Nancy Mizue Kokitsu-Nakata

Nancy Mizue Kokitsu-Nakata

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Nancy Mizue Kokitsu-Nakata

Nancy Mizue Kokitsu-Nakata

Publications by authors named "Nancy Mizue Kokitsu-Nakata"

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17Publications

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Multisystem Involvement in a Patient with a Mutation: Clinical and Imaging Findings.

J Pediatr Genet 2017 Jun 14;6(2):103-106. Epub 2016 Sep 14.

Departamento de Genética, Instituto de Ciências Biológicas, Universidade Federal de Goias, Goiania, Goiás, Brazil.

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http://dx.doi.org/10.1055/s-0036-1588028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423795PMC
June 2017

Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.

Am J Med Genet A 2014 Jul 26;164A(7):1850-3. Epub 2014 Mar 26.

INSERM U1163, Hôpital Necker-Enfants Malades and Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36505DOI Listing
July 2014

Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome.

Am J Med Genet A 2012 Aug 27;158A(8):2003-8. Epub 2012 Jun 27.

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.35454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724514PMC
August 2012

Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7.

Am J Med Genet A 2012 Jul 24;158A(7):1680-5. Epub 2012 May 24.

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.35367DOI Listing
July 2012

Auriculo-condylar syndrome. Confronting a diagnostic challenge.

Am J Med Genet A 2012 Jan 21;158A(1):59-65. Epub 2011 Nov 21.

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, SP, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.34337DOI Listing
January 2012

Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature.

Clin Dysmorphol 2009 Apr;18(2):67-77

Department of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Sao Paulo, Brazil.

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https://insights.ovid.com/crossref?an=00019605-200904000-000
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http://dx.doi.org/10.1097/MCD.0b013e328323a7ddDOI Listing
April 2009

Cerebro-oculo-nasal syndrome: report of a case with a severe phenotype.

Am J Med Genet A 2009 Mar;149A(3):519-20

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Sao Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.32588DOI Listing
March 2009

Terminal osseous dysplasia and pigmentary defects in a Brazilian girl.

Am J Med Genet A 2008 Oct;146A(20):2698-700

Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.

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http://doi.wiley.com/10.1002/ajmg.a.32353
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http://dx.doi.org/10.1002/ajmg.a.32353DOI Listing
October 2008

22q11 deletion syndrome and limb anomalies: report on two Brazilian patients.

Cleft Palate Craniofac J 2008 Sep 30;45(5):561-6. Epub 2008 Jan 30.

Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, São Paulo, Brazil.

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http://dx.doi.org/10.1597/06-170.1DOI Listing
September 2008

Speech-language and hearing findings in the cardio-facial-cutaneous syndrome.

Pro Fono 2004 May-Aug;16(2):179-86

Curso de Pós Graduação em Distúrbios da Comunicação Humana, Campo Fonoaudiológico da Universidade Federal de São Paulo.

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March 2005

Clinical genetic study of 144 patients with nonsyndromic hearing loss.

Am J Audiol 2004 Dec;13(2):99-103

Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, São Paulo, Brazil.

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http://dx.doi.org/10.1044/1059-0889(2004/013)DOI Listing
December 2004

Aural atresia and microtia in Kabuki syndrome.

Am J Med Genet A 2003 May;118A(4):391-3

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http://dx.doi.org/10.1002/ajmg.a.10189DOI Listing
May 2003

Auriculo-condylar syndrome: additional patients.

Am J Med Genet 2002 Oct;112(2):209-14

Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.10631DOI Listing
October 2002