Lista de obras - Kwanghyuk Lee - Dominio Público Uruguay

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

artículo científico publicado en 2012

A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.

artículo científico publicado en 2006

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

artículo científico publicado en 2006

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

artículo científico publicado en 2011

A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.

artículo científico

A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.

artículo científico publicado en 2005

A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia.

artículo científico publicado en 2010

A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.

artículo científico publicado en 2018

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.

artículo científico publicado en 2015

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

artículo científico publicado en 2014

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

artículo científico publicado en 2012

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

artículo científico publicado en 2011

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

artículo científico publicado en 2016

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

artículo científico publicado en 2015

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

artículo científico publicado en 2014

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

artículo científico publicado en 2018

DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.

artículo científico publicado en 2006

DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.

artículo científico publicado en 2010

Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.

artículo científico publicado en 2006

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

artículo científico publicado en 2018

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74

artículo científico publicado en 2010

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

artículo científico publicado en 2010

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.

artículo científico publicado en 2018

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).

artículo científico publicado en 2009

Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.

artículo científico publicado en 2008

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.

artículo científico publicado en 2005

Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32.

artículo científico publicado en 2006

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

artículo científico publicado en 2011

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

artículo científico publicado en 2018

Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2.

artículo científico publicado en 2007

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

artículo científico publicado en 2016

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

artículo científico publicado en 2013

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

artículo científico publicado en 2014

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

artículo científico publicado en 2008

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

artículo científico publicado en 2011

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

artículo científico publicado en 2009

Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.

artículo científico publicado en 2012

Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.

artículo científico publicado en 2012

Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment

artículo científico publicado en 2011

Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.

artículo científico publicado en 2009

Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.

artículo científico publicado en 2011

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

article

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment

artículo científico publicado en 2018

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

artículo científico publicado en 2015

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

artículo científico publicado en 2005

Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.

artículo científico publicado en 2005

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

artículo científico publicado en 2013

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

artículo científico publicado en 2017

Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.

artículo científico publicado en 2007

Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region

artículo científico publicado en 2010

The genetics of colored sequence synesthesia: suggestive evidence of linkage to 16q and genetic heterogeneity for the condition.

artículo científico publicado en 2011

The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23

artículo científico publicado en 2006

Lista de obras de Kwanghyuk Lee

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.

A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3.

A novel autosomal recessive non-syndromic hearing impairment locus (DFNB47) maps to chromosome 2p25.1-p24.3.

A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia.

A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter-Thompson type.

A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.

Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.

Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa

DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2.

DFNB89, a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2.

Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections.

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).

Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2.

Localization of a novel autosomal recessive nonsyndromic hearing impairment locus DFNB65 to chromosome 20q13.2-q13.32.

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

Mapping of a gene for alopecia with mental retardation syndrome (APMR3) on chromosome 18q11.2-q12.2.

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness

Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

Novel CLDN14 mutations in Pakistani families with autosomal recessive non-syndromic hearing loss.

Novel OTOA mutations cause autosomal recessive non-syndromic hearing impairment in Pakistani families.

Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment

Novel autosomal recessive non-syndromic hearing impairment locus (DFNB71) maps to chromosome 8p22-21.3.

Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability

Novel missense and 3'-UTR splice site variants in LHFPL5 cause autosomal recessive nonsyndromic hearing impairment

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

Novel sequence variants in the TMIE gene in families with autosomal recessive nonsyndromic hearing impairment.

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.

Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region

The genetics of colored sequence synesthesia: suggestive evidence of linkage to 16q and genetic heterogeneity for the condition.

The mapping of DFNB62, a new locus for autosomal recessive non-syndromic hearing impairment, to chromosome 12p13.2-p11.23