heterozygote detection

Summary

Summary: Identification of genetic carriers for a given trait.

Top Publications

  1. ncbi Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia
    Eleftheria Laios
    Unit of Metabolic Diseases, Choremio Research Laboratory, University of Athens, 1st Department of Pediatrics, Aghia Sophia Children s Hospital, Athens 11527, Greece
    Clin Biochem 41:38-40. 2008
  2. pmc Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens
    Elaine A Sugarman
    Genzyme Geneticss SM, Molecular Diagnostic Laboratory, Esoterix Genetic Laboratories, LLC, successor to Genzyme SM Genetics, Westborough, MA 01581, USA
    Eur J Hum Genet 20:27-32. 2012
  3. ncbi Cancer Incidence in BRCA1 mutation carriers
    Deborah Thompson
    Cancer Research UK, Genetic Epidemiology Unit, University of Cambridge, United Kingdom
    J Natl Cancer Inst 94:1358-65. 2002
  4. pmc Carrier screening in individuals of Ashkenazi Jewish descent
    Susan J Gross
    Albert Einstein College of Medicine, Bronx, New York, USA
    Genet Med 10:54-6. 2008
  5. ncbi A universal carrier test for the long tail of Mendelian disease
    Balaji S Srinivasan
    Counsyl, Redwood Shores, CA, USA
    Reprod Biomed Online 21:537-51. 2010
  6. ncbi The prevalence and spectrum of thalassemia in Shenzhen, Guangdong Province, People's Republic of China
    Zesong Li
    Shenzhen YiShengTang Biological Products Co Ltd, Shenzhen, Guangdong, People s Republic of China
    Hemoglobin 30:9-14. 2006
  7. ncbi The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals
    J P Struewing
    Genetic Epidemiology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Genet 11:198-200. 1995
  8. pmc CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis
    Martin Konrad
    Department of Pediatrics, University of Munster, Waldeyerstrasse 22, 48149 Munster, Germany
    J Am Soc Nephrol 19:171-81. 2008
  9. pmc Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)
    C R Newton
    ICI Diagnostics, Northwich, Cheshire, UK
    Nucleic Acids Res 17:2503-16. 1989
  10. pmc Carrier screening for beta-thalassaemia: a review of international practice
    Nicole E Cousens
    Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    Eur J Hum Genet 18:1077-83. 2010

Research Grants

  1. A general Bayesian polymorphism discovery tool
    Gabor Marth; Fiscal Year: 2009
  2. INBORN ERRORS--MOLECULAR ANALYSIS IN CULTURED CELLS
    Leon Rosenberg; Fiscal Year: 1990
  3. Development of Novel Fluorescent Dyes for DNA Sequencing
    MATTHEW MAHINDARATNE; Fiscal Year: 2003
  4. Homogeneous Mutation Scanning
    Carl Wittwer; Fiscal Year: 2006
  5. What about adolescence? Living with genetic risk
    Allyn McConkie Rosell; Fiscal Year: 2005
  6. NEWBORN GENETIC SCREENING:FOR WHOSE BENEFIT?
    Lainie Ross; Fiscal Year: 2005
  7. Genetic Associations with Biased Processing of Emotion Cues in MDD
    CHRISTOPHER BEEVERS; Fiscal Year: 2009
  8. EVALUATING USE OF GENETIC INFORMATION: A MODEL PROCESS
    Wylie Burke; Fiscal Year: 2003
  9. Enhancing Patient Prenatal Education-A Feasibility Study
    James Sorenson; Fiscal Year: 2003
  10. Statistical Methods for Cancer Genes
    Giovanni Parmigiani; Fiscal Year: 2007

Detail Information

Publications218 found, 100 shown here

  1. ncbi Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemia
    Eleftheria Laios
    Unit of Metabolic Diseases, Choremio Research Laboratory, University of Athens, 1st Department of Pediatrics, Aghia Sophia Children s Hospital, Athens 11527, Greece
    Clin Biochem 41:38-40. 2008
    ..Familial hypercholesterolemia is a monogenic disorder caused by mutations in the LDL receptor (LDLR) gene. We observed allelic drop-out during LDLR genotyping and aimed at redesigning mutation detection...
  2. pmc Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens
    Elaine A Sugarman
    Genzyme Geneticss SM, Molecular Diagnostic Laboratory, Esoterix Genetic Laboratories, LLC, successor to Genzyme SM Genetics, Westborough, MA 01581, USA
    Eur J Hum Genet 20:27-32. 2012
    ..5% in the African American population, respectively. This collective experience can be utilized to facilitate accurate pre- and post-test counseling in the settings of carrier screening and prenatal diagnosis for SMA...
  3. ncbi Cancer Incidence in BRCA1 mutation carriers
    Deborah Thompson
    Cancer Research UK, Genetic Epidemiology Unit, University of Cambridge, United Kingdom
    J Natl Cancer Inst 94:1358-65. 2002
    ..To evaluate the risks of other cancers in BRCA1 mutation carriers, we conducted a cohort study of 11 847 individuals from 699 families segregating a BRCA1 mutation that were ascertained in 30 centers across Europe and North America...
  4. pmc Carrier screening in individuals of Ashkenazi Jewish descent
    Susan J Gross
    Albert Einstein College of Medicine, Bronx, New York, USA
    Genet Med 10:54-6. 2008
    ..It may be prudent, however, to document in the patient's record the rationale for any significant deviation from this guideline...
  5. ncbi A universal carrier test for the long tail of Mendelian disease
    Balaji S Srinivasan
    Counsyl, Redwood Shores, CA, USA
    Reprod Biomed Online 21:537-51. 2010
    ..Moreover, given that the assay is inexpensive and requires only a saliva sample, it is now increasingly feasible to make carrier testing a routine part of preconception care...
  6. ncbi The prevalence and spectrum of thalassemia in Shenzhen, Guangdong Province, People's Republic of China
    Zesong Li
    Shenzhen YiShengTang Biological Products Co Ltd, Shenzhen, Guangdong, People s Republic of China
    Hemoglobin 30:9-14. 2006
    ..These results will provide a reference for prenatal testing and genetic counseling in the area...
  7. ncbi The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals
    J P Struewing
    Genetic Epidemiology Branch, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Genet 11:198-200. 1995
    ..9% of Ashkenazim (95% confidence limit, 0.4-1.8%) and in none of the reference samples. Our results suggest that one in a hundred women of Ashkenazi descent may be at especially high risk of developing breast and/or ovarian cancer...
  8. pmc CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis
    Martin Konrad
    Department of Pediatrics, University of Munster, Waldeyerstrasse 22, 48149 Munster, Germany
    J Am Soc Nephrol 19:171-81. 2008
  9. pmc Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)
    C R Newton
    ICI Diagnostics, Northwich, Cheshire, UK
    Nucleic Acids Res 17:2503-16. 1989
    ..Our findings are in complete agreement with allele assignments derived by direct sequencing of PCR products...
