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. 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
  3. 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
  4. ncbi 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
  5. 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
  6. ncbi 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
  7. 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
  8. ncbi Look before you leap. Carrier screening for type 1 Gaucher disease: difficult questions
    Pascal Borry
    Eur J Hum Genet 16:139-40. 2008
  9. ncbi 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
  10. 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

Research Grants

  1. Homogeneous Mutation Scanning
    Carl Wittwer; Fiscal Year: 2006
  2. A general Bayesian polymorphism discovery tool
    Gabor Marth; Fiscal Year: 2009
  3. What about adolescence? Living with genetic risk
    Allyn McConkie Rosell; Fiscal Year: 2005
  4. Genomic Health Care and the Medically Underserved
    Wylie Burke; Fiscal Year: 2007
  5. Motivating Integrity in Research with Human Subjects
    Wylie Burke; Fiscal Year: 2003
  6. EVALUATING USE OF GENETIC INFORMATION: A MODEL PROCESS
    Wylie Burke; Fiscal Year: 2003
  7. Enhancing Patient Prenatal Education-A Feasibility Study
    James Sorenson; Fiscal Year: 2003
  8. Genetic Associations with Biased Processing of Emotion Cues in MDD
    CHRISTOPHER BEEVERS; Fiscal Year: 2009
  9. Genomic Health Care and the Medically Underserved
    Wylie Burke; Fiscal Year: 2007
  10. Genetic Associations with Biased Processing of Emotion Cues in MDD
    CHRISTOPHER BEEVERS; Fiscal Year: 2007

Detail Information

Publications189 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. 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
    ....
  3. 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...
  4. ncbi 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...
  5. 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...
  6. ncbi 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
    ....
  7. 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...
  8. ncbi Look before you leap. Carrier screening for type 1 Gaucher disease: difficult questions
    Pascal Borry
    Eur J Hum Genet 16:139-40. 2008
  9. ncbi 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...
  10. 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...
  11. 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...
  12. 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%...
  13. 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...
  14. 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...
  15. ncbi 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...
  16. 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...
  17. 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...
  18. ncbi 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...
  19. 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
    ....
  20. 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
    ....
  21. 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...
  22. 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...
  23. 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...
  24. 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
    ..CONCLUSIONS: These results indicate that infection with C pneumoniae leads mainly to the development and progression of severe CAD in patients with variation in the MBL gene...
  25. 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...
  26. 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
    ..CONCLUSIONS: As the number of AJ diseases increases, progressively more individuals will be identified as carriers of at least one disease...
  27. 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...
  28. 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...
  29. ncbi 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...
  30. ncbi 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...
  31. 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...
  32. 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
    ....
  33. ncbi CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis
    Martin Konrad
    Department of Pediatrics, , Waldeyerstrasse 22, , Germany
    J Am Soc Nephrol 19:171-81. 2008
  34. 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...
  35. 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...
  36. ncbi 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...
  37. 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...
  38. 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...
  39. 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
    ....
  40. 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...
  41. 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...
  42. 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...
  43. 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...
  44. 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
    ..As a proof of principle, we used this assay to identify the 3 most common BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population...
  45. ncbi 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...
  46. 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
  47. 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
    ....
  48. ncbi 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...
  49. 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...
  50. 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...
  51. 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...
  52. ncbi Fanconi anemia in Ashkenazi Jews
    David I Kutler
    Department of Otolaryngology, New York University Medical Center, New York, USA
    Fam Cancer 3:241-8. 2004
    ..6174delT in FANCD1/BRCA2 are also unique to the Ashkenazi Jewish population. Therefore, the study of Fanconi anemia can lend insight into the types of cancer-predisposing genetic diseases specific to the Ashkenazi...
  53. ncbi Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations
    Iris Schrijver
    Department of Pathology, L235, Stanford University Medical Center, 300 Pasteur Drive, Stanford, CA 94305, USA
    J Mol Diagn 7:375-87. 2005
    ..The arrayed primer extension array, based on a platform technology for disease detection with multiple applications, is a robust, cost-effective, and easily modifiable assay suitable for CF carrier screening and disease detection...
