening to the outside. The hands - Typically there is an extra finger (polydactyly). The extra finger may in fact be very small and can easily be surgically removed. Sometimes instead there are other abnormalities of the hands. Some fingers may be partly joined together (syndactyly). This can be put right by surgery. Sometimes there are other abnormalities of the fingers, for example they may be rather short. The pituitary gland is a kind of outgrowth from the brain, situated beneath it. The posterior or back part of the pituitary gland produces a hormone which regulates how the body handles water. If it is not functioning adequately then the body cannot retain water properly, a condition known as diabetes insipidus (see entry

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