Debora Bertola

Debora Bertola

UNVERIFIED PROFILE

Are you Debora Bertola?   Register this Author

Register author
Debora Bertola

Debora Bertola

Publications by authors named "Debora Bertola"

Are you Debora Bertola?   Register this Author

100Publications

3801Reads

26Profile 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

Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.

J Pediatr 2019 Dec 17;215:192-198. Epub 2019 Oct 17.

Genetic Endocrinology Unit, Laboratory of Cellular and Molecular Endocrinology (LIM25), Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Brazil; Development Endocrinology Unit, Laboratory of Hormones and Molecular Genetics (LIM42), Hospital das Clinicas da Faculdade de Medicina da Universidade de Sao Paulo (FMUSP), Brazil. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2019.08.024DOI Listing
December 2019

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

Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III.

Skeletal Radiol 2019 Aug 2;48(8):1201-1207. Epub 2019 Feb 2.

Unidade de Genética, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP), São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00256-019-3159-xDOI Listing
August 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

Diagnosis of Atelosteogenesis Type I suggested by Fetal Ultrasonography and Atypical Paternal Phenotype with Mosaicism.

Rev Bras Ginecol Obstet 2018 Sep 19;40(9):570-576. Epub 2018 Sep 19.

Department of Medical Genetics, Hospital Universitário Professor Edgard Santos, Universidade Federal da Bahia, Salvador, BA, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0038-1670684DOI Listing
September 2018

Natural history of 39 patients with Achondroplasia.

Clinics (Sao Paulo) 2018 07 2;73:e324. Epub 2018 Jul 2.

Unidade de Genetica, Instituto da Crianca (ICR), Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, BR.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.6061/clinics/2018/e324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005962PMC
July 2018

Development of a comprehensive noninvasive prenatal test.

Genet Mol Biol 2018 Jul/Sept.;41(3):545-554. Epub 2018 Jul 16.

Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, 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/10.1590/1678-4685-GMB-2017-0177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136382PMC
July 2018

Complexity of the 5' Untranslated Region of , a Critical Factor for Craniofacial and Neural Development.

Front Genet 2018 25;9:149. Epub 2018 Apr 25.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2018.00149DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5996909PMC
April 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

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

Mol Cytogenet 2018 5;11:14. Epub 2018 Feb 5.

1Human Genome and Stem Cell Research Center (HUG-CELL), Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Rua do Matao no 277, Cidade Universitaria-Butanta, Sao Paulo, SP 05508-090 Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13039-018-0363-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800070PMC
February 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

Wiedemann-Rautenstrauch syndrome: A phenotype analysis.

Am J Med Genet A 2017 Jul 26;173(7):1763-1772. Epub 2017 Apr 26.

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38246DOI Listing
July 2017

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.

Am J Med Genet A 2017 May 3;173(5):1309-1318. Epub 2017 Apr 3.

Center for Applied Clinical Genomics, A. I. duPont Hospital for Children/Nemours, Wilmington, Delaware.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5397353PMC
May 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

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

Am J Med Genet A 2017 Mar;173(3):824-828

Unidade de Genética Clínica, Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38070DOI Listing
March 2017

Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia.

Rev Assoc Med Bras (1992) 2016 May-Jun;62(3):202-6

Universidade de São Paulo, FMUSP, Department of Pediatrics, São Paulo SP , Brazil, PhD in Medicine from FMUSP. Associate Professor, Department of Pediatrics, FMUSP, São Paulo, SP, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1590/1806-9282.62.03.202DOI Listing
January 2017

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.

Genes (Basel) 2016 Nov 9;7(11). Epub 2016 Nov 9.

Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, 1120 15th Street, Augusta, GA 30912, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/genes7110096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5126782PMC
November 2016

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

Post-mortem cytogenomic investigations in patients with congenital malformations.

Exp Mol Pathol 2016 08 20;101(1):116-23. Epub 2016 Jul 20.

Department of Pathology, Cytogenomic Laboratory - LIM 03 - HC-FMUSP, Universidade de São Paulo, SP, Brazil; Human Reproduction and Genetic Center, Department of Coletive Health - Faculdade de Medicina do ABC, Santo André, SP, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.yexmp.2016.07.003DOI Listing
August 2016

Nutritional aspects of Noonan syndrome and Noonan-related disorders.

Am J Med Genet A 2016 06 1;170(6):1525-31. Epub 2016 Apr 1.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37639DOI Listing
June 2016

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.

Biomed Res Int 2015 18;2015:903175. Epub 2015 May 18.

Clinical Genetics Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, 05403-000 São Paulo, SP, Brazil.

