Abstract: An object of the present invention is to provide a test/diagnosis method for fertility which allows the estimation of the possibility of leading to pregnancy based on the ability of sperm to fuse with an egg and the identification of a cause of infertility; and a polynucleotide and a fertility testing kit which are used in the method.

Abstract: The invention provides tandem single nucleotide polymorphisms and methods for their use, for example, in diagnosing Down Syndrome.

Abstract: The present disclosure relates to methods for the diagnosis and evaluation of neoplastic disorders, particularly non-small cell lung cancer. Assays are described in which patient test samples are analyzed for the presence of one or more specific EML4-ALK fusion genes associated with neoplastic disorders.

Abstract: The present technology relates to genetic products the expression of which is associated with cancer diseases. The present technology also relates to the therapy and diagnosis of diseases in which the genetic products are expressed or aberrantly expressed, in particular cancer diseases.

Abstract: Methods of diagnosis and treatment of diseases and disorders related to de novo synthesis of cholesterol, based on allelic variants of the scavenger receptor class B type I receptor, and kits for use therein.

Abstract: Described herein is the identification of 68 genes with an elevated frequency of somatic mutations in melanoma. Nine genes were identified that exhibited recurring mutations in melanoma. The TRRAP gene was mutated at nucleotide 2165 (C2165T) in six different melanoma tumor samples. In addition, 16 genes were identified that were highly mutated in melanoma samples. The most highly mutated gene identified was GRIN2A, which was mutated in 34% of melanoma tumor samples. The study disclosed herein identified 34 different nonsynonymous somatic mutations in GRIN2A among 36 melanoma tumor samples. Provided is a method of diagnosing a subject as having melanoma or susceptible to developing melanoma by detecting one or more mutations in the TRRAP or GRIN2A genes. Further provided is a method of selecting an appropriate therapy for a subject diagnosed with melanoma by detecting the presence or absence of a mutation in TRRAP or GRIN2A.

Abstract: This invention provides methods and compositions useful for detecting autoimmune disorders.

Abstract: The present invention aims to provide a method for determining breast cancer susceptibility, in which a DNA copy number polymorphism associated with breast cancer susceptibility is identified and determination is made based on an increase or decrease in the DNA copy number polymorphism. The present invention attempts to achieve this by performing microarray assay using the peripheral blood of sporadic breast cancer patients, identifying a DNA copy number polymorphism associated with breast cancer susceptibility in a chromosomal region, detecting the number of copies of the above DNA copy number polymorphism by quantitative PCR, and then determining breast cancer susceptibility based on an increase or decrease in the DNA copy number polymorphism.

Abstract: The present disclosure provides methods and compositions for diagnosis and for providing a prognosis of a cancer patient by assessing CK2 alpha 1 pseudogene (CSNK2A1P) status. The present disclosure also provides polypeptide, polynucleotide, host cell, and transgenic animal compositions associated with CSNK2A1P.

Abstract: The present invention relates to a method, in particular an in vitro method for identifying natural killer cells of a mammal, which often express the surface proteins CD 16 and/or CD56, comprising analyzing the methylation status of at least one CpG position in the CX3CR1 and/or FGR and/or NKG7 and/or GNLY genes, in particular their upstream regulatory regions, and in particular the promoter and other conserved regions of the genes CX3CR1 and/or FGR and/or NKG7 and/or GNLY, wherein a demethylation of at least one CpG in the analyzed sample to at least 70% is indicative for CD56 expressing NK cells, which might also be CD8+ or CD8?, CD56 dim or bright, CD 16+ or CD 16? NK cells. The methods of the present invention are useful for the detection and quality assurance and control of NK cells. Furthermore, the present invention relates to a kit for performing the above methods as well as respective uses of the inventive methods or kits.

Abstract: The invention provides methods and kits useful for predicting or assessing responsiveness of B-cell lymphoma to treatment with anti-CD40 antibodies.

Abstract: The disclosure relates to probes for detecting a polymorphism in the IL28B gene and in the ITPA gene, and methods of use thereof.

Abstract: This document relates to methods and materials for using nucleic acid and amino acid sequence variants of ribonucleic acid binding motif protein 20 (RBM20). For example, methods and materials for using nucleic acid sequence variants and/or their corresponding amino acid variants of RBM20 that are associated with dilated cardiomyopathy to identify mammals (e.g., humans) at risk of having dilated cardiomyopathy that is likely to progress to heart failure are provided.

Abstract: The present invention relates to modified and genomic sequences, to oligonucleotides and/or PNA-oligomers for detecting the cytosine methylation state of genomic DNA, as well as to a method for predicting the disease free survival and/or response of a subject with a cell proliferative disorder of the breast tissues, to endocrine treatment.

Abstract: The invention relates to methods and assays for the detection of active Alternative Lengthening of Telomeres (ALT) activity in cells. The methods and assays involve detecting or assaying for partially double-stranded telomeric circles wherein the presence of said circles is specific for cells comprising an active ALT mechanism. In some embodiments the methods find application in, inter alia, determining the level of ALT activity in a cell, determining the ALT status of a cancer in a subject, diagnosing and/or treating disease, determining disease status, analysis of treatment efficacy, and the identification of novel therapeutic agents.

Abstract: The invention provides methods and compositions useful for detecting autoimmune disorders.

Abstract: The invention provides to methods for diagnosing eye-length related disorders, including myopia. The invention also provides methods for treating and limiting eye-length related disorders, including myopia. In addition, the invention provides certain haplotypes associated with eye-length related disorders, including myopia and Bornholm Eye Disease.

Abstract: Aspects of the present invention include methods, compositions and kits for classifying a subject as having or being predisposed to a hematolymphoid neoplasm or malignancy if they harbor a mutation in the LNK gene. Aspects of the present invention also include screening for candidate agents for treating LNK mutation-based hematolymphoid neoplasms or malignancies in cell-based and cell free assays as well as therapeutic compositions for treating a LNK-mutant based hematolymphoid disorder. Also provided are compositions, systems, kits and computer program products that find use in practicing the subject methods.

Abstract: The present invention relates to a method for the specific detection and/or identification of Staphylococcus species, in particular Staphylococcus aureus, using new nucleic acid sequences derived from the ITS (Internal Transcribed Spacer) region. The present invention relates also to said new nucleic acid sequences derived from the ITS region, between the 16S and 23S ribosomal ribonucleic acid (rRNA) or rRNA genes, to be used for the specific detection and/or identification of Staphylococcus species, in particular of S. aureus, in a biological sample. It relates also to nucleic acid primers to be used for the amplification of said spacer region of Staphylococcus species in a sample.

Abstract: This invention relates to a composition, kit, or DNA chip for use in diagnosis of esophageal cancer, which comprises a plurality of polynucleotides selected from the group consisting of polynucleotides whose expression levels are varied in esophageal cancer tissues obtained from esophageal cancer patients when compared with cancer-free esophageal tissues obtained from esophageal cancer patients, mutants thereof, and fragments thereof, and to a method for detecting esophageal cancer using the composition, kit, or DNA chip.