61. Azmitia The loss or misfunction of Gli proteins appear to cause Greig's cephalopolysyndactylysyndrome (GCPS) and pallisterhall syndrome (PHS) and lead to http://www.med.nyu.edu/OIL/Therapeutics/dahmane.htm

Controlled regulation of Gli proteins can prevent brain tumor formation or enhances proliferation of normal precursor cells in the brain Principal Investigator: Nadia Dahmane, PhD and Ariel Ruiz i Altaba, PhD Developmental Genetics, Skirball Institute and Department of Cell Biology, New York University School of Medicine. Background Gli proteins are transcriptional activators that control cell fate, growth, and patterning in many cell types and most organs including the brain, bone, skin, gonads, and lungs. In unstimulated cells, several mechanisms ensure the active repression of Gli target genes. Activation of Gli genes occurs through the Hedgehog (Hh) signal-transduction. When Hh binds to the membrane receptor complex Patched-Smoothened (Ptc-Smo), Smo is released by its repressor, Ptc, and is allowed to signal, thereby leading to Gli protein function. The Hh-Gli pathway plays an essential role in normal development; however, deregulation of this pathway is responsible for several human diseases, syndromes, and malformations. Constitutively expressed Gli genes have been suggested as the causative agent of basal-cell carcinomas (BCC), rhabdomysosarcomas (RMS), medulloblastomas (MB), and brain tumors. The loss or misfunction of Gli proteins appear to cause Greig's cephalopolysyndactyly syndrome (GCPS) and Pallister-Hall syndrome (PHS) and lead to malformations seen in patients with post-axial polydactyly type A (PAP-A) defects. Therapeutic agents that ensure the proper regulation and expression of Gli proteins could prevent or treat many of these diseases.

62. Browsing Health Conditions And Diseases P Category Pain Pallister Killian Mosaic Syndrome pallisterhall syndrome Pancreatic CancerPancreatitis Panic Papillotonic Psuedotabes Parasitic Infections Paresthesia http://www.uksprite.com/search/search/Health/Conditions_and_Diseases/P/

/* CSS Menu highlight- By Marc Boussard (marc.boussard@syntegra.fr) Modified by DD for NS4 compatibility Visit http://www.dynamicdrive.com for this script */ var ns4class='' WebSearch Low-cost advertising at UKSprite Join Login @UK.Sprite Home Latest Headlines UK Weather World Weather ... UK Travel Guide Fun TV Guide Lotto e-Greetings Mobile Fun Communicate Email Login Get Free Email Free Text Messages Lifestyle Horoscopes Dating Recipes Health Shop DVD's Books Videos More... Deals Auctions Classified Ads Site Map Browsing: Health Conditions and Diseases P Top Health Conditions and Diseases P A B C D ... Z Categories: Pain Pallister Killian Mosaic Syndrome Pallister-Hall Syndrome Pancreatic Cancer ... Pyromania Last update: 13:54 PT, Tuesday, February 25, 2003 Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Latest UK Headlines More UK marines push on Basra Royal Marines close in on the southern city of Basra after securing a "stronghold" nearby after intense fighting. Push to stamp out gun crime The owners of illegal firearms are urged to hand them in without fear of prosecution as part of a nationwide amnesty. Ridsdale quits Leeds Peter Ridsdale steps down as Leeds chairman after nearly six years at the helm.

63. PALLISTER-HALL (ANO-CEREBRO-DIGITAL) SYNDROME Features Listed For pallisterhall (ANO-CEREBRO-DIGITAL) syndrome. McKusick146510. Absent fingers or oligodactyly; Absent or hypoplastic http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1301

64. MUMS List Of Disorders - H com; HallPallister syndrome (pallister-hall) (1)*; Hallermann-Streiffsyndrome (6) *; Hallervorden-Spatz Disease (13)*; Hallucinations http://www.netnet.net/mums/mum_h.htm

Return to MUMS Home Page MUMS: List of Disorders H Number in parentheses indicates number of matches. indicates there is a support group which covers that diagnosis. HELLP Syndrome (4) HIB Vaccine (bad reactions) (6)* HMG CoAlyase Deficiency (1) * Hair, Atrichia Congenita (1) Hair, Monileth (1) Hajdu-Cheney Syndrome (3) www.hajducheneysyndrome.com Hall-Pallister Syndrome (Pallister-Hall) (1)* Hallermann-Streiff Syndrome (6) * Hallervorden-Spatz Disease (13)* Hallucinations (6) Hands; 1 Foot Absent (1) * Hands Missing (Congenital) (5) * http://www.amp-info.net/ Hanging, Anoxic brain damage from (5) Hanhart Syndrome (2) Happy Puppet Syndrome (Angelman Syndrome) (69)* Hartnup Disorder (3) Hashimoto's Syndrome (2) Hay-Wells Syndrome (3) * Head Trauma (26)* Headaches, Chronic Non-Progressive, caused by stress (1) Hearing Impairment (439)* Hearing Loss-Unilateral (14)* Heart Block, Congenital (3)* Heart Defects (1231)* Heart Transplant (5) * Heart Transplant pending (8) Hemangiectatic Hypertrophy (Klippel-Trenaunay Syndrome) (28) ** Hemangioma, Cavernous and Capillary (9) *

65. The Contact A Family Directory - PALLISTER HALL SYNDROME printer friendly, PALLISTER HALL syndrome, http://www.cafamily.org.uk/Direct/p07.html

printer friendly PALLISTER HALL SYNDROME home more about us in your area conditions information ... how you can help search this site 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 separate entry

66. The Contact A Family Directory - Index C CADASIL CAH see Congenital Adrenal Hyperplasia CAIS see Androgen Insensitivity syndromeCATCH 22 see 22q11 Deletions CAVE see Pallister Hall syndrome CBD see http://www.cafamily.org.uk/Idx/c.html

printer friendly home more about us in your area ... how you can help search this site Please use the Index below to access the condition on which you require information. If you do not find what you want in the Index then try our search facility in the navigator on the left. Contact a Family also has information on many other specific conditions and rare disorders. If you cannot find the information you require in The Contact a Family Directory Online , you may wish to use our Contact a Family Helpline service. C1 Esterase Inhibitor Deficiency C1 Inhibitor Deficiency see C1 Esterase Inhibitor Deficiency CADASIL CAH see Congenital Adrenal Hyperplasia CAIS see Androgen Insensitivity Syndrome CATCH 22 see 22q11 Deletions CAVE see Pallister Hall Syndrome CBD see Corticobasal Degeneration CBPS see Congenital Bilateral Perisylvian Syndrome CD40 Ligand Deficiency see Primary Immunodeficiencies CDH see Congenital Dislocation and Developmental Dysplasia of the Hip CGD see Chronic Granulomatous Disorder CHARGE Association CHT see Thyroid Disorders CIDP see CLL see Leukaemia and other Allied Blood Disorders CML see Leukaemia and other Allied Blood Disorders CMN see Congenital Melanocytic Naevi CMT see Charcot-Marie-Tooth Disease CMV see Cytomegalovirus COFS see Cockayne Syndrome COPD see Lung Diseases COX see Metabolic Diseases and see Mitochondrial Cytopathies and Related Disorders CPD-choline phosphotrasferase deficiency see CPS Deficiency see Urea Cycle Disorders CPT I see Fatty Acid Oxidation Disorders CPT II see Fatty Acid Oxidation Disorders CVID see

67. NORD - National Organization For Rare Disorders, Inc. Pallister Hall syndrome. To purchase fulltext report ($7.50) Copyright 1994,1998 Synonyms of Pallister Hall syndrome Hall-Pallister syndrome; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pallister Hal

68. Page Not Found Osteogenesis imperfecta, type III. Osteogenesis imperfecta, type IV. PallisterHallsyndrome. Williams-Beuren syndrome. Chromosome 8. Branchiotorenal syndrome. http://www.nidr.nih.gov/cranio/chromosome/5-8.html

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

69. Birth Disorder Information Directory - P syndrome See Schinzel syndrome. Pallister Hall syndrome (Hypothalamic Hamartoblastoma,Hypopituitarism, Imperperforate Anus, and Postaxial Polydactyly) http://www.bdid.com/defectp.htm