  54. ncbi 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...
  55. ncbi The expanding phenotype of cystic fibrosis
    Janine M Smith
    Med J Aust 181:514. 2004
  56. 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...
  57. ncbi 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...
  58. 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...
  59. 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...
  60. ncbi An intronic mutation causes long QT syndrome
    Li Zhang
    LDS Hospital, Salt Lake City, Utah 84103, USA
    J Am Coll Cardiol 44:1283-91. 2004
    ..The purpose of this research was to determine whether an intronic variant (T1945+6C) in KCNH2 is a disease-causing mutation, and if expanded phenotyping criteria produce improved identification of long QT syndrome (LQTS) patients...
  61. ncbi Contribution of clinical screening to carrier detection in a large Chinese family with Fabry disease due to a novel alpha-galactosidase A gene deletion
    L S Ro
    Department of Neurology, Chang Gung Memorial Hospital and University, Taipei, Taiwan
    Eur J Neurol 14:493-7. 2007
    ..We also report a novel large deletion spanning across the joint of Alu repetitive elements in introns 1 and 2 with resultant exon 2 deletion in a Chinese family with Fabry disease...
  62. ncbi Vascular endothelial growth factor 936 C/T polymorphism in cancer patients
    A Eroglu
    Ann Oncol 17:1467-8. 2006
  63. ncbi Molecular genotyping of the Italian cohort of patients with hemophilia B
    Donata Belvini
    Dipartimento di Laboratorio, Servizio Trasfusionale, Centro Regionale per le Malattie del Sangue e Presidio Regionale Malattie Rare per le Coagulopatie Congenite, Castelfranco Veneto Hospital, 31033 Castelfranco Veneto TV, Italy
    Haematologica 90:635-42. 2005
    ..The aim of the study, funded by the Italian Ministry of Health, was to identify the causative mutation in all known patients with hemophilia B in Italy...
  64. ncbi LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype
    Marianne Schwartz
    Department of Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Neurology 64:1635-7. 2005
    ..A point mutation, L276I has been found in all patients with LGMD2I studied so far. The authors screened for this mutation in 102 sporadic cases of Duchenne/Becker mutation-negative patients and found 13 patients with LGMD2I...
  65. ncbi Endophenotyping: a window to the pathophysiology of dystonia
    Sabine Meunier
    Neurology 65:792-3. 2005
  66. 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...
  67. 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...
  68. ncbi Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort
    Haifa Hichri
    , , Strasbourg, France
    Eur J Hum Genet 13:607-16. 2005
    ..This study underlines the genetic heterogeneity of the BBS and the involvement of possibly unidentified genes...
  69. ncbi Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation
    A C Bruni
    Regional Neurogenetic Centre, Lamezia Terme, CZ, Italy
    Neurology 69:140-7. 2007
    ..Frontotemporal dementia (FTD) in several 17q21-linked families was recently explained by truncating mutations in the progranulin gene (GRN)...
  70. 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...
  71. ncbi New ABCC6 gene mutations in German pseudoxanthoma elasticum patients
    Doris Hendig
    Institut fur Laboratoriums und Transfusionsmedizin, Herz und Diabeteszentrum Nordrhein Westfalen, Universitatsklinik, der Ruhr Universität Bochum, 32545 Bad Oeynhausen, Germany
    J Mol Med (Berl) 83:140-7. 2005
    ..However, a genotype-phenotype correlation could not be established for the detected ABCC6 mutations. In summary, our data give a further insight into the spectrum of ABCC6 mutations in PXE patients...
  72. ncbi Lessons from fragile X regarding neurobiology, autism, and neurodegeneration
    Randi J Hagerman
    Department of Pediatrics, M I N D Institute, University of California Davis Health System, Sacramento, California 95817, USA
    J Dev Behav Pediatr 27:63-74. 2006
    ..The neurobiology and pathophysiology of FXS and FXTAS are described in detail...
