Debora R Bertola

Debora R Bertola

UNVERIFIED PROFILE

Are you Debora R Bertola?   Register this Author

Register author
Debora R Bertola

Debora R Bertola

Publications by authors named "Debora R Bertola"

Are you Debora R Bertola?   Register this Author

50Publications

1155Reads

31Profile Views

Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome.

Horm Res Paediatr 2019 27;91(4):252-261. Epub 2019 May 27.

Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000500264DOI Listing
January 2020

Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature.

Horm Res Paediatr 2019 12;92(2):115-123. Epub 2019 Nov 12.

Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000503782DOI Listing
November 2019

Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5'UTR of .

Mol Syndromol 2019 Feb 3;10(1-2):40-47. Epub 2018 Jul 3.

Centro de Pesquisa sobre o Genoma Humano e Células-Tronco (CEGH-CEL), Curitiba, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000490635DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422142PMC
February 2019

Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause.

Horm Res Paediatr 2018 9;89(1):13-21. Epub 2017 Nov 9.

Unidade de Endocrinologia Genetica, Laboratorio de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Sao Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000481777DOI Listing
October 2018

KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability.

Hum Genome Var 2018 29;5:18010. Epub 2018 Mar 29.

Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/hgv201810
Publisher Site
http://dx.doi.org/10.1038/hgv.2018.10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694292PMC
March 2018

Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

Genet Mol Biol 2018 Jan-Mar;41(1):85-91. Epub 2018 Feb 19.

Genetics Unit, Instituto da Criança do Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

View Article

Download full-text PDF

Source
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S
Publisher Site
http://dx.doi.org/10.1590/1678-4685-GMB-2017-0172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5901507PMC
February 2018

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Am J Hum Genet 2018 01 28;102(1):69-87. Epub 2017 Dec 28.

Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.12.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777934PMC
January 2018

A new insight into CFTR allele frequency in Brazil through next generation sequencing.

Pediatr Pulmonol 2017 10 3;52(10):1300-1305. Epub 2017 Aug 3.

Hospital Israelita Albert Einstein, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.23774DOI Listing
October 2017

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

Am J Med Genet A 2017 Apr;173(4):938-945

Centro de Pesquisas Sobre o Genoma Humano e Células-Tronco, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38101DOI Listing
April 2017

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency.

Arch Endocrinol Metab 2016 Oct 10;60(5):500-504. Epub 2016 Oct 10.

Laboratório de Hormônios e Genética Molecular - LIM/42, Unidade de Adrenal, Disciplina de Endocrinologia e Metabologia, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, SP, Brasil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1590/2359-3997000000213DOI Listing
October 2016

Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up.

Am J Med Genet A 2015 Apr 3;167A(4):894-901. Epub 2015 Mar 3.

Skeletal Dysplasia Group, Department of Medical Genetic, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36954DOI Listing
April 2015

Lipoid proteinosis: rare case confirmed by ECM1 mutation detection.

Int J Pediatr Otorhinolaryngol 2014 Dec 2;78(12):2314-5. Epub 2014 Oct 2.

Genetics Unit, Child's Institute, University of São Paulo, São Paulo, Brazil. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijporl.2014.09.025DOI Listing
December 2014

Further evidence of the importance of RIT1 in Noonan syndrome.

Am J Med Genet A 2014 Nov 13;164A(11):2952-7. Epub 2014 Aug 13.

Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo/SP, Brazil; Instituto de Biociências, Universidade de São Paulo, São Paulo/SP, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36722DOI Listing
November 2014

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.

Eur J Endocrinol 2014 Aug 30;171(2):253-62. Epub 2014 May 30.

Unidade de Endocrinologia GeneticaLaboratorio de Endocrinologia Celular e Molecular LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Av. Dr. Arnaldo, 455 5° Andar Sala 5340, CEP 01246-903 Sao Paulo, BrazilDepartamento de Genetica e Biologia EvolutivaInstituto de Biociencias da Universidade de Sao Paulo, 05508-900 Sao Paulo, BrazilUnidade de GeneticaInstituto da Crianca, Faculdade de Medicina da Universidade de Sao Paulo, 05403-000 Sao Paulo, BrazilUnidade de Endocrinologia do DesenvolvimentoLaboratorio de Hormonios e Genetica Molecular LIM/42 do Hospital das Clinicas, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, 05403-900 Sao Paulo, Brazil

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EJE-14-0232DOI Listing
August 2014

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.

