Extractions: also called Bannayan-Riley-Ruvalcaba syndrome MEDLINE EXPRESS (R) 1/96-1/97 1 of 13 TI: Clinicopathologic findings in the Bannayan-Riley-Ruvalcaba syndrome. AU: Fargnoli-MC; Orlow-SJ; Semel-Concepcion-J; Bolognia-JL AD: Department of Dermatology, Yale University School of Medicine, New Haven, Conn, USA. SO: Arch-Dermatol. 1996 Oct; 132(10): 1214-8 ISSN: 0003-987X PY: 1996 LA: ENGLISH CP: UNITED-STATES MESH: Abnormalities,-Multiple-genetics; Adolescence-; Adult-; Bone-and-Bones-abnormalities; Head-abnormalities; Mental-Retardation-genetics; Skin-pathology; Skin-Diseases-genetics; Skin-Diseases-pathology; Syndrome- MESH: *Abnormalities,-Multiple; *Mental-Retardation; *Skin-Diseases TG: Case-Report; Female; Human; Male
Extractions: also called Bannayan-Riley-Ruvalcaba syndrome Record 1 of 6 in MEDLINE EXPRESS (R) 1999/11-1999/12 TITLE: Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome. AUTHOR(S): Bevan-S; Woodford-Richens-K; Rozen-P; Eng-C; Young-J; Dunlop-M; Neale-K; Phillips-R; Markie-D; Rodriguez-Bigas-M; Leggett-B; Sheridan-E; Hodgson-S; Iwama-T; Eccles-D; Bodmer-W; Houlston-R; Tomlinson-I ADDRESS OF AUTHOR: Section of Cancer Genetics, Haddow Laboratories, Institute of Cancer Research, Sutton, UK. SOURCE (BIBLIOGRAPHIC CITATION): Gut. 1999 Sep; 45(3): 406-8 INTERNATIONAL STANDARD SERIAL NUMBER: 0017-5749 PUBLICATION YEAR: 1999 LANGUAGE OF ARTICLE: ENGLISH COUNTRY OF PUBLICATION: ENGLAND MINOR MESH HEADINGS: Adolescence-; Genetic-Markers; Phosphoproteins-genetics; Polymorphism-Genetics; Trans-Activators-genetics
Extractions: Women's Health I've divided this page into two sections. The first provides you with some tips on searching for material on Medline, and the second provides links to other Australian and overseas web resources, including some full text report and journal literature. You will find material on cancer in Medline, but you will need to be aware of the thesaurus (MeSH) terms used to search for topics in this area. For example, if you look up the term Cancer in the Medline Thesaurus you will find the following. Cancer is not a MeSH term, but it is associated with the MeSH term Neoplasms In other words Medline does not use the word "cancer" in its list of terms. You will need to search the word "neoplasms". This term has an extensive number of more specific terms associated with it.
Extractions: Cowdenin syndrooma : hamartomatous syndrome, multiple hamartoma syndrome, multiple hamartoma and neoplasia syndrome (Devlin ym., 1992; Hanssen ym., 1995). Taudille ovat ominaisia ihon, limakalvojen, rintojen ja kilpirauhasen ekto-, meso- ja endodermaaliset hamartomatoottiset leesiot. Taudin kliininen merkitys on sen yhteys erityisesti rinnoissa ja kilpirauhasessa oleviin maligneihin tuumoreihin. (Lloyd ym., 1963; Haibach ym., 1992) (Lloyd ym., 1963). (Bagan ym., 1989; Harned ym., 1995) (Bardenstein ym., 1988; Bagan ym., 1989) (Williard ym., 1992) Kliininen kuva Iholeesiot (Bagan ym., 1989) (Steffen ym., 1993) (Fielding, 1993) (Saccardi ym., 1994) (Bagan ym., 1989; Bardenstein ym., 1988; Fielding, 1993) (Saccardi ym., 1994) (Bardenstein ym., 1988; Sabin ym., 1988; Fielding, 1993) (Sabin ym., 1988) (Sabin ym., 1988) (Fielding, 1993) Histologia (Bardenstein ym., 1988; Saccardi ym., 1994) (Bardenstein ym., 1988) (Bardenstein ym., 1988) Limakalvoleesiot Suun limakalvon leesiot ovat luultavasti tunnusomaisempia kuin iholeesiot - niitä on noin 86%:lla potilaista. Leesiot käsittävät papuloita, jotka voivat olle pieniä ja lukuisia tai papillomatoottisia ja syylämäisiä muodostelmia, jotka usein yhdistyvät ja peittävät laajoja alueita suun limakalvoa ja saavat limakalvon näyttämään "mukulakivimäiseltä". Suun limakalvon papillomatoosi käsittää pääasiassa sileäpintasia papuloita, jotka ovat ikenissä, kielessä, huulessa, uvulassa ja suulaessa.
