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         Multiple Hamartoma Syndrome:     more detail

61. Liver Mets?
stage 1a (1.5 mm tumour) breast cancer and thyroid cancer in 99 and also been clinically diagnosed with Cowden s syndrome (multiple hamartoma syndrome)recently
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The Cleveland Clinic , consistently ranked one of the best hospitals in America. Subject: Liver mets?
Topic Area: Breast Cancer - General
Forum: The Breast Cancer Forum
Question Posted By: lbada on Tuesday, July 22, 2003
My wife (35 yrs.old) was diagnosed over 2 yrs ago with stage 1a (1.5 mm tumour) breast cancer and thyroid cancer in '99 and also been clinically diagnosed with Cowden's syndrome (multiple hamartoma syndrome)recently. She is doing well. She had an abdominal ultrasound ( 1st time, part of regular screening for Cowden's syndrome). Radiologist found single 5mm lesion consistant with hemangioma on her liver, but could not exclude metastasis due to her history and ordered follow-up with CT. Our question is, how do mets usually present, as single lesion or multiple? Generally how good is ultrasound at distinguishing between the two (should we be hopeful with her impression of hemangioma)? Is hemangioma common on the liver? Thanks in advance. Answer Posted By: CCF-RN,MSN-RF on Tuesday, July 22, 2003

62. Cowden Syndrome
Cowden syndrome. multiple hamartoma syndrome GItract hamartomas (incl. stomach and colon). breast Ca; thyroid Ca. circumoral papillomatosis;
http://chorus.rad.mcw.edu/doc/00100.html
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Cowden syndrome
"multiple hamartoma syndrome"
  • GI-tract hamartomas (incl. stomach and colon)
  • breast Ca
  • thyroid Ca
  • circumoral papillomatosis
  • nodular gingival hyperplasia
See also: polyposis syndromes Charles E. Kahn, Jr., MD - 2 February 1995
Last updated 26 May 2004

Medical College of Wisconsin

63. GeneCard For PTEN
THE PREDOMINANT PHENOTYPE FOR CS IS multiple hamartoma syndrome, IN MANY ORGAN SYSTEMS INCLUDING THE BREAST (70% OF CS PATIENTS), THYROID (4060%), SKIN, CNS
http://www6.unito.it/cgi-bin/cards/carddisp?PTEN

64. Directory - Health: Conditions And Diseases: M
5) Mouth Cancer@ (22) Moyamoya Disease@ (6) Mucopolysaccharidosis 3@ (6) Multiple Chemical Sensitivity@ (31) multiple hamartoma syndrome@ (3) Multiple Myeloma
http://www.incywincy.com/search-engine/directory/directory?p=43355

65. [P&S Journal:Wi:97] Cowden's Syndrome: Masked Menace
Instead, she suffers from a littleknown disease called Cowden s syndrome (CS; also known as multiple hamartoma syndrome)an autosomal dominant disorder
http://cumc.columbia.edu/news/journal/journal-o/archives/jour_v17n1_0011.html
Cowden's Syndrome: Masked Menace By Devera Pine
Illustration by Susan Gilbert
W hen Mary Smith (not her real name) was 16 years old, she found a lump in her breast. "My mother was terrifiedshe thought it was cancer," says Ms. Smith, now 53. "But in those days, no one talked about cancer. So even though I was scared that I had to have surgery, I didn't know the overwhelming possibilities." Since then, she has had a seemingly endless series of cancer scares and actual bouts with cancer: four biopsies for suspicious breast lumps, a lumpectomy followed by a mastectomy, a hysterectomy, partial nephrectomy for what turned out to be a benign mass, and, in 1996, another mastectomy. Mary Smith does not have the BRCA1 or BRCA2 breast cancer genes. Instead, she suffers from a little-known disease called Cowden's syndrome (CS; also known as multiple hamartoma syndrome)an autosomal dominant disorder characterized by skin lesions and a high risk of both breast and thyroid cancer. The medical literature describes CS as a rare disease associated with marked disfigurement. But according to Dr. Monica Peacocke, associate professor of medicine and of dermatology, CS is fairly common, not generally disfiguring, easily missed by many doctors, and an under-recognized cause of many cases of familial breast cancer. "The genetic basis of many types of familial breast cancer is not yet known," says Dr. Peacocke, who is collecting the genetic pedigrees of people like Mary Smith. "CS is masquerading as sporadic breast cancer."

