Lista de obras - Elena G. Bochukova - Dominio Público Uruguay

A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome.

artículo científico publicado en 2018

A mutation in the thyroid hormone receptor alpha gene

artículo científico publicado en 2011

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

artículo científico publicado en 2010

CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.

artículo científico publicado en 2013

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis

artículo científico publicado en 2006

Clinical dividends from the molecular genetic diagnosis of craniosynostosis

artículo científico publicado en 2006

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

artículo científico publicado en 2007

Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety

artículo científico publicado en 2017

Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1

artículo científico publicado en 2014

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

scientific journal article

Genomic studies of gene expression: regulation of the Wilson disease gene

artículo científico publicado en 2003

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

artículo científico publicado en 2012

Human SH2B1 mutations are associated withmaladaptive behaviors and obesity

artículo científico publicado en 2013

Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

scientific article published on 17 January 2019

KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation

artículo científico publicado en 2013

Large, rare chromosomal deletions associated with severe early-onset obesity

artículo científico publicado en 2010

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis

artículo científico publicado en 2016

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

artículo científico publicado en 2004

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

artículo científico publicado en 2017

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily

artículo científico publicado en 2009

Rare variants in single-minded 1 (SIM1) are associated with severe obesity

artículo científico publicado en 2013

Rare variants in single-minded 1 (SIM1) areassociated with severe obesity.

artículo científico publicado en 2013

Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3).

artículo científico publicado en 1999

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis

artículo científico publicado en 2009

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency

artículo científico publicado en 2013

Simultaneous polychromatic flow cytometric detection of multiple forms of regulated cell death

artículo científico publicado en 2019

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

artículo científico publicado en 2013

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

artículo científico publicado en 2019

Lista de obras de Elena G. Bochukova

A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome.

A mutation in the thyroid hormone receptor alpha gene

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.

Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis

Clinical dividends from the molecular genetic diagnosis of craniosynostosis

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety

Functional characterization of obesity-associated variants involving the α and β isoforms of human SH2B1

Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity

Genomic studies of gene expression: regulation of the Wilson disease gene

Human SH2B1 mutations are associated with maladaptive behaviors and obesity

Human SH2B1 mutations are associated withmaladaptive behaviors and obesity

Human Semaphorin 3 Variants Link Melanocortin Circuit Development and Energy Balance

KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation

Large, rare chromosomal deletions associated with severe early-onset obesity

Mutation in human selenocysteine transfer RNA selectively disrupts selenoprotein synthesis

Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily

Rare variants in single-minded 1 (SIM1) are associated with severe obesity

Rare variants in single-minded 1 (SIM1) areassociated with severe obesity.

Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3).

Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis

Severe obesity and diabetes insipidus in a patient with PCSK1 deficiency

Simultaneous polychromatic flow cytometric detection of multiple forms of regulated cell death

Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension.

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis