Zobrazeno 1 - 10
of 14
pro vyhledávání: '"E M, Petty"'
Publikováno v:
Methods in molecular medicine. 49
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant syndrome characterized by the predisposition to develop both peptic ulcer disease and a wide variety of endocrine tumors usually in adolescence and adulthood. Specifically, hyperplas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::08879d4ec8c248637d59165459b7555a
https://pubmed.ncbi.nlm.nih.gov/21370144
https://pubmed.ncbi.nlm.nih.gov/21370144
Publikováno v:
Archives of Dermatology. 129:1310-1315
Dermatosparaxis is an autosomal recessive connective tissue disorder in animals that is caused by abnormal processing of type I procollagen and results in skin laxity and fragility. Only three humans with characteristic biochemical and electronmicros
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2237746c488f8ad5710526e3231cd573
https://doi.org/10.1001/archderm.129.10.1310
https://doi.org/10.1001/archderm.129.10.1310
Publikováno v:
American journal of medical genetics. 102(1)
Noonan syndrome is a multiple congenital anomaly condition characterized by craniofacial anomalies, short stature, cardiac malformations, and normal peripheral blood karyotype analysis. Prior reports of individuals with Noonan syndrome have revealed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ebf82091d277b172ab3110eae497498e
https://pubmed.ncbi.nlm.nih.gov/11471173
https://pubmed.ncbi.nlm.nih.gov/11471173
Publikováno v:
Cancer research. 61(10)
A subset of childhood and young adult renal cell carcinomas displays a recurrent translocation t(X;17)(p11;q25) as the sole cytogenetic abnormality. In two young girls, we demonstrate that this translocation results in the fusion of a novel gene, des
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::396a0f3511d7a3d036f8fb63fc19a7d3
https://pubmed.ncbi.nlm.nih.gov/11358836
https://pubmed.ncbi.nlm.nih.gov/11358836
Publikováno v:
Genes, chromosomescancer. 29(4)
Breast cancer is a heterogeneous disorder in which most tumors display some degree of aneuploidy, especially those at later stages of the disease. Aneuploidy and associated chromosome instability may be important in the progression of mammary tumorig
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::150dc6d06223dd86321bbc0f2c0e4fdd
https://pubmed.ncbi.nlm.nih.gov/11066082
https://pubmed.ncbi.nlm.nih.gov/11066082
Autor:
S E, Russell, M A, McIlhatton, J F, Burrows, P G, Donaghy, S, Chanduloy, E M, Petty, L M, Kalikin, S W, Church, S, McIlroy, D P, Harkin, G W, Keilty, A N, Cranston, J, Weissenbach, I, Hickey, P G, Johnston
Publikováno v:
Cancer research. 60(17)
Allele losses from chromosome 17 are common in sporadic ovarian tumors. Previously, we reported high rates of LOH (up to 70%) from 17q25 at the marker THH59 in a bank of malignant ovarian tumors. We have extended this study to 70 tumors with 17 marke
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::00e3c772c1a9778be0afa43b35b818e2
https://pubmed.ncbi.nlm.nih.gov/10987277
https://pubmed.ncbi.nlm.nih.gov/10987277
Publikováno v:
Molecular carcinogenesis. 22(4)
The molecular genetic mechanisms underlying esophageal cancer are poorly understood. However, a novel gene that may be involved in esophageal carcinogenesis was recently localized by others to distal 17q by linkage analysis of kindreds with palmoplan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::27a17ac9172ebc5540a1347deb52c6c1
https://pubmed.ncbi.nlm.nih.gov/9726814
https://pubmed.ncbi.nlm.nih.gov/9726814
Publikováno v:
American journal of medical genetics. 76(2)
With recent advances in DNA technology, questions have arisen as to how this technology should be appropriately used. In this article, results obtained from a survey designed to elicit attitudes of college students to prenatal testing and gene therap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ffeebb5308675bd2391371864b8b5b1f
https://pubmed.ncbi.nlm.nih.gov/9511972
https://pubmed.ncbi.nlm.nih.gov/9511972
Publikováno v:
Genes, chromosomescancer. 17(1)
Whole genome analyses of breast tumors with polymorphic markers have detected nonrandom loss of heterozygosity on multiple chromosomes, providing clues to the locations of suspected tumor suppressor genes. Tumors are thought to initiate, progress, an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cd2b965d760b8faeb588cf71df602e7a
https://pubmed.ncbi.nlm.nih.gov/8889509
https://pubmed.ncbi.nlm.nih.gov/8889509
Autor:
S D, Merajver, E M, Petty
Publikováno v:
Clinics in laboratory medicine. 16(1)
Breast cancer susceptibility genes are being isolated at a rapid pace. Current molecular diagnostic techniques are being adapted to detect mutations in the germline and in tumors. The isolation of the breast and ovarian cancer gene 1 (BRCA1) has brou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::796b8e17bc923e3054a987f92ebc3503
https://pubmed.ncbi.nlm.nih.gov/8867588
https://pubmed.ncbi.nlm.nih.gov/8867588