HOME P P-4 Deletion Syndrome A nationally recognized not-for-profit pre-school and therapeutic center for children with and without developmental delays ages 18 months to five years p47-PHOX, Deficiency of See Granulomatous Disease, Chronic, Autosomal Cytochrome-b-Positive Form, Type I p67-PHOX, Deficiency of See Granulomatous Disease, Chronic, Autosomal Cytochrome-b-Positive Form, Type II Pachydermopreiostosis (Hypertrophic Osteoarthropathy, Primary or Idiopathic) PACHYDERMOPERIOSTOSIS; PDP Pachyonychia Congenita See Jadassohn Lewandowsky Syndrome Pagod Syndrome See Kennerknecht Sorgo Oberhoffer Syndrome Pagon Bird Detter Syndrome (Anemia Sideroblastic Spinocerebellar Ataxia) Anemia sideroblastic spinocerebellar ataxia ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA; ASAT Pagon Syndrome See Walker Warburg Syndrome Pallister Syndrome See Schinzel Syndrome Pallister Hall Syndrome (Hypothalamic Hamartoblastoma, Hypopituitarism, Imperperforate Anus, and Postaxial Polydactyly) Pallister Hall syndrome:early diagnosis and natural history PALLISTER-HALL SYNDROME; PHS Also see McKusick Kaufman Syndrome Pallister Killian Syndrome V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG; KRAS2

70. HeartCenterOnline For Patients - For Your Heart Health Hall syndrome II (Pallister Hall syndrome). Hamartopolydactyly syndrome(Pallister Hall syndrome). Hardening of the Arteries (Atherosclerosis). http://www.heartcenteronline.com/myheartdr/search/alpha3.cfm?startletter=H&curpa

71. HeartCenterOnline For Patients - For Your Heart Health Hall syndrome II (Pallister Hall syndrome) Hamartopolydactyly syndrome (PallisterHall syndrome) Hardening of the Arteries (Atherosclerosis) Hashimoto Disease http://www.heartcenteronline.com/myheartdr/glossary/index.cfm?startletter=H&curp

72. Mioti: Medical Condition Pagets Disease, • Pagon syndrome. • Pallister Hall syndrome, • PallisterKillian Mosaic syndrome. • Pallister W syndrome, • Palmar Hyperhidrosis. http://www.mioti.com/cat/condition/results.asp?Alpha=P

73. Mioti: Medical Condition Condition Pallister Hall syndrome. NORD Pallister Hall syndrome. Informationfrom the National Organization for Rare Disorders. General Topics. http://www.mioti.com/cat/condition/condition.asp?Cat=PallisterHall

74. Health Library Pallidotomy (posteroventral pallidotomy) for Parkinson's disease. PallisterHall syndrome. Pallister Killian Mosaic syndrome. Pallister W syndrome. http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/_SearchResults.

75. NORD Rare Disease - Medical Transcription At Medword P Pachydermoperiostosis Paget's Disease Paget's Disease of the Breast Pallister Hallsyndrome Pallister Killian Mosaic syndrome Pallister W syndrome Pancreatic http://www.medword.com/rardisP.html

For Transcriptionists - By Transcriptionists Home Books Business Courses ... Search Medword Resources NORD Rare Disease P 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. A B C D ... Z Find on this page P Pachydermoperiostosis Paget's Disease Paget's Disease of the Breast Pallister Hall Syndrome ... Pyruvate Kinase Deficiency Please Click HERE for a comma-delimited list of the rare diseases that you may add to your speller. List made available by express written permission of NORD - National Organization for Rare Disorders, Inc. Print This Page Important: 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: Medword's Lists of Medical Books Book Lists Menu Abbreviations Administration Atlases ... "Incredibly Easy" Medical Books

76. Open Directory & Pay Per Click Search Engine: Health/Conditions And Diseases/Gen Opitz syndrome (5). Organizations (7). Pallister Killian Mosaic syndrome (3). PallisterHallsyndrome (6). Personal Pages (11). Popliteal Pterygium syndrome (2). http://www.searchpixie.com/Health/Conditions_and_Diseases/Genetic_Disorders/