  10. pmc Carrier screening for beta-thalassaemia: a review of international practice
    Nicole E Cousens
    Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    Eur J Hum Genet 18:1077-83. 2010
    ....
  11. ncbi Genetic link between Chaoshan and other Chinese Han populations: Evidence from HLA-A and HLA-B allele frequency distribution
    Sheng Ping Hu
    Center for Molecular Biology and Forensic Genetics Laboratory, Shantou University Medical College, Shantou, Guangdong 515031, People s Republic of China
    Am J Phys Anthropol 132:140-50. 2007
    ..The different genetic background between northern and southern China may explain, at least partially, the prevalence of NPC among southern Chinese...
  12. ncbi GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects
    Yu Fen Guo
    Department of Otolaryngology Head and Neck Surgery, Second Hospital of Lanzhou University, Lanzhou, China
    Acta Otolaryngol 128:297-303. 2008
    ....
  13. pmc Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases
    Stuart A Scott
    Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine of New York University, New York, NY 10029, USA
    Hum Mutat 31:1240-50. 2010
    ..Together, these data indicate the general acceptance, carrier frequencies, and prenatal testing results for an expanded panel of 16 diseases in the AJ population...
  14. ncbi Benchmarks for cystic fibrosis carrier screening: a European consensus document
    Carlo Castellani
    Verona Cystic Fibrosis Centre, Italy
    J Cyst Fibros 9:165-78. 2010
    ..The consensus statement also aims to establish the benchmarks for communicating with health care providers, the general public and potential and actual participants before and after the genetic test...
  15. ncbi The influence of HLA class I alleles and heterozygosity on the outcome of human T cell lymphotropic virus type I infection
    K J Jeffery
    Department of Immunology, Imperial College School of Medicine, St Mary s, London, United Kingdom
    J Immunol 165:7278-84. 2000
    ..These results are consistent with the proposal that a strong class I-restricted CTL response to HTLV-I reduces the proviral load and hence the risk of disease...
  16. ncbi Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population
    Kristin G Monaghan
    Department of Medical Genetics, Henry Ford Hospital, Detroit, Michigan, USA
    Genet Med 10:57-72. 2008
    ..They also are advised to take notice of the date any particular standard or guidelines was adopted, and to consider other relevant medical and scientific information that becomes available after that date...
  17. ncbi Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes
    Paul F J Koppens
    Department of Pediatrics, Erasmus MC Sophia, Rotterdam, The Netherlands
    Hum Genet 111:405-10. 2002
    ....
  18. ncbi Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program
    Marcia S Brose
    Department of Medicine and Abramson Family Cancer Research Institute, University of Pennsylvania Cancer Center, Philadelphia 19104, USA
    J Natl Cancer Inst 94:1365-72. 2002
    ..The purpose of this study was to estimate BRCA1-related cancer risks for individuals ascertained in a breast cancer risk evaluation clinic...
  19. pmc X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis
    R J Gibbons
    MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford, U K
    Am J Hum Genet 51:1136-49. 1992
    ..Furthermore, they represent an important step in developing strategies to understand how the mutant ATR-X allele causes mental handicap, dysmorphism, and down-regulation of the alpha-globin genes...
  20. ncbi Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 gene
    David J Hughes
    International Agency for Research on Cancer, Lyon, France
    Int J Cancer 117:230-3. 2005
    ....
  21. pmc The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model
    Daniel H Farkas
    Sequenom Center for Molecular Medicine, Grand Rapids, Michigan 49503, USA
    J Mol Diagn 12:611-9. 2010
    ....
  22. ncbi Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory
    Charles M Strom
    Quest Diagnostics Nichols Institute, 33608 Ortega Highway, San Juan Capistrano, CA 92690, USA
    Genet Med 6:145-52. 2004
    ..To determine the frequency of carriers of Ashkenazi Jewish (AJ) genetic diseases in the US population and compare these numbers with previously published frequencies reported in smaller more isolated cohorts...
  23. ncbi Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population
    Ruth Kornreich
    Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA
    Genet Med 6:415-20. 2004
    ..In addition, the CF mutation frequencies in a group of > 7,000 screenees for AJ diseases who were of < 100% AJ descent are reported...
  24. ncbi Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel
    Orit Reish
    Genetics Institute, Assaf Harofeh Medical Center, Zerifin, Israel
    Genet Med 11:101-3. 2009
    ..A retrospective population study was conducted to determine the carrier frequencies of recently identified mutations in Oriental Jewish cystic fibrosis patients...
  25. ncbi Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome
    M D Mailman
    Department of Pathology, The Ohio State University, Columbus 43210, USA
    Hum Genet 108:109-15. 2001
    ..These findings are important for assessing the recurrence risk of parents of children with spinal muscular atrophy and for providing accurate family counseling...
  26. ncbi Large-scale population carrier screening for spinal muscular atrophy in Israel--effect of ethnicity on the false-negative rate
    Rivka Sukenik-Halevy
    Rabin Medical Center, Recanati Institute of Medical Genetics, Petach Tikva, Israel
    Genet Test Mol Biomarkers 14:319-24. 2010
    ..There is, therefore, a higher prevalence of false negative results in some ethnic groups. The discrepancy between the rates of deletions versus duplications can be explained by the genetic disadvantage of deletions...
  27. pmc Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families
    N Janin
    Institut Gustave Roussy, Villejuif, France
    Br J Cancer 80:1042-5. 1999
    ..However, the increased risk is only a little higher than classical reproductive risk factors and similar to the risk associated with a first-degree relative affected by BC...
  28. pmc Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates
    Sebastien Jacquemont
    M I N D Institute, UC Davis Medical Center, 4860 Y Street, Suite 3020, Sacramento, CA 95817, USA
    Am J Hum Genet 72:869-78. 2003
    ....
  29. ncbi Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2
    B B Roa
    Baylor DNA Diagnostic Laboratory, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Nat Genet 14:185-7. 1996
    ....
  30. ncbi Determination of SMN1 and SMN2 copy number using TaqMan technology
    Dirk Anhuf
    Institute of Human Genetics, RWTH Aachen, Aachen, Germany
    Hum Mutat 22:74-8. 2003
    ..Therefore, determination of SMN1 and SMN2 copy numbers should only be offered after careful consideration in each case...
  31. pmc Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling
    B Wirth
    Institute of Human Genetics, Wilhelmstrasse 31, D 53111 Bonn, Germany
    Am J Hum Genet 64:1340-56. 1999
    ..We determined the validity of the test, and we discuss its practical implications and limitations...
  32. ncbi Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?
