Carla S. D'angelo

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 14 publications

Genetic investigation of syndromic forms of obesity.

Genetic investigation of syndromic forms of obesity.

Journal: International journal of obesity (2005)

Published: February 18, 2022

A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review.

A novel MYT1L mutation in a boy with syndromic obesity: Case report and literature review.

Journal: Obesity research & clinical practice

Published: October 24, 2020

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.

Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity.

Journal: Molecular cytogenetics

Published: October 12, 2017

Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.

Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor.

Journal: European journal of medical genetics

Published: June 08, 2016

Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity.

Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity.

Journal: Molecular syndromology

Published: December 08, 2014

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes.

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes.

Journal: Molecular cytogenetics

Published: May 23, 2014

Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.

Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR.

Journal: Disease markers

Published: December 30, 2013

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?

Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?

Journal: European journal of human genetics : EJHG

Published: June 20, 2013

Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches.

Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches.

Journal: Journal of obesity

Published: August 30, 2012

Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants.

Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants.

Journal: American journal of medical genetics. Part A

Published: February 14, 2012

Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion.

Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion.

Journal: American journal of medical genetics. Part A

Published: November 26, 2010

Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia.

Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia.

Journal: American journal of medical genetics. Part A

Published: December 25, 2009

Showing 1-12 of 14

Last Updated: 09/26/2026