21. Pallister-Hall Syndrome pallisterhall syndrome. MIM.146510 7p13. PHS. Printable version. Autosomal dominantdisease. Most cases are sporadic. Synopsis. - systemic anomalies http://www.humpath.com/article.php3?id_article=5727

22. Pallister-Hall Syndrome : Genetic Disorders : Disorders And Diseases : Health An pallisterhall syndrome A Layman s Guide popular. http//www.pallisterhall.com/.For PHS patients, their care givers, and medical practitioners. http://www.internet-web-directory.com/Health_and_Fitness/Disorders_and_Diseases/

Skip to Content Login/Register Web Directory by Internet-Web-Directory.com Web Directory Home ... Link Notify Search the entire directory only this category Advanced Search Web Directory Health and Fitness Disorders and Diseases ... Genetic Disorders Pallister-Hall Syndrome Pallister-Hall Syndrome Subscribe Links Pallister-Hall Syndrome: A Layman's Guide popular http://www.pallisterhall.com/ For PHS patients, their care givers, and medical practitioners. More Details Review It Rate It Bookmark It Sponsor Links Love Romance Dating Gift Ideas at Gifts-Shop.com Internet-Web-Directory.com

23. Pallister-Hall Syndrome pallisterhall syndrome. Hypothalamic hamartoblastoma, hypopituitarism, imperforateanus, and postaxial polydactyly. PHS. pallister-hall syndrome Clinical http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=226

24. Blackwell Synergy - Cookie Absent Report from the workshop on pallisterhall syndrome and related phenotypes. Autosomal dominant transmission of the pallister-hall syndrome. http://www.blackwell-synergy.com/doi/abs/10.1111/j.1399-0004.2005.00370.x

Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

25. Blackwell Synergy - Cookie Absent GLI3 frameshift mutations cause the pallisterhall syndrome. Nat Genet 1997;15266 -8. pallister-hall syndrome clinical and MR features. http://www.blackwell-synergy.com/doi/abs/10.1111/j.0013-9580.2005.68303.x

Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

26. Health/Conditions And Diseases/Genetic Disorders/Pallister-Hall Syndrome -- The pallisterhall syndrome, its synonyms, a summary and a list of major features . NORD Pallister Hall Syndrome Offers the synonyms, a general discussion http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Genetic_Disor

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... National Library of Medicine Pallister-Hall syndrome, its synonyms, a summary and a list of major features. url: www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome5... NORD: Pallister Hall Syndrome Offers the synonyms, a general discussion and further resources. url: www.rarediseases.org/search/rdbdetail_abstract.htm... Yahoo! Groups : Pallister-Hall Syndrome Details and instructions for joining, posting and reading the mail for this email support group. url: groups.yahoo.com/group/pallister-hall_syndrome/ mozilla.org url: www.mozilla.org/ Wikipedia url: en.wikipedia.org/ edit url: editors.dmoz.org/editors/editcat.cgi?cat=Health/Co...

27. GEMdatabase - Selected Title TITLE, pallisterhall syndrome. DESCRIPTION, This review focuses on the diagnosis, CONDITIONS, pallister-hall syndrome. SUBJECTS. AVAILABILITY http://www.gemdatabase.org/GEMDatabase/TitleDetailsOne.asp?TitleID=969

28. OMIM - PALLISTER-HALL SYNDROME; PHS http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146510

29. Entrez PubMed pallisterhall syndrome (PHS, M146510) was first described in 1980 in six newborns . Autosomal dominant pallister-hall syndrome maps to 7p13. Am. J. Hum. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=9

30. Genome.gov | Current NHGRI Clinical Studies Epilepsy, Phenotype and Etiology of pallisterhall syndrome, Yes. Familial Dementiawith Neuroserpin Inclusion Bodies, Clinical and Genetic Studies of http://www.genome.gov/10004414

triggerParms["cpp_5"] = "Referer:"+ cppUrlPatch (""); // Optional Home About NHGRI Newsroom Staff ... Clinical Research Current NHGRI Clinical Studies Current NHGRI Clinical Studies Clinical studies give us a better understanding of how genes can cause or influence diseases. NHGRI researchers are working with patients, and with families with a history of inherited diseases, to learn more about the genetic components of common and rare disorders, and to develop new and more effective tests and treatments. Deciding whether to participate in a clinical study is an important and personal process. Some reasons people choose to participate include: Participants in clinical studies help current and future generations. Through these studies, researchers develop new diagnostic tests, more effective treatments, and better ways of managing diseases with genetic components. Participants in studies are actively involved in understanding their disorder and current research. Participants in some studies gain access to new tests and treatments before they are widely available. The following are current clinical studies conducted by NHGRI researchers. For eligibility requirements and contact information, visit the study on clinicaltrials.gov.