66. Arch Dermatol -- Abstracts: Elston Et Al. 122 (5): 572
multiple hamartoma syndrome (Cowden s disease) associated with nonHodgkin s lymphoma. A 70-year-old woman with the multiple hamartoma syndrome is described.
http://archderm.ama-assn.org/cgi/content/abstract/122/5/572
Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA For The Media Classified Ads Meetings Peer Review Congress
Vol. 122 No. 5, May 1986 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Elston DM Graham GF Contact me when this article is cited
Multiple hamartoma syndrome (Cowden's disease) associated with non-Hodgkin's lymphoma
D. M. Elston, W. D. James, O. G. Rodman and G. F. Graham
A 70-year-old woman with the multiple hamartoma syndrome is described. Diagnosis was based on the clinical presentation and histopathologic examination of cutaneous trichilemmomas. The case is reported to document the association of Cowden's disease with non-Hodgkin's lymphoma. This is the first known report of the occurrence of trichilemmomas in the sacral area. The literature concerning the association of the multiple hamartoma

67. Nature Genetics
Cowden disease (CD) (MIM 158350), or multiple hamartoma syndrome, is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer.
http://www.nature.com/ng/wilma/v13n1.867941190.html
articles
RETURN TO

May 1996

TABLE OF

CONTENTS
volume 13 number 1 page 114
M.R. Nelen , G.W. Padberg , E.A.J. Peeters , A.Y. Lin , B. van den Helm , R.R. Frants , V. Coulon , A.M. Goldstein , M.M.M van Reen , D.F. Easton , R.A. Eeles , S. Hodgson , J.J. Mulvihill , V.A. Murday , M.A. Tucker , E.C.M. Mariman , T.M. Starink , B.A.J. Ponder , H.H. Ropers , H. Kremer , M. Longy
Cowden disease (CD) (MIM 158350), or multiple hamartoma syndrome, is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. Its clinical features include a wide array of abnormalities but the main characteristics are hamartomas of the skin, breast, thyroid, oral mucosa and intestinal epithelium. The pathognomonic hamartomatous features of CD include multiple smooth facial papules, acral keratosis and multiple oral papillomas . The pathological hallmark of the facial papules are multiple trichilemmomas . Expression of the disease is variable and penetrance of the dermatological lesions is assumed to be virtually complete by the age of twenty . Central nervous system manifestations of CD were emphasized only recently and include megalencephaly, epilepsy and dysplastic gangliocytomas of the cerebellum (Lhermitte-Duclos disease, LDD)

68. Project: Identificatie Van Het Gen Voor De Ziekte Van Cowden En De Opheldering V
a) Cowden disease (CD) or multiple hamartoma syndrome (MIM 158350) is a rare autosomal dominant familial cancer syndrome with a high risk for breast cancer.
http://www.niwi.knaw.nl/nl/oi/nod/onderzoek/OND1254488/toon
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Project: Identificatie van het gen voor de ziekte van Cowden en de opheldering van de rol daarvan bij het ontstaan van kanker
Titel-Eng Identification of the Cowden disease gene and the elucidation of its role in tumorgenesis. Samenvatting-Eng a) Cowden disease (CD) or multiple hamartoma syndrome (MIM # 158350) is a rare autosomal dominant familial cancer syndrome with a high risk for breast cancer. Its clinical features include a wide array of abnormalities but the main characteristics are hamartomas of the skin, breast, thyroid, oral mucosa and intestinal epithelium. The pathognomonic hamartomatous features of CD include multiple smooth facial papules, acral keratosis and multiple oral papillomas. The pathological hallmark of the facial papules are multiple trichilemmomas. Central nervous system manifestations of CD
include megalencephaly, epilepsy and dysplastic gangliocytomas of the cerebellum (Lhermitte-Duclos disease, LDD). Early diagnosis is important since female patients with CD are at risk of developing breast cancer. Other lesions include benign and malignant disease of the thyroid, intestinal polyps and genitourinary abnormalities. Interestingly, anticipation has been described in a number of families.

69. JJCO -- Tsubosa Et Al. 28 (1): 42
Cowden s disease is a multiple hamartoma syndrome with an autosomal dominantinheritance pattern, which is associated with an increased susceptibility to
http://jjco.oupjournals.org/cgi/content/full/28/1/42
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Ushio, K Download to Citation Manager Japanese Journal of Clinical Oncology Pages Breast Cancer in Cowden's Disease: a Case Report with Review of the Literature
Introduction

Case Report

Discussion

References
Breast Cancer in Cowden's Disease: a Case Report with Review of the Literature
Yasuhiro Tsubosa Takashi Fukutomi Hitoshi Tsuda Yae Kanai Sadako Akashi-Tanaka Takeshi Nanasawa Gen Linuma and Kyousuke Ushio
Department of Surgical Oncology, National Cancer Center Hospital, Pathology Division, National Cancer Center Research Institute and Department of Diagnostic Radiology, National Cancer Center Hospital, Tokyo Japan Key words: Cowden's disease - breast cancer - endometrial cancer - goiter
INTRODUCTION
The most consistent clinical features of Cowden's disease include facial trichilemmomas (flesh-colored papules), oral papillomas and fibromas and acral papillomatous lesions. Internal abnormalities described in Cowden's disease include goiter, hypothyroidism, thyroid adenoma, genitourinary tumors or malformations, gastrointestinal polyps and breast disease. Cowden's disease is a multiple hamartoma syndrome with an autosomal dominant-inheritance pattern, which is associated with an increased susceptibility to malignancies ( ). There have been few reports, however, of breast cancer in Cowden's disease in Japan (