    Fuad Fares
    Department of Molecular Genetics, Carmel Medical Center, University of Haifa, Haifa 31905, Israel
    Prenat Diagn 28:236-41. 2008
    ..Therefore, carrier testing of AJ members is important in order to identify couples at risk of having offspring with an autosomal recessive disorder...
  33. pmc Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese population
    Zhu Sheng-Yuan
    Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China
    Eur J Hum Genet 18:978-84. 2010
    ....
  34. pmc Evaluation of models to predict BRCA germline mutations
    H H Kang
    Department of Medical Oncology, St Vincent s Hospital, Sydney, New South Wales, and Familial Cancer Service Westmead Institute for Cancer Research at Westmead Millenium Institute, University of Sydney, Australia
    Br J Cancer 95:914-20. 2006
    ..Use of models for predicting BRCA mutation status is not currently justified for populations such as that evaluated in the current study...
  35. ncbi High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability
    S Veschi
    Center of Excellence on Aging, University G d Annunzio University Foundation, Chieti, Pescara
    Ann Oncol 18:vi86-92. 2007
    ..In our series, the highest carrier detection rate of mutation screening plus MLPA analysis (52.3%) was in patients with a BRCAPro CP >50%...
  36. ncbi Preconception cystic fibrosis carrier couple screening: impact, understanding, and satisfaction
    L Henneman
    Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Genet Test 6:195-202. 2002
    ..The results further suggest that since satisfaction with the screening was high, worries and feeling less healthy due to the test results are probably not a great burden...
  37. pmc Incorporating medical interventions into carrier probability estimation for genetic counseling
    Hormuzd A Katki
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, DHHS, 6120 Executive Blvd, Room 8044 Rockville, MD 20852, USA
    BMC Med Genet 8:13. 2007
    ..Mendelian models should account for medical interventions because interventions modify mutation penetrances and thus affect the carrier probability estimate...
  38. pmc Evaluation of widely used models for predicting BRCA1 and BRCA2 mutations
    F Marroni
    J Med Genet 41:278-85. 2004
  39. ncbi SMA carrier testing--validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion
    H Scheffer
    Department of Medical Genetics, University of Groningen, The Netherlands
    Eur J Hum Genet 8:79-86. 2000
    ..In four out of six SMA patients without a homozygous deletion we detected a hemizygous deletion. The implications of the use of this assay for carrier testing and for confirmation of the clinical diagnosis of SMA are discussed...
  40. pmc A mutation causing Alport syndrome with tardive hearing loss is common in the western United States
    D F Barker
    Department of Physiology, University of Utah Health Sciences Center, Salt Lake City, USA
    Am J Hum Genet 58:1157-65. 1996
    ..Renal failure in an L1649R male typically occurs in the 4th or 5th decade and precedes the onset of significant hearing loss by approximately 10 years...
  41. ncbi Premarital screening for beta-thalassaemia in Southern Iran: options for improving the programme
    Mehran Karimi
    Department of Pediatrics, Hematology Research Center, Shiraz University of Medical Science Shiraz, Iran
    J Med Screen 14:62-6. 2007
    ..beta-thalassaemia is a preventable disease. Iran has about 20,000 homozygote beta-thalassaemia patients and 3,750,000 carriers...
  42. ncbi Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel
    Lina Basel-Vanagaite
    Department of Medical Genetics, Schneider Children s Medical Center of Israel
    Genet Test 12:53-6. 2008
    ..SMA has a carrier frequency of 1:33-1:60 in most populations and should be considered for inclusion in a population-based genetic-screening program...
  43. ncbi Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in India
    Parag M Tamhankar
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, 226014, India
    Prenat Diagn 29:83-8. 2009
    ..To determine the feasibility and acceptability of premarital screening for beta thalassemia/related hemoglobinopathies followed by prenatal diagnosis in India...
  44. ncbi Carrier screening panels for Ashkenazi Jews: is more better?
    Jennifer R Leib
    Neurogenetics Branch, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, Maryland 20892 1156, USA
    Genet Med 7:185-90. 2005
    ....
  45. ncbi Beta-thalassaemia carrier detection by ELISA: a simple screening strategy for developing countries
    M Shyla Ravindran
    Genetic Research Centre, National Institute for Research in Reproductive Health, Mumbai, Maharashtra, India
    J Clin Lab Anal 19:22-5. 2005
    ..In a limited trial for beta-thalassaemia carrier screening, the results obtained with ELISAs were compared with those obtained with the microcolumn chromatography method (r = 0.89)...
  46. pmc Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR
    Tae Mi Lee
    Division of Genetic Disease, Department of Biomedical Sciences, National Institute of Health, Seoul, Korea
    J Korean Med Sci 19:870-3. 2004
    ..Since the prevalence of SMA is higher than other autosomal recessive disorders, the carrier detection method using real-time PCR could be a useful tool for genetic counseling...
  47. ncbi Carrier screening for beta-thalassemia during pregnancy in India: a 7-year evaluation
    Roshan Colah
    Institute of Immunohaematology, KEM Hospital Campus, Parel, Mumbai, India
    Genet Test 12:181-5. 2008
    ..Premarital screening for beta-thalassemia is not widely acceptable in India; hence, we evaluated the effectiveness of antenatal screening and counseling over 7 years...
  48. ncbi Possibilities and barriers in the implementation of a preconceptional screening programme for cystic fibrosis carriers: a focus group study
    F A M Poppelaars
    Department of Clinical Genetics and Human Genetics, VU University Medical Center, De Boelelaan 1117, PO Box 7057, NL 1007 MB, Amsterdam, The Netherlands
    Public Health 117:396-403. 2003
    ..This qualitative study aimed to explore possibilities and barriers in the implementation of a nationwide preconceptional cystic fibrosis (CF) carrier screening programme...
  49. ncbi Carrier incidence for spinal muscular atrophy in southern Chinese
    Vivian Chan
    University Department of Medicine, Queen Mary Hospital, Pokfulam Road, Hong Kong
    J Neurol 251:1089-93. 2004
    ..57%...
  50. ncbi Spinal muscular atrophy: newborn and carrier screening
    Thomas W Prior
    Department of Pathology, The Ohio State University, 125 Hamilton Hall, 1645 Neil Avenue, Columbus, OH 43210, USA
    Obstet Gynecol Clin North Am 37:23-36, Table of Contents. 2010
    ..This article focuses on the prevention of SMA through population carrier screening and newborn screening as a means of ensuring early intervention for SMA...
  51. ncbi Preconceptional cystic fibrosis carrier screening: attitudes and intentions of the target population
    Francis A M Poppelaars
    Department of Clinical Genetics, VU University Medical Center, Amsterdam
    Genet Test 8:80-9. 2004
    ..These results suggest that the offer of routine preconceptional CF carrier screening would lead to substantial acceptance among couples planning a pregnancy. Several variables related with intention were identified...
