Prevention of Tay-Sachs disease - Wikipedia
Kaback MM, Zieger RS (1972). "Heterozygote detection in Tay-Sachs disease: A prototype community screening program for the ... Kaback developed and later automated an enzyme assay test (first reported in 1969 by OBrien) for detecting heterozygotes ( ...
https://en.wikipedia.org/wiki/Prevention_of_Tay%E2%80%93Sachs_disease
Macromolecular conjugates of cystic fibrosis transmembrane conductance regulator protein inhibitors and uses therefor -...
Takeda et al., "Detection of Cholera Enterotoxin Activity in Suckling Hamsters" Infection and Immunity 19(2): 752-754, 1978. ... Gabriel et al., "Cystic Fibrosis Heterozygote Resistance to Cholera Toxin in the Cystic Fibrosis Mouse Model," Science 266:107- ...
http://www.patentgenius.com/patent/8552067.html
Enhanced dexamethasone resistance in cystic fibrosis cells: potential use for heterozygote detection and prenatal diagnosis |...
Enhanced dexamethasone resistance in cystic fibrosis cells: potential use for heterozygote detection and prenatal diagnosis ... Enhanced dexamethasone resistance in cystic fibrosis cells: potential use for heterozygote detection and prenatal diagnosis ... Enhanced dexamethasone resistance in cystic fibrosis cells: potential use for heterozygote detection and prenatal diagnosis ... Enhanced dexamethasone resistance in cystic fibrosis cells: potential use for heterozygote detection and prenatal diagnosis ...
http://science.sciencemag.org/content/201/4351/180 Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles | Science
Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles ... Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles ... Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles ... Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles ...
http://science.sciencemag.org/content/172/3983/572
Radioimmunoassay and heat denaturation enzyme assay for the detection of Tay-sachs heterozygotes during pregnancy.
Heterozygotes for the disease are usually identified by their relatively low ratio of heat-labile HEX A to total hexosaminidase ... Heterozygote Detection / methods*. Hexosaminidase A. Hexosaminidases / blood*. Humans. Isoenzymes / blood*. Male. Pregnancy. ... Heterozygotes for the disease are usually identified by their relatively low ratio of heat-labile HEX A to total hexosaminidase ... During pregnancy an intermediate isoenzyme (HEX I) increases in activity in serum and obscures the heterozygote status. HEX I ...
http://www.biomedsearch.com/nih/Radioimmunoassay-heat-denaturation-enzyme-assay/6453673.html
Detection of Hypoxanthine Guanine Phosphoribosyl Transferase Heterozygotes by Thin Layer Chromatography and Autoradiography |...
Detection of Hypoxanthine Guanine Phosphoribosyl Transferase Heterozygotes by Thin Layer Chromatography and Autoradiography. ... Page T., Bakay B., Nyhan W.L. (1984) Detection of Hypoxanthine Guanine Phosphoribosyl Transferase Heterozygotes by Thin Layer ... Such mosaicism has been demonstrated in populations of cultured fibroblasts and in hair root follicles of heterozygotes (4,5). ...
https://link.springer.com/chapter/10.1007/978-1-4684-4553-4_52
Inheritance of bovine dwarfism and the detection of heterozygotes - Hilgardia - University of California, Agriculture and...
Breeders definitely, though unconsciously, favor the heterozygote in the selection of sires. The dwarf gene in the heterozygous ... Inheritance of bovine dwarfism and the detection of heterozygotes. Authors. P. W. Gregory. C. B. Roubicek. F. D. Carroll. P. O ... Inheritance of bovine dwarfism and the detection of heterozygotes. Hilgardia 22(13):407-450. DOI:10.3733/hilg.v22n13p407 ... Breeders definitely, though unconsciously, favor the heterozygote in the selection of sires. The dwarf gene in the heterozygous ...
http://hilgardia.ucanr.edu/Abstract/?a=hilg.v22n13p407
Genetic Atypical Hemolytic-Uremic Syndrome - GeneReviews® - NCBI Bookshelf
Carrier (Heterozygote) Detection. Carrier testing for at-risk relatives requires prior identification of the pathogenic ... Heterozygotes are usually asymptomatic. Rare cases of heterozygotes developing aHUS in adulthood have been reported [Caprioli ... Heterozygotes (carriers) are usually asymptomatic. Rare cases of heterozygotes developing aHUS in adulthood have been reported ... Autosomal recessive inheritance: Heterozygotes are usually asymptomatic; however, in rare cases, heterozygotes develop aHUS in ...
https://www.ncbi.nlm.nih.gov/books/NBK1367/ PINK1 Type of Young-Onset Parkinson Disease - GeneReviews® - NCBI Bookshelf
Carrier (Heterozygote) Detection. Carrier testing for at-risk relatives requires prior identification of the PINK1 pathogenic ... Heterozygotes. Individuals with a heterozygous PINK1 pathogenic variant usually remain asymptomatic but may show subtle ... The risk to heterozygotes of developing symptoms is not yet determined; however, several individuals with parkinsonism who have ... The risk to heterozygotes of developing symptoms is not yet determined, although several individuals with parkinsonism who have ...