31. Genome.gov | Biesecker Lab email lesb@nhgri.nih.gov, Building 49, Room 4A80 49 Convent Drive, MSC 4472Bethesda, MD 20892-4472. Selected Publications pallister-hall syndrome http://www.genome.gov/10000356

triggerParms["cpp_5"] = "Referer:"+ cppUrlPatch (""); // Optional Home About NHGRI Newsroom Staff ... Research Investigators Profiles, publications, links Clinical Research Clinical trials, patient recruitment, IRB FAQ , Overview NHGRI Affiliated Centers CIDR NCGC NISC Online Research Resources Developed at NHGRI Databases, software, tools, more. Division of Intramural Research Calendar Workshops, conferences, seminar series, courses, more. Books and Publications In Other Sections: Administrative Management Branch Intramural Training Office Office of Laboratory Animal Medicine Professional Development Office ... Genetic Disease Research Branch Biesecker Lab Leslie G. Biesecker, M.D. Senior Investigator Genetic Disease Research Branch Head Human Development Section B.S. University of California, Riverside, 1979 M.D. University of Illinois College of Medicine, 1983 lesb@nhgri.nih.gov Building 49, Room 4A80 49 Convent Drive, MSC 4472

32. Donations.com.au All persons diagnosed with pallisterhall syndrome PHS, or caring for a PHSpatient, including families and adults, as well as children, http://www.donations.com.au/lcharity.asp?chID=4456

33. Rare Diseases Terms - Office Of Rare Diseases Hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxialpolydactyly. Information about pallisterhall syndrome is available from http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=7305

34. EMedicine - Supernumerary Digit : Article By Carter G Abel, MD Ellis van Creveld syndrome pallisterhall syndrome Acrocallosal syndromeMcKusick-Kaufman syndrome Mohr syndrome Oral-facial-digital syndrome http://www.emedicine.com/derm/topic692.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases Supernumerary Digit Last Updated: January 30, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: rudimentary polydactyly, digital duplication AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Carter G Abel, MD , Clinical Assistant Attending, Department of Dermatology, New York Presbyterian Hospital Coauthor(s): Denise M McCarthy, MD , Associate Professor, Department of Radiology, Morristown Memorial Hospital Carter G Abel, MD, is a member of the following medical societies: American Academy of Dermatology American College of Mohs Micrographic Surgery and Cutaneous Oncology American Society for Dermatologic Surgery , and Medical Society of New Jersey Editor(s): Albert C Yan, MD

35. Glossary In Congenital Malformations NeuroLearn NeuroHelp The primary feature of pallisterhall syndrome is hypothalamic hamartoma, additionafeatures consistute a spectrum of anomalies including, hypopituitarism, http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNG0BS01-P.htm

Glossary in Congenital Malformations NeuroLearn NeuroHelp Malformations General ... Z General #Pachygyria (Pach-, Greek, thick) Broadening of the gyrus. Agyria and Pachygyria denote macroscopical abnormalities of the cortical surface associated microscopically with a thickened cortical ribbon. The cortical ribbon is usually greatly thickened and the underlying white matter is markedly reduced. Pachygyria represents a milder degree of cortical malformation with peresistence of secondary and some tertiary sulci. Microscopically, a four-layered cortex is a common finding. See also lissencephaly. #Pallium: the cerebral cortex viewed in its entirety, i.e., the mantle of gray matter covering both cerebral hemispheres. Also, this term is also used to describe the cerebral cortex during its development. #Phenyltoin: use of phenytoin during pregnancy carries a risk of microcephaly and minor congenital anomalies including nail hypoplasia and facial dysmorphism. More severe malformations such as anterior encephaloceles have also been reported. #Pia-ependymal seam: this term refers to the fused product between the pia and the ependymal tissue in schizencephaly. Shaw and Alvord questioned the conceptual and observational truthness of this concept.

36. GLI3 CD972242, 670, CCGACT^CAGGgAGCCCTTGGT, pallisterhall syndrome, 4 CD015052,732, GCTTCCT^CTGacCGATGGAGGT, pallister-hall syndrome, 5 http://www.uwcm.ac.uk/uwcm/mg/ns/4/119990.html

Small deletions Accession Number Location/ codon Deletion Phenotype Reference GCCATG^GACCcCAGGAATGGT Greig cephalopolysyndactyly syndrome 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 GCTTCCT^CTGacCGATGGAGGT Pallister-Hall syndrome TTGCT^TTGCAaGCCAGGAGAA Postaxial polydactyly A GCCCGCC^CAGcagTACCGCCTCA Greig cephalopolysyndactyly syndrome CCCGAGG^AGGtGCAGCGACGG Pallister-Hall syndrome GGGCCAC^GGCgTGAGGAGGGC Pallister-Hall syndrome GTCAGC^TCCGgAAGCGCCGAC Greig cephalopolysyndactyly syndrome AACAGC^CCCGgAAGTGGCACC Postaxial polydactyly A/B CTGCAGG^GTGactggTATCAAGATG Greig cephalopolysyndactyly syndrome TCAGT^CAGCAaGACACGAAAG Greig cephalopolysyndactyly syndrome References 1 - Driess (2003) Hum Genet 2 - Kalff-Suske (1999) Hum Mol Genet ... Am J Hum Genet HGMD

