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List of works by Denise Maria Christofolini

+1730 G/A polymorphism of the estrogen receptor beta gene (ERbeta) may be an important genetic factor predisposing to endometriosis.

scientific article

22q11.2 deletion in patients with conotruncal heart defect and del22q syndrome phenotype.

scientific article published in April 2009

45,X karyotype in an infertile man: how is this possible?

scientific article

A rare case of trisomy 15pter-q21.2 due to a de novo marker chromosome

scientific article published in March 2010

AMH and AMHR2 polymorphisms and AMH serum level can predict assisted reproduction outcomes: a cross-sectional study

scientific article

AMH: An ovarian reserve biomarker in assisted reproduction.

scientific article published on 30 July 2014

Aberrant telomerase expression in the endometrium of infertile women with deep endometriosis.

scientific article published on 8 December 2013

Ala307Thr and Asn680Ser polymorphisms of FSHR gene in human reproduction outcomes.

scientific article published on 9 October 2014

Analysis of CTLA4 gene variant in infertile Brazilian women with and without endometriosis.

scientific article published on 16 February 2011

Analysis of FOXP3 polymorphisms in infertile women with and without endometriosis.

scientific article

Analysis of FokI polymorphism of vitamin D receptor gene in intervertebral disc degeneration

scientific article

Analysis of vitamin D receptor gene polymorphisms in women with and without endometriosis

scientific article published on 26 January 2011

Are FSHR polymorphisms risk factors to premature ovarian insufficiency?

scientific article

Are ovarian reserve tests reliable in predicting ovarian response? Results from a prospective, cross-sectional, single-center analysis

scientific article published on 02 July 2020

Assessment of 22q11.2 copy number variations in a sample of Brazilian schizophrenia patients

article

Association of BMP15 and GDF9 variants to premature ovarian insufficiency

scientific article published on 07 August 2019

Association of FCRL3 -169T/C polymorphism with endometriosis and identification of a protective haplotype against the development of the disease in Brazilian population

scientific article published on 24 May 2011

Association of FCRL3 C-169T promoter single-nucleotide polymorphism with idiopathic infertility and infertility-related endometriosis

scientific article published on 06 May 2011

Association of WNT4 polymorphisms with endometriosis in infertile patients

scientific article

Association of the +331G/A progesterone receptor gene (PgR) polymorphism with risk of endometrial cancer in Caucasian women: a meta-analysis.

scientific article published on 20 July 2014

Association of the intercellular adhesion molecule-1 (ICAM-1) gene polymorphisms with endometriosis: a systematic review and meta-analysis

scientific article published on 10 April 2015

Association of the progesterone receptor gene polymorphism (PROGINS) with endometriosis: a meta-analysis

scientific article published on 19 June 2014

Association of the protein tyrosine phosphatase non-receptor 22 polymorphism (PTPN22) with endometriosis: a meta-analysis.

scientific article

Autistic disorder phenotype associated to a complex 15q intrachromosomal rearrangement

scientific article published on 22 August 2012

Body mass index and fertility: is there a correlation with human reproduction outcomes?

scientific article published on 8 June 2010

COMT polymorphism and the risk of endometriosis-related infertility

scientific article published on 15 April 2011

COMT polymorphism influences decrease of ovarian follicles and emerges as a predictive factor for premature ovarian insufficiency

scientific article

CYP2C19 polymorphism increases the risk of endometriosis.

scientific article

Candidate genes for schizophrenia in a mixed Brazilian population using pooled DNA.

scientific article published on 16 February 2013

Chlorophyllin-M: A new substance for photodynamic therapy in the retina and choroid

scientific article published on 14 May 2015

Chromosomal and molecular abnormalities in a group of Brazilian infertile men with severe oligozoospermia or non-obstructive azoospermia attending an infertility service.

scientific article

Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree

scientific article published on 20 April 2020

Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion.

scientific article published on 3 April 2014

Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications.

scientific article published on 24 April 2014

Copy number variation analysis reveals additional variants contributing to endometriosis development.

scientific article published on 5 November 2016

Cytogenetic and molecular evaluation and 20-year follow-up of a patient with ring chromosome 14

scientific article published on 01 November 2010

Cytogenetic molecular delineation of a terminal 18q deletion suggesting neo-telomere formation

scientific article published on 15 September 2010

Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype.

scientific article published on 20 January 2012

DRD1 rs4532 polymorphism: A potential pharmacogenomic marker for treatment response to antipsychotic drugs

scientific article published on 01 October 2012

Deletion 22q11.2: report of a complex meiotic mechanism of origin

scientific article published on 01 August 2007

ESR1 and ESR2 gene polymorphisms are associated with human reproduction outcomes in Brazilian women.

scientific article

Evaluating influence of the genotypes in the follicle-stimulating hormone receptor (FSHR) Ser680Asn (rs6166) polymorphism on poor and hyper-responders to ovarian stimulation: a meta-analysis.

scientific article

Evaluation of clinical checklists for fragile X syndrome screening in Brazilian intellectually disabled males: proposal for a new screening tool.

scientific article published in September 2009

Evaluation of the frequency of G-765C polymorphism in the promoter region of the COX-2 gene and its correlation with the expression of this gene in the endometrium of women with endometriosis

scientific article published on 8 July 2015

Genetic analysis of products of conception. Should we abandon classic karyotyping methodology?

