Lista de obras - Güney Bademci - Dominio Público Uruguay

A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia

artículo científico publicado en 2018

A Mayan founder mutation is a common cause of deafness in Guatemala

artículo científico publicado en 2015

A founder non-coding GALT variant interfering with splicing causes galactosemia

artículo científico publicado en 2020

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes

artículo científico publicado en 2016

A novel mutation in the ARS (component B) gene encoding SLURP-1 in a Turkish family with mal de Meleda

article

Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families

scientific article published on 17 February 2020

Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria

artículo científico publicado en 2014

Comparison of three targeted enrichment strategies on the SOLiD sequencing platform

artículo científico publicado en 2011

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

artículo científico publicado en 2015

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

artículo científico publicado en 2015

Conventional and molecular cytogenetic analyses in Turkish patients with multiple myeloma.

scientific article published on 15 June 2012

Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation.

artículo científico publicado en 2017

Evidence for genotype-phenotype correlation for OTOF mutations

artículo científico publicado en 2014

Exploring the relationship between the severity of oligozoospermia and the frequencies of sperm chromosome aneuploidies.

artículo científico publicado en 2012

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.

artículo científico publicado en 2014

High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2

artículo científico publicado en 2013

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

artículo científico publicado en 2018

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.

artículo científico publicado en 2014

Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach

artículo científico publicado en 2011

MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation

artículo científico publicado en 2015

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

artículo científico publicado en 2011

Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features

artículo científico publicado en 2017

Novel EYA1 variants causing Branchio-oto-renal syndrome

artículo científico publicado en 2017

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

artículo científico publicado en 2015

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations

artículo científico publicado en 2015

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

artículo científico publicado en 2015

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort

artículo científico publicado en 2017

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.

artículo científico publicado en 2016

Research of genetic bases of hereditary non-syndromic hearing loss.

artículo científico publicado en 2017

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

artículo científico publicado en 2016

Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil

artículo científico publicado en 2016

Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease

artículo científico publicado en 2012

Variants in CIB2 cause DFNB48 and not USH1J.

artículo científico publicado en 2017

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

artículo científico publicado en 2016

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

artículo científico publicado en 2013

Whole-exome sequencing and its impact in hereditary hearing loss

artículo científico publicado en 2015

Lista de obras de Güney Bademci

A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia

A Mayan founder mutation is a common cause of deafness in Guatemala

A founder non-coding GALT variant interfering with splicing causes galactosemia

A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes

A novel mutation in the ARS (component B) gene encoding SLURP-1 in a Turkish family with mal de Meleda

Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families

Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria

Comparison of three targeted enrichment strategies on the SOLiD sequencing platform

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Conventional and molecular cytogenetic analyses in Turkish patients with multiple myeloma.

Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation.

Evidence for genotype-phenotype correlation for OTOF mutations

Exploring the relationship between the severity of oligozoospermia and the frequencies of sperm chromosome aneuploidies.

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.

High-resolution survey in familial Parkinson disease genes reveals multiple independent copy number variation events in PARK2

Identification of candidate gene FAM183A and novel pathogenic variants in known genes: High genetic heterogeneity for autosomal recessive intellectual disability

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss.

Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach

MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features

Novel EYA1 variants causing Branchio-oto-renal syndrome

Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations

Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort

ROR1 is essential for proper innervation of auditory hair cells and hearing in humans and mice.

Research of genetic bases of hereditary non-syndromic hearing loss.

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Targeted Resequencing of Deafness Genes Reveals a Founder MYO15A Variant in Northeastern Brazil

Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease

Variants in CIB2 cause DFNB48 and not USH1J.

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

Whole-exome sequencing and its impact in hereditary hearing loss