Chong A Kim

Chong A Kim

UNVERIFIED PROFILE

Are you Chong A Kim?   Register this Author

Register author
Chong A Kim

Chong A Kim

Publications by authors named "Chong A Kim"

Are you Chong A Kim?   Register this Author

61Publications

1707Reads

34Profile 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

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

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

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.

Int J Biochem Cell Biol 2017 11 14;92:90-94. Epub 2017 Sep 14.

BRAIN Laboratory, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil; Post Graduate Program in Genetics and Molecular Biology of Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil; Medical Genetics Service of Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.biocel.2017.09.006DOI Listing
November 2017

Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome.

J Inherit Metab Dis 2017 05 10;40(3):461-462. Epub 2016 Nov 10.

Clinical Genetics Unit, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, Av. Dr. Eneas Carvalho de Aguiar, 647, São Paulo, 05403-000, SP, Brasil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-016-9996-zDOI Listing
May 2017

Subtelomeric Copy Number Variations: The Importance of 4p/4q Deletions in Patients with Congenital Anomalies and Developmental Disability.

Cytogenet Genome Res 2016 24;149(4):241-246. Epub 2016 Sep 24.

Department of Pathology, Cytogenomics Laboratory, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/448905
Publisher Site
http://dx.doi.org/10.1159/000448905DOI Listing
January 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

Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype.

Cytogenet Genome Res 2015 27;147(2-3):130-4. Epub 2016 Feb 27.

Genetics Division, Department of Morphology and Genetics, Universidade Federal de Sx00E3;o Paulo, Sx00E3;o Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000444228DOI Listing
August 2016

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

Congenital genitourinary abnormalities in children with Williams-Beuren syndrome.

J Pediatr Urol 2014 Oct 13;10(5):804-9. Epub 2014 Feb 13.

Division of Urology, University of Sao Paulo School of Medicine, Sao Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpurol.2014.01.013DOI Listing
October 2014

Advantages of early replacement therapy for mucopolysaccharidosis type VI: echocardiographic follow-up of siblings.

Cardiol Young 2014 Apr 5;24(2):229-35. Epub 2013 Mar 5.

4 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/10.1017/S1047951113000152DOI Listing
April 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

Single-nucleotide polymorphism array-based characterization of ring chromosome 18.

J Pediatr 2013 Oct 19;163(4):1174-8.e3. Epub 2013 Jul 19.

Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2013.06.005DOI Listing
October 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

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

The effects of oxybutynin on urinary symptoms in children with Williams-Beuren syndrome.

J Urol 2012 Jul 15;188(1):253-7. Epub 2012 May 15.

Division of Urology and Genetics Unit of the Children's Institute, University of São Paulo School of Medicine, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.juro.2012.03.024DOI 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

Mechanisms of ring chromosome formation, ring instability and clinical consequences.

BMC Med Genet 2011 Dec 21;12:171. Epub 2011 Dec 21.

Genetics Division, Department of Morphology and Genetics, Federal University of São Paulo, Botucatu Street 740, Zip Code 04023-900, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2
Publisher Site
http://dx.doi.org/10.1186/1471-2350-12-171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3309960PMC
December 2011

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

[Genetic and metabolic description of five patients with Berardinelli-Seip syndrome].

Arq Bras Endocrinol Metabol 2011 Feb;55(1):54-9

Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brasil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1590/s0004-27302011000100007DOI Listing
February 2011

Echocardiographic study of paediatric patients with mucopolysaccharidosis.

Cardiol Young 2010 Jun 26;20(3):254-61. Epub 2010 Apr 26.

Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, SP, Brasil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S104795110999062XDOI Listing
June 2010

Williams-Beuren syndrome: diagnosis by polymorphic markers.

Genet Test Mol Biomarkers 2010 Apr;14(2):209-14

Instituto da Criança, FMUSP, Unidade de Genética Clínica, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/gtmb.2009.0120DOI Listing
April 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

Infantile autism and 47,XYY karyotype.

Arq Neuropsiquiatr 2009 Sep;67(3A):717-8

Instituto de Psiquiatria do Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1590/s0004-282x2009000400032DOI Listing
September 2009

Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements.

Hum Genet 2009 Jun 7;125(5-6):551-63. Epub 2009 Mar 7.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-009-0650-9DOI Listing
June 2009

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

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.

Clin Endocrinol (Oxf) 2007 Jan;66(1):130-5

Unidade de Endocrinologia do Desenvolvimento, Laboratorio de Hormonios e Genetica Molecular LIM/42, Disciplina de Endocrinologia, Hospital das Clinicas, SP, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1365-2265.2006.02698.xDOI Listing
January 2007

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

Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.

Am J Med Genet A 2004 Nov;130A(4):378-83

Genetics Clinic Unit, Instituto da Criança do Hospital das Clínicas, University of São Paulo, 05403-900 São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30270DOI Listing
November 2004

[Evaluation of factors associated with recurrent and/or severe infections in patients with Down's syndrome].

J Pediatr (Rio J) 2003 Mar-Apr;79(2):141-8

School of Medicine, Universidade de São Paulo (USP), São Paulo, SP, Brazil.

View Article

Download full-text PDF

Source
December 2003

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

Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplications.

Am J Med Genet 2002 Nov;113(2):144-50

Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.10735
Publisher Site
http://dx.doi.org/10.1002/ajmg.10735DOI Listing
November 2002

Metabolic effects of C677T and A1298C mutations at the MTHFR gene in Brazilian children with neural tube defects.

Clin Chim Acta 2002 Apr;318(1-2):139-43

Department of Clinical and Toxicological Analysis of the Faculty of Pharmaceutical Sciences, University of Sao Paulo, Ave Prof. Lineu Prestes 580, B1 17, 05508-900, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0009-8981(01)00764-1DOI Listing
April 2002