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List of works by 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.

scientific article published on 7 September 2012

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

scientific article

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

scientific article published in June 2003

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

scientific article published in August 2003

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 4 May 2017

DNA polymorphisms as tools for spinal cord injury research.

scientific article published on 27 May 2008

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 7 May 2015

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

scientific article published on 10 September 2016

Polymorphisms of mitochondrial DNA control region are associated to endometriosis

scientific article

Post-mortem cytogenomic investigations in patients with congenital malformations

scientific article published on 20 July 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?

scientific article published on 24 March 2014

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

scientific article

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

scientific article published on 01 October 1998

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

scientific article

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