  52. ncbi Glutathione S-transferases M1, T1, and P1 and breast cancer: a pooled analysis
    Florian D Vogl
    IARC, Lyon, France
    Cancer Epidemiol Biomarkers Prev 13:1473-9. 2004
    ..The results conclusively show that single gene GST polymorphisms do not confer a substantial risk of breast cancer to its carriers. Furthermore, GSTs did not interact with smoking or reproductive history to modify cancer risk...
  53. ncbi Cancer risks and mortality in heterozygous ATM mutation carriers
    Deborah Thompson
    CR UK Genetic Epidemiology Unit, University of Cambridge, Cambridge, UK
    J Natl Cancer Inst 97:813-22. 2005
    ..Several studies have suggested that heterozygous carriers of ATM mutations are at increased risk of breast cancer and perhaps of other cancers, but the precise risk is uncertain...
  54. ncbi Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene
    Ivón Cuscó
    Hospital de Sant Pau, Barcelona, Spain
    Hum Mutat 20:452-9. 2002
    ..The possibility of studying samples from different labs, the versatility and reproducibility of the analysis, and cost-benefit calculations must be considered in the final choice...
  55. ncbi Look before you leap. Carrier screening for type 1 Gaucher disease: difficult questions
    Pascal Borry
    Eur J Hum Genet 16:139-40. 2008
  56. ncbi 'It is not in my world': an exploration of attitudes and influences associated with cystic fibrosis carrier screening
    Belinda J McClaren
    Genetics Education and Health Research, Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, Victoria, Australia
    Eur J Hum Genet 16:435-44. 2008
    ..This study highlights the importance of community consultation, with stakeholders, prior to implementation of carrier screening programmes...
  57. ncbi Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2
    Matthew D Mailman
    Department of Pathology, The Ohio State University, Columbus 43210, USA
    Genet Med 4:20-6. 2002
    ..A novel allele-specific intragenic mutation panel increases the sensitivity of SMN1 testing...
  58. ncbi CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls
    Maren Weischer
    Department of Clinical Biochemistry, Herlev University Hospital, Herlev Ringvej 75, Herlev, Denmark
    J Clin Oncol 26:542-8. 2008
    ..CHEK2*1100delC heterozygosity may be associated with an increased risk of breast cancer; however, it is unclear whether the evidence is sufficient to recommend genotyping in clinical practice...
  59. ncbi HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology
    E H Hanson
    United States Air Force School of Aerospace Medicine, Brooks Air Force Base, San Antonio, TX, USA
    Am J Epidemiol 154:193-206. 2001
    ....
  60. ncbi Genetic risk assessment in carrier testing for spinal muscular atrophy
    Shuji Ogino
    Molecular Pathology Laboratory, Department of Pathology and Laboratory Medicine, University of Pennsylvania Medical Center, Philadelphia, Pennsylvania, USA
    Am J Med Genet 110:301-7. 2002
    ..We present updated calculations for disease and non-disease allele frequencies and we describe how these frequencies can be used for genetic risk assessment in carrier testing for SMA...
  61. ncbi The clinical significance of the spectrum of interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians
    Gurjeewan Garewal
    Department of Haematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
    Eur J Haematol 79:417-21. 2007
    ..To assess the clinical significance of the interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians...
  62. ncbi BRCA1 and BRCA2 mutation screening using SmartCycler II high-resolution melt curve analysis
    Scott D Dufresne
    Department of Pathology, Dartmouth Medical School, Dartmouth Hitchcock Medical Center, Lebanon, NH 03756 0001, USA
    Arch Pathol Lab Med 130:185-7. 2006
    ..Real-time polymerase chain reaction technologies have replaced many of the more labor-intense methods in the molecular diagnostics laboratory. Similarly, melt curve analysis can provide a rapid means of mutation screening...
  63. ncbi Population screening and cascade testing for carriers of SMA
    Melanie Smith
    Molecular Genetics Laboratory, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia
    Eur J Hum Genet 15:759-66. 2007
    ....
  64. ncbi ShiftDetector: detection of shift mutations
    Eyal Seroussi
    Institute of Animal Science, Volcani Center, Bet Dagan 50250, Israel
    Bioinformatics 18:1137-8. 2002
    ..The program calculates a probability score for the existence of such a shift and reconstructs the sequence of the original molecule...
  65. pmc The BOADICEA model of genetic susceptibility to breast and ovarian cancer
    A C Antoniou
    Cancer Research UK, Genetic Epidemiology Unit, Strangeways Research Laboratory, Department of Public Health and Primary Care, Worts Causeway, Cambridge CB1 8RN, UK
    Br J Cancer 91:1580-90. 2004
    ..We conclude that this model provides a rational basis for risk assessment in individuals with a FH of breast or ovarian cancer...
  66. ncbi Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry
    Ina Schymik
    Department of General Pediatrics, University Children s Hospital, Duesseldorf, Germany
    J Pediatr 149:128-30. 2006
    ..An increased C14:1-carnitine level can also occur in heterozygous individuals. Elevated C14:1-carnitine level on neonatal screening warrants further diagnostic workup even if a repeat sample demonstrates normal acylcarnitine levels...
  67. ncbi Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European population
    S M Baumgartner-Parzer
    Department of Internal Medicine III, Medical University of Vienna, A 1090 Vienna, Austria
    J Clin Endocrinol Metab 90:775-8. 2005
    ..In conclusion, the observed CAH carrier frequency of 9.5% suggests a higher prevalence of CAH heterozygosity in a middle European population than hitherto estimated independently of the individuals' Yugoslav or non-Yugoslav origin...
  68. pmc Preconceptional ancestry-based carrier couple screening for cystic fibrosis and haemoglobinopathies: what determines the intention to participate or not and actual participation?
    Phillis Lakeman
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Eur J Hum Genet 17:999-1009. 2009
    ..The effort and time needed for participation were important reasons for declining participation, which might be overcome by improving access to the screening...
  69. ncbi Knowledge and attitudes toward a free education and Ashkenazi Jewish carrier testing program
    G Hegwer
    Center for Genetic Medicine and Graduate Program in Genetic Counseling, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611, USA
    J Genet Couns 15:61-70. 2006
    ..05). In conclusion, this study demonstrated that an educational carrier screening program increased knowledge about the disorders and also produced mild anxiety regarding personal and reproductive risks...
  70. ncbi Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test
    Yi Ning Su
    Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan
    Hum Mutat 25:460-7. 2005
    ..We demonstrated that DHPLC is a fast and reliable tool for detection of carriers of SMA...
  71. pmc Selection strength and hitchhiking around two anti-malarial resistance genes
    Denae Nash
    Southwest Foundation for Biomedical Research SFBR, San Antonio, TX 78245, USA
    Proc Biol Sci 272:1153-61. 2005
    ..However, the lower levels of LD surrounding resistance alleles in populations under weak selection may simplify identification of functional mutations...
