Genomes and Genes
Summary: Identification of genetic carriers for a given trait.
Publications208 found, 100 shown here
- Allelic drop-out in the LDLR gene affects mutation detection in familial hypercholesterolemiaEleftheria 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...
- 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 counselingB 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...
- Cancer Incidence in BRCA1 mutation carriersDeborah 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...
- The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individualsJ 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...
- Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2B 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....
- Molecular characterization of SMN copy number derived from carrier screening and from core families with SMA in a Chinese populationZhu 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....
- 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...
- High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probabilityS 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%...
- GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjectsYu Fen Guo
Department of Otolaryngology Head and Neck Surgery, Second Hospital of Lanzhou University, Lanzhou, China
Acta Otolaryngol 128:297-303. 2008....
- Incorporating medical interventions into carrier probability estimation for genetic counselingHormuzd 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...
- The prevalence and spectrum of thalassemia in Shenzhen, Guangdong Province, People's Republic of ChinaZesong 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...
- Genotype determination at the survival motor neuron locus in a normal population and SMA carriers using competitive PCR and primer extensionB 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...
- Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosomeM 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...
- Large-scale population carrier screening for spinal muscular atrophy in Israel--effect of ethnicity on the false-negative rateRivka 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...
- Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT familiesN 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...
- Determination of SMN1 and SMN2 copy number using TaqMan technologyDirk 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...
- Genetic risk assessment in carrier testing for spinal muscular atrophyShuji 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...
- 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....
- Breast cancer risk in BRCA1 and BRCA2 mutation carriers and polyglutamine repeat length in the AIB1 geneDavid J Hughes
International Agency for Research on Cancer, Lyon, France
Int J Cancer 117:230-3. 2005....
- Cancer risks and mortality in heterozygous ATM mutation carriersDeborah 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...
- Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2Matthew 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...
- Possibilities and barriers in the implementation of a preconceptional screening programme for cystic fibrosis carriers: a focus group studyF 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...
- ShiftDetector: detection of shift mutationsEyal 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...
- Benchmarks for cystic fibrosis carrier screening: a European consensus documentCarlo 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...
- Glutathione S-transferases M1, T1, and P1 and breast cancer: a pooled analysisFlorian 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...
- Preconceptional cystic fibrosis carrier screening: attitudes and intentions of the target populationFrancis 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...
- Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlatesSebastien 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....
- Carrier incidence for spinal muscular atrophy in southern ChineseVivian Chan
University Department of Medicine, Queen Mary Hospital, Pokfulam Road, Hong Kong
J Neurol 251:1089-93. 2004..57%...
- Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 geneIvón 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...
- Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCRTae 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...
- Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation programMarcia 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...
- Beta-thalassaemia carrier detection by ELISA: a simple screening strategy for developing countriesM 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)...
- Prevention of homozygous beta thalassemia by premarital screening and prenatal diagnosis in IndiaParag 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...
- BRCA1 and BRCA2 mutation screening using SmartCycler II high-resolution melt curve analysisScott 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...
- 'It is not in my world': an exploration of attitudes and influences associated with cystic fibrosis carrier screeningBelinda 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...
- Look before you leap. Carrier screening for type 1 Gaucher disease: difficult questionsPascal Borry
Eur J Hum Genet 16:139-40. 2008
- Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in IsraelLina 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...
- 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 IndiansGurjeewan 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...
- Carrier screening for beta-thalassemia during pregnancy in India: a 7-year evaluationRoshan 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...
- Carrier screening for beta-thalassaemia: a review of international practiceNicole E Cousens
Murdoch Childrens Research Institute, Parkville, Victoria, Australia
Eur J Hum Genet 18:1077-83. 2010....
- Population screening and cascade testing for carriers of SMAMelanie Smith
Molecular Genetics Laboratory, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia
Eur J Hum Genet 15:759-66. 2007....
- CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controlsMaren 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...
- Spinal muscular atrophy: newborn and carrier screeningThomas 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...
- HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome EpidemiologyE 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....
- Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometryIna 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...
- CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosisMartin Konrad
Department of Pediatrics, University of Munster, Waldeyerstrasse 22, 48149 Munster, Germany
J Am Soc Nephrol 19:171-81. 2008
- Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratoryCharles 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...
- Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish populationRuth 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...
- 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...