Am J Hum Genet 2014 Jan;94(1):113-9

Unidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo 05403-000, Brazil; Centro de Estudos do Genoma Humano, Instituto de Biociências da Universidade de São Paulo, São Paulo 05508-090, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2013.11.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3882913PMC
January 2014

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.

BMC Med Genet 2013 May 7;14:50. Epub 2013 May 7.

Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Rua do Matão 277, São Paulo 05508-090, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2350-14-50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658899PMC
May 2013

A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate.

Eur J Med Genet 2013 Apr 8;56(4):222-5. Epub 2013 Feb 8.

Department of Genetics and Evolutionary Biology, Institute of Bioscience, University of São Paulo, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2013.01.002DOI Listing
April 2013

Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation.

Am J Med Genet A 2013 Mar 7;161A(3):600-4. Epub 2013 Feb 7.

Instituto da Criança - HC/FMUSP, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35762DOI Listing
March 2013

Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.

Am J Med Genet A 2012 Nov 6;158A(11):2700-6. Epub 2012 Aug 6.

Unidade de Endocrinologia-Genetica, LIM/25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35519DOI Listing
November 2012

IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population.

Am J Med Genet A 2012 Sep 6;158A(9):2170-5. Epub 2012 Aug 6.

Human Genome Research Center, Department of Genetics, Institute de Biosciences, University of São Paulo, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35526DOI Listing
September 2012

Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies.

Am J Med Genet A 2012 May 9;158A(5):1077-82. Epub 2012 Apr 9.

Genetics Unit, Instituto da Criança - Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo - SP, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35290DOI Listing
May 2012

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.

Am J Med Genet A 2011 Oct 9;155A(10):2479-83. Epub 2011 Sep 9.

Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.34023DOI Listing
October 2011

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

Am J Med Genet A 2010 Jan;152A(1):102-10

Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.33160
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.33160DOI Listing
January 2010

An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.

Am J Med Genet A 2007 Aug;143A(16):1912-8

Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31863DOI Listing
August 2007

PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.

Genet Test 2006 ;10(3):186-91

Clinical Genetics Unit, Instituto da Criança do Hospital das Clínicas, University of São Paulo, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gte.2006.10.186DOI Listing
June 2007

Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.

Eur J Med Genet 2006 Nov-Dec;49(6):451-60. Epub 2006 Mar 10.

Human Genome Study Center, Department of Genetics and Evolutive Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S176972120600029
Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2006.02.001DOI Listing
February 2007

Cockayne syndrome type A: novel mutations in eight typical patients.

J Hum Genet 2006 25;51(8):701-5. Epub 2006 Jul 25.

Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of São Paulo, Sao Paulo, Brazil.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s10038-006-0011
Web Search
http://www.nature.com/doifinder/10.1007/s10038-006-0011-7
Publisher Site
http://dx.doi.org/10.1007/s10038-006-0011-7DOI Listing
October 2006

A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.

Eur J Med Genet 2006 Jul-Aug;49(4):298-305. Epub 2006 Jan 4.

Human Genome Study Center, Department of Genetics and Evolutive Biology, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2005.12.002DOI Listing
September 2006

Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

Am J Med Genet A 2005 Jul;136(3):242-5

Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of São Paulo, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30813DOI Listing
July 2005

Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis.

Rev Hosp Clin Fac Med Sao Paulo 2004 Apr 26;59(2):89-92. Epub 2004 Apr 26.

Clinical Genetic Unit, Children's Institute, Hospital das Clínicas, Faculty of Medicine, University of São Paulo--São Paulo/SP, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1590/s0041-87812004000200008DOI Listing
April 2004

Hematological findings in Noonan syndrome.

Rev Hosp Clin Fac Med Sao Paulo 2003 Jan-Feb;58(1):5-8. Epub 2003 Apr 30.

Genetics Clinic Unit of the Children's Institute, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1590/s0041-87812003000100002DOI Listing
July 2003