  73. ncbi Early onset may predict G101W CDKN2A founder mutation carrier status in Ligurian melanoma patients
    Michela Mantelli
    Dipartimento di Oncologia, Biologia e Genetica, Universita di Genova, V le Benedetto XV, 6, 16132 Genova, Italy
    Melanoma Res 14:443-8. 2004
    ..Early age at onset may be a good predictor of CDKN2A mutation in Liguria, where the G101W founder mutation is prevalent among melanoma patients, independent of family history...
  74. 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...
  75. ncbi Preconception and prenatal cystic fibrosis carrier screening of African Americans reveals unanticipated frequencies for specific mutations
    Kristin G Monaghan
    Department of Medical Genetics, Henry Ford Hospital, 2799 West Grand Boulevard, CFP 466, Detroit, MI 48202, USA
    Genet Med 6:141-4. 2004
    ..We analyzed the carrier and mutant allele frequencies for African Americans undergoing CF carrier screening in our laboratories...
  76. 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
    ..CONCLUSION: Given a 25% chance for mutant homozygosity in the offspring of this family, our findings suggest that homozygosity of PKD1 mutations in humans is embryonically lethal, as recently documented in Pkd1 knockout mice...
  77. ncbi Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology
    Timothy M Olson
    Department of Medicine, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA
    Circulation 105:2337-40. 2002
    ..Autosomal dominant hypertrophic cardiomyopathy (HCM) is caused by inherited defects of sarcomeric proteins. We tested the hypothesis that homozygosity for a sarcomeric protein defect can cause recessive HCM...
  78. ncbi Reliability of DHPLC in mutational screening of beta-globin (HBB) alleles
    Alessia Colosimo
    CSS Mendel Institute, Rome, Italy
    Hum Mutat 19:287-95. 2002
    ..Compared to classical approaches of mutation screening, this method allows a rapid, highly sensitive, cost-effective, and semi-automated simultaneous mutational scanning of a large number of samples...
  79. ncbi 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...
  80. 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...
  81. 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...
  82. 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
    ....
  83. ncbi Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
    Y Anikster
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Genet 28:376-80. 2001
    ..We also present an allele-specific assay for diagnosing individuals heterozygous or homozygous for this mutation...
  84. ncbi Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes
    Kang Chu
    Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA
    Bone 37:655-61. 2005
    ..CONCLUSIONS: Chromosome 9q21-22 may harbor a modifier gene(s) that affect(s) ADO2 disease status and severity. Additionally, we find the associations between the polymorphisms on the non-disease allele and unaffected gene carrier status...
  85. 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...
  86. 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...
  87. ncbi Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causing
    D P Germain
    Département de génétique, Universite Paris VI, Paris, France
    Biochem Biophys Res Commun 274:297-301. 2000
    ..These data indicate that the R1268Q variant in the MRP6 gene does not cause PXE per se. Further studies will elucidate if it may play a role when found in compound heterozygotes...
  88. ncbi Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method
    Yuanjia Wang
    Department of Biostatistics, Mailman School of Public Health, New York, New York, USA
    Arch Neurol 65:467-74. 2008
    ..To estimate the risk of Parkinson disease (PD) in individuals with mutations in the Parkin gene...
  89. ncbi Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor
    Yong Won Cho
    Department of Neurology, Dongsan Medical Center, Keimyung Medical Center, Keimyung University, Daegu, Republic of Korea
    Epilepsy Behav 13:361-5. 2008
    ..The absence of clear motor features of NFLE in the daughter emphasizes the shortcomings of current clinical criteria and the potential for genetic testing to further guide clinical diagnostic criteria...
  90. 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
    ....
  91. ncbi Mutation analysis of the ROM1 gene in retinitis pigmentosa
    R A Bascom
    Department of Genetics, Hospital for Sick Children, Canada
    Hum Mol Genet 4:1895-902. 1995
    ....
  92. 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
    ....