Arch Ophthalmol -- Page Not Found 1, 2 This syndrome is characterized by anomalies multiple skin basal cell carcinomas,odontogenic keratocysts of nerve fibers, and astrocytic hamartoma of the http://archopht.ama-assn.org/issues/v118n7/ffull/epe90095-1.html
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Lentigo presents with typical manifestations of CD, including multiple malignancies clinicalpurposes and classified as the 'PTEN hamartomatumour syndrome' 111 http://www.thedoctorsdoctor.com/diseases/lentigo.htm
Extractions: Background This is a common and benign pigmented lesion of the skin, composed of an increase in melanocytes at the dermal-epidermal junction. It is closely related to the melanocytic nevus and indeed, some junctional nevi share histologic features with lentigos, occasionally called jentigos. OUTLINE Carney complex: in a patient with multiple blue naevi and lentigines, suspect cardiac myxoma. Bleasel NR, Stapleton KM. Department of Dermatology, Royal Hobart Hospital, Tasmania, Australia. Australas J Dermatol 1999 Aug;40(3):158-60 Abstract quote Carney complex is characterized by spotty pigmentation (blue naevi and lentigines), myxomas (cardiac, cutaneous, mammary), endocrine over-activity (Cushing's syndrome, acromegaly), testicular tumours, and schwannomas. We report a male with multiple blue naevi, lentigines, testicular large cell calcifying Sertoli-cell tumour and four cardiac myxomas. The myxomas caused two cerebrovascular accidents and a myocardial infarction. All patients with multiple blue naevi or lentigines should be investigated for the life-threatening association of cardiac myxomas.
ClinicalTrials.gov - Linking Patients To Medical Research: Browse: H 4. hamartoma (3 studies recruiting). 5. hamartoma syndrome, multiple (1study recruiting). 6. Head and Neck Neoplasms (113 studies recruiting). http://www.clinicaltrials.gov/ct/gui/screen/BrowseAny?recruiting=true&path=/brow
Tumor Suppressor Genes advanced cancers 1); Formerly known as BZS (BannayanZonana syndrome)and MHAM1 (multiple hamartoma 1); Cowden's syndrome; Involved http://www.intouchlive.com/cancergenetics/tsg.htm
Extractions: T umor suppressor genes normally function to inhibit or "put the brakes on" the cell growth and division cycle; they function to prevent the development of tumors. Mutations in tumor suppressor genes cause the cell to ignore one or more of the components of the network of inhibitory signals, removing the brakes from the cell cycle and resulting in a higher rate of uncontrolled growthcancer. In a manner similar to oncogenes , the products of tumor suppressor genes function in all parts of the cell...at the cell surface, in the cytoplasm , and in the nucleus Tumor suppressor genes are defined by the impact of their absence and thus tend to be recessive alleles must mutate before cancerous growth begins. Thus, neoplasia is the result of a loss of function. The loss or inactivation of a normal tumor suppressor gene may be acquired somatically in a single clone of cells or be constitutionally present throughout the body, including the germ line. It has been hypothesized that the development of tumors requires two separate mutational events. One of these events may occur in the germline and be inherited; the second then occurs somatically. Alternatively, the two mutational events may occur only in the somatic cell of an individual. This "
GENATLAS GENE DATABASE MHAM, 10q23.3, Cowden syndrome characterized by multiple hamartoma in the breast,thyroid,skin,CNSand gastrointestinal tract associated with trichilemmomas http://bisance.citi2.fr/cgi-bin/mug?tex1=PTEN
The Dictionary Of Cell And Molecular Biology - Online! Germline mutations in PTEN are responsible for Cowden disease (CD),a rare autosomal dominant multiple-hamartoma syndrome. Mutated http://www.mblab.gla.ac.uk/~julian/dict2.cgi?5431
Hamartoma-Polyposis-Syndrome: Translate this page A possible new symptom complex with multiple system involvement phenotype analysesin Cowden disease and Bannayan-Zonana syndrome, 2 hamartoma syndromes with http://www.hospvd.ch/public/chuv/genmol/ssgm/bul/article/ssgm41d-3.htm
Extractions: Hamartoma-Polyposis-Syndrome: Molekulargenetische Diagnostik, histologische und klinische Aspekte Die autosomal-dominant vererbbaren nicht-neoplastischen Hamartoma-Polyposis-Syndromen Tab. 1 Hamartoma-Polyposis-Syndrome Symptom klinische Charakteristiken Gen Genort Cowden-Syndrom (CS) PTEN/MMAC1/ Bannayan-Ruvalcaba-Riley -Syndrom (BRRS) PTEN weitere ? (JPS) "juvenile" Polypen, PTEN? weitere ? Peutz-Jeghers-Syndrom (PJS) Literatur: Eng C, Ji HL: Molecular classification of the inherited hamartoma polyposis syndromes: clearing the muddied waters. Am J Hum Genet (1998) 62: 1020 - 1022 Eng C, Peacocke M: PTEN and inherited hamartoma-cancer syndromes. Nat Genet (1998) 19: 223 Hemminiki A et al.: A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature (1998) 391: 184 - 187 Howe JR et al.: Mutations in the SMADA/DPC4 gene in juvenile polyposis. Science (1998) 280: 1086 - 1088 Jeghers H, McKusick VA, Katz KH: Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits. A syndrome of diagnostic significance. N Engl J Med (1949) 241, 993 - 1005; 1031 -1036 Jenne DE et al,: Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet (1998) 18: 38 - 43