Výsledky vyhledávání - "Marvin N. Schwalb"

An oligonucleotide based array-CGH system for detection of genome wide copy number changes including subtelomeric regions for genetic evaluation of mental retardation

Autor: James Dermody, Marvin N. Schwalb, Gokce Altay Toruner, Deanna Streck

Publikováno v: American Journal of Medical Genetics Part A. :824-829

Developmental delay (DD) and mental retardation (MR) are important child heath issues with a one percent prevalence. Karyotyping with or without subtelomeric FISH (fluorescent in situ hybridization), unless the phenotype of the patient suggests a spe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05a9fcf5f368e4e2113dbff178591055
https://doi.org/10.1002/ajmg.a.31656

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Gene expression after crush injury of human saphenous vein: Using microarrays to define the transcriptional profile1

Autor: Patricia Soteropoulos, Ray M. Price, John J. Castronuovo, Nirman Tulsyan, James Dermody, Marvin N. Schwalb

Publikováno v: Journal of the American College of Surgeons. 199:411-418

Background Vein graft stenosis is believed to be the pathophysiologic response of vascular tissue to injury and is the major cause of vein graft failure. Therapeutic interventions might improve with knowledge of the physiologic pathways involved in t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::aaf910883d1da16edaae600d94a9830d
https://doi.org/10.1016/j.jamcollsurg.2004.04.023

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Cancer Genetics Knowledge and Beliefs and Receipt of Results in Ashkenazi Jewish Individuals Receiving Counseling for BRCA1/2 Mutations

Autor: Monica L. Marvin, Kimberly M. Kelly, Howard Leventhal, Jill Baran, Marvin N. Schwalb, Deborah Toppmeyer

Publikováno v: Cancer Control. 11:236-244

Background Genetic counseling for BRCA1 and BRCA2 mutations (mutations associated with increased risk of breast-ovarian cancer) endeavors to communicate information that will help individuals make informed decisions regarding genetic testing. Methods

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eea1e5d24f38439e3ed70ce30ee608bc
https://doi.org/10.1177/107327480401100405

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Subjective and Objective Risks of Carrying a BRCA1/2 Mutation in Individuals of Ashkenazi Jewish Descent

Autor: Monica L. Marvin, Judy Much, Jill Baran, Deborah Toppmeyer, Kimberly M. Kelly, Marvin N. Schwalb, Howard Leventhal, James Dermody

Publikováno v: Journal of Genetic Counseling. 12:351-371

This repeated measures study examines (1) the change in subjective risk of mutations pre- to postcounseling, (2) the accuracy of BRCAPRO estimates of mutations, and (3) the discrepancy between subjective risk and BRCAPRO estimates of mutations before

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13189db007e2ce83a7b7828eb017c6e3
https://doi.org/10.1023/a:1023905106360

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A second Middle Eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9

Autor: Orhan Cura, Marvin N. Schwalb, Fazil Apaydin, Uwe Braendle, Hans-Peter Zenner, Tolga Kandogan, Suzanne M. Leal, Metin Iber, Emilia Vitale, Carol Barnwell, Markus Pfister

Publikováno v: European Journal of Human Genetics. 6:341-344

WOS: 000075537300007
PubMed ID: 9781041
A second kindred has been identified which supports the previously reported location of DFNB9. Linkage has been established to markers closely linked to DFNB9 which is located on 2p22-p23. The hearing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d49fa328cbd260e01aa3a86ce57f079c
https://doi.org/10.1038/sj.ejhg.5200201

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Copy number variations in three children with sudden infant death

Autor: Robert J. Wallerstein, S. Twersky, P. G. Pearson, Marvin N. Schwalb, Rohini Kurvathi, Gokce Altay Toruner, Lawrence N. Shulman, R. Tozzi, R. Sugalski

Publikováno v: Clinical genetics. 76(1)

Sudden death of an infant is a devastating event that needs an explanation. When an explanation cannot be found, the case is labeled as sudden infant death syndrome or unclassified sudden infant death. The influence of genetic factors has been recogn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e84446642cb7b78efa865fce9eeb2ce8
https://pubmed.ncbi.nlm.nih.gov/19659761

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Arvanil and anandamide up-regulate CD36 expression in human peripheral blood mononuclear cells

Autor: Anna Maria Malfitano, Marvin N. Schwalb, Luciano De Petrocellis, Patrizia Gazzerro, Gokce Altay Toruner, Davide Eletto, Maurizio Bifulco, Seema Husain, Pierangelo Orlando, Emilia Vitale, C. Laezza, Alexandra Terskiy