  72. ncbi Melanocortin 4 receptor gene variation is associated with severe obesity in Pima Indians
    Lijun Ma
    Clinical Diabetes and Nutrition Section, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Department of Health and Human Services, 4212 N 16th St, Phoenix, AZ 85016, USA
    Diabetes 53:2696-9. 2004
    ..We conclude that variations in MC4R may account for a small portion of obesity in Pima Indians, but they do not explain the overall high prevalence of obesity in this Native American population...
  73. ncbi BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes
    Donald A Berry
    Department of Biostatistics, University of Texas M D Anderson Cancer Center, Houston, TX 77030 4009, USA
    J Clin Oncol 20:2701-12. 2002
    ....
  74. ncbi Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection
    M Lecha
    Department of Dermatology, Facultat de Medicina, Universitat de Barcelona, Spain
    J Eur Acad Dermatol Venereol 20:974-9. 2006
    ..Second, study of carrier status detection in the families, including a four-generation Balearic family. Third, evaluation of the results of carrier detection screening methods...
  75. ncbi Association of Chlamydia pneumoniae with coronary artery disease and its progression is dependent on the modifying effect of mannose-binding lectin
    Szabolcs Rugonfalvi-Kiss
    3rd Department of Medicine, Faculty of Medicine, Semmelweis University, Budapest, Hungary
    Circulation 106:1071-6. 2002
    ....
  76. ncbi Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extension
    B Gerard
    Service de Biochimie Génétique, Hopital Robert Debre, Paris, France
    Hum Mutat 16:253-63. 2000
    ..Finally, as this method does not detect point mutations (4% of SMN1 gene mutations), reliability ranges from 93% to 100% depending on data available from the propositus...
  77. pmc Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment
    D S Reilly
    Howard Hughes Medical Institute, University of Pennsylvania School of Medicine, Philadelphia 19104
    Am J Hum Genet 42:748-55. 1988
    ..Results, when compared with carrier determination by ophthalmologic examination, indicated that the slit-lamp exam can be a sensitive and specific method of carrier determination in many cases...
  78. ncbi Clinical and molecular diagnosis of spinal muscular atrophy
    I Panigrahi
    Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226014, India
    Neurol India 50:117-22. 2002
    ..Application of newer techniques has enabled more accurate carrier detection. Our objective is to stress the variability in the clinical features and recent advances in the molecular diagnosis for SMA...
  79. ncbi Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples
    Charles M Strom
    Molecular Genetics Laboratory, Quest Diagnostics Nichols Institute, San Juan Capistrano, California
    Genet Med 4:289-96. 2002
    ..To determine the accuracy of two commercially available kits for cystic fibrosis (CF) genotyping and determine allele frequencies for the ACMG/ACOG recommended mutations...
  80. ncbi Parents of children with spinal muscular atrophy are not obligate carriers: carrier testing is important for reproductive decision-making
    Susan Zeesman
    Am J Med Genet 107:247-9. 2002
  81. ncbi Spinal muscular atrophy in the neonate
    Jennifer A Markowitz
    Clinical Research Training Program, National Institute of Neurological Diseases and Stroke, Neurogenetics Branch, National Institutes of Health, Bethesda, MD 20892 2178, USA
    J Obstet Gynecol Neonatal Nurs 33:12-20. 2004
    ..The neonatal nurse plays a pivotal role in identifying and caring for these medically fragile infants and in providing support and education for parents and families...
  82. ncbi Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33)
    E Holinski-Feder
    Abteilung Pädiatrische Genetik an der Kinderpoliklinik der Ludwig Maximilians Universität München, Germany
    Am J Med Genet 64:125-30. 1996
    ..4-22.12 between the recombining markers DXS365 and MAOB, including the DMD gene (MRX33). Maximum LOD scores of 2.82 were obtained with markers DMD-STR49, DMD-DysII, CYBB, and DXS1068...
  83. ncbi Familial essential tremor with apparent autosomal dominant inheritance: should we also consider other inheritance modes?
    Shaochun Ma
    Department of Neurology, Vanderbilt University, Nashville, Tennessee, USA
    Mov Disord 21:1368-74. 2006
    ..ET may have a complex etiology. Additional genetic models need to be considered, including an interaction of susceptibility genes and environmental risk factors...
  84. ncbi Symptomatic dysferlin gene mutation carriers: characterization of two cases
    I Illa
    Servei de Neurologia i Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP, Universitat Autonoma, Barcelona, Spain
    Neurology 68:1284-9. 2007
    ..To describe two symptomatic dysferlin gene mutation carriers...
  85. ncbi Prenatal diagnosis and carrier detection for Athabascan severe combined immunodeficiency disease
    Lanying Li
    Department of Pediatrics, University of California San Francisco, San Francisco, CA 84143 1278, USA
    Prenat Diagn 22:763-8. 2002
    ..In this study we compared polymorphic markers linked to SCIDA and the point mutation which creates an NspI site on exon 8 for prenatal diagnosis and carrier detection...
  86. ncbi Supportive evidence for the association between the T102C 5-HTR2A gene polymorphism and schizophrenia: a large-scale case-control and family-based study
    V E Golimbet
    Mental Health Research Center, Russian Academy of Medical Sciences, Zagorodnoe sh, 2 2, Moscow, 117152, Russia
    Eur Psychiatry 22:167-70. 2007
    ..In conclusion, our replication study provides further evidence for association between the 5-HTR2A receptor T102C polymorphism and schizophrenia...
  87. ncbi [Molecular genetic and histopathological examinations for genotype-phenotype analysis in patients with TGFBI-linked corneal dystrophy]
    C Grünauer-Kloevekorn
    Universitätsaugenklinik mit Poliklinik der Martin Luther Universität Halle Wittenberg, Ernst Grube Strasse 40, Halle
    Klin Monbl Augenheilkd 223:829-36. 2006
    ..We report on the mutation spectrum and the genotype-phenotype correlations on the basis of clinical and histopathological examinations of 13 German families with TGFBI-linked corneal dystrophies...
  88. ncbi Friedreich's ataxia: a clinical and genetic analysis
    P Leema Reddy
    New Jersey Neuroscience Institute, JFK Medical Center, 65 James Street, Edison, NJ 08818, USA
    Clin Neurol Neurosurg 109:200-2. 2007
    ..The genetic analysis of the family demonstrates the importance of Southern blot analysis for accurate genotyping which, in turn, has implications for genetic counseling...
  89. ncbi Challenges for the genetic screening in dysferlin deficiency--report of an instructive case and review of the literature
    A Gal
    Department of Neurology, Semmelweis University, Budapest, Hungary
    Clin Neuropathol 27:289-94. 2008
    ....
  90. ncbi Monte Carlo simulation on the effect of different approaches to thalassaemia on gene frequency
    F Habibzadeh
    National Iranian Oil Company Medical Education and Research Centre, Shiraz, Islamic Republic of Iran
    East Mediterr Health J 12:196-203. 2006
    ..No matter which strategy is used, the population gene frequency, in the worst case, will remain constant over time...
  91. ncbi Vascular endothelial growth factor 936 C/T polymorphism in cancer patients
    A Eroglu
    Ann Oncol 17:1467-8. 2006
  92. pmc Prevalence of the LRRK2 G2019S mutation in a UK community based idiopathic Parkinson's disease cohort
    C H Williams-Gray
    Cambridge Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Forvie Site, Robinson Way, Cambridge CB2 2PY, UK
    J Neurol Neurosurg Psychiatry 77:665-7. 2006
    ..The true prevalence of the mutation in idiopathic disease, its penetrance, and the phenotypic heterogeneity of associated cases have important implications for genetic screening in the clinical field...
  93. ncbi Effects of polymorphisms of chemokine receptors on neurodevelopment and the onset of encephalopathy in children with perinatal HIV-1 infection
    Antolin Llorente
    University of Maryland School of Medicine, Mount Washington Pediatric Hospital, 1708 West Rogers Avenue, Suite 1141, Baltimore, MD 21209, USA
    Appl Neuropsychol 13:180-9. 2006
    ..Although possibly a temporary effect, HIV-1 infected children with selected mutant chemokine receptor polymorphims CCR5-39353, 39356, and 39402 may exhibit better neurodevelopmental outcome than children with the wild type allele...
  94. ncbi Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease
    Andrew D Paterson
    Program in Genetics and Genomic Biology, Hospital for Sick Children, Toronto, Ontario, Canada
    Am J Kidney Dis 40:16-20. 2002
    ..Mutations in one of two genes, PKD1 and PKD2, account for the disease in most ADPKD families. Despite the relative high frequency of PKD1 mutant alleles, compound heterozygotes or diseased homozygotes have not been described...
  95. ncbi TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families
    Abdelaziz Tlili
    Laboratoire de Génétique Moléculaire Humaine, Faculte de Medecine de Sfax, Sfax, Tunisie
    Audiol Neurootol 13:213-8. 2008
    ..100C-->T mutation. We detected this mutation in a homozygous state in 2 cases. This study confirms that mutations in the TMC1 gene may be a common cause for autosomal recessive nonsyndromic HI...
  96. ncbi Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IV
    Z H Wang
    Department of Neurology, New York University School of Medicine, NY 10016, USA
    Genet Test 5:87-92. 2001
    ..The modifications described here provide a more facile means of genotyping patients and carriers and expand the possibilities for screening at-risk populations...
  97. ncbi Association of mutations in the hemochromatosis gene with shorter life expectancy
    L Bathum
    Department of Clinical Biochemistry, Odense University Hospital, Sdr Blvd 29, DK 5000 Odense C, Denmark
    Arch Intern Med 161:2441-4. 2001
    ..It is of value in the debate concerning screening for hereditary hemochromatosis to determine the significance of heterozygosity...
  98. ncbi Promoter polymorphism of the 5-HT transporter and Alzheimer's disease
    M Hu
    Laboratory of Biochemistry, Central Institute of Mental Health, J5, 68159, Mannheim, Germany
    Neurosci Lett 294:63-5. 2000
    ..However, given the reported negative findings, we are presently trying to identify diagnostic subgroups for which the 5-HTT promoter polymorphism represents a susceptibility locus...
  99. ncbi Association of an interleukin 1 alpha polymorphism with Alzheimer's disease
    Y Du
    Departments of Pharmacology and Toxicology, Indiana University School of Medicine, Indianapolis, 46202, USA
    Neurology 55:480-3. 2000
    ..The IL-1A(-889) allele 2 polymorphism may be associated with AD pathogenesis...
  100. ncbi CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening
    Phillis Lakeman
    Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
    Genet Test 12:25-35. 2008
    ....
  101. pmc Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population
    Lisa Edelmann
    Department of Human Genetics, Mount Sinai School of Medicine, New York University, Fifth Avenue at 100th Street, New York, NY 10029, USA
    Am J Hum Genet 70:1023-7. 2002
    ..79%, or 1 in 127 individuals (95% CI 0.40%-1.17%). The addition of both AJ mutations causing this neurodegenerative disorder should be considered for prenatal carrier screening in this population...

Research Grants70

  1. A general Bayesian polymorphism discovery tool
    Gabor Marth; Fiscal Year: 2009
    ..We will develop new algorithms for the difficult problem of INDEL detection;integrate heterozygote detection in diploid traces into our software;enhance sensitivity to detect rare alleles;and include a new measure ..
  2. INBORN ERRORS--MOLECULAR ANALYSIS IN CULTURED CELLS
    Leon Rosenberg; Fiscal Year: 1990
    ..disease; and 5) developing molecular tools which will permit early prenatal diagnosis and reliable heterozygote detection for each of these inborn errors of metabolism...
  3. Development of Novel Fluorescent Dyes for DNA Sequencing
    MATTHEW MAHINDARATNE; Fiscal Year: 2003
    ..The work described here could potentially impact the field of DNA sequencing technologies by increasing accuracy and read lengths, reducing costs, and improving heterozygote detection.
  4. Homogeneous Mutation Scanning
    Carl Wittwer; Fiscal Year: 2006
    ..3. Achieve 90% sensitivity and specificity for single base change heterozygote detection in PCR products up to 300 bps in length...
  5. What about adolescence? Living with genetic risk
    Allyn McConkie Rosell; Fiscal Year: 2005
    ..Carrier and at-risk adolescent girls who place a high value on a future parental role will have a lower self-concept than those that do not. ..
  6. NEWBORN GENETIC SCREENING:FOR WHOSE BENEFIT?
    Lainie Ross; Fiscal Year: 2005
    ..OUTCOMES: The major outcomes will be a series of peer-reviewed articles and a full-length book entitled Newborn Genetic Screening: In whose Interest? For whose Benefit? ..
  7. Genetic Associations with Biased Processing of Emotion Cues in MDD
    CHRISTOPHER BEEVERS; Fiscal Year: 2009
    ..Thus, the proposed study should advance our knowledge of the etiological and maintenance processes for MDD and provide specific direction for the design of treatment programs for this serious psychiatric problem. ..
  8. EVALUATING USE OF GENETIC INFORMATION: A MODEL PROCESS
    Wylie Burke; Fiscal Year: 2003
    ..5. To conduct an evaluation of the model process within a large health care system. ..
  9. Enhancing Patient Prenatal Education-A Feasibility Study
    James Sorenson; Fiscal Year: 2003
    ..Based on these data, we will design a RCT to assess ICAI program effectiveness in public health prenatal clinics and private obstetrical practices. ..
