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Lista de obras de Cintia Fridman

A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction

scientific article published on 01 January 2000

A new duplication in the mitochondrially encoded tRNA proline gene in a patient with dilated cardiomyopathy.

artículo científico publicado en 2012

Amerindian genetic ancestry is associated with higher survival rates compared to African and European ancestry in Brazilian patients with heart failure.

artículo científico publicado en 2014

Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene.

artículo científico publicado en 2003

Angelman syndrome: difficulties in EEG pattern recognition and possible misinterpretations.

artículo científico publicado en 2003

Angelman syndrome: uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns

artículo científico publicado en 2005

Assessment of the relationship between self-declared ethnicity, mitochondrial haplogroups and genomic ancestry in Brazilian individuals.

artículo científico publicado en 2013

Association of a new polymorphism in ALOX12 gene with bipolar disorder.

artículo científico publicado en 2003

CCDC22 gene polymorphism is associated with advanced stages of endometriosis in a sample of Brazilian women

artículo científico publicado en 2017

DNA polymorphisms as tools for spinal cord injury research.

artículo científico

Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13.

artículo científico publicado en 2006

Establishment and characterization of androgen-independent human prostate cancer cell lines, PcBra1, PcBra2, and PcBra3.

artículo científico publicado en 2009

Establishment and characterization of human bladder cancer cell lines BexBra1, BexBra2, and BexBra4.

artículo científico publicado en 2010

Growth hormone insensitivity with immune dysfunction caused by a STAT5B mutation in the south of Brazil: evidence for a founder effect

artículo científico publicado en 2017

Haplotype diversity in mitochondrial DNA hypervariable region in a population of southeastern Brazil.

artículo científico publicado en 2014

MYH9 and APOL1 gene polymorphisms and the risk of CKD in patients with lupus nephritis from an admixture population

artículo científico publicado en 2014

Mitochondrial and genomic ancestry are associated with etiology of heart failure in Brazilian patients.

artículo científico publicado en 2015

Polymorphisms of ICAM-1 and IL-6 genes related to endometriosis in a sample of Brazilian women.

artículo científico publicado en 2016

Polymorphisms of mitochondrial DNA control region are associated to endometriosis

artículo científico publicado en 2017

Post-mortem cytogenomic investigations in patients with congenital malformations

artículo científico publicado en 2016

Prader-Willi syndrome: genetic tests and clinical findings

scientific article published on 01 January 2000

The E180splice mutation in theGHRgene causing Laron syndrome: Witness of a Sephardic Jewish exodus from the Iberian Peninsula to the New World?

artículo científico publicado en 2014

The GHEP-EMPOP collaboration on mtDNA population data--A new resource for forensic casework

artículo científico publicado en 2010

Unusual clinical features in an Angelman syndrome patient with uniparental disomy due to a translocation 15q15q

artículo científico publicado en 1998

Y haplotype variability in a population of SÃO Paulo state, Brazil.

artículo científico publicado en 2016

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