Publikováno v: 16th Symposium on the Cannabinoids of the International Cannabinoid Research Society, Tihany, 2006
info:cnr-pdr/source/autori:A.M. Malfitano, G.A. Toruner, C. Laezza, S. Husain, P. Gazzerro, D. Eletto, P. Orlando, L. De Petrocellis, A. Terskiry, M. Schwalb, E. Vitale, M. Bifulco/congresso_nome:16th Symposium on the Cannabinoids of the International Cannabinoid Research Society,/congresso_luogo:Tihany/congresso_data:2006/anno:2006/pagina_da:/pagina_a:/intervallo_pagine
16th Symposium on the Cannabinoids of the International Cannabinoid Research Society, pp. 169–169, Tihany, Hungary, 2006
info:cnr-pdr/source/autori:A.M. Malfitano, G.A. Toruner, C. Laezza, S. Husain, P. Gazzerro, D. Eletto, P. Orlando, L. De Petrocellis, A. Terskiry, M. Schwalb, E. Vitale, M. Bifulco/congresso_nome:16th Symposium on the Cannabinoids of the International Cannabinoid Research Society/congresso_luogo:Tihany, Hungary/congresso_data:2006/anno:2006/pagina_da:169/pagina_a:169/intervallo_pagine:169–169
Immunology letters 109 (2007): 145–154. doi:10.1016/j.imlet.2007.02.004
info:cnr-pdr/source/autori:Malfitano AM, Toruner GA, Gazzerro P, Laezza C, Husain S, Eletto D, Orlando P, De Petrocellis L, Terskiy A, Schwalb M, Vitale E, Bifulco M./titolo:Arvanil and anandamide up-regulate CD36 expression in human peripheral blood mononuclear cells./doi:10.1016%2Fj.imlet.2007.02.004/rivista:Immunology letters/anno:2007/pagina_da:145/pagina_a:154/intervallo_pagine:145–154/volume:109
Immunology letters 15 (2007): 145–154. doi:10.1016/j.imlet.2007.02.004
info:cnr-pdr/source/autori:Malfitano A M., Toruner G A., Gazzerro P., Laezza C.,Husain S., Eletto D., Orlando P., De Petrocellis L., Terskiy A.,Schwalb M., Vitale E., Bifulco M./titolo:Arvanil and anandamideup-regulate CD36 expression in human peripheral blood mononuclearcells./doi:10.1016%2Fj.imlet.2007.02.004/rivista:Immunology letters/anno:2007/pagina_da:145/pagina_a:154/intervallo_pagine:145–154/volume:15

In this study we analysed the regulation of gene expression by arvanil and anandamide in human peripheral blood mononuclear cells (PBMCs) to clarify their immunosuppressive properties. PBMCs were activated, leading to CD36 down regulation, that was n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a52965d37ab5be9af2b885fcbd2ed20e
http://www.cnr.it/prodotto/i/106373

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The decision to test in women receiving genetic counseling for BRCA1 and BRCA2 mutations

Autor: Michael A. Andrykowski, Kimberly M. Kelly, Marvin N. Schwalb, Monica L. Marvin, Jill Baran, Howard Leventhal, Deborah Toppmeyer, James Dermody, Judie Much

Publikováno v: Journal of genetic counseling. 13(3)

Functions of genetic counseling include provision of risk information and provision of support in an effort to assist with decision making. This study examines (1) the relationship among intentions to test, self-reported provision of blood sample, an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7087647362bd70b17a36ad15b230b8a6
https://pubmed.ncbi.nlm.nih.gov/15604634

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Using the common sense model to understand perceived cancer risk in individuals testing for BRCA1/2 mutations

Autor: Jill Baran, Michael A. Andrykowski, Kimberly M. Kelly, Monica L. Marvin, James Dermody, Judy Much, Marvin N. Schwalb, Deborah Toppmeyer, Howard Leventhal

Publikováno v: Psycho-oncology. 14(1)

The common sense model posits that individuals' understanding of illness is based upon somatic symptoms and life experiences and thus may differ significantly from the biomedical view of illness. The current study used the common sense model to under

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::042950bd337b4fe34a164cdfe0044dc7
https://pubmed.ncbi.nlm.nih.gov/15386791

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Subjective and objective risk of breast cancer in Ashkenazi Jewish individuals at risk for BRCA1/2 mutations

Autor: Howard Leventhal, James Dermody, Monica L. Marvin, Deborah Toppmeyer, Jill Baran, Kimberly M. Kelly, Marvin N. Schwalb, Judith Much

Publikováno v: Genetic testing. 8(2)

The aims of the study were to (1) examine the differences between subjective and objective estimates of the risk of breast cancer in those being tested for BRCA1/2 mutations, (2) explore new ways to conceptualize risk, and (3) examine the change in s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9a170c5ac3b068c427ad9c50316dfe2
https://pubmed.ncbi.nlm.nih.gov/15345111

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