FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3201301400> ?p ?o ?g. }

• W3201301400 endingPage "71" @default.
• W3201301400 startingPage "63" @default.
• W3201301400 abstract "Is there a simple and effective method for male patients with genetic disorders in families with no identified haplotype and with Robertsonian translocations to avoid the transfer of embryos carrying translocated chromosomes?Single spermatozoa were separated to identify by next-generation sequencing (NGS) those that were genetically abnormal, to establish a sperm-based single-nucleotide polymorphism (SNP) haplotype. Blastocysts that developed to day 5 or 6 were then biopsied for whole genome amplification and screening for chromosomal aneuploidy. Normal embryos were selected by comparison with a single-sperm-based SNP haplotype and were transferred. The results were verified by second trimester amniocentesis.Two blastocysts obtained from patients with neurofibroma type 1 (NF1) were found to be normal after NGS according to single-sperm-based SNP haplotype analysis (13 SNP sites). Three and one blastocysts, respectively, were obtained from the patients with Robertsonian translocation. Blastocysts B9 and B7 were found to be normal after NGS according to the single-sperm-based SNP haplotype analysis (12 and 13 SNP sites selected on chromosomes 14 and 22 for the first patient; 12 and 9 SNP sites selected on chromosomes 13 and 14 for the second patient). Successful pregnancies after blastocyst transfer occurred in all three patients. The identification of embryos was verified by mid-trimester amniocentesis. All three patient couples successfully delivered healthy babies.This study preliminarily summarized the process of single-sperm-based SNP haplotyping, which could be applied as preimplantation genetic testing for male patients without identified disease-causing haplotypes and with Robertsonian translocations." @default.
• W3201301400 created "2021-09-27" @default.
• W3201301400 creator A5031692289 @default.
• W3201301400 creator A5033759838 @default.
• W3201301400 creator A5050667259 @default.
• W3201301400 creator A5056986214 @default.
• W3201301400 creator A5064460181 @default.
• W3201301400 date "2022-01-01" @default.
• W3201301400 modified "2023-10-17" @default.
• W3201301400 title "The clinical application of single-sperm-based single-nucleotide polymorphism haplotyping for PGT of patients with genetic diseases" @default.
• W3201301400 cites W1493909984 @default.
• W3201301400 cites W1588313514 @default.
• W3201301400 cites W1803809895 @default.
• W3201301400 cites W1974290681 @default.
• W3201301400 cites W1978222675 @default.
• W3201301400 cites W1980424927 @default.
• W3201301400 cites W1982495238 @default.
• W3201301400 cites W1993394888 @default.
• W3201301400 cites W1995729196 @default.
• W3201301400 cites W2029249719 @default.
• W3201301400 cites W2072957894 @default.
• W3201301400 cites W2119115947 @default.
• W3201301400 cites W2123599028 @default.
• W3201301400 cites W2160952541 @default.
• W3201301400 cites W2235180752 @default.
• W3201301400 cites W2282117013 @default.
• W3201301400 cites W2405331440 @default.
• W3201301400 cites W2468677197 @default.
• W3201301400 cites W2581151735 @default.
• W3201301400 cites W2597841734 @default.
• W3201301400 cites W2618189314 @default.
• W3201301400 cites W2754416812 @default.
• W3201301400 cites W2756096021 @default.
• W3201301400 cites W2803270084 @default.
• W3201301400 cites W2804010373 @default.
• W3201301400 cites W3020279152 @default.
• W3201301400 cites W4248578796 @default.
• W3201301400 doi "https://doi.org/10.1016/j.rbmo.2021.09.008" @default.
• W3201301400 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/34862136" @default.
• W3201301400 hasPublicationYear "2022" @default.
• W3201301400 type Work @default.
• W3201301400 sameAs 3201301400 @default.
• W3201301400 citedByCount "2" @default.
• W3201301400 countsByYear W32013014002023 @default.
• W3201301400 crossrefType "journal-article" @default.
• W3201301400 hasAuthorship W3201301400A5031692289 @default.
• W3201301400 hasAuthorship W3201301400A5033759838 @default.
• W3201301400 hasAuthorship W3201301400A5050667259 @default.
• W3201301400 hasAuthorship W3201301400A5056986214 @default.
• W3201301400 hasAuthorship W3201301400A5064460181 @default.
• W3201301400 hasConcept C104317684 @default.
• W3201301400 hasConcept C122060243 @default.
• W3201301400 hasConcept C135763542 @default.
• W3201301400 hasConcept C138626823 @default.
• W3201301400 hasConcept C139275648 @default.
• W3201301400 hasConcept C153209595 @default.
• W3201301400 hasConcept C196843134 @default.
• W3201301400 hasConcept C197754878 @default.
• W3201301400 hasConcept C2777688143 @default.
• W3201301400 hasConcept C2778278907 @default.
• W3201301400 hasConcept C2778805741 @default.
• W3201301400 hasConcept C2779234561 @default.
• W3201301400 hasConcept C2780458022 @default.
• W3201301400 hasConcept C2781087480 @default.
• W3201301400 hasConcept C30481170 @default.
• W3201301400 hasConcept C53226629 @default.
• W3201301400 hasConcept C54355233 @default.
• W3201301400 hasConcept C86803240 @default.
• W3201301400 hasConceptScore W3201301400C104317684 @default.
• W3201301400 hasConceptScore W3201301400C122060243 @default.
• W3201301400 hasConceptScore W3201301400C135763542 @default.
• W3201301400 hasConceptScore W3201301400C138626823 @default.
• W3201301400 hasConceptScore W3201301400C139275648 @default.
• W3201301400 hasConceptScore W3201301400C153209595 @default.
• W3201301400 hasConceptScore W3201301400C196843134 @default.
• W3201301400 hasConceptScore W3201301400C197754878 @default.
• W3201301400 hasConceptScore W3201301400C2777688143 @default.
• W3201301400 hasConceptScore W3201301400C2778278907 @default.
• W3201301400 hasConceptScore W3201301400C2778805741 @default.
• W3201301400 hasConceptScore W3201301400C2779234561 @default.
• W3201301400 hasConceptScore W3201301400C2780458022 @default.
• W3201301400 hasConceptScore W3201301400C2781087480 @default.
• W3201301400 hasConceptScore W3201301400C30481170 @default.
• W3201301400 hasConceptScore W3201301400C53226629 @default.
• W3201301400 hasConceptScore W3201301400C54355233 @default.
• W3201301400 hasConceptScore W3201301400C86803240 @default.
• W3201301400 hasFunder F4320321001 @default.
• W3201301400 hasFunder F4320327777 @default.
• W3201301400 hasFunder F4320335787 @default.
• W3201301400 hasIssue "1" @default.
• W3201301400 hasLocation W32013014001 @default.
• W3201301400 hasLocation W32013014002 @default.
• W3201301400 hasOpenAccess W3201301400 @default.
• W3201301400 hasPrimaryLocation W32013014001 @default.
• W3201301400 hasRelatedWork W2000549087 @default.
• W3201301400 hasRelatedWork W2067191681 @default.
• W3201301400 hasRelatedWork W2069797378 @default.
• W3201301400 hasRelatedWork W2075752336 @default.

• next