FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2023478229> ?p ?o ?g. }

• W2023478229 endingPage "93" @default.
• W2023478229 startingPage "83" @default.
• W2023478229 abstract "High resolution chromosome analysis, molecular cytogenetics, and study of the association between specific chromosome rearrangements and single gene disorders have provided a chromosomal basis to a number of mendelian diseases. Deletions and duplications of small regions, usually less than 3 Mb in size, result in an alteration of normal gene dosage of a number of unrelated genes physically close to each other and are responsible for contiguous gene syndromes. For example, haploinsufficiency is implicated for del 8q24.1 in Langer-Giedion syndrome, del 17p13.3 in Miller-Dieker syndrome, and del 22q11.2 in DiGeorge and Velo-cardiofacial syndromes. Another chromosomal mechanism causing mendelian phenotypes is translocation, which may eventually interrupt a disease gene. It is assumed that translocation breakpoints are running through a relevant gene, hindering the production of the gene product. An example is breakage 16p13.3 associated with Rubinstein-Taybi syndrome. Females with X/autosome translocations have an almost exclusive inactivation of the normal X. Interruption of a disease gene in the translocated X causes the expression of a mendelian phenotype in the presence of an allelic recessive mutation onto the nonrearranged X. Finally, if a human gene shows exclusive expression from a single parental homologue, ie, it is imprinted, deletion of the chromosomal segment containing the active allele results in structural monosomy and functional nullisomy. This situation is illustrated by Prader-Willi and Angelman syndromes. Over seventy human genes have been precisely assigned to chromosomal regions using a cytogenetic approach. Chromosome techniques combined with molecular methods have proved to have powerful and sensitive diagnostic capabilities." @default.
• W2023478229 created "2016-06-24" @default.
• W2023478229 creator A5004697419 @default.
• W2023478229 creator A5012180571 @default.
• W2023478229 creator A5086375346 @default.
• W2023478229 date "1995-01-01" @default.
• W2023478229 modified "2023-10-03" @default.
• W2023478229 title "The link between cytogenetics and mendelism" @default.
• W2023478229 cites W1965032430 @default.
• W2023478229 cites W1965420751 @default.
• W2023478229 cites W1969315247 @default.
• W2023478229 cites W1972622242 @default.
• W2023478229 cites W1973439201 @default.
• W2023478229 cites W1974268067 @default.
• W2023478229 cites W1974883337 @default.
• W2023478229 cites W1976419023 @default.
• W2023478229 cites W1976859904 @default.
• W2023478229 cites W1978876953 @default.
• W2023478229 cites W1984846891 @default.
• W2023478229 cites W1992218856 @default.
• W2023478229 cites W1992502425 @default.
• W2023478229 cites W1994366070 @default.
• W2023478229 cites W1995698221 @default.
• W2023478229 cites W1999638259 @default.
• W2023478229 cites W2000532324 @default.
• W2023478229 cites W2002991365 @default.
• W2023478229 cites W2008201582 @default.
• W2023478229 cites W2008583823 @default.
• W2023478229 cites W2028243933 @default.
• W2023478229 cites W2029860411 @default.
• W2023478229 cites W2039892043 @default.
• W2023478229 cites W2039934377 @default.
• W2023478229 cites W2042813335 @default.
• W2023478229 cites W2047212283 @default.
• W2023478229 cites W2049775774 @default.
• W2023478229 cites W2056694320 @default.
• W2023478229 cites W2070476783 @default.
• W2023478229 cites W2073302508 @default.
• W2023478229 cites W2076522099 @default.
• W2023478229 cites W2081022695 @default.
• W2023478229 cites W2082864351 @default.
• W2023478229 cites W2082909360 @default.
• W2023478229 cites W2085903691 @default.
• W2023478229 cites W2091871904 @default.
• W2023478229 cites W2092920672 @default.
• W2023478229 cites W2105492954 @default.
• W2023478229 cites W2106344130 @default.
• W2023478229 cites W2106593900 @default.
• W2023478229 cites W2108707281 @default.
• W2023478229 cites W2113728534 @default.
• W2023478229 cites W2114381641 @default.
• W2023478229 cites W2116723833 @default.
• W2023478229 cites W2123152110 @default.
• W2023478229 cites W2141934953 @default.
• W2023478229 cites W2159708017 @default.
• W2023478229 cites W2415110637 @default.
• W2023478229 cites W2620627618 @default.
• W2023478229 cites W4249642628 @default.
• W2023478229 doi "https://doi.org/10.1016/0753-3322(96)82592-3" @default.
• W2023478229 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7605907" @default.
• W2023478229 hasPublicationYear "1995" @default.
• W2023478229 type Work @default.
• W2023478229 sameAs 2023478229 @default.
• W2023478229 citedByCount "12" @default.
• W2023478229 countsByYear W20234782292012 @default.
• W2023478229 countsByYear W20234782292016 @default.
• W2023478229 crossrefType "journal-article" @default.
• W2023478229 hasAuthorship W2023478229A5004697419 @default.
• W2023478229 hasAuthorship W2023478229A5012180571 @default.
• W2023478229 hasAuthorship W2023478229A5086375346 @default.
• W2023478229 hasConcept C104317684 @default.
• W2023478229 hasConcept C127716648 @default.
• W2023478229 hasConcept C134925867 @default.
• W2023478229 hasConcept C138626823 @default.
• W2023478229 hasConcept C167752854 @default.
• W2023478229 hasConcept C174475383 @default.
• W2023478229 hasConcept C180754005 @default.
• W2023478229 hasConcept C2909874657 @default.
• W2023478229 hasConcept C2910535243 @default.
• W2023478229 hasConcept C30481170 @default.
• W2023478229 hasConcept C46321384 @default.
• W2023478229 hasConcept C53226629 @default.
• W2023478229 hasConcept C54355233 @default.
• W2023478229 hasConcept C68838962 @default.
• W2023478229 hasConcept C7602840 @default.
• W2023478229 hasConcept C86546924 @default.
• W2023478229 hasConcept C86803240 @default.
• W2023478229 hasConceptScore W2023478229C104317684 @default.
• W2023478229 hasConceptScore W2023478229C127716648 @default.
• W2023478229 hasConceptScore W2023478229C134925867 @default.
• W2023478229 hasConceptScore W2023478229C138626823 @default.
• W2023478229 hasConceptScore W2023478229C167752854 @default.
• W2023478229 hasConceptScore W2023478229C174475383 @default.
• W2023478229 hasConceptScore W2023478229C180754005 @default.
• W2023478229 hasConceptScore W2023478229C2909874657 @default.
• W2023478229 hasConceptScore W2023478229C2910535243 @default.
• W2023478229 hasConceptScore W2023478229C30481170 @default.
• W2023478229 hasConceptScore W2023478229C46321384 @default.

• next