Lista de obras - Maria Clara Bonaglia - Dominio Público Uruguay

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

artículo científico publicado en 2002

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

artículo científico publicado en 2013

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2006

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.

artículo científico publicado en 1997

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

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2007

DNA methylation regulates tissue-specific expression of Shank3.

artículo científico publicado en 2007

De novo unbalanced translocations have a complex history/aetiology

artículo científico publicado en 2018

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2000

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

artículo científico publicado en 2017

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

artículo científico publicado en 2001

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

artículo científico publicado en 2008

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

artículo científico

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

artículo científico publicado en 2024

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

artículo científico publicado en 1998

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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.

artículo científico publicado en 2015

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

artículo científico publicado en 2005

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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 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).

artículo científico publicado en 2008

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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.

artículo científico publicado en 2016

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

artículo científico publicado en 2011

Reciprocal translocations: a trap for cytogenetists?

artículo científico publicado en 2005

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

artículo científico publicado en 2017

Ring chromosome 9: An atypical case

artículo científico publicado en 1996

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

artículo científico

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.

artículo científico publicado en 2004

Subtelomeric trisomy 21q: A new benign chromosomal variant

artículo científico publicado en 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

artículo científico publicado en 2020

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

artículo científico publicado en 2014

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

artículo científico publicado en 2022

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

artículo científico publicado en 2006

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

artículo científico publicado en 2007

Two dystrophin proteins and transcripts in a mild dystrophinopathic patient.

artículo científico publicado en 2003

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

artículo científico publicado en 2003

Lista de obras de 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.