61. Congenital Heart Disease - Heart: Health And Medical Information About Heart Dis van Creveld syndrome, HoltOram (cardiac-limb) syndrome, Kartagener syndrome, Meckel-Grubersyndrome, Noonan syndrome pallister-hall syndrome, Rubinstein-Taybi http://www.medicinenet.com/Congenital_Heart_Disease/page2.htm

MedicineNet Home Heart Home > Congenital Heart Disease Advanced Search Printer-Friendly Format Add to Favorites Email to a Friend Previous page Congenital Heart Disease Index Next page Congenital Heart Disease (cont.) Chromosome disorders can cause congenital heart disease. (The chromosomes contain the genetic material, the DNA, with each person normally having 46 chromosomes, 23 chromosomes from each parent). About 3% of all children with CHD have a detectable chromosome abnormality. A common chromosome abnormality causing CHD is Down's syndrome (trisomy 21, that is, an extra chromosome # 21. About half of children with Down syndrome have CHD. Other autosomal (non-sex) chromosome abnormalities associated with CHD include trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome). Although less common than Down syndrome, these trisomies carry an even higher risk of CHD. A sex chromosome abnormality with only one X chromosome (45,X) causes Turner syndrome and a 40% risk of CHD. Genetic factors can cause CHD. About 5% of CHD babies have an identifiable genetic disease. Genetic diseases associated with an increased risk of CHD include Apert syndrome, Carpenter syndrome, Conradi syndrome, Crouzon syndrome, cutis laxa, Cornelia de Lange syndrome, Ellis-van Creveld syndrome, Holt-Oram (cardiac-limb) syndrome, Kartagener syndrome, Meckel-Gruber syndrome

62. 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.

63. 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

100 Hot Books 100 Hot CDs 100 Hot Videos 100 Hot DVDs ... Women's Health T he Web MEDLINA.com CDC WHO FDA NIH Search: All Products Books Magazines Popular Music Classical Music Video DVD Baby Electronics Software Outdoor Living Wireless Phones Keywords: CATEGORIES 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 Search Now: info@medlina.com N ew Y ork C ity A merica M edica, I nc.

64. OMIM - PALLISTER-HALL SYNDROME; PHS http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146510

65. OMIM - PALLISTER-HALL SYNDROME; PHS http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?cmd=framedSynopsis&id=146510

66. Electricbrain Home: Index: Health: Conditions And Diseases: Genetic Disorders: P Health Conditions and Diseases Genetic Disorders pallisterhall syndrome News at 0704 on May 22, 2004 Random quote http://www.electricbrain.com/index/Health/Conditions_and_Diseases/Genetic_Disord

electricbrain Index Health Conditions and Diseases ... Genetic Disorders : Pallister-Hall Syndrome home index write privacy ... cache Quote of the Minute... It's not enough to be Hungarian; you must have talent too. Alexander Korda Find someone: Old Friends New Friends Lost Love New Love ... privacy

67. TheFetus.net - Case Of The Week # 65-Luís Flávio Gonçalves, MD Hemangioma and coarctation suggests pallisterhall syndrome, Nevus Sebaceus ofJadassohn, Hemifacial Microsomia, none of which fits really the case http://www.thefetus.net/case.php?id=661&answer=1

68. 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

69. Cleft Related Genetic Syndromes pallisterhall syndrome, 146510, AD, short nose, flat nasal bridge, multiplebuccal frenula, microglossia, micrognathia, cleft palate, malformed ears. http://www.widesmiles.org/cleftlinks/genetic.html

Cleft Related Genetic Syndromes/Diseases The following table was extracted from a table on Embryogenesis by Dr. Harold C. Slavkin; Director, TYPE (1) GENE NAME GENE SYMBOL CHROMOSOMAL LOCATION OMIM NUMBER FOR GENE SYNDROME OMIM NUMBER FOR SYNDROME INHERI- TANCE (2) DESCRIPTION OF CRANIOFACIAL FEATURES (3) ECM Collagen, type XI, alpha-2 chain Stickler syndrome, type II AD cleft palate, micrognathia, glossoptosis, severe myopia, flat facies, dental anomalies, deafness Osmed syndrome AR saddle nose, cleft palate, progressive deafness Shprintzen-Goldberg syndrome AD craniosynostosis, microcephaly, maxillary and mandibular hypoplasia, palatal shelf soft tissue hypertrophy, cleft palate, prominant nose, narrow palpebral fissures ECM Glypican-3 Simpson dysmorphia syndrome X disproportionately large head, coarse facies, large protruding jaw, wide nasal bridge, upturned nasal tip, large mouth, thickened lips, central cleft of lower lip, midline groove of tongue and inferior alveolar ridge, enlarged tongue, short neck ENZ Phenylalanine hydroxylase PAH Phenylketonuria AR microcephaly, occasional cleft palate, long simple philtrum, thin upper lip, flattened nasal bridge, epicanthus, upturned nose

70. GeneTests: Search Results Research Tests 146095 Greig Cephalopolysyndactyly Syndrome Clinical Tests 3266 GeneReviewgcps 57008 Resources 3266 pallisterhall syndrome Clinical Tests 2711 http://www.genetests.org/query?mim=146510

71. Donations.com.au All persons diagnosed with pallisterhall syndrome PHS, or Pallister-Hall Foundation(Aust.) Post Office Box 88 0649 Web http//www.pallisterhall.com Email http://www.donations.com.au/lcharity.asp?chID=4456

72. DrRecommend: Genetic Disorder PallisterHall Foundation (Australia) Resource and reference about Pallister-HallSyndrome. URLhttp//pallisterhall.com 3.pallister-hall syndrome A Layman s http://www.drrecommend.com/lst/Health/Conditions_and_Diseases/Genetic_Disorders/

sitetype='health'; site='drrecommend.com'; barcategory='genetic disorder'; barpath="http://drrecommend.com/lst/Health/Conditions_and_Diseases/Genetic_Disorders/Pallister-Hall_Syndrome/"; Specials: American Express no-fee card pays back upto 5% cash. Vitamin Shoppe up to 75% off retail. Additional Resources (not subjected to our MD rating) REFERENCE: Medifocus subject reports. AESTHETIC: E-hair-loss DIABETIC: NutriCounter Vitality Medical. Wright ... Stuff diabetes. DIET: NutriCounter NutriSystem Weight Loss. Rainbow ... Watchers. DRUGS: DrugStore EMERGENCY SUPPLIES: Red Cross. EQUIPMENT: Vitality Medical for patients. Professional: Vitality Medical. EXERCISE: Premier Fitness. Tai Chi. Equipment: International Jock. Orbitrek Exerciser and other Wonderful Buys. ... Gym 3000 and other best TV buys. Post-Natal: BodyTrends GADGETRY FOR HEALTH: Gold Violin Gadgets. WrightStuff arthritis. HERBS AND VITAMINS: General: GetVitamins GNC Immune Support. ... Vitamins. Muscle: Body By Jake. HOTLINES: Keen pregnancy talk. INSURANCE: My Family Protection insurance. Preferred HealthPlus. LEGALITIES: TestClear MIND: Serenity Health relaxation.

73. Nature Genetics volume 15 number 3 page 266 GLI3 frameshift mutations cause autosomal dominant PallisterHallsyndrome Autosomal dominant pallister-hall syndrome maps to 7p13. 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

74. GeneViewer The encoded protein is associated with several phenotypes Greig cephalopolysyndactylysyndrome, pallister-hall syndrome, preaxial polydactyly type IV http://www.chr7.org/cgi-bin/geneview?id=GA0123

75. 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.

76. 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

Young-Mo Seong, Chul Han, Ju-Youn Choi, Hyo-Jin Park, Geun-Hye Seong, Min Kyung Nam, ang-Soo Kim, In-Kyung Kim, Seongman Kang, and Hyangshuk Rhim, High-level Expression of Human Procaspase-9 in Escherichia coli and Purification of its GST-tagged Recombinant Protein. Kor. J. Microbiol Young-Mo Seong, Hyo-Jin Park, Geun-Hye Seong, Ju-Youn Choi, Sung-Joo Kim Yoon, Byung-Re Min, Seongman Kang, and Hyangshuk Rhim (2003) N-terminal truncation circumvents proteolytic degradation of the human HtrA2/Omi serine protease in Escherichia coli: Rapid purification of a proteolytically active HtrA2/Omi. protein Express. Purif.