  93. ncbi Hereditary hemochromatosis: detection of C282Y and H63D mutations in HFE gene by means of guthrie cards in population of Czech Republic
    Marketa Cimburova
    Center of Preventive Medicine, Division of Health of Children and Youth, Third Faculty of Medicine, Charles University, Prague, Czech Republic
    Genet Epidemiol 23:260-3. 2002
    ..039 and 0.142, respectively. The observed genotype frequencies for both C282Y and H63D mutations in the Czech Republic are in the range of values reported for other Central and Western European populations...
  94. 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
    ....
  95. ncbi The beta-thalassemia mutation/haplotype distribution in the moroccan population
    Wafaa Lemsaddek
    Laboratorio de Genetica Molecular, Faculdade de Ciencias e Tecnologia, Universidade Nova de Lisboa, Caparica, Portugal
    Hemoglobin 28:25-37. 2004
    ....
  96. ncbi Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay
    Annette Feigenbaum
    Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, The University of Toronto, Toronto, Canada
    Am J Med Genet A 124:142-7. 2004
    ..Twenty-five carriers were found from 1,423 samples yielding a carrier rate of 1:57, differing from the widely quoted frequency of 1:40 and supporting our observed frequency of disease...
  97. ncbi Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD)
    M M O Tonini
    Human Genome Research Center, Departamento de Biologia, , , 05508-900, , Brazil
    Neuromuscul Disord 14:33-8. 2004
    ..The gender difference in clinical manifestation as well as the observation that asymptomatic carriers are not rare should be taken into consideration in genetic counseling of affected patients or 'at-risk' relatives...
  98. ncbi Rapid carrier screening using short tandem repeats in the phenylalanine hydroxylase gene
    R M Shawky
    Department of Paediatrics, Genetics Centre, Ain-Shams University, Cairo, Egypt
    East Mediterr Health J 8:49-54. 2002
    ..The most frequent allelic fragment size in PKU patients was 246 bp (35.7%), which together with a fragment of 254 bp accounted for 60.7% of the mutant chromosomes...
  99. ncbi Anion exchanger 1 mutations associated with distal renal tubular acidosis in the Thai population
    Pa thai Yenchitsomanus
    Division of Medical Molecular Biology, Department of Research and Development, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand
    J Hum Genet 48:451-6. 2003
    ....
  100. ncbi Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions
    I Ching Chou
    Pediatrics Neurology, China Medical College Hospital, Taichung, Taiwan
    Epilepsia 44:1089-93. 2003
    ..The CHRNA4 gene may have a role in the development of febrile convulsions (FCs), the majority of childhood seizures. This study assessed the distribution of genotypes of CHRNA4 in patients with FCs...
  101. ncbi Clinical manifestations in Israeli cystinuria patients and molecular assessment of carrier rates in Libyan Jewish controls
    Roy Sidi
    Danek Gartner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel
    Isr Med Assoc J 5:439-42. 2003
    ..CONCLUSION: Mutations in SLC3A1 and SLC7A9 cystinuria patients result in indistinguishable disease manifestations. The high carrier rate among Libyan Jews is a result of a single missense mutation, V170M...

Research Grants116 found, 100 shown here

  1. 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...
  2. 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 ..
  3. 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. ..
  4. Genomic Health Care and the Medically Underserved
    Wylie Burke; Fiscal Year: 2007
    ..abstract_text> ..
  5. Motivating Integrity in Research with Human Subjects
    Wylie Burke; Fiscal Year: 2003
    ..abstract_text> ..
  6. 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. ..
  7. 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. ..
  8. 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. ..
  9. Genomic Health Care and the Medically Underserved
    Wylie Burke; Fiscal Year: 2007
    ..abstract_text> ..
  10. Genetic Associations with Biased Processing of Emotion Cues in MDD
    CHRISTOPHER BEEVERS; Fiscal Year: 2007
    ..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. ..
  11. Mediterranean Diet and Other Dietary Patterns in Alzheimer's Disease
    Nikolaos Scarmeas; Fiscal Year: 2010
    ....
