Lista de obras - Kyriacos Markianos - Dominio Público Uruguay

A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.

artículo científico publicado en 2003

A cryptic subgroup of Anopheles gambiae is highly susceptible to human malaria parasites

artículo científico publicado en 2011

A major genetic locus controlling natural Plasmodium falciparum infection is shared by East and West African Anopheles gambiae

artículo científico publicado en 2007

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

artículo científico publicado en 2016

Association mapping by pooled sequencing identifies TOLL 11 as a protective factor against Plasmodium falciparum in Anopheles gambiae

artículo científico publicado en 2015

Biallelic mutations in human DCC cause developmental split-brain syndrome.

artículo científico publicado en 2017

Comparative RNA editing in autistic and neurotypical cerebella.

artículo científico publicado en 2012

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

artículo científico publicado en 2018

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

artículo científico publicado en 2015

Diffractively Produced Charm Final States in800−GeV/cppCollisions

scientific article published in Physical Review Letters

Evolution of GOUNDRY, a cryptic subgroup of Anopheles gambiae s.l., and its impact on susceptibility to Plasmodium infection

artículo científico publicado en 2016

Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

artículo científico publicado en 2014

Finding prostate cancer susceptibility genes

artículo científico publicado en 2004

Genetic Structure of a Local Population of the Anopheles gambiae Complex in Burkina Faso

artículo científico publicado en 2016

Genetic loci affecting resistance to human malaria parasites in a West African mosquito vector population

artículo científico publicado en 2002

Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.

artículo científico publicado en 2016

Identifying autism loci and genes by tracing recent shared ancestry

artículo científico publicado en 2008

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

scientific journal article

Lack of association of the serotonin transporter polymorphism with the sudden infant death syndrome in the San Diego Dataset

artículo científico publicado en 2010

Loss of PCLO function underlies pontocerebellar hypoplasia type III

artículo científico publicado en 2015

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

artículo científico publicado en 2015

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

artículo científico publicado en 2008

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

artículo científico publicado en 2014

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease

artículo científico publicado en 2016

Natural malaria infection in Anopheles gambiae is regulated by a single genomic control region

artículo científico publicado en 2006

No bias in linkage analysis

artículo científico publicado en 2004

Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus

artículo científico publicado en 2013

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

scientific article published on 23 August 2013

Ringed sideroblasts in β-thalassemia

artículo científico publicado en 2016

Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population

artículo científico publicado en 2009

The kdr-bearing haplotype and susceptibility to Plasmodium falciparum in Anopheles gambiae: genetic correlation and functional testing

artículo científico publicado en 2015

Using whole-exome sequencing to identify inherited causes of autism

artículo científico publicado en 2013

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations

artículo científico publicado en 2013

Λ0Polarization in800−GeV/cpp→pf(Λ0K+)

artículo científico publicado en 2002

Lista de obras de Kyriacos Markianos

A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.

A cryptic subgroup of Anopheles gambiae is highly susceptible to human malaria parasites

A major genetic locus controlling natural Plasmodium falciparum infection is shared by East and West African Anopheles gambiae

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

Association mapping by pooled sequencing identifies TOLL 11 as a protective factor against Plasmodium falciparum in Anopheles gambiae

Biallelic mutations in human DCC cause developmental split-brain syndrome.

Comparative RNA editing in autistic and neurotypical cerebella.

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.

Diffractively Produced Charm Final States in800−GeV/cppCollisions

Evolution of GOUNDRY, a cryptic subgroup of Anopheles gambiae s.l., and its impact on susceptibility to Plasmodium infection

Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

Finding prostate cancer susceptibility genes

Genetic Structure of a Local Population of the Anopheles gambiae Complex in Burkina Faso

Genetic loci affecting resistance to human malaria parasites in a West African mosquito vector population

Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants.

Identifying autism loci and genes by tracing recent shared ancestry

LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure

Lack of association of the serotonin transporter polymorphism with the sudden infant death syndrome in the San Diego Dataset

Loss of PCLO function underlies pontocerebellar hypoplasia type III

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease

Natural malaria infection in Anopheles gambiae is regulated by a single genomic control region

No bias in linkage analysis

Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus

Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy

Ringed sideroblasts in β-thalassemia

Serotonin-related FEV gene variant in the sudden infant death syndrome is a common polymorphism in the African-American population

The kdr-bearing haplotype and susceptibility to Plasmodium falciparum in Anopheles gambiae: genetic correlation and functional testing

Using whole-exome sequencing to identify inherited causes of autism

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations

Λ0Polarization in800−GeV/cpp→pf(Λ0K+)