70. Health Conditions And Diseases M
22 Moyamoya Disease@ 6 MPS III@ 6 MRKH@ 8 Mucopolysaccharidosis 3@ 6 Multiple Chemical Sensitivity@ 28 multiple hamartoma syndrome@ 3 Multiple
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71. HAMARTOMA SYNDROME, MULTIPLE
hamartoma syndrome, multiple. Specialty Definition hamartoma syndrome, multiple. Domain, Definition. Top. Alternative Orthography hamartoma syndrome, multiple.
http://www.websters-online-dictionary.org/definition/english/Ha/Hamartoma_Syndro
Philip M. Parker, INSEAD.
HAMARTOMA SYNDROME, MULTIPLE
Specialty Definition: HAMARTOMA SYNDROME, MULTIPLE
Domain Definition
Health
A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Papules of the face and oral mucosa are the most characteristic lesion. Other changes occur in the skin, in the thyroid, the breast, the gastrointestinal system, and the nervous system. ( references Source: compiled by the editor from various references ; see credits. Top
Alternative Orthography: HAMARTOMA SYNDROME, MULTIPLE
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72. Hamartoma Syndrome, Multiple
Help Disclaimer. hamartoma syndrome, multiple. Image URL Cowden s syndrome, Image URL Cowden s syndrome, Image URL Cowden s syndrome,
http://www.brisbio.ac.uk/ROADS/subject-listing/hamartomasyndromemultiple.html
A collection of medical, dental and veterinary images for use in teaching. Home About the Archive FAQ Terms and Conditions ... Help
Hamartoma Syndrome, Multiple
Cowden's syndrome Cowden's syndrome Cowden's syndrome

73. Kprones BannayanID10044
Macrocephaly, pseudopapilledema and multiple hemangiomata a previously Cowden disease and BannayanZonana syndrome, two hamartoma syndromes with germline
http://www.infobiogen.fr/services/chromcancer/Kprones/BannayanID10044.html
Atlas of Genetics and Cytogenetics in Oncology and Haematology
Home Genes Leukemias Solid Tumours ... NA
Bannayan-Riley-Ruvalcaba syndrome
Identity Other names Bannayan-Zonana syndrome Riley-Smith syndrome Ruvalcaba-Myhre-Smith syndrome Macrocephaly, pseudopapilledema, multiple hemangiomata Macrocephaly, multiple lipomas, hemangiomata Inheritance autosomal dominant; existence of sporadic cases Clinics Note Bannayan-Riley-Ruvalcaba syndrome is an overgrowth syndrome / hamartomatous polyposis condition with an increased risk of benign and malignant tumours; other overgrowth syndromes at (known) risk of tumourigenesis are :
  • Beckwith-Weideman syndrome
  • Sotos syndrome (cerebral gigantism),
  • Hemihyperplasia (hemihypertrophy), and
  • Simpson Golabi Behemel syndrome Phenotype and clinics onset in chilhood (in contrast with Cowden disease , although an allelic disorder, see below); more often found in male patients (lower penetrance in female patients).
    - overgrowth at birth (postnatal growth decelerates).
    - macrocephaly
    - hypotonia and mental deficiency
    - subcutaneous and visceral lipomas and hemangiomas, and intestinal juvenile polyposis.
  • 74. TBASE Reference
    Animal Aging GermLine Mutation Female Human Male Mammary Neoplasms Mice Mice, Knockout Mice, Inbred C57BL Endometrial Neoplasms hamartoma syndrome, multiple.
    http://tbase.jax.org/tbase-cgi/tbase_getcit.pl?acc=1010976

    75. Cancer
    Pancreatic Cyst + Parovarian Cyst Pilonidal Sinus Ranula Synovial Cyst + Thyroglossal Cyst Urachal Cyst hamartoma hamartoma syndrome, multiple Proteus syndrome
    http://www.library.adelaide.edu.au/guide/med/pubhealth/cancer.html
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    76. Cancer Spectrum CANCERLIT® Citation
    Germline mutations in PTEN are responsible for Cowden disease (CD), a rare autosomal dominant multiple-hamartoma syndrome. PTEN
    http://jncicancerspectrum.oupjournals.org/cgi/cancerlit/9399897
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    Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. Author: ED Lynch, EA Ostermeyer, MK Lee, JF Arena, H Ji, J Dann, K Swisshelm, D Suchard, PM MacLeod, S Kvinnsland, BT Gjertsen, K Heimdal, H Lubs, P Moller, and MC King Source: Am J Hum Genet 1997;61(6): 1254-60 UI:

