Lista de obras - William T. Gibson - Dominio Público Uruguay

A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling

artículo científico publicado en 2017

A high-fat diet rich in corn oil reduces spontaneous locomotor activity and induces insulin resistance in mice

artículo científico publicado en 2014

A maternal high-fat, high-sucrose diet has sex-specific effects on fetal glucocorticoids with little consequence for offspring metabolism and voluntary locomotor activity in mice

artículo científico publicado en 2017

A novel microdeletion affecting the CETP gene raises HDL-associated cholesterol levels

artículo científico publicado en 2015

A novel mutation in EED associated with overgrowth

artículo científico publicado en 2015

A systematic review of genetic syndromes with obesity

artículo científico publicado en 2017

ACE 2 Coding Variants: A Potential X-linked Risk Factor for COVID-19 Disease

artículo científico publicado en 2020

Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.

artículo científico publicado en 2015

Absence of stearoyl-CoA desaturase-1 ameliorates features of the metabolic syndrome in LDLR-deficient mice.

scientific article published on 24 October 2007

Acute disruption of leptin signaling in vivo leads to increased insulin levels and insulin resistance.

artículo científico publicado en 2011

Acylated ghrelin is not required for the surge in pituitary growth hormone observed in pregnant mice

artículo científico publicado en 2015

Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture

artículo científico publicado en 2015

Autosomal dominant PIK3R1 mutations cause SHORT syndrome

artículo científico publicado en 2013

Beneficial metabolic phenotypes caused by loss-of-function APOC3 mutations

scientific article published on 14 October 2014

Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome

artículo científico publicado en 2014

Body weight is modulated by levels of full-length huntingtin

artículo científico publicado en 2006

Clinical study of two brothers with a novel 33 bp duplication in theARXgene

article

Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy

artículo científico publicado en 2004

Core Concepts in Human Genetics: Understanding the Complex Phenotype of Sport Performance and Susceptibility to Sport Injury.

artículo científico publicado en 2016

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

artículo científico publicado en 2009

Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4

scientific article published on 04 December 2010

Duplication of AKT3 is associated with macrocephaly and speech delay

artículo científico publicado en 2014

EED-associated overgrowth in a second male patient

artículo científico publicado en 2016

Effects of glucose and insulin on acyl ghrelin and desacyl ghrelin, leptin, and adiponectin in pregnant women with diabetes

artículo científico publicado en 2009

Episodic ataxia associated with a de novo SCN2A mutation

artículo científico publicado en 2016

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

artículo científico publicado en 2013

Genetic association studies for complex traits: relevance for the sports medicine practitioner

artículo científico publicado en 2008

Genetic counseling in direct-to-consumer exome sequencing: a case report.

artículo científico publicado en 2014

Ghrelin, Ghrelin O-Acyltransferase, and Carbohydrate Metabolism During Pregnancy in Calorie-Restricted Mice

artículo científico publicado en 2016

Key concepts in human genetics: understanding the complex phenotype

artículo científico publicado en 2009

Ldlr-/- mice display decreased susceptibility to Western-type diet-induced obesity due to increased thermogenesis

artículo científico publicado en 2010

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

artículo científico publicado en 2020

Melanin-concentrating hormone receptor mutations and human obesity: functional analysis

artículo científico publicado en 2004

Mutational analysis of the serotonin receptor 5HT2c in severe early-onset human obesity.

artículo científico publicado en 2004

Mutations in EZH2 cause Weaver syndrome

artículo científico publicado en 2011

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

artículo científico publicado en 2015

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

artículo científico publicado en 2013

Mycophenolate mofetil and atherosclerosis: results of animal and human studies.

artículo científico publicado en 2007

NSD1 mutations generate a genome-wide DNA methylation signature.

artículo científico publicado en 2015

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

artículo científico publicado en 2007

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

artículo científico publicado en 2006

PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes

scientific article published on 14 November 2019

Partial leptin deficiency and human adiposity.

artículo científico publicado en 2001

Phenotype–genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3

article

Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons

artículo científico publicado en 2010

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

artículo científico publicado en 2015

Rare SUZ12 variants commonly cause an overgrowth phenotype

scientific article published on 17 November 2019

Reciprocal skeletal phenotypes of PRC2-related overgrowth and Rubinstein-Taybi syndromes: potential role of H3K27 modifications

artículo científico publicado en 2020

SETD1B-associated neurodevelopmental disorder

artículo científico publicado en 2020

Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria

artículo científico publicado en 2008

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis

artículo científico publicado en 2014

TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex

artículo científico publicado en 2017

The beat goes on: ciliary proteins are defective in Meckel syndrome

artículo científico publicado en 2006

The immunoglobulin heavy chain and disease association: application to pemphigus vulgaris

scientific article published on 01 December 1994

The metabolic phenotype of SCD1-deficient mice is independent of melanin-concentrating hormone

artículo científico publicado en 2009

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

artículo científico publicado en 2016

Vasoactive intestinal polypeptide promotes intestinal barrier homeostasis and protection against colitis in mice.

artículo científico publicado en 2015

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro

scientific journal article

Lista de obras de William T. Gibson

A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling

A high-fat diet rich in corn oil reduces spontaneous locomotor activity and induces insulin resistance in mice

A maternal high-fat, high-sucrose diet has sex-specific effects on fetal glucocorticoids with little consequence for offspring metabolism and voluntary locomotor activity in mice

A novel microdeletion affecting the CETP gene raises HDL-associated cholesterol levels

A novel mutation in EED associated with overgrowth

A systematic review of genetic syndromes with obesity

ACE 2 Coding Variants: A Potential X-linked Risk Factor for COVID-19 Disease

Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.

Absence of stearoyl-CoA desaturase-1 ameliorates features of the metabolic syndrome in LDLR-deficient mice.

Acute disruption of leptin signaling in vivo leads to increased insulin levels and insulin resistance.

Acylated ghrelin is not required for the surge in pituitary growth hormone observed in pregnant mice

Alternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical picture

Autosomal dominant PIK3R1 mutations cause SHORT syndrome

Beneficial metabolic phenotypes caused by loss-of-function APOC3 mutations

Biallelic mutations at PPARG cause a congenital, generalized lipodystrophy similar to the Berardinelli-Seip syndrome

Body weight is modulated by levels of full-length huntingtin

Clinical study of two brothers with a novel 33 bp duplication in theARXgene

Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy

Core Concepts in Human Genetics: Understanding the Complex Phenotype of Sport Performance and Susceptibility to Sport Injury.

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

Duchenne muscular dystrophy caused by a complex rearrangement between intron 43 of the DMD gene and chromosome 4

Duplication of AKT3 is associated with macrocephaly and speech delay

EED-associated overgrowth in a second male patient

Effects of glucose and insulin on acyl ghrelin and desacyl ghrelin, leptin, and adiponectin in pregnant women with diabetes

Episodic ataxia associated with a de novo SCN2A mutation

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.

Genetic association studies for complex traits: relevance for the