Chong Ae Kim

Chong Ae Kim

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Chong Ae Kim

Publications by authors named "Chong Ae Kim"

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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.

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http://dx.doi.org/10.1007/s00256-019-3159-xDOI Listing
August 2019

Characteristics of auditory evaluation in Williams syndrome: a systematic review.

Codas 2018 Sep 17;30(5):e20170267. Epub 2018 Sep 17.

Departamento de Fisioterapia, Fonoaudiologia e Terapia Ocupacional, Faculdade de Medicina, Universidade de São Paulo - USP - São Paulo (SP), Brasil.

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S
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http://dx.doi.org/10.1590/2317-1782/20182017267DOI Listing
September 2018

Diagnosis and management of systemic hypertension due to renovascular and aortic stenosis in patients with Williams-Beuren syndrome.

Rev Assoc Med Bras (1992) 2018 Aug;64(8):723-728

. Pediatric Nephrology Unit, Institute of Children, Hospital das Clínicas, Faculty of Medicine, University of São Paulo, São Paulo, Brasil.

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http://dx.doi.org/10.1590/1806-9282.64.08.723DOI Listing
August 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.

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

Cognitive and behavioral profile of Williams Syndrome toddlers.

Codas 2018 Jul 19;30(4):e20170188. Epub 2018 Jul 19.

Programa de Pós-graduação em Distúrbios do Desenvolvimento, Universidade Presbiteriana Mackenzie - São Paulo (SP), Brasil.

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http://dx.doi.org/10.1590/2317-1782/20182017188DOI Listing
July 2018

Multimodal image analysis of the retina in Hunter syndrome (mucopolysaccharidosis type II): Case report.

Ophthalmic Genet 2018 Jan-Feb;39(1):103-107. Epub 2017 Aug 18.

a Faculdade de Medicina Hospital das Clinicas, Ophthalmology , Universidade de São Paulo , São Paulo , Brazil.

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http://dx.doi.org/10.1080/13816810.2017.1354383DOI Listing
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.

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http://dx.doi.org/10.1186/s13039-018-0363-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800070PMC
February 2018

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.

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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.

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

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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.

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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.

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http://www.hindawi.com/journals/bmri/2015/903175/
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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.

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

CD4+CD25 high Foxp3+ Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritis.

Hum Immunol 2016 Feb 7;77(2):196-200. Epub 2015 Dec 7.

Translational Research Laboratory Prof. C. A. Hart, Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil. Electronic address:

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http://dx.doi.org/10.1016/j.humimm.2015.11.018DOI Listing
February 2016

Rare genomic rearrangement in a boy with Williams-Beuren syndrome associated to XYY syndrome and intriguing behavior.

Am J Med Genet A 2015 Dec 30;167A(12):3197-203. Epub 2015 Sep 30.

Department of Pathology, Cytogenomics Lab - LIM03, Faculdade de Medicina da Universidade de São Paulo (USP), São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.37360DOI Listing
December 2015

Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome.

Mol Syndromol 2015 Jul 27;6(2):87-90. Epub 2015 May 27.

Departamento de Genética, Instituto da Criança, São Paulo, Brazil ; Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.

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https://www.karger.com/Article/FullText/407418
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http://dx.doi.org/10.1159/000407418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4521069PMC
July 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.

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

Mowat-Wilson syndrome: neurological and molecular study in seven patients.

Arq Neuropsiquiatr 2015 Jan 1;73(1):12-7. Epub 2015 Jan 1.

Departamento de Neurologia, Faculdade de Medicina, Universidade de São Paulo, Sao Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/0004-282X20140182DOI Listing
January 2015

Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome.

Mol Genet Genomics 2014 Dec 2;289(6):1037-43. Epub 2014 Jul 2.

Department of Pathology, Laboratório de Citogenômica, LIM 03, Universidade de São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 155, 2° floor, block 12, Cerqueira César, São Paulo, SP, CEP: 05403-000, Brazil,

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http://dx.doi.org/10.1007/s00438-014-0876-7DOI Listing
December 2014

NK and B cell deficiency in a MPS type II family with novel mutation in the IDS gene.

Clin Immunol 2014 Oct 16;154(2):100-4. Epub 2014 Jul 16.

Medical Genetics Unit, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo (USP), São Paulo, Brazil.

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http://dx.doi.org/10.1016/j.clim.2014.07.001DOI Listing
October 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.

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

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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.

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http://dx.doi.org/10.1002/ajmg.a.36424DOI Listing
May 2014

Remote spinal cord injury in mucopolysaccharidosis type IVA after cervical decompression.

Neurology 2014 Apr;82(15):1382-3

From the Instituto da Criança (F.B., C.A.K.), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC FMUSP) (F.B., C.A.K., P.R.A., A.C.C.C.), Brazil.

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http://dx.doi.org/10.1212/WNL.0000000000000341DOI Listing
April 2014

Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports.

J Med Case Rep 2013 Dec 30;7:284. Epub 2013 Dec 30.

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

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http://dx.doi.org/10.1186/1752-1947-7-284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897898PMC
December 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.

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http://dx.doi.org/10.1002/ajmg.a.35761DOI Listing
March 2013

Ring chromosome 10: report on two patients and review of the literature.

J Appl Genet 2013 Feb 18;54(1):35-41. Epub 2012 Dec 18.

Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, Rua Botucatu 740, CEP 04023-900, São Paulo, Brazil.

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http://link.springer.com/10.1007/s13353-012-0128-7
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http://dx.doi.org/10.1007/s13353-012-0128-7DOI Listing
February 2013

The first cardiac transplant experience in a patient with mucopolysaccharidosis.

Cardiovasc Pathol 2012 Jul-Aug;21(4):358-60. Epub 2011 Dec 6.

Instituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo-SP, Brazil.

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http://linkinghub.elsevier.com/retrieve/pii/S105488071100132
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http://dx.doi.org/10.1016/j.carpath.2011.10.004DOI Listing
November 2012

Behavioral and cognitive phenotype of children and adolescents with Williams-Beuren Syndrome.

Pro Fono 2010 Jul-Sep;22(3):215-20

Centro de Ciências da Saúde, Universidade Federal de Santa Catarina, Brazil.

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August 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.

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

DiGeorge Syndrome: a not so rare disease.

Clinics (Sao Paulo) 2010 ;65(9):865-9

Instituto da Criança, Hospital das Clinicas, Universidade de São Paulo, SP, Brazil.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2954737PMC
http://dx.doi.org/10.1590/s1807-59322010000900009DOI Listing
April 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.

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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.

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

Dental evaluation of Kabuki syndrome patients.

Cleft Palate Craniofac J 2009 Nov 17;46(6):668-73. Epub 2009 May 17.

Genetics Unit, Instituto da Criança, University of São Paulo, 05403-900 São Paulo-SP, Brazil.

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http://dx.doi.org/10.1597/08-077.1DOI Listing
November 2009

Nephrogenic diabetes insipidus (NDI): clinical, laboratory and genetic characterization of five Brazilian patients.

Clinics (Sao Paulo) 2009 May;64(5):409-14

Unidade de Nefrologia Pediátrica, Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694244PMC
http://dx.doi.org/10.1590/s1807-59322009000500007DOI Listing
May 2009

A duplex allele-specific amplification PCR to detect SMN1 deletion.

Genet Test Mol Biomarkers 2009 Apr;13(2):205-8

Laboratório de Pediatria Clínica-Lim 36, Instituto da Criança-HCFMUSP, Rua Dr. Eneas de Carvalho Aguiar, São Paulo 05403-900, Brazil.

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http://dx.doi.org/10.1089/gtmb.2008.0066DOI Listing
April 2009

Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.

J Hum Genet 2007 28;52(6):521-6. Epub 2007 Apr 28.

Department of Pediatrics, Instituto da Criança, HC, University of São Paulo, Av. Dr. Enéas Carvalho de Aguiar, 647, Cerqueira César, 05403-900, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1007/s10038-007-0146-1DOI Listing
July 2007

Williams Syndrome: development of a new scoring system for clinical diagnosis.

Clinics (Sao Paulo) 2007 Apr;62(2):159-66

Child's Institute, Medical School, São Paulo University, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1590/s1807-59322007000200011DOI Listing
April 2007

Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.

Am J Med Genet A 2007 Feb;143(4):320-5

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

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http://dx.doi.org/10.1002/ajmg.a.31592DOI Listing
February 2007

Exuberant juvenile hyaline fibromatosis in two patients.

Pediatr Dermatol 2006 Sep-Oct;23(5):458-64

Department of Dermatology, Hospital das Clínicas, University of São Paulo School of Medicine, São Paulo, Brazil.

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http://doi.wiley.com/10.1111/j.1525-1470.2006.00283.x
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http://dx.doi.org/10.1111/j.1525-1470.2006.00283.xDOI Listing
January 2007

Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation.

AJNR Am J Neuroradiol 2004 Nov-Dec;25(10):1836-9

Pediatric Neuroradiology Division, University of São Paulo School of Medicine, São Paulo, Brazil.

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February 2005

Renal and urinary findings in 20 patients with Williams-Beuren syndrome diagnosed by fluorescence in situ hybridization (FISH).

Rev Hosp Clin Fac Med Sao Paulo 2004 Oct 29;59(5):266-72. Epub 2004 Oct 29.

Genetics Clinic Unit, Department of Pediatrics, Hospital das Clínicas, Faculty of Medicine, University of São Paulo - São Paulo/SP, Brazil.

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http://dx.doi.org//S0041-87812004000500008DOI Listing
October 2004

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.

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April 2004

Williams-Beuren syndrome: cardiovascular abnormalities in 20 patients diagnosed with fluorescence in situ hybridization.

Arq Bras Cardiol 2003 Nov 1;81(5):462-73. Epub 2003 Dec 1.

Instituto da Criança do Hospital das Clínicas - FMUSP, Instituto do Coração do Hospital das Clínicas - FMUSP e Laboratório Fleury - São Paulo, SP - Brazil.

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http://dx.doi.org/10.1590/s0066-782x2003001300003DOI Listing
November 2003

A study of EEG and epilepsy profile in Wolf-Hirschhorn syndrome and considerations regarding its correlation with other chromosomal disorders.

Brain Dev 2003 Jun;25(4):283-7

Laboratory of Clinical Neurophysiology, Institute and Department of Psychiatry, University of São Paulo Medical School, São Paulo, Brazil.

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http://dx.doi.org/10.1016/s0387-7604(02)00223-1DOI Listing
June 2003