List of works - Maria Clara Bonaglia

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

scientific article published on 01 October 2002

8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3.

scientific article

A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.

scientific article published in May 2005

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

scientific article

A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder

scientific article

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

scientific article published in July 2009

A prenatal case with multiple supernumerary markers identified as derivatives of chromosomes 13, 15, and 20: molecular cytogenetic characterization and review of the literature

scientific article published on 01 October 2019

Agenesis of the corpus callosum: clinical and genetic study in 63 young patients

scientific article

Assignment of the tenascin-R gene (Tnr) to mouse chromosome 4 band E2 by fluorescence in situ hybridization; refinement of the human TNR location to chromosome 1q24.

scientific article

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).

scientific article

Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.

scientific article published on 28 September 2016

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

scientific article published on 4 January 2008

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant

scientific article published on 08 December 2007

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

scientific article published on 31 August 2007

DNA methylation regulates tissue-specific expression of Shank3.

scientific article

De novo unbalanced translocations have a complex history/aetiology

scientific article published on 01 October 2018

De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s

scientific article (publication date: 2012)

Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23).

scientific article published in September 2011

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects

scientific article published on 01 July 2000

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.

scientific article published on 30 May 2017

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

scientific article

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

scientific article published on 12 March 2008

Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature

scientific article published on 11 May 2012

Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders

scientific article published in 2024

Genomic structure and chromosomal location of the human TGFbeta-receptor interacting protein-1 (TRIP-1) gene to 1p34.1

scientific article

Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.

scientific article published on 26 April 2014

Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.

scientific article

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q

scientific article published on 01 August 2000

Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.

scientific article

Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.

scientific article published on 28 October 2005

Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements.

scientific article published on 17 October 2012

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

scientific article

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

scientific article (publication date: December 2003)

Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1).

scientific article published on 27 February 2008

Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation

scientific article published on 15 March 2011

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

scientific article

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

scientific article published on 15 October 2008

Partial deletion of DEPDC5 in a child with focal epilepsy.

scientific article

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

scientific article

Reciprocal translocations: a trap for cytogenetists?

scientific article published on 23 July 2005

Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders

scientific article published on 20 December 2017

Ring chromosome 9: An atypical case

scientific article published on 01 May 1996

Role of mycotoxins in the pathobiology of autism: A first evidence

scientific article published on 10 August 2017

Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia.

scientific article published in June 2004

Subtelomeric trisomy 21q: A new benign chromosomal variant

scientific article published on 10 September 2006

Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome

scientific article published on 11 June 2020

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

scientific article published on 5 November 2014

The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?

scientific article published in 2022

The yield of subtelomeric FISH analysis in the evaluation of autistic spectrum disorders

scientific article published in February 2006

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

scientific article published in May 2007

Two dystrophin proteins and transcripts in a mild dystrophinopathic patient.

scientific article published in January 2003

Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion.

scientific article published in July 2003

List of works by Maria Clara Bonaglia

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

8q12 microduplication including CHD7: clinical report on a new patient with Duane retraction syndrome type 3.

A 2.3 Mb duplication of chromosome 8q24.3 associated with severe mental retardation and epilepsy detected by standard karyotype.

A familial inverted duplication/deletion of 2p25.1-25.3 provides new clues on the genesis of inverted duplications.

A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function.

A prenatal case with multiple supernumerary markers identified as derivatives of chromosomes 13, 15, and 20: molecular cytogenetic characterization and review of the literature

Agenesis of the corpus callosum: clinical and genetic study in 63 young patients

Assignment of the tenascin-R gene (Tnr) to mouse chromosome 4 band E2 by fluorescence in situ hybridization; refinement of the human TNR location to chromosome 1q24.

Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).

Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.

Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis.

Complex Segmental Duplications Mediate a Recurrent dup(X)(p11.22-p11.23) Associated with Mental Retardation, Speech Delay, and EEG Anomalies in Males and Females

Concurrent transposition of distal 6p and 20q to the 22q telomere: a recurrent benign chromosomal variant

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

DNA methylation regulates tissue-specific expression of Shank3.

De novo unbalanced translocations have a complex history/aetiology

De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s

Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23).

Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.

Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature

Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders

Genomic structure and chromosomal location of the human TGFbeta-receptor interacting protein-1 (TRIP-1) gene to 1p34.1

Genotype-phenotype relationship in a child with 2.3 Mb de novo interstitial 12p13.33-p13.32 deletion.

Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q

Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.

Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy.

Low-copy repeats at the human VIPR2 gene predispose to recurrent and nonrecurrent rearrangements.

Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes

Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population

Molecular and cytogenetic analysis of the spreading of X inactivation in a girl with microcephaly, mild dysmorphic features and t(X;5)(q22.1;q31.1).

Molecular characterization of an atypical inv dup del 8q. Proposal of a mechanism of formation

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

Mosaic 22q13 deletions: evidence for concurrent mosaic segmental isodisomy and gene conversion

Partial deletion of DEPDC5 in a child with focal epilepsy.

Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

Reciprocal translocations: a trap for cytogenetists?

Refinement of the critical 7p22.1 deletion region: Haploinsufficiency of ACTB is the cause of the 7p22.1 microdeletion-related developmental disorders

Ring chromosome 9: An atypical case

Role of mycotoxins in the pathobiology of autism: A first evidence

Selective disruption of muscle and brain-specific BPAG1 isoforms in a girl with a 6;15 translocation, cognitive and motor delay, and tracheo-oesophageal atresia.

Subtelomeric trisomy 21q: A new benign chromosomal variant

Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome

Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3.

The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?

The yield of subtelomeric FISH analysis in the evaluation of autistic spectrum disorders

Two classes of low-copy repeats comediate a new recurrent rearrangement consisting of duplication at 8p23.1 and triplication at 8p23.2.

Two dystrophin proteins and transcripts in a mild dystrophinopathic patient.

Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion.