000 01323 a2200385 4500
005 20250515051309.0
264 0 _c20070319
008 200703s 0 0 eng d
022 _a0172-780X
040 _aNLM
_beng
_cNLM
100 1 _aCalounova, Gabriela
245 0 0 _aPrader-Willi syndrome due to uniparental disomy in a patient with a balanced chromosomal translocation.
_h[electronic resource]
260 _bNeuro endocrinology letters
_cOct 2006
300 _a579-85 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aChild, Preschool
650 0 4 _aChromosomes, Human, Pair 15
650 0 4 _aChromosomes, Human, Pair 8
650 0 4 _aCytogenetic Analysis
650 0 4 _aDNA Methylation
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aIn Situ Hybridization, Fluorescence
650 0 4 _aMicrosatellite Repeats
650 0 4 _aPrader-Willi Syndrome
_xgenetics
650 0 4 _aTranslocation, Genetic
650 0 4 _aUniparental Disomy
_xgenetics
700 1 _aNovotna, Drahuse
700 1 _aSimandlova, Martina
700 1 _aHavlovicova, Markéta
700 1 _aZumrová, Alena
700 1 _aKocarek, Eduard
700 1 _aSedlacek, Zdenek
773 0 _tNeuro endocrinology letters
_gvol. 27
_gno. 5
_gp. 579-85
999 _c16728637
_d16728637