scientific article published on 18 June 2021

Genetic aspects of premature ovarian failure: a literature review ⬇️

scientific article published on December 29, 2010

Genetic association study of polymorphisms FOXP3 and FCRL3 in women with endometriosis.

scientific article published on 16 February 2012

Genetic variants in fibrinolytic system-related genes in infertile women with and without endometriosis.

scientific article published on 5 August 2011

How polymorphic markers contribute to genetic diseases in different populations? The study of inhibin A for premature ovarian insufficiency

scientific article published in July 2017

Hydrocephaly, penoscrotal transposition, and digital anomalies associated with de novo pseudodicentric rearranged chromosome 13 characterized by classical cytogenetic methods and mBAND analysis.

scientific article published in June 2006

Incidence of Y-chromosome microdeletions in children whose fathers underwent vasectomy reversal or in vitro fertilization with epididymal sperm aspiration: a case-control study.

scientific article published on October 2016

Is there any relation between anthropometric indices and decrease in seminal parameters?

scientific article published on January 2014

Low dose of rFSH [100 IU] in controlled ovarian hyperstimulation response: a pilot study

scientific article published on 21 January 2014

Luteinizing hormone beta-subunit gene (LHbeta) polymorphism in infertility and endometriosis-associated infertility.

scientific article published on 28 April 2010

MTHFR polymorphisms C677T and A1298C and associations with IVF outcomes in Brazilian women.

scientific article published on 4 March 2014

Male infertility related to an aberrant karyotype, 46,XY,9ph,9qh+.

scientific article published on 19 December 2008

Methylenetetrahydrofolate reductase polymorphisms are related to male infertility in Brazilian men.

scientific article published on 7 December 2010

Oocyte Quality in Patients with Increased FSH Levels

scientific article

PRODH polymorphisms, cortical volumes and thickness in schizophrenia

scientific article published on 03 February 2014

Plasminogen activator inhibitor-1 4G/5G polymorphism in infertile women with and without endometriosis.

scientific article

Polymorphism of the estrogen receptor β gene is related to infertility and infertility-associated endometriosis.

scientific article

Polymorphisms in folate-related enzyme genes in idiopathic infertile Brazilian men

scientific article published on 20 July 2011

Polymorphisms of estrogen receptors alpha and beta in idiopathic, infertile Brazilian men: a case-control study

scientific article published on 05 August 2011

Potential of RASSF1A promoter methylation as biomarker for endometrial cancer: A systematic review and meta-analysis

scientific article

Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy.

scientific article published on 21 September 2017

Prevalence of cases of Mycoplasma hominis, Mycoplasma genitalium, Ureaplasma urealyticum and Chlamydia trachomatis in women with no gynecologic complaints.

scientific article

Promoter -817C>T variant of B lymphocyte stimulator gene (BLyS) and susceptibility to endometriosis-related infertility and idiopathic infertility in Brazilian population.

scientific article published in December 2011

Psychic suffering and depression in black children and adolescents: systematic review and meta-analysis

publication published on 16 July 2021

Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes

scientific article published on 01 October 2008

Randomized double-blind clinical trial comparing two anesthetic techniques for ultrasound-guided transvaginal follicular puncture

scientific article published on July 2016

Reproductive alternatives for patients with dystrophic epidermolysis bullosa

scientific article published on 13 June 2019

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

scientific article published on 18 December 2012

Ring chromosome instability evaluation in six patients with autosomal rings.

scientific article published on 26 January 2010

Risk of premature ovarian failure is associated to the PvuII polymorphism at estrogen receptor gene ESR1

scientific article

Severe oligospermia associated with a unique balanced reciprocal translocation t(6;12)(q23;q24.3): male infertility related to t(6;12).

scientific article published on 19 December 2010

Subtelomeric rearrangements and copy number variations in people with intellectual disabilities.

scientific article

TYK2 rs34536443 polymorphism is associated with a decreased susceptibility to endometriosis-related infertility

scientific article published on 20 September 2012

The UFD1L rs5992403 polymorphism is associated with age at onset of schizophrenia

scientific article published on 14 May 2010

The possible role of genetic variants in autoimmune-related genes in the development of endometriosis ⬇️

scientific article published on December 11, 2011

The progins progesterone receptor gene polymorphism is not related to endometriosis-associated infertility or to idiopathic infertility.

scientific article

There is no relationship between Paraoxonase serum level activity in women with endometriosis and the stage of the disease: an observational study.

scientific article published on 22 June 2013

Use of Bone Morphogenetic Protein 15 Polymorphisms to Predict Ovarian Stimulation Outcomes in Infertile Brazilian Women

scientific article published on 14 April 2017

Variants in endothelial nitric oxide synthase (eNOS) gene in idiopathic infertile Brazilian men.

scientific article published on 16 February 2013

Variants in follicle-stimulating hormone receptor gene in infertile Brazilian men and the correlation to FSH serum levels and sperm count.

scientific article published on 14 March 2012

Wide Clinical Variability in Cat Eye Syndrome Patients: Four Non-Related Patients and Three Patients from the Same Family ⬇️

scientific article published on August 10, 2012

Y chromosome microdeletions and varicocele as aetiological factors of male infertility: A cross-sectional study

scientific article published on 18 December 2017

ZDHHC8 gene may play a role in cortical volumes of patients with schizophrenia

scientific article

[Analysis of codon 72 polymorphism of the TP53 gene in infertile women with and without endometriosis].

scientific article published in January 2011

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