List of works - Decio Brunoni

Array CGH detection of a cryptic deletion in a complex chromosome rearrangement

scientific article

Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 --> pter and partial trisomy 1q41 --> qter suggests neo-telomere formation in stabilizing the deleted chromosome

scientific article published on 01 January 2006

Complex toe syndactyly with characteristic facial phenotype: a new syndrome?

scientific article published on 01 July 2008

Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14

scientific article published on 01 November 2010

Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype.

scientific article published on 20 January 2012

Deletion of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence

scientific article published in July 2006

Determining the frequency of morphological characteristics in a sample of Brazilian children

scientific article

Divorce in families of children with Down Syndrome or Rett Syndrome

scientific article published in May 2015

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

scientific article published on 26 March 2009

Evaluation of a Protocol for Postmortem Examination of Stillbirths and Neonatal Deaths with Congenital Anomalies

article

Genotype-phenotype correlation in Brazillian Rett syndrome patients.

scientific article

Identifying Autism with a Brief and Low-Cost Screening Instrument-OERA: Construct Validity, Invariance Testing, and Agreement Between Judges

scientific article

Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis

scientific article published in April 2008

Medical genetics services in the city of Sao Paulo, Brazil

scientific article published on January 2004

Methylenetetrahydrofolate reductase (MTHFR): incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in spina bifida ⬇️

scientific article published on May 15, 2003

Microcephaly and other Zika virus related events: the impact on children, families and health teams

scientific article published on October 2016

Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families

scientific article

Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome ⬇️

scientific article published on June 1, 2010

Procedures and compliance of a video modeling applied behavior analysis intervention for Brazilian parents of children with autism spectrum disorders.

scientific article published in March 2017

Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes

scientific article published on 01 October 2008

Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil

scientific article published on 01 June 2005

SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor

scientific article published on 01 August 2005

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion

scientific article published on 29 January 2014

TRANSLATION, CULTURAL ADAPTATION, AND EVIDENCE OF INSTRUMENT VALIDITY FOR A MORPHOLOGICAL EXAMINATION PERFORMED IN CHILDREN WITH AUTISM SPECTRUM DISORDER

scientific article published on 13 January 2020

Tetraploid/diploid mosaicism: case report and review of the literature.

scientific article

Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report ⬇️

scientific article published on September 7, 2012

Use of the Internet to report congenital malformations on birth certificates at four public maternity hospitals in the city of SÃ£o Paulo, Brazil

scientific article published on 01 July 2010

List of works by Decio Brunoni

Array CGH detection of a cryptic deletion in a complex chromosome rearrangement

Breakpoint mapping in a case of mosaicism with partial monosomy 9p23 --> pter and partial trisomy 1q41 --> qter suggests neo-telomere formation in stabilizing the deleted chromosome

Complex toe syndactyly with characteristic facial phenotype: a new syndrome?

Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14

Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype.

Deletion of 17p13 and LIS1 gene mutation in isolated lissencephaly sequence

Determining the frequency of morphological characteristics in a sample of Brazilian children

Divorce in families of children with Down Syndrome or Rett Syndrome

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2.

Evaluation of a Protocol for Postmortem Examination of Stillbirths and Neonatal Deaths with Congenital Anomalies

Genotype-phenotype correlation in Brazillian Rett syndrome patients.

Identifying Autism with a Brief and Low-Cost Screening Instrument-OERA: Construct Validity, Invariance Testing, and Agreement Between Judges

Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis

Medical genetics services in the city of Sao Paulo, Brazil

Methylenetetrahydrofolate reductase (MTHFR): incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in spina bifida ⬇️

Microcephaly and other Zika virus related events: the impact on children, families and health teams

Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families

Novel mutations in the TBX5 gene in patients with Holt-Oram Syndrome ⬇️

Procedures and compliance of a video modeling applied behavior analysis intervention for Brazilian parents of children with autism spectrum disorders.

Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes

Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazil

SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor

Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion

TRANSLATION, CULTURAL ADAPTATION, AND EVIDENCE OF INSTRUMENT VALIDITY FOR A MORPHOLOGICAL EXAMINATION PERFORMED IN CHILDREN WITH AUTISM SPECTRUM DISORDER

Tetraploid/diploid mosaicism: case report and review of the literature.

Twenty-year cytogenetic and molecular follow-up of a patient with ring chromosome 15: a case report ⬇️

Use of the Internet to report congenital malformations on birth certificates at four public maternity hospitals in the city of SÃ£o Paulo, Brazil