https://www.ncbi.nlm.nih.gov/books/NBK26472/
Targeted Sequencing by Sanger Sequencing | Thermo Fisher Scientific - MX
Heterozygote Detection & Resequenicng (SNP-based) S. S. S. S. S. S. A. ... Heterozygote Detection & Resequenicng (SNP-based) S. S. S. S. S. S. A. ... Heterozygote Detection & Resequenicng (SNP-based) S. S. S. S. S. S. A. ... Heterozygote Detection & Resequenicng (SNP-based) S. S. S. S. S. S. A. ...
https://www.thermofisher.com/mx/en/home/life-science/sequencing/dna-sequencing/targeted-sequencing/targeted-sequencing-sanger-sequencing.html
MoBEES - Department of Biology - Western University
Heterozygote Detection. *Confirmatory Sequencing. *Mutation Analysis. *Allele Identification. *SNP Scoring. *Microsatellite ...
https://www.uwo.ca/biology/research/biology_facilities/mobees.html Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis.
Heterozygote Detection. Humans. Infant. Male. Pedigree. Recurrence. From MEDLINE®/PubMed®, a database of the U.S. National ...
http://www.biomedsearch.com/nih/Autosomal-recessive-inheritance-benign-recurrent/7677155.html![PDF] Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with...](data:image/png;base64,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)
PDF] Identical point mutations of the R-type pyruvate kinase (PK) cDNA found in unrelated PK variants associated with...
Reliable co-segregation analysis for prenatal diagnosis and heterozygote detection in Gaucher disease.. Bru Cormand, Magdalena ...
https://www.semanticscholar.org/paper/Identical-point-mutations-of-the-R-type-pyruvate-in-Kanno-Fujii/eef618acbe71904fcea85c73bd6f8108401d6311 DNA mutations - Humpath.com - Human pathology
heterozygote detection 28 March 2007 * DNA mutation datation 7 October 2003 * mutation detection 7 October 2003 DNA mutation ...
http://www.humpath.com/spip.php?rubrique48 WikiGenes - DEGS1 - delta(4)-desaturase, sphingolipid 1
Heterozygote detection in MLD. allelic mutations at the ARA locus. Farrell, D.F. Hum. Genet. (1981) [Pubmed] ... The detection of heterozygotes for MLD based on enzyme assays of a general population is highly unreliable [13]. ...
https://www.wikigenes.org/e/gene/e/8560.html
Patent US20020102586 - Massive parallel method for decoding DNA and RNA - Google Patents
The high resolution allows accurate digital mutation and heterozygote detection. Another advantage of sequencing with mass ... leading to heterozygote detection difficulty, the MS approach disclosed in this application produces very high resolution of ... Detection of the unique label will yield the sequence identity of the nucleotide. Upon removing the label and the 3′-OH capping ... This template is chosen to explore the use of the sequencing system for the detection of clustered hot soot single base ...
http://www.google.com/patents/US20020102586?dq=inassignee:integral+inassignee:peripherals Applied Biosystems Genetic Analysis Systems | Thermo Fisher Scientific - US
Heterozygote detection & resequenicng (SNP-based) S. S. S. S. S. S. S. A. ...
https://www.thermofisher.com/us/en/home/life-science/sequencing/sanger-sequencing/sanger-sequencing-technology-accessories.html.html Go to Allelic inactivation of the pseudoautosomal gene SYBL1 is controlled by epigenetic mechanisms common to the X and Y...
Heterozygote Detection; Histones/chemistry/metabolism; Hybrid Cells; Lymphocytes/chemistry/metabolism/virology; Membrane ...
http://www.igmm.cnrs.fr/publication/allelic-inactivation-of-the-pseudoautosomal-gene-sybl1-is-controlled-by-epigenetic-mechanisms-common-to-the-x-and-y-chromosomes/
Genetic Counseling and Neonatal Screening for Cystic Fibrosis: An Assessment of the Communication Process | Articles |...
1990) The cystic fibrosis gene: medical and social implications for heterozygote detection. JAMA 263:2777-2783. ... heterozygote. *Abbreviations:. CF = cystic fibrosis • IRT = immunoreactive trypsinogen • CFTR = cystic fibrosis transmembrane ... For sickle cell anemia, evidence suggests that communicating carrier or trait status to parents of heterozygote infants is of ... Therefore, these infants are CF heterozygote carriers and accounted for 0.2% of the total screened. Immediately after the sweat ...
https://pediatrics.aappublications.org/content/107/4/699?ijkey=ca7f1ee934900354f2d037493a69fe9fed0da3de&keytype2=tf_ipsecsha
Cystinosis Clinical Presentation: History, Physical, Causes
An improved method for heterozygote detection of cystinosis, using polymorphonuclear leukocytes. Am J Hum Genet. 1987 Aug. 41(2 ... The parents of patients with cystinosis are obligate heterozygotes for cystinosis; they each carry a single gene for the ...
https://emedicine.medscape.com/article/981650-clinical