Need Traffic TrafficGiveAway.com Search the Web Home Toolbar LinkManager bookmark ... Conditions and Diseases : Genetic Disorders CATEGORIES: Aarskog Syndrome Aase Syndrome Ablepharon-Macrostomia Syndrome Alagille Syndrome ... Zellweger Syndrome LINKS: Dr. Greene's HouseCalls A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. http://www.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. http://www.geneclinics.org 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. http://www.kumc.edu/gec/support/ 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. http://www.mindspring.com/~sandysimmons/genetic_disorders.html

77. Ask Jeeves: Search Results For "Oligodactyly" http//www.bdid.com/polydactyly.htm 3. NORD Roberts syndrome Access single full-textdisease entry Access multiple full-text disease entries Access for http://webster.directhit.com/webster/search.aspx?qry=Oligodactyly

78. Genetic Disorders syndrome; Noonan syndrome; Opitz syndrome; Organizations; PallisterHallsyndrome; Pallister Killian Mosaic syndrome; Personal Pages; Popliteal http://www.ad.com/Health/Conditions_and_Diseases/Genetic_Disorders/

search Top Categories: 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. Category: Health > Conditions and Diseases > Genetic Disorders http://www.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. Category: Health > Conditions and Diseases > Genetic Disorders http://www.geneclinics.org/ 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. Category: Health > Conditions and Diseases > Genetic Disorders http://www.kumc.edu/gec/support/ 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. Category: Health > Conditions and Diseases > Genetic Disorders http://www.mindspring.com/~sandysimmons/genetic_disorders.html

79. NEWS.TERADEX.COM - Health/Fitness/Diseases/Genetic Disorders Batten, Organizations, BeckwithWiedemann syndrome, Pallister-Hallsyndrome, Coffin Lowry syndrome, Pallister Killian Mosaic syndrome, http://news.teradex.com/Health_Fitness/Diseases/Genetic_Disorders/

preloadImages('as_free_x-mail','','as_ad-space'); Add your Web Site Add Search to your Site Search: Current Group Entire Site Results per page: Output format: Long Short URL Match: All Any Boolean Aarskog Syndrome Aase Syndrome Meckel-Gruber Syndrome Ablepharon-Macrostomia Syndrome ... Genetic Disorders Page 1 of 1 Add News Release News Headline Company Added ... News Release Submissions Activated Submit News Release! Sign Up User Name: Password: Administrative Approval Required E-Mail: webmaster@teradex.com Aaex Corp.

80. A Listing Of Disorders P. Pachydermoperiostosis. Paget's Disease. Paget's Disease of the Breast. PallisterHall syndrome. Pallister Killian Mosaic syndrome. Pallister W syndrome. Papillitis. http://medschool.umaryland.edu/BTBank/Family/Disorders_P.htm

Brain and Tissue Bank University of Maryland, Baltimore P Pachydermoperiostosis Paget's Disease Paget's Disease of the Breast Pallister Hall Syndrome Pallister Killian Mosaic Syndrome Pallister W Syndrome Papillitis Papillon Lefevre Syndrome Paracoccidioidomycosis Paramyotonia Congenita Paraplegia, Hereditary Spastic Parkinson's Disease Parkinson's Disease, Idiopathic Parry Romberg Syndrome Pars Planitis Parsonage Turner Syndrome Patulous Eustachian Tube Peeling Skin Syndrome Pelizaeus Merzbacher Brain Sclerosis Pemphigoid, Benign Mucosal Pemphigus Penta X Syndrome Pentalogy of Cantrell PEPCK Deficiency, Mitochondrial Perisylvian Syndrome, Congenital Bilateral Perniosis Peroxisomal Disorder Peutz Jeghers Syndrome Peyronie Disease Pfeiffer Syndrome Type I Phenylketonuria Pheochromocytoma Phocomelia Syndrome Phosphoglycerate Kinase Deficiency Pick's Disease Pierre Robin Syndrome Pinta Pityriasis Rubra Pilaris Pneumonia, Eosinophilic Pneumonia, Interstitial POEMS Syndrome Poland Syndrome Polyarteritis Nodosa Polychondritis Polycystic Kidney Diseases Polycystic Liver Disease Polycythemia Vera Polyglucosan Body Disease, Adult

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