  10. Statistical Methods for Cancer Genes
    Giovanni Parmigiani; Fiscal Year: 2007
    ..abstract_text> ..
  11. MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES
    ROBERT DESNICK; Fiscal Year: 2007
    ..It is anticipated that these trainees will continue the tradition of this program by becoming basic and/or clinical researchers in the field of human genetics and mental retardation. [unreadable] [unreadable]..
  12. Gene Expression Phenotype in Autosomal Recessive Disease
    Vivian Cheung; Fiscal Year: 2007
    ..The approach can also be broadened to study the contribution of heterozygosity of recessive diseases to the complex genetic architecture of human diseases and traits. [unreadable] [unreadable]..
  13. Familial Dilated Cardiomyopathy:Genetic Characterization
    Matthew Taylor; Fiscal Year: 2006
    ..In addition, a diverse collection of consultants has been assembled to provide ongoing expertise that is sensitive to the needs of both the research and career development plans of the candidate. ..
  14. Modeling genetically controlled DBH activity in mice
    David Weinshenker; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  15. Mouse Mutagenesis Workshops
    David Beier; Fiscal Year: 2006
    ..Ultimately, this workshop will serve the goal of improving public health by facilitating the generation and utilization of model systems for biomedical investigation. ..
  16. Medical College of Georgia FitKid Project
    Paule Barbeau; Fiscal Year: 2006
    ..abstract_text> ..
  17. Aromatase Inhibitor in Males with Adrenal Hyperplasia
    Kyriakie Sarafoglou; Fiscal Year: 2006
    ..unreadable] [unreadable]..
  18. MOLECULAR GENETICS OF AUTISM
    Thomas Wassink; Fiscal Year: 2006
    ..The WNT2 findings will be further examined in two-independent patient samples. ..
  19. Microevolution of conserved developmental genes
    PAUL HOHENLOHE; Fiscal Year: 2007
    ..Conversely, lack of variation and a negative selection result would suggest that other loci or regulatory pathways are involved in vertebral development. [unreadable] [unreadable] [unreadable]..
  20. Apolipoprotein E Genotype and Cognitive Performance in Breast Cancer Survivors
    Brent Small; Fiscal Year: 2007
    ..In the current proposal, we examine the potential of APOE-e4 genotype, known risk factor for Alzheimer's disease, to predispose breast cancer survivors for poor cognitive outcomes. [unreadable] [unreadable] [unreadable]..
  21. GABAergic molecular pathology in schizophrenia
    Erminio Costa; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable]..
  22. Comparative Functional Genomics of Drosophila Obesity
    Andrew Clark; Fiscal Year: 2009
    ..which particular genes and pathways are most relevant to variation in fat storage homeostasis, and by developing a systems biology approach to make inferences from data that span cellular, endocrine, and whole-organism attributes ..
  23. Mechanism of Disulfiram-Induced Cocaine Abstinence
    David Weinshenker; Fiscal Year: 2009
    ..abstract_text> ..
  24. Role of Plcg1 in Vegf signaling
    Nathan Lawson; Fiscal Year: 2009
    ..Since these signaling mechanisms are evolutionary conserved, the molecules we identify in this proposal represent possible targets for clinical manipulation of pathological blood vessel formation. ..
  25. Automated Storage and Retrieval of Biological Systems
    Dan Roden; Fiscal Year: 2008
    ..Accordingly, this proposal requests a high end instrument to accomplish these goals, and to thereby enable a new era of Personalized Medicine. [unreadable] [unreadable] [unreadable] [unreadable]..
  26. Genetic Analysis of Developmental Mutations
    David Beier; Fiscal Year: 2007
    ..Finally, for a small number of mice, we will attempt to identify the causal locus by positional cloning, with an aim towards developing the most efficient protocols for this. ..
  27. Dimension Reduction Approaches for Genome-wide Association Testing
    Andrew Clark; Fiscal Year: 2008
    ..Of particular interest will be the tuning model parameters to optimize the balance of false positive and false negative inferences. [unreadable] [unreadable] [unreadable] [unreadable]..
  28. Role of DPPI & Serine Proteases in Inflammatory Diseases
    Christine Pham; Fiscal Year: 2007
    ..We also hypothesize that decreased expression of complement regulators in the kidney mav be a determinant that influences the severity of tissue damage in the target organ. ..
  29. LINKAGE DISEQUILIBRIUM AND HUMAN GENETIC STUDIES
    Kenneth Kidd; Fiscal Year: 2008
    ..The data will be made publicly available through ALFRED, an existing Web-accessible database. ..
  30. OMEGA-3 SUPPLMENTATION DECREASES INFLAMMATION AND FETAL OBESITY IN PREGNANCY
    Sylvie Hauguel De Mouzon; Fiscal Year: 2010
    ..Pretiminary data witt also be obtained on fetat body composition in order to later address the prevention of the long term adverse effects (devetopmental programming) of maternal obesity in the developing fetus. ..
  31. Ovarian Cancer and Mismatch Repair Deficiency
    Tuya Pal; Fiscal Year: 2009
    ..abstract_text> ..
  32. Genome-wide analysis of genetic variation and expression.
    Vivian G Cheung; Fiscal Year: 2010
    ..Therefore, the molecular and analytical approaches developed here can be generalized and applied to the study of other quantitative traits in humans, including complex genetic diseases. ..
  33. Genetic Deafness in the Alumni of Gallaudet University
    Kathleen Arnos; Fiscal Year: 2008
    ..unreadable] [unreadable]..
  34. CONTROLS FOR ASSOCIATION STUDIES OF ALCOHOLISM
    Kenneth Kidd; Fiscal Year: 2009
    ..Indications of the importance to alcoholism of different genetic variants and of which haplotypes may harbor cryptic but functionally relevant variation will result from these studies. ..
  35. Disulfiram, DBH, and cocaine-induced anxiety
    David Weinshenker; Fiscal Year: 2005
    ..abstract_text> ..
  36. Epidemiologic Methods: Resistant Nosocomial Infections
    Marc Lipsitch; Fiscal Year: 2004
    ..This will in turn lead to better practices to reduce the incidence of ARNI. ..
  37. APEX: ADIPOSITY PREVENTION BY EXERCISE IN BLACK GIRLS
    Paule Barbeau; Fiscal Year: 2004
    ....
  38. CENTER FOR STUDY OF GROWTH REGULATION IN HUMAN PREGNANCY
    Patrick Catalano; Fiscal Year: 2004
    ..abstract_text> ..
  39. PREVENTIVE ONCOLOGY AWARD
    Anita Kinney; Fiscal Year: 2003
    ..The University of Utah is a major academic institution with many distinguished scientists, and offers an excellent environment for Dr. Kinney to develop her skills and gain additional expertise to accomplish her goals. ..