    77. Hamartome Multiple, Syndrome : Sites Et Documents Francophones
    Translate this page multiple . Arborescence(s) du thesaurus MeSH contenant le mot-clé hamartome multiple, syndrome hamartoma multiple, syndrome
    http://www.chu-rouen.fr/ssf/pathol/hamartomemultiplesyndrome.html
    Hamartome multiple, syndrome Menu général CISMeF Définition [MeSH Scope Note ; traduction CISMeF] : Maladie héréditaire caractérisée par des nevi ectodermiques, mésodermiques, et endodermiques multiples et des anomalies néo-plastiques. Des papules du visage et des fibroses de la cavité buccale sont les lésions les plus caractéristiques. D'autres changements se produisent dans la peau, dans la thyroïde, le sein, le système gastro-intestinal, et le système nerveux.
    Synonyme(s) CISMeF Bannayan-Zonana, syndrome de ; Riley-Smith, syndrome de ; Ruvalcaba-Myhre, syndrome de .
    Synonyme(s) MeSH Cowden, maladie ; Maladie Cowden ; Syndrome hamartome multiple
    Arborescence(s) hamartome multiple, syndrome hamartoma multiple, syndrome
    maladies et malformations congénitales, héréditaires et néonatales
    tumeurs Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter Ou consulter ci-dessous une sélection des principales ressources :
    Qualificatifs : consultation médicale

    78. Bz-update.html
    Neoplasmspathology; Gastrointestinal-Neoplasms-radiography; hamartoma-pathology; hamartoma-radiography; hamartoma-syndrome,-multiple-diagnosis; Peutz-Jeghers
    http://www.indiana.edu/~pietsch/bz-update.html
    web contact: pietsch@indiana.edu
    Bannayan-Zonana Syndrome
    An update of the literature (1997)
    For a non-technical description of B-Z syndrome see NORD.
    conducted at
    Indiana University , Bloomington, Indiana and presented with the generous co-operation and kind permission of SilverPlatter familial macrocephaly;
    autosomal dominant macrocephaly;
    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

    79. Bannayan-zonana1999.html
    MINOR MESH HEADINGS Adult; Child-; Craniofacial-Abnormalities-genetics; hamartoma-syndrome,-multiple-genetics; Middle-Age; Pedigree-; Phenotype-; Sequence
    http://www.indiana.edu/~pietsch/bannayan-zonana1999.html
    web contact: pietsch@indiana.edu
    Bannayan-Zonana Syndrome
    An update of the literature (1999)
    For a non-technical description of B-Z syndrome see NORD.
    conducted at
    Indiana University , Bloomington, Indiana and presented with the generous co-operation and kind permission of SilverPlatter familial macrocephaly;
    autosomal dominant macrocephaly;
    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

    80. CancerGene BZS
    Class, DISORDER. Diseases, Abnormalities, multiple; Brain Neoplasms; hamartoma syndrome, multiple; Hemangioma; Lipoma. Note, see related gene PTEN (CG639 ).
    http://caroll.vjf.cnrs.fr/cancergene/CG917.html
    Infobiogen
    Search CancerGene CancerGene Homepage Search CancerGene Citations
    CancerGene Card Symbol
    BZS
    Aliases Name
    Bannayan-Zonana syndrome
    Locus
    OMIM
    GDB SwissProt LocusLink BZS
    • Class DISORDER Diseases Abnormalities, Multiple; Brain Neoplasms; Hamartoma Syndrome, Multiple; Hemangioma; Lipoma Note see related gene PTEN ( CG:639
      • Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Recent Articles : Faisal Ahmed S;Marsh DJ;Weremowicz S;Morton CC;Williams DM;Eng C
        Balanced translocation of 10q and13q, including the PTEN gene, in a boy with a human chorionic gonadotropin-secreting tumor and the Bannayan-Riley-Ruvalcaba syndrome.
        J Clin Endocrinol Metab 1999 Dec;84(12):4665-70. Marsh DJ;Kum JB;Lunetta KL;Bennett MJ;Gorlin RJ;Ahmed SF;Bodurtha J;Crowe C;Curtis MA;Dasouki M;Dunn T;Feit H;Geraghty MT;Graham JM Jr;Hodgson SV;Hunter A;Korf BR;Manchester D;Miesfeldt S;Murday VA;Nathanson KL;Parisi M;Pober B;Romano C;Eng C;et al PTEN mutation spectrum and genotype-phenotype correlations in Bannayan- Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 1999 Aug;8(8):1461-72

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