  12. Molecular Evolution of Drosophila Y Chromosome
    ANDREW G contact CLARK; Fiscal Year: 2010
    ..The proposed study entails primary discovery of most of the Y- linked genes across a group of 12 species and a detailed study of their evolutionary divergence. ..
  13. 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. ..
  14. 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. ..
  15. Genotype-Phenotype Relationships in Fragile X Families
    Randi Hagerman; Fiscal Year: 2005
    ..D., including the serotonin receptor (5-HTT), and the GABA receptor (GABRB3) which are associated with autism, and ApoE and tau haplotypes associated with neurodegeneration. ..
  16. Behavioral and molecular mechanisms of ethanol-induced depression
    Clyde Hodge; Fiscal Year: 2007
    ..This information may be of major significance for the development of therapies that may benefit depression and alcoholism, as well as establishing the molecular basis of the interaction of these two mental diseases. ..
  17. University of Colorado Parkinson's Disease Clinical Research Program
    Maureen Leehey; Fiscal Year: 2007
    ..In summary, the PD clinical research team and clinical study program at the UCMDP is able to contribute significantly to the development and execution of the proposed NIH/NINDS PD Neuroprotection Trial. ..
  18. Age-Related Longitudinal Changes in Aviator Performance
    Jerome Yesavage; Fiscal Year: 2007
    ..We plan to test the hypothesis that longitudinal simulator performance can be predicted by measures of cognitive processing speed. ..
  19. 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. ..
  20. MOLECULAR AND CELLULAR ANALYSIS OF BRAIN ENRICHED PTPS
    Paul Lombroso; Fiscal Year: 2003
    ..We will identify the physiological substrates of STEP, one of which is proposed to be the NMDA receptor. We will these these hypotheses using biochemical, molecular, and electrophysiological techniques. ..
  21. 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. ..
  22. 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 ..
  23. Attention, Memory, and Executive Function in Fragile X
    Donald Bailey; Fiscal Year: 2006
    ..abstract_text> ..
  24. ERPs Cognitive Dysfunction and Treatment Response of Geriatric Depression
    George Alexopoulos; Fiscal Year: 2007
    ..Such patients could be targeted for a vigilant clinical follow-up and a comprehensive treatment plan including a plan for successive pharmacological trials. ..
  25. Research Fellowship in Geriatric Mood Disorders
    George Alexopoulos; Fiscal Year: 2007
    ..Beyond a Core Curriculum, we guide and support our trainees in conducting their own research studies, in preparing competitive funding applications, and in publishing data-based papers. ..
  26. 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. ..
  27. Molecular and Cellular Analysis of Brain Enriched PTP's
    Paul J Lombroso; Fiscal Year: 2010
    ..The proposed studies examine the molecular mechanisms that regulate STEP activity and will clarify how this important family of regulatory proteins are involved in synaptic plasticity, cell death, and human disease. ..
  28. Treating Older Patients with Major Depression and Severe COPD
    George Alexopoulos; Fiscal Year: 2009
    ....
  29. Treating Older Patients with Major Depression and Severe COPD
    George S Alexopoulos; Fiscal Year: 2010
    ....
  30. 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. ..
  31. PST in Geriatric Depression with Executive Dysfunction
    George Alexopoulos; Fiscal Year: 2004
    ..Accordingly, we are well positioned to meet the challenges inherent in this difficult but important area of research. ..
  32. Molecular Mechanisms of Ethanol Reinforcement
    Clyde Hodge; Fiscal Year: 2009
    ..These findings will aid development of pharmacotherapeutics to treat problems associated with alcoholism. ..
  33. PATHOGENESIS OF CHRONIC PULMONARY HYPERTENSION
    Barbara Meyrick; Fiscal Year: 1993
    ..Such information will contribute to our understanding of the pathogenesis of CPH and ultimately to development of novel therapies for treatment of this devastating disease...
  34. NALTREXONE AND COGNITIVE BEHAVIOR THERAPY OF ALCOHOLISM
    Raymond Anton; Fiscal Year: 1993
    ....