View Article

Download full-text PDF

Source
http://www.hindawi.com/journals/bmri/2015/903175/
Publisher Site
http://dx.doi.org/10.1155/2015/903175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4450269PMC
March 2016

Corrigendum to "Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA".

Biomed Res Int 2015 8;2015:568047. Epub 2015 Oct 8.

Clinical Genetics Unit, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, 05403-000 São Paulo, SP, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2015/568047DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4618327PMC
February 2016

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Hum Mol Genet 2015 Jun 10;24(11):3038-49. Epub 2015 Feb 10.

Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France Université de Strasbourg, Laboratoire de Génétique Médicale, INSERM UMR 1112, Faculté de Médecine, FMTS, 11 rue Humann 67000 Strasbourg, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddv053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424950PMC
June 2015

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

J Med Genet 2015 Jun 20;52(6):413-21. Epub 2015 Mar 20.

Unidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, São Paulo, Brazil Centro de Pesquisa sobre o Genoma Humano e Células-Tronco, Instituto de Biociências da Universidade de São Paulo, São Paulo, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2015-103018DOI Listing
June 2015

Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.

Am J Med Genet A 2015 May 7;167A(5):1039-46. Epub 2015 Feb 7.

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

View Article

Download full-text PDF

Source
http://genoma.ib.usp.br/sites/default/files/publicacoes/carv
Web Search
http://doi.wiley.com/10.1002/ajmg.a.36789
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36789DOI Listing
May 2015

Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation.

Am J Med Genet A 2015 May 28;167A(5):1161-4. Epub 2015 Mar 28.

Faculdade de Medicina da Universidade de São Paulo, Unidade de Genética do Instituto da Criança, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36981DOI Listing
May 2015

Congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome due to a 6p deletion.

Sex Dev 2014 26;8(4):139-45. Epub 2014 Jun 26.

Disciplina de Genética, Departamento de Morfologia e Genética, Universidade Federal de São Paulo, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000363779DOI Listing
April 2015

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

New insights in mucopolysaccharidosis type VI: neurological perspective.

Brain Dev 2014 Aug 21;36(7):585-92. Epub 2013 Aug 21.

Genetics Unit, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo (USP), Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2013.07.016DOI Listing
August 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

Genetics and genomics in Brazil: a promising future.

Mol Genet Genomic Med 2014 Jul;2(4):280-91

Centro de Pesquisa sobre o Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências Universidade de São Paulo São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.95DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4113268PMC
July 2014

Tegumentary manifestations of Noonan and Noonan-related syndromes.

Clinics (Sao Paulo) 2013 ;68(8):1079-83

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.6061/clinics/2013(08)03DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3752636PMC
May 2014

Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement.

Am J Med Genet A 2014 May 29;164A(5):1162-9. Epub 2014 Jan 29.

Genetics Unit, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo (USP), Sao Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36424DOI Listing
May 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

Microdeletion 11q13.1.q13.2 in a patient presenting with developmental delay, facial dysmorphism, and esophageal atresia: possible role of the GSTP1 gene in esophagus malformation.

Birth Defects Res A Clin Mol Teratol 2013 Jul 4;97(7):463-6. Epub 2013 Jul 4.

Hospital de Clínicas, Faculdade de Medicina da Universidade de São Paulo, Instituto da Criança, Unidade de Genética, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.23115DOI Listing
July 2013

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

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

Am J Med Genet A 2013 Mar 7;161A(3):479-86. Epub 2013 Feb 7.

Human Genome and Stem Cell Center, Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35761DOI Listing
March 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

Systemic hyalinosis: new terminology, severity grading system, and surgical approach.

J Pediatr 2012 Jul 9;161(1):173; author reply 173-4. Epub 2012 May 9.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2012.03.039DOI Listing
July 2012

A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder.

Am J Med Genet B Neuropsychiatr Genet 2012 Jul 16;159B(5):529-36. Epub 2012 May 16.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.b.32059DOI Listing
July 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

Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1.

Am J Med Genet A 2011 Jun 12;155A(6):1483-6. Epub 2011 May 12.

Unidade de Genética, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33989DOI Listing
June 2011

Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.

Epilepsia 2010 Dec 30;51(12):2457-60. Epub 2010 Sep 30.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1528-1167.2010.02742.xDOI Listing
December 2010

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

Arq Bras Endocrinol Metabol 2010 Nov;54(8):717-22

Genetics Unit, Children’s Institute, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, SP, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1590/s0004-27302010000800009DOI Listing
November 2010

Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities.

Am J Med Genet A 2010 Oct;152A(10):2599-603

Unidade de Genética, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33609DOI Listing
October 2010

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