- The BOADICEA model of genetic susceptibility to breast and ovarian cancerA 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...
- BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genesDonald 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....
- Melanocortin 4 receptor gene variation is associated with severe obesity in Pima IndiansLijun 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...
- Carrier frequency of congenital adrenal hyperplasia (21-hydroxylase deficiency) in a middle European populationS 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...
- Knowledge and attitudes toward a free education and Ashkenazi Jewish carrier testing programG 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...
- Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypesPaul F J Koppens
Department of Pediatrics, Erasmus MC Sophia, Rotterdam, The Netherlands
Hum Genet 111:405-10. 2002....
- The influence of HLA class I alleles and heterozygosity on the outcome of human T cell lymphotropic virus type I infectionK 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...
- Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening testYi 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...
- Association of Chlamydia pneumoniae with coronary artery disease and its progression is dependent on the modifying effect of mannose-binding lectinSzabolcs Rugonfalvi-Kiss
3rd Department of Medicine, Faculty of Medicine, Semmelweis University, Budapest, Hungary
Circulation 106:1071-6. 2002....
- Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detectionM 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...
- Selection strength and hitchhiking around two anti-malarial resistance genesDenae 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...
- A mutation causing Alport syndrome with tardive hearing loss is common in the western United StatesD 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...
- Premarital screening for beta-thalassaemia in Southern Iran: options for improving the programmeMehran 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...
- Evaluation of models to predict BRCA germline mutationsH 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...
- 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 deletionH 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...
- X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysisR 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...
- Spinal muscular atrophy in the neonateJennifer 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...
- Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samplesCharles 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...
- Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessmentD 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...
- Clinical and molecular diagnosis of spinal muscular atrophyI 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...
- Preconception cystic fibrosis carrier couple screening: impact, understanding, and satisfactionL 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...
- 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...
- Parents of children with spinal muscular atrophy are not obligate carriers: carrier testing is important for reproductive decision-makingSusan Zeesman
Am J Med Genet 107:247-9. 2002
- Lessons from fragile X regarding neurobiology, autism, and neurodegenerationRandi 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...
- Vascular endothelial growth factor 936 C/T polymorphism in cancer patientsA Eroglu
Ann Oncol 17:1467-8. 2006
- Prevalence of the LRRK2 G2019S mutation in a UK community based idiopathic Parkinson's disease cohortC 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...
- 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...
- Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto RicoY 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...
- Rapid detection of the two common mutations in Ashkenazi Jewish patients with mucolipidosis type IVZ 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...
- Association of mutations in the hemochromatosis gene with shorter life expectancyL 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...
- TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian familiesAbdelaziz 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...
- Challenges for the genetic screening in dysferlin deficiency--report of an instructive case and review of the literatureA Gal
Department of Neurology, Semmelweis University, Budapest, Hungary
Clin Neuropathol 27:289-94. 2008....
- LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotypeMarianne 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...
- Endophenotyping: a window to the pathophysiology of dystoniaSabine Meunier
Neurology 65:792-3. 2005
- Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genesKang Chu
Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA
Bone 37:655-61. 2005..Analysis of ADO2 in our pedigrees indicates that the penetrance is 66%, with a highly variable phenotype...
- Promoter polymorphism of the 5-HT transporter and Alzheimer's diseaseM 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...
- Association of an interleukin 1 alpha polymorphism with Alzheimer's diseaseY 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...
- Homozygosity for the R1268Q mutation in MRP6, the pseudoxanthoma elasticum gene, is not disease-causingD 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...
- CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screeningPhillis Lakeman
Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
Genet Test 12:25-35. 2008....
- Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptorYong 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...
- Mutation analysis of the ROM1 gene in retinitis pigmentosaR A Bascom
Department of Genetics, Hospital for Sick Children, Canada
Hum Mol Genet 4:1895-902. 1995....
- Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort methodYuanjia 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...
- Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutationA 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)...
- Contribution of clinical screening to carrier detection in a large Chinese family with Fabry disease due to a novel alpha-galactosidase A gene deletionL 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...
- Rapid carrier screening using short tandem repeats in the phenylalanine hydroxylase geneR 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...
- Effects of polymorphisms of chemokine receptors on neurodevelopment and the onset of encephalopathy in children with perinatal HIV-1 infectionAntolin 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...
- Symptomatic dysferlin gene mutation carriers: characterization of two casesI 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...
- Supportive evidence for the association between the T102C 5-HTR2A gene polymorphism and schizophrenia: a large-scale case-control and family-based studyV 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...
- [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...
- Friedreich's ataxia: a clinical and genetic analysisP 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...
- Monte Carlo simulation on the effect of different approaches to thalassaemia on gene frequencyF 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...
- Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populationsIris 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...
Research Grants119 found, 100 shown here
- Homogeneous Mutation ScanningCarl 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...
- A general Bayesian polymorphism discovery toolGabor 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 ..
- What about adolescence? Living with genetic riskAllyn 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. ..
- 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? ..
- EVALUATING USE OF GENETIC INFORMATION: A MODEL PROCESSWylie Burke; Fiscal Year: 2003..5. To conduct an evaluation of the model process within a large health care system. ..
- Enhancing Patient Prenatal Education-A Feasibility StudyJames 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. ..
- Genetic Associations with Biased Processing of Emotion Cues in MDDCHRISTOPHER 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. ..
- Genomic Health Care and the Medically UnderservedWylie Burke; Fiscal Year: 2007..abstract_text> ..
- Genetic Associations with Biased Processing of Emotion Cues in MDDCHRISTOPHER 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. ..
- Genomic Health Care and the Medically UnderservedWylie Burke; Fiscal Year: 2007..abstract_text> ..
- Mediterranean Diet and Other Dietary Patterns in Alzheimer's DiseaseNikolaos Scarmeas; Fiscal Year: 2010....
- Motivating Integrity in Research with Human SubjectsWylie Burke; Fiscal Year: 2003..abstract_text> ..
- HEPATIC DRUG TRANSPORTERS IN DRUG DISPOSITIONDan 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. ..
- Inferring Multiple-SNP Disease Association with DNA Resequence DataRasmus 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. ..
- CHARACTERIZATION OF MAPPED HUMAN BAC CLONESVivian 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. ..
- Behavioral and molecular mechanisms of ethanol-induced depressionClyde 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. ..
- Genotype-Phenotype Relationships in Fragile X FamiliesRandi 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. ..
- University of Colorado Parkinson's Disease Clinical Research ProgramMaureen 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. ..
- Age-Related Longitudinal Changes in Aviator PerformanceJerome Yesavage; Fiscal Year: 2007..We plan to test the hypothesis that longitudinal simulator performance can be predicted by measures of cognitive processing speed. ..
- MOLECULAR AND CELLULAR ANALYSIS OF BRAIN ENRICHED PTPSPaul 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. ..
- Stress Resilience in an Animal Model of DepressionRuth 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 ..
- PREVENTION OF GERATRIC DEPRESSIONGeorge Alexopoulos; Fiscal Year: 2003..Accordingly, we are well positioned to meet the challenges inherent in this difficult but important area of research. ..
- Molecular Evolution of Drosophila Y ChromosomeANDREW 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. ..
- Treating Older Patients with Major Depression and Severe COPDGeorge S Alexopoulos; Fiscal Year: 2010....
- Research Fellowship in Geriatric Mood DisordersGeorge 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. ..
- Attention, Memory, and Executive Function in Fragile XDonald Bailey; Fiscal Year: 2006..abstract_text> ..
- Cornell ACISR for Late Life DepressionGeorge 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. ..
- Treating Older Patients with Major Depression and Severe COPDGeorge Alexopoulos; Fiscal Year: 2009....
- ERPs Cognitive Dysfunction and Treatment Response of Geriatric DepressionGeorge 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. ..
- Molecular and Cellular Analysis of Brain Enriched PTP'sPaul 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. ..
- COMPARING THREE ELECTRODE PLACEMENTS TO OPTIMIZE ECTKeith Rasmussen; Fiscal Year: 2005..The results of this study will promote more effective and safer treatment of the most severely ill depressed patients. ..
- PST in Geriatric Depression with Executive DysfunctionGeorge Alexopoulos; Fiscal Year: 2004..Accordingly, we are well positioned to meet the challenges inherent in this difficult but important area of research. ..
- Molecular Mechanisms of Ethanol ReinforcementClyde Hodge; Fiscal Year: 2009..These findings will aid development of pharmacotherapeutics to treat problems associated with alcoholism. ..