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List of works by Regina Celia Mingroni Netto

A Cell Junctional Protein Network Associated with Connexin-26

scientific article published on 27 August 2018

A note on the use of the generalized odds ratio in meta-analysis of association studies involving bi- and tri-allelic polymorphisms ⬇️

scientific article published on June 6, 2011

A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family

scientific article

A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21.

scientific article published on 21 January 2009

A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome.

scientific article

A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3.

scientific article published on 21 May 2008

A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family.

scientific article published in February 2009

A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects.

scientific article

ADRB2 and LEPR gene polymorphisms: synergistic effects on the risk of obesity in Japanese

scientific article published on 13 January 2011

AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations.

scientific article published in January 2005

Aberrant transcript produced by a splice donor site deletion in the TECTA gene is associated with autosomal dominant deafness in a Brazilian family ⬇️

scientific article published on September 17, 2012

Association of polymorphisms at the ADIPOR1 regulatory region with type 2 diabetes and body mass index in a Brazilian population with European or African ancestry.

scientific article

Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss.

scientific article published on 7 June 2018

Cochlea cell-specific marker expression upon in vitro Hes1 knockdown

scientific article published in 2021

Correspondence regarding Ballana et al., "Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment".

scientific article published on 20 March 2006

DXS548/FRAXAC1 haplotypes in fragile X chromosomes in the Brazilian population

scientific article published on 01 May 1999

Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss.

scientific article published on 18 February 2014

Distribution of CGG repeats and FRAXAC1/DXS548 alleles in South American populations.

scientific article published in August 2002

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

scientific article published on 6 December 2011

Estimation of inbreeding and substructure levels in African-derived Brazilian quilombo populations

scientific article published on October 2014

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

scientific article

Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss

scientific article published in 2021

Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys

scientific article published on 01 May 1999

Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans

scientific article published on 04 December 2018

Genomic ancestry of rural African-derived populations from Southeastern Brazil.

scientific article published on 2 November 2012

HLA imputation in an admixed population: An assessment of the 1000 Genomes data as a training set.

scientific article

Inbreeding estimates in human populations: Applying new approaches to an admixed Brazilian isolate.

scientific article published on 24 April 2018

Inferring paternal history of rural African-derived Brazilian populations from Y chromosomes

scientific article published on 20 October 2016

Multilocus analyses of seven candidate genes suggest interacting pathways for obesity-related traits in Brazilian populations.

scientific article published on 13 January 2011

Multilocus family-based association analysis of seven candidate polymorphisms with essential hypertension in an african-derived semi-isolated brazilian population.

scientific article

Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.

scientific article published on 8 May 2018

Novel OTOF mutations in Brazilian patients with auditory neuropathy.

scientific article

Novel frameshift variant in gene SALL4 causing Okihiro syndrome

scientific article published on 11 January 2016

Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family

scientific article published on 30 April 2015

Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

scientific article

Polymorphic Alu insertions in six Brazilian African-derived populations

scientific article published on 01 May 2004

Population variation of HLA genes in rural communities in Brazil, the Quilombos from the Vale do Ribeira, São Paulo - Brazil

scientific article published on 06 April 2016

Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.

scientific article published in February 2009

Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion ofWNT-4,RAR-gamma, andRXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women

article

Retention of progenitor cell phenotype in otospheres from guinea pig and mouse cochlea ⬇️

scientific article published on November 18, 2010

Santos syndrome is caused by mutation in the WNT7A gene

scientific article published on 31 August 2017

Short Report - Clinical Genetics Genomic copy number alterations in non-syndromic hearing loss

scientific article published on 12 October 2015

Stem Cells from Human Exfoliated Deciduous Teeth (SHED) Differentiate in vivo and Promote Facial Nerve Regeneration

scientific article published on 31 October 2018

Stem-cell therapy for hearing loss: are we there yet?

scientific article published on 18 May 2019

Strategies for genetic study of hearing loss in the Brazilian northeastern region

scientific article published on 17 February 2014

Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing

scientific article published on 16 October 2018

The search of a genetic basis for noise-induced hearing loss (NIHL).

scientific article published on 3 September 2010

Transplantation and survival of mouse inner ear progenitor/stem cells in the organ of Corti after cochleostomy of hearing-impaired guinea pigs: preliminary results.

scientific article

Waardenburg syndrome: Novel mutations in a large Brazilian sample.

scientific article

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations.

scientific article published in January 2006

c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family.

scientific article published on October 2014

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