37. GLI3 CM990708, 1147, cGAGTAG, Glu-Term, pallister-hall syndrome, 5. HD972188, 1161,tCAG-TAG, Gln-Term, pallister-hall syndrome, 7 http://www.uwcm.ac.uk/uwcm/mg/ns/1/119990.html

Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference TACc-TAA Tyr-Term Greig cephalopolysyndactyly syndrome TTA-TAA Leu-Term Greig cephalopolysyndactyly syndrome aGAA-TAA Glu-Term Greig cephalopolysyndactyly syndrome TCA-TGA Ser-Term Greig cephalopolysyndactyly syndrome cCGA-TGA Arg-Term Greig cephalopolysyndactyly syndrome TTA-TGA Leu-Term Greig cephalopolysyndactyly syndrome gCAG-TAG Gln-Term Greig cephalopolysyndactyly syndrome gTGC-GGC Cys-Gly Greig cephalopolysyndactyly syndrome TGC-TAC Cys-Tyr Greig cephalopolysyndactyly syndrome cGAG-TAG Glu-Term Greig cephalopolysyndactyly syndrome gAAG-TAG Lys-Term Greig cephalopolysyndactyly syndrome gCGA-TGA Arg-Term Postaxial polydactyly A/B cCGA-TGA Arg-Term Greig cephalopolysyndactyly syndrome cCCT-TCT Pro-Ser Greig cephalopolysyndactyly syndrome tGGG-AGG Gly-Arg Postaxial polydactyly A/B gCGA-TGA Arg-Term Greig cephalopolysyndactyly syndrome ATAg-ATG Ile-Met Greig cephalopolysyndactyly syndrome cGCG-CCG Ala-Pro Acrocallosal syndrome cGAG-TAG Glu-Term Pallister-Hall syndrome tCAG-TAG Gln-Term Pallister-Hall syndrome cCAG-TAG Gln-Term Greig cephalopolysyndactyly syndrome References 1 - Driess (2003) Hum Genet 2 - Kalff-Suske (1999) Hum Mol Genet ... Hum Genet HGMD

38. Opera Directory pallisterhall syndrome, its synonyms, a summary and a list of major features.NORD Pallister Hall Syndrome. Offers the synonyms, a general discussion and http://portal.opera.com/directory/?cat=553125

39. The Health Library — Genetics And Birth Defects pallisterhall syndrome. pallister-hall syndromeNORD PHS Patient s ReferenceGuidePallister-Hall Foundation pallister-hall syndromeGeneReviews http://healthlibrary.stanford.edu/resources/internet/bodysystems/genetic_mca_nr.

Diseases and Disorders Use these links to jump directly to your topic of interest in Genetics and Birth Defects: Genetics: General Genetics Gene Therapy Genetic Counseling Genetic Testing ... Genetics of Specific Diseases Birth Defects: General Birth Defects Cardiovascular Defects Connective Tissue Disorders Craniofacial Anomalies ... S - W Multiple Congenital Anomalies (N - R) Jump to: A B C D ... P Q R S T U ... W X Y Z Nail Patella Syndrome Frequently Asked Questions Concerning Nail Patella Syndrome:Nail Patella Syndrome Worldwide Nail Patella Syndrome:Carol Ferensak (patient) Nail-Patella Syndrome:GeneReviews Nijmegen Breakage Syndrome Nijmegen Breakage Syndrome:Madisons Foundation Patient Care and Treatment:Nijmegen Breakage Syndrome Nijmegen Breakage Syndrome:eMedicine Nijmegen Breakage Syndrome:GeneReviews Noonan Syndrome Noonan Syndrome:U.C.Davis Children's Hospital Noonan Syndrome:Birth Defects Foundation, UK [PDF] Aspects of Noonan Syndrome:Cedars-Sinai Medical Center Noonan Syndrome:Genetics Home Reference, NLM Noonan Syndrome:GeneReviews Norrie Disease Norrie Disease:NORD Norrie Disease:Madisons Foundation Norrie Disease:Genetics Home Reference, NLM

40. Karger Publishers 7 Kuller JA, Cox VA, Schonberg SA, Golabi M pallisterhall syndrome associatedwith an unbalanced chromosome translocation. Am J Med Genet 1992;43647-650 http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 2     21-40 of 93    Back | 1  | 2  | 3  | 4  | 5  | Next 20