One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome
Silver-Russell syndrome (SRS) is an imprinting disorder which is characterised by severe primordial growth retardation, relative macrocephaly and a typical facial gestalt. The clinical heterogeneity of SRS is reflected by a broad spectrum of molecular changes with hypomethylation in 11p15 and matern...
Gespeichert in:
| Hauptverfasser: | , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
22 January 2021
|
| In: |
Orphanet journal of rare diseases
Year: 2021, Jahrgang: 16, Pages: 1-10 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/s13023-021-01683-x |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1186/s13023-021-01683-x
|
| Verfasserangaben: | Robert Meyer, Matthias Begemann, Christian Thomas Hübner, Daniela Dey, Alma Kuechler, Magdeldin Elgizouli, Ulrike Schara, Laima Ambrozaityte, Birute Burnyte, Carmen Schröder, Asmaa Kenawy, Peter Kroisel, Stephanie Demuth, Gyorgy Fekete, Thomas Opladen, Miriam Elbracht and Thomas Eggermann |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1750530600 | ||
| 003 | DE-627 | ||
| 005 | 20230427140045.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 210305s2021 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1186/s13023-021-01683-x |2 doi | |
| 035 | |a (DE-627)1750530600 | ||
| 035 | |a (DE-599)KXP1750530600 | ||
| 035 | |a (OCoLC)1341398093 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Meyer, Robert |e VerfasserIn |0 (DE-588)1163483060 |0 (DE-627)102782644X |0 (DE-576)508020441 |4 aut | |
| 245 | 1 | 0 | |a One test for all |b whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome |c Robert Meyer, Matthias Begemann, Christian Thomas Hübner, Daniela Dey, Alma Kuechler, Magdeldin Elgizouli, Ulrike Schara, Laima Ambrozaityte, Birute Burnyte, Carmen Schröder, Asmaa Kenawy, Peter Kroisel, Stephanie Demuth, Gyorgy Fekete, Thomas Opladen, Miriam Elbracht and Thomas Eggermann |
| 264 | 1 | |c 22 January 2021 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 05.03.2021 | ||
| 520 | |a Silver-Russell syndrome (SRS) is an imprinting disorder which is characterised by severe primordial growth retardation, relative macrocephaly and a typical facial gestalt. The clinical heterogeneity of SRS is reflected by a broad spectrum of molecular changes with hypomethylation in 11p15 and maternal uniparental disomy of chromosome 7 (upd(7)mat) as the most frequent findings. Monogenetic causes are rare, but a clinical overlap with numerous other disorders has been reported. However, a comprehensive overview on the contribution of mutations in differential diagnostic genes to phenotypes reminiscent to SRS is missing due to the lack of appropriate tests. With the implementation of next generation sequencing (NGS) tools this limitation can now be circumvented. | ||
| 650 | 4 | |a Diagnostic detection rate | |
| 650 | 4 | |a Next generation sequencing | |
| 650 | 4 | |a Silver-Russell syndrome | |
| 650 | 4 | |a Targeted multigene panel NGS | |
| 650 | 4 | |a Whole exome sequencing | |
| 700 | 1 | |a Opladen, Thomas |d 1974- |e VerfasserIn |0 (DE-588)124489656 |0 (DE-627)642820481 |0 (DE-576)335321291 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Orphanet journal of rare diseases |d London : BioMed Central, 2006 |g 16(2021), Artikel-ID 42, Seite 1-10 |h Online-Ressource |w (DE-627)50900637X |w (DE-600)2225857-7 |w (DE-576)260614424 |x 1750-1172 |7 nnas |a One test for all whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome |
| 773 | 1 | 8 | |g volume:16 |g year:2021 |g elocationid:42 |g pages:1-10 |a One test for all whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome |
| 856 | 4 | 0 | |u https://doi.org/10.1186/s13023-021-01683-x |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20210305 | ||
| 993 | |a Article | ||
| 994 | |a 2021 | ||
| 998 | |g 124489656 |a Opladen, Thomas |m 124489656:Opladen, Thomas |d 910000 |d 910500 |d 50000 |e 910000PO124489656 |e 910500PO124489656 |e 50000PO124489656 |k 0/910000/ |k 1/910000/910500/ |k 0/50000/ |p 15 | ||
| 999 | |a KXP-PPN1750530600 |e 3882193107 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"title":[{"subtitle":"whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome","title_sort":"One test for all","title":"One test for all"}],"person":[{"family":"Meyer","display":"Meyer, Robert","roleDisplay":"VerfasserIn","role":"aut","given":"Robert"},{"given":"Thomas","roleDisplay":"VerfasserIn","role":"aut","display":"Opladen, Thomas","family":"Opladen"}],"language":["eng"],"id":{"eki":["1750530600"],"doi":["10.1186/s13023-021-01683-x"]},"name":{"displayForm":["Robert Meyer, Matthias Begemann, Christian Thomas Hübner, Daniela Dey, Alma Kuechler, Magdeldin Elgizouli, Ulrike Schara, Laima Ambrozaityte, Birute Burnyte, Carmen Schröder, Asmaa Kenawy, Peter Kroisel, Stephanie Demuth, Gyorgy Fekete, Thomas Opladen, Miriam Elbracht and Thomas Eggermann"]},"origin":[{"dateIssuedDisp":"22 January 2021","dateIssuedKey":"2021"}],"relHost":[{"type":{"media":"Online-Ressource","bibl":"periodical"},"pubHistory":["1.2006 -"],"note":["Gesehen am 01.09.10"],"part":{"volume":"16","year":"2021","pages":"1-10","text":"16(2021), Artikel-ID 42, Seite 1-10"},"recId":"50900637X","id":{"issn":["1750-1172"],"eki":["50900637X"],"zdb":["2225857-7"]},"disp":"One test for all whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndromeOrphanet journal of rare diseases","language":["eng"],"origin":[{"publisherPlace":"London","dateIssuedKey":"2006","dateIssuedDisp":"2006-","publisher":"BioMed Central"}],"physDesc":[{"extent":"Online-Ressource"}],"title":[{"title":"Orphanet journal of rare diseases","title_sort":"Orphanet journal of rare diseases","subtitle":"OJRD"}]}],"note":["Gesehen am 05.03.2021"],"recId":"1750530600","type":{"media":"Online-Ressource","bibl":"article-journal"}} | ||
| SRT | |a MEYERROBERONETESTFOR2220 | ||