77. ORPHANET® : Pallister-Hall, Syndrome De Translate this page ORPHANET. Accès à la base de données Orphanet. pallister-hall, syndromede. Accès direct aux détails Résumé Ce syndrome malformatif http://www.orpha.net/static/FR/pallisterhall.html

Accès à la base de données Orphanet Pallister-Hall, syndrome de Accès direct aux détails Résumé Ce syndrome malformatif décrit en 1980 se caractérise par la variété de ses manifestations. Il s'agit d'un syndrome de transmission autosomique dominante. ll associe principalement une polydactylie centrale ou post-axiale, des syndactylies et un hamartome hypothalamique. Des malformations viscérales sont fréquentes : imperforation anale, luette bifide, malformation cardiaque, dysplasie pulmonaire ou rénale... Le locus impliqué dans le déterminisme de ce syndrome a été identifié sur le chromosome 7p13. Le syndrome de Pallister-Hall est dû à des mutations du gène apparaissant entre le domaine à doigts de zinc et le site de clivage protéolytique. *Auteur : Pr D. Lacombe (janvier 2004)*. Signes de la maladie ANOMALIE DE LA FACE ETAGE INFERIEUR AXE HYPOTHALAMO-HYPOPHYSAIRE ANOMALIE FENTE LABIALE MEDIANE HYPOTHALAMUS-HYPOPHYSE ANOMALIE FONCTlle MICROPENIS/VERGE PETITE MORT DANS L ENFANCE MORT NE / MORT NEONATALE NEOPLASIE / CANCER OREILLE EPAISSE/TRES SCULPTEE RETARD DE CROISSANCE INTRA-UTERIN RETROGNATHISME/MICROGNATHISME FACE ETAGE MOYEN DE HAUTEUR REDUITE FENTE PALATINE FREINS BUCCAUX ANORMAUX/SYNECHIE BUCCALE IRIS COLOBOME MICROPHTALMIE NEZ COURT/NEZ PETIT OESOPHAGE ATRESIE/FISTULE TRACH.-OESOPH.

78. Health, Conditions And Diseases, Genetic Disorders: Pallister-Hall Syndrome HealthConditions and DiseasesRare Disorders. NORD Pallister Hall syndrome Offers the synonyms, a general discussion and further resources. http://www.combose.com/Health/Conditions_and_Diseases/Genetic_Disorders/Palliste

Top Health Conditions and Diseases Genetic Disorders ... Pallister-Hall Syndrome Related links of interest: Health:Conditions and Diseases:Rare Disorders NORD: Pallister Hall Syndrome - Offers the synonyms, a general discussion and further resources. National Library of Medicine - Pallister-Hall syndrome, its synonyms, a summary and a list of major features. 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. A syndrome of hypothalamic hamartoblastoma, craniofacial abnormalities, polydactyly, and endocrine, cardiac, renal defects, and mild mental retardation in some cases. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor The combose.com directory is based on the Open Directory and has been modified and enhanced using our own technology. About ComboSE Download Combose Toolbar

79. 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

80. Rare Disorders - Information / Diagnosis / Treatment / Prevention Subtopics Rare Disorders Agnosia, Rare Disorders Aicardi syndrome.Rare Disorders Alstrom syndrome, Rare Disorders Barth syndrome. http://www.healthcyclopedia.com/rare-disorders.html

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... Contact Us Rare Disorders Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Subtopics Related Topics Message Boards Health News ... Web Directory: Subtopics: Rare Disorders > Agnosia Rare Disorders > Aicardi Syndrome Rare Disorders > Alstrom Syndrome Rare Disorders > Barth Syndrome Rare Disorders > Cerebrocostomandibular Syndrome Rare Disorders > Cleidocranial Dysplasia Rare Disorders > Cystinosis Rare Disorders > Degos Rare Disorders > Erythromelalgia Rare Disorders > Jacobsen Syndrome Rare Disorders > Melorheostosis Rare Disorders > Moyamoya Rare Disorders > Ollier Disease Rare Disorders > Pemphigoid Rare Disorders > Pemphigus Rare Disorders > Phenylketonuria Rare Disorders > Pierre Robin Syndrome Rare Disorders > Progeria Rare Disorders > Rubinstein-Taybi Syndrome Rare Disorders > Tyrosinemia Rare Disorders > VATER Syndrome Rare Disorders > Wegener's Granulomatosis Related Topics: Aarskog Syndrome Aase Syndrome Abetalipoproteinemia Ablepharon-Macrostomia Syndrome ... Zollinger-Ellison Syndrome Message Boards and Online Support Groups: iVillage.com - The Women's Network

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