3
3
2
2
4
4
2
2
5
5
3
3
6
6
2
2
2
2
3
3
2019
2008
Company (58)University (11)Research Institution (4)Hospital (1)
1 - 10 of 58
Sort by
Patent
Publication NumberUS 20190300955Filing StatusPatent ApplicationAvailabilityUnknownFiling Date2019-02-25Publication Date2019-10-03
Provided herein are methods and compositions for the detection of silent carriers of chromosomal deletion alleles in a human subject using haploid cells (e.g., sperm cells or egg cells) derived from the subject. The methods provided herein allow for the detection of silent (2+0) carriers of SMA, where the individual has a deletion of the SMN1 gene on one chromosome 5 homolog and two or more copies of the SMN1 gene on the other chromosome 5 homolog.
Patent
Publication NumberUS 10227650Filing StatusIssued PatentAvailabilityUnknownFiling Date2015-11-13Publication Date2019-03-12
Provided herein are methods and compositions for the detection of silent carriers of chromosomal deletion alleles in a human subject using haploid cells (e.g., sperm cells or egg cells) derived from the subject. The methods provided herein comprise quantitative nucleic acid amplification reactions and determination of a ratio of a target gene to a reference gene, and indicate that a subject is a silent carrier of a null allele corresponding to the target gene if the ratio is at or below a thr…
Patent
Publication NumberCA 2872385 CFiling StatusIssued PatentAvailabilityUnknownFiling Date2004-04-08Publication Date2019-01-15
The subject invention relates to nucleic acid sequences for detection of mutations in a PKD-1 or PKD-2 gene, as well as biomarkers for ADPKD. The invention further relates to methods for diagnosing ADPKD in an individual, and kits for performing the methods of the invention. The invention also provides a method for determining in an individual the presence or absence of a mutant PKD gene.
Patent
Publication NumberCA 2635343 CFiling StatusIssued PatentAvailabilityUnknownFiling Date2007-01-22Publication Date2018-05-15
Patent
Publication NumberCA 2658421 CFiling StatusIssued PatentAvailabilityUnknownFiling Date2007-07-24Publication Date2018-03-20
The present invention relates to methods of detecting novel mutations in a PKD1 and/or PKD2 gene that have been determined to be associated with autosomal dominant polycystic kidney disease (ADPKD) in order to detect or predict the occurrence of ADPKD in an individual.
Patent
Publication NumberUS 20170166970Filing StatusPatent ApplicationAvailabilityUnknownFiling Date2017-02-21Publication Date2017-06-15
Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2.
Patent
Publication NumberUS 9611512Filing StatusIssued PatentAvailabilityUnknownFiling Date2014-07-11Publication Date2017-04-04
Methods of identifying polymorphisms associated with ataxia-ocular apraxia 2 (AOA2), are described. The polymorphisms associated with AOA2 include specific mutations in the senataxin (SETX) gene. Also described are methods of diagnosis of AOA2, as well as methods of assessing an individual for carrier status for AOA2.
Patent
Publication NumberUS 20160253452Filing StatusPatent ApplicationAvailabilityUnknownFiling Date2014-10-22Publication Date2016-09-01
Provided are methods and systems for determining the clinical significance of a genetic variant. The methods entail determining, for the variant, (a) a function score based on known impact of the variant on a biological function of a cell or protein, (b) a frequency score based on the frequency of the variant in a population, (c) a co-occurrence score based on how the variant co-occurs with a reference variant having known clinical significance relating to a clinical disease or condition, and…
Patent
Publication NumberEP 3061020 A1Filing StatusPatent ApplicationAvailabilityUnknownFiling Date2014-10-22Publication Date2016-08-31
Patent
Publication NumberWO 2016077750 A1Filing StatusPatent ApplicationAvailabilityUnknownFiling Date2015-11-13Publication Date2016-05-19
Provided herein are methods and compositions for the detection of silent carriers of chromosomal deletion alleles in a human subject using haploid cells (e.g., sperm cells or egg cells) derived from the subject. The methods provided herein allow for the detection of silent (2+0) carriers of SMA, where the individual has a deletion of the SMN1 gene on one chromosome 5 homolog and two or more copies of the SMN1 gene on other chromosome 5 homolog.
We found 58 documents that match your Search
Patents: 57
SEC Filings: 1

Wellspring Search is the world's most comprehensive collection of enriched content about emerging and licensable technology innovations.


Already a member? Sign in