Buchumschlag

X/Y translocation in a family with Leri-Weill dyschondrosteosis

An X/Y translocation associated with Leri-Weill dyschondrosteosis (LWD) was detected in a boy and in his mother. FISH analysis with specific probes for SHOX and SRY displayed no signal on the der(X), while one signal for SHOX was detected on the normal X chromosome in the mother, and one signal each...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Calabrese, Gaetano (VerfasserIn) , Fischetto, Rita (VerfasserIn) , Stuppia, Liborio (VerfasserIn) , Capodiferro, Francesca (VerfasserIn) , Mingarelli, Rita. (VerfasserIn) , Causio, Franco (VerfasserIn) , Rocchi, Mariano (VerfasserIn) , Rappold, Gudrun (VerfasserIn) , Palka, Giandomenico (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 25 August 1999
In: Human genetics
Year: 1999, Jahrgang: 105, Heft: 4, Pages: 367-368
ISSN:1432-1203
DOI:10.1007/s004399900113
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s004399900113
Volltext
Verfasserangaben:Giuseppe Calabrese, Rita Fischetto, Liborio Stuppia, Francesca Capodiferro, Rita Mingarelli, Franco Causio, Mariano Rocchi, Gudrun A. Rappold, Giandomenico Palka

MARC

LEADER 00000caa a2200000 c 4500
001 1753222109
003 DE-627
005 20220819154724.0
007 cr uuu---uuuuu
008 210407s1999 xx |||||o 00| ||eng c
024 7 |a 10.1007/s004399900113  |2 doi 
035 |a (DE-627)1753222109 
035 |a (DE-599)KXP1753222109 
035 |a (OCoLC)1341403510 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Calabrese, Gaetano  |d 1989-  |e VerfasserIn  |0 (DE-588)1184932336  |0 (DE-627)1663811407  |4 aut 
245 1 0 |a X/Y translocation in a family with Leri-Weill dyschondrosteosis  |c Giuseppe Calabrese, Rita Fischetto, Liborio Stuppia, Francesca Capodiferro, Rita Mingarelli, Franco Causio, Mariano Rocchi, Gudrun A. Rappold, Giandomenico Palka 
264 1 |c 25 August 1999 
300 |a 2 
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 07.04.2021 
520 |a An X/Y translocation associated with Leri-Weill dyschondrosteosis (LWD) was detected in a boy and in his mother. FISH analysis with specific probes for SHOX and SRY displayed no signal on the der(X), while one signal for SHOX was detected on the normal X chromosome in the mother, and one signal each for SHOX and SRY was detected on the normal Y chromosome in the proband. 
700 1 |a Fischetto, Rita  |e VerfasserIn  |4 aut 
700 1 |a Stuppia, Liborio  |e VerfasserIn  |0 (DE-588)1230822542  |0 (DE-627)1753162424  |4 aut 
700 1 |a Capodiferro, Francesca  |e VerfasserIn  |4 aut 
700 1 |a Mingarelli, Rita.  |e VerfasserIn  |4 aut 
700 1 |a Causio, Franco  |e VerfasserIn  |4 aut 
700 1 |a Rocchi, Mariano  |e VerfasserIn  |4 aut 
700 1 |a Rappold, Gudrun  |d 1954-  |e VerfasserIn  |0 (DE-588)102028319X  |0 (DE-627)691169594  |0 (DE-576)359985947  |4 aut 
700 1 |a Palka, Giandomenico  |e VerfasserIn  |0 (DE-588)1230084894  |0 (DE-627)1752431154  |4 aut 
773 0 8 |i Enthalten in  |t Human genetics  |d Berlin : Springer, 1976  |g 105(1999), 4, Seite 367-368  |h Online-Ressource  |w (DE-627)253723973  |w (DE-600)1459188-1  |w (DE-576)072373008  |x 1432-1203  |7 nnas  |a X/Y translocation in a family with Leri-Weill dyschondrosteosis 
773 1 8 |g volume:105  |g year:1999  |g number:4  |g pages:367-368  |g extent:2  |a X/Y translocation in a family with Leri-Weill dyschondrosteosis 
856 4 0 |u https://doi.org/10.1007/s004399900113  |x Verlag  |x Resolving-System  |z lizenzpflichtig  |3 Volltext 
951 |a AR 
992 |a 20210407 
993 |a Article 
994 |a 1999 
998 |g 102028319X  |a Rappold, Gudrun  |m 102028319X:Rappold, Gudrun  |d 910000  |d 911500  |e 910000PR102028319X  |e 911500PR102028319X  |k 0/910000/  |k 1/910000/911500/  |p 8 
999 |a KXP-PPN1753222109  |e 3902898984 
BIB |a Y 
SER |a journal 
JSO |a {"relHost":[{"titleAlt":[{"title":"Human genetics <Berlin>"}],"type":{"bibl":"periodical","media":"Online-Ressource"},"recId":"253723973","disp":"X/Y translocation in a family with Leri-Weill dyschondrosteosisHuman genetics","part":{"volume":"105","pages":"367-368","year":"1999","extent":"2","issue":"4","text":"105(1999), 4, Seite 367-368"},"pubHistory":["Volume 31, issue 1 (January 1976)-"],"origin":[{"publisherPlace":"Berlin ; Heidelberg ; Berlin ; Heidelberg ; New York, NY","dateIssuedKey":"1976","dateIssuedDisp":"1976-","publisher":"Springer ; Springer"}],"id":{"issn":["1432-1203"],"eki":["253723973"],"zdb":["1459188-1"]},"note":["Gesehen am 27.01.25","Ungezählte Beil.: Supplement"],"physDesc":[{"extent":"Online-Ressource"}],"language":["eng"],"title":[{"title":"Human genetics","title_sort":"Human genetics"}]}],"person":[{"display":"Calabrese, Gaetano","family":"Calabrese","role":"aut","given":"Gaetano"},{"given":"Rita","role":"aut","family":"Fischetto","display":"Fischetto, Rita"},{"role":"aut","display":"Stuppia, Liborio","family":"Stuppia","given":"Liborio"},{"family":"Capodiferro","display":"Capodiferro, Francesca","role":"aut","given":"Francesca"},{"family":"Mingarelli","display":"Mingarelli, Rita.","role":"aut","given":"Rita."},{"display":"Causio, Franco","family":"Causio","role":"aut","given":"Franco"},{"display":"Rocchi, Mariano","family":"Rocchi","role":"aut","given":"Mariano"},{"display":"Rappold, Gudrun","family":"Rappold","role":"aut","given":"Gudrun"},{"given":"Giandomenico","display":"Palka, Giandomenico","family":"Palka","role":"aut"}],"type":{"media":"Online-Ressource","bibl":"article-journal"},"origin":[{"dateIssuedKey":"1999","dateIssuedDisp":"25 August 1999"}],"id":{"eki":["1753222109"],"doi":["10.1007/s004399900113"]},"recId":"1753222109","note":["Gesehen am 07.04.2021"],"name":{"displayForm":["Giuseppe Calabrese, Rita Fischetto, Liborio Stuppia, Francesca Capodiferro, Rita Mingarelli, Franco Causio, Mariano Rocchi, Gudrun A. Rappold, Giandomenico Palka"]},"physDesc":[{"extent":"2 S."}],"language":["eng"],"title":[{"title_sort":"X/Y translocation in a family with Leri-Weill dyschondrosteosis","title":"X/Y translocation in a family with Leri-Weill dyschondrosteosis"}]} 
SRT |a CALABRESEGXYTRANSLOC2519 

Ähnliche Einträge