Deletion of 15q11.2-15q13.1 in isolated human hemimegalencephaly

Acta Neuropathologica

Volumn 118, Issue 6, 2009, Pages 821-823

  Baybis, Marianna ^a   Aronica, Eleonora ^b,c   Nathanson, Katherine L ^a   Crino, Peter B ^a  

^a HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c STICHTING EPILEPSIE INSTELLINGEN NEDERLAND SEIN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MAMMALIAN TARGET OF RAPAMYCIN; PROTEIN S6;

BRAIN DISEASE; CHILD; CHROMOSOME 15Q; CHROMOSOME DELETION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HEMIGALENCEPHALY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOREACTIVITY; LETTER; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 15; HUMANS; MALE; MALFORMATIONS OF CORTICAL DEVELOPMENT;

EID: 71449113429     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-009-0603-3     Document Type: Letter

References (8)

1. E Aronica K Boer M Baybis J Yu P Crino 2007 Co-expression of cyclin D1 and phosphorylated ribosomal S6 proteins in hemimegalencephaly Acta Neuropathol (Berl) 114 3 287 293 10.1007/s00401-007-0225-6 1:CAS:528:DC%2BD2sXosFKrsLg%3D (Pubitemid 47226155)
2. K Boer D Troost WG Spliet S Redeker PB Crino E Aronica 2007 A neuropathological study of two autopsy cases of syndromic hemimegalencephaly Neuropathol Appl Neurobiol 33 455 470 10.1111/j.1365-2990.2006.00818.x 1:STN:280:DC%2BD2svgtVCjtg%3D%3D 17617874 (Pubitemid 47037888)
3. L Flores-Sarnat 2002 Hemimegalencephaly. Part 1. Genetic, clinical, and imaging aspects J Child Neurol 17 373 384 10.1177/088307380201700512 12150586
4. WJ Kent CW Sugnet TS Furey KM Roskin TH Pringle AM Zahler, et al. 2002 The human genome browser at UCSC Genome Res 12 996 1006 1:CAS:528: DC%2BD38Xks12hs7s%3D 12045153
5. JH Merks LS de Vries XP Zhou P Nikkels PG Barth C Eng, et al. 2003 PTEN hamartoma tumour syndrome: variability of an entity J Med Genet 40 e111 10.1136/jmg.40.10.e111 1:STN:280:DC%2BD3srgsFSntw%3D%3D 14569134
6. JE Pellegrino RE Schnur R Kline EH Zackai NB Spinner 1995 Mosaic loss of 15q11q13 in a patient with hypomelanosis of Ito: is there a role for the P gene? Hum Genet 96 485 489 10.1007/BF00191813 1:STN:280:DyaK28%2Fhtl2itw%3D%3D 7557977
7. BT Tinkle EK Schorry DN Franz KR Crone HM Saal 2005 Epidemiology of hemimegalencephaly: a case series and review Am J Med Genet A 139 204 211 16283674
8. J Yu M Baybis A Lee G McKhann D Chugani W Kupsky, et al. 2005 Targeted gene expression analysis in hemimegalencephaly; activation of β-catenin signaling Brain Pathol 15 179 186 1:CAS:528:DC%2BD2MXhtVWqs7zI 16196383