  40. EFFECTS OF HYPOXIA ON THE CORONARY MICROCIRCULATION
    Barbara Meyrick; Fiscal Year: 2003
    ....
  41. BRCA1 TESTING IN A LARGE AFRICAN AMERICAN KINDRED
    Anita Kinney; Fiscal Year: 2003
    ..abstract_text> ..
  42. TREATMENTS FOR INSOMNIA
    Jerome Yesavage; Fiscal Year: 2003
    ..This five-year application will ultimately include 90 treatment subjects aged >60 years (three groups of 30 each). ..
  43. PREVENTION OF SUICIDE IN THE ELDERLY
    George Alexopoulos; Fiscal Year: 2002
    ..Data will also be collected to document the impact of intervention on patient care, and on physician knowledge, attitudes, and satisfaction and test hypotheses derived from preliminary studies of the three IRCs. ..
  44. GENETIC TESTING AND THE ECONOMICS OF LIFE INSURANCE
    David Asch; Fiscal Year: 2002
    ..abstract_text> ..
  45. PATHOGENESIS OF CHRONIC PULMONARY HYPERTENSION
    Barbara Meyrick; Fiscal Year: 2001
    ..Such studies will contribute to our understanding of the pathogenesis of CPH and ultimately to the development of new and novel therapies for this devastating disease. ..
  46. FORMATION AND SURVIVAL OF RED BLOOD CELLS
    Ernest Beutler; Fiscal Year: 2001
    ..Should these point mutations fail to alter gene transcription, a search will be made for other potential mutations in linkage disequilibrium with the known -5,-8 and -24 polymorphisms, by sequencing upstream through the promotor. ..
  47. A MULTI-FACETED SEARCH FOR AUTISM DISEASE GENES
    Thomas Wassink; Fiscal Year: 2004
    ..Taken together, the training plan and research proposal provide for a breadth of training, the potential for meaningful discovery, and support for the establishment of an independent research career. ..
  48. Perfusion fMRI of Cue-Induced Nicotine Craving
    Teresa Franklin; Fiscal Year: 2005
    ..Thus, research into its neurological underpinnings is critical in guiding the development of behavioral and pharmacological therapies to battle nicotine addiction. ..
  49. Reelin and GAD67 Downregulation
    Erminio Costa; Fiscal Year: 2005
    ....
  50. Views of Privacy of Genetic Information
    Robert Klitzman; Fiscal Year: 2005
    ..The findings of this study can enhance further policy, professional and public education, and future research in this area. ..
  51. FMRI in Pre-Symptomatic PS1-related Alzheimer's Disease
    John Ringman; Fiscal Year: 2005
    ..UCI, with its strong dementia research program, growing MRI capabilities and opportunity to collaborate at the nearby UCLA Brain Imaging Center, is an excellent environment for this endeavor. ..
  52. Lifestyle Activities and Changes in Cognitive Abilities
    Brent Small; Fiscal Year: 2005
    ..The results of the current project should provide direct evidence as to whether engaging in complex lifestyle environments moderate longitudinal declines in cognitive abilities among older adults. ..
  53. A Mouse Model of Gaucher Disease
    Ernest Beutler; Fiscal Year: 2005
    ..In particular, electron microscopy and light microscopy will be used to attempt to demonstrate the development of Gaucher cells in the chimeric mice. ..
  54. CHARACTERIZATION OF MAPPED HUMAN BAC CLONES
    Vivian Cheung; Fiscal Year: 2002
    ..In the process of characterizing the clones, we will also get information that gives us insight into the concordance rate between RH map, genome sequence map and cytogenetic map. ..
  55. HEPATIC DRUG TRANSPORTERS IN DRUG DISPOSITION
    Dan Roden; Fiscal Year: 2006
    ..Moreover, variability in the extent of rifampin-mediated induction of the drug metabolizing enzyme, CYP3A, among subjects with variant OATP-C alleles, will also be tested. [unreadable] [unreadable]..
  56. Light Treatment for Sleep/Wake Disturbances AD
    Jerome Yesavage; Fiscal Year: 2008
    ..Outcome will be documented by objective circadian activity rhythm parameters and standard sleep/wake measures both assessed by actigraphy. ..
  57. Inferring Multiple-SNP Disease Association with DNA Resequence Data
    Rasmus Nielsen; Fiscal Year: 2010
    ..These methods will also be extended to include prior information about molecular mechanisms of gene function, where available, as well as environmental contributions to disease risk. ..
  58. PREVENTION OF GERATRIC DEPRESSION
    George Alexopoulos; Fiscal Year: 2003
    ..Accordingly, we are well positioned to meet the challenges inherent in this difficult but important area of research. ..
  59. Stress Resilience in an Animal Model of Depression
    Ruth Kohen; Fiscal Year: 2004
    ..If our hypothesis is true, it would mean a paradigm shift in our understanding of affective illness that could alter the focus of treatment from the current management of symptoms to their prevention ..
  60. Cornell ACISR for Late Life Depression
    George Alexopoulos; Fiscal Year: 2007
    ..We are confident that our work will both advance scientific knowledge and have a broad impact on the care of depressed, disabled elders. ..
  61. Attention, Memory, and Executive Function in Fragile X
    Donald Bailey; Fiscal Year: 2006
    ..abstract_text> ..
  62. COMPARING THREE ELECTRODE PLACEMENTS TO OPTIMIZE ECT
    Keith Rasmussen; Fiscal Year: 2005
    ..The results of this study will promote more effective and safer treatment of the most severely ill depressed patients. ..
  63. The PTP, STEP, Regulates Amphetamine Actions
    Paul Lombroso; Fiscal Year: 2008
    ..We show preliminary feasibility data on this approach. A complementary set of experiments will study the STEP knock-out mouse that we predict is hypersensitive to stimulant treatment. ..
  64. Acupuncture/Reproductive Hormones/Ovulation/Polycystic
    Lisa Pastore; Fiscal Year: 2007
    ..g., normal insulin, smaller body mass index) are more responsive to acupuncture therapy. We will also compare enrollment strategies for population-based recruitment of women into an acupuncture clinical trial. [unreadable] [unreadable]..
  65. Body size and breast cancer risk in a multiethnic population
    Esther John; Fiscal Year: 2007
    ..unreadable] [unreadable]..
  66. Molecular Pathology of Cardic Arrhythmias
    Dan Roden; Fiscal Year: 2003
    ..abstract_text> ..
  67. CENTRAL MECHANISMS OF ETHANOL DISCRIMINATION
    Clyde Hodge; Fiscal Year: 2003
    ..The long range goal of these studies is to determine the specific brain mechanisms that mediate the subjective stimulus effects of alcohol with the hope of identifying novel targets for drug therapy in alcohol abuse and alcoholism. ..