Maria Clara Bonaglia

Summary

Affiliation: Bosisio Parini
Country: Italy

Publications

  1. ncbi request reprint 20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: narrowing of the 9p duplication critical region to 6 Mb
    Maria Clara Bonaglia
    IRCCS Eugenio Medea, Bosisio Parini Lecco, Italy
    Am J Med Genet 112:154-9. 2002
  2. pmc Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
    M C Bonaglia
    IRCCS E Medea, 23842 Bosisio Parini, Lecco, Italy
    Am J Hum Genet 69:261-8. 2001
  3. ncbi request reprint A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype
    Maria Clara Bonaglia
    IRCCS Eugenio Medea, Bosisio Parini, Italy
    Eur J Hum Genet 13:586-91. 2005
  4. doi request reprint Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype
    Maria Clara Bonaglia
    Scientific Institute E Medea, Bosisio Parini, Lecco, Italy
    Eur J Hum Genet 16:1443-9. 2008
  5. pmc A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications
    Maria Clara Bonaglia
    Scientific Institute Eugenio Medea, Bosisio Parini, Lecco, Italy
    Eur J Hum Genet 17:179-86. 2009
  6. pmc Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome
    Maria Clara Bonaglia
    Cytogenetics Laboratory, Scientific Institute E Medea, Bosisio Parini, Italy
    PLoS Genet 7:e1002173. 2011
  7. doi request reprint Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant
    Maria Clara Bonaglia
    IRCCS Eugenio Medea, Via Don Luigi Monza 20, 23842 Bosisio Parini, Lecco, Italy
    Eur J Med Genet 51:148-55. 2008
  8. ncbi request reprint Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2
    Roberto Giorda
    E Medea Scientific Institute, Bosisio Parini, Lecco, Italy
    Hum Mutat 28:459-68. 2007
  9. ncbi request reprint Subtelomeric trisomy 21q: a new benign chromosomal variant
    Maria Clara Bonaglia
    IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy
    Eur J Med Genet 50:54-9. 2007
  10. pmc Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements
    Silvana Beri
    Molecular Biology Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy
    Eur J Hum Genet 21:757-61. 2013

Detail Information

Publications15

  1. ncbi request reprint 20-Mb duplication of chromosome 9p in a girl with minimal physical findings and normal IQ: narrowing of the 9p duplication critical region to 6 Mb
    Maria Clara Bonaglia
    IRCCS Eugenio Medea, Bosisio Parini Lecco, Italy
    Am J Med Genet 112:154-9. 2002
    ..The breakpoint's location in this patient and previously reported cases suggest that the critical region for the 9p duplication syndrome lies within a 6-Mb portion of chromosome 9p22 between markers D9S267 and D9S1213...
  2. pmc Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome
    M C Bonaglia
    IRCCS E Medea, 23842 Bosisio Parini, Lecco, Italy
    Am J Hum Genet 69:261-8. 2001
    ..ProSAP2 is a good candidate for this syndrome, because it is preferentially expressed in the cerebral cortex and the cerebellum and encodes a scaffold protein involved in the postsynaptic density of excitatory synapses...
  3. ncbi request reprint A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype
    Maria Clara Bonaglia
    IRCCS Eugenio Medea, Bosisio Parini, Italy
    Eur J Hum Genet 13:586-91. 2005
    ..This paper confirms that small subtelomeric de novo duplications may be responsible for mental retardation, facial dysmorphisms and/or congenital malformations, although their presence may be overlooked by FISH analysis...
  4. doi request reprint Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype
    Maria Clara Bonaglia
    Scientific Institute E Medea, Bosisio Parini, Lecco, Italy
    Eur J Hum Genet 16:1443-9. 2008
    ..A possible involvement of the GRIK2 gene in autistic-like behaviour, of POPDC3 in heart development, and of MCHR2 in the control of feeding behaviour and energy metabolism is also hypothesized...
  5. pmc A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications
    Maria Clara Bonaglia
    Scientific Institute Eugenio Medea, Bosisio Parini, Lecco, Italy
    Eur J Hum Genet 17:179-86. 2009
    ..The phenotypic effects of the trisomy and of the terminal 2p deletion are discussed...
  6. pmc Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome
    Maria Clara Bonaglia
    Cytogenetics Laboratory, Scientific Institute E Medea, Bosisio Parini, Italy
    PLoS Genet 7:e1002173. 2011
    ....
  7. doi request reprint Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant
    Maria Clara Bonaglia
    IRCCS Eugenio Medea, Via Don Luigi Monza 20, 23842 Bosisio Parini, Lecco, Italy
    Eur J Med Genet 51:148-55. 2008
    ..This is not suggestive of a trisomy but rather of CNV regions. This type of rearrangement could define a new class of polymorphic variants, i.e. positional variants, as observed for pericentromeric heterochromatin...
  8. ncbi request reprint Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2
    Roberto Giorda
    E Medea Scientific Institute, Bosisio Parini, Lecco, Italy
    Hum Mutat 28:459-68. 2007
    ..Our study demonstrates that nonallelic homologous recombination involving multiple LCRs can generate more complex rearrangements and cause a greater variety of genomic diseases...
  9. ncbi request reprint Subtelomeric trisomy 21q: a new benign chromosomal variant
    Maria Clara Bonaglia
    IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy
    Eur J Med Genet 50:54-9. 2007
    ..This report shows that new, previously unknown, benign subtelomeric variants may complicate the correct clinical diagnosis...
  10. pmc Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements
    Silvana Beri
    Molecular Biology Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Italy
    Eur J Hum Genet 21:757-61. 2013
    ..Genetic testing for VIPR2-LCR-associated inversions should be performed on available cohorts of psychiatric patients to evaluate their potential pathogenic role...
  11. ncbi request reprint DNA methylation regulates tissue-specific expression of Shank3
    Silvana Beri
    E Medea Scientific Institute, Bosisio Parini, LC, Italy
    J Neurochem 101:1380-91. 2007
    ..Altogether, these data suggest the existence of a specific epigenetic control mechanism regulating SHANK3, but not SHANK1 and SHANK2, expression...
  12. pmc Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion
    Maria Clara Bonaglia
    Eugenio Medea Scientific Institute, Bosisio Parini, Lecco, Italy
    Eur J Hum Genet 17:426-33. 2009
    ..As maternal UPD 22 has not been generally associated with any defects and as the size of the deletion is very similar in the two cases, phenotype severity is likely to depend entirely on the degree of mosaicism in each individual...
  13. ncbi request reprint Agenesis of the corpus callosum: clinical and genetic study in 63 young patients
    Maria Francesca Bedeschi
    IRCCS E Medea, Bosisio Parini Lecco, Italy
    Pediatr Neurol 34:186-93. 2006
    ....
  14. ncbi request reprint Reciprocal translocations: a trap for cytogenetists?
    Roberto Ciccone
    Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
    Hum Genet 117:571-82. 2005
    ..This study, while confirming previous data showing unexpected complexity in translocations, further underscores the need for molecular investigations before taking for granted an apparently simple cytogenetic interpretation...
  15. ncbi request reprint Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy
    Tiziano Pramparo
    Biologia Generale e Genetica Medica, University of Pavia, Pavia, Italy
    Hum Genet 118:76-81. 2005
    ..We hypothesize a loss-of-function mutation of the AF9/MLLT3 gene, and a possible role for the FAT gene on chromosome 4, in the genesis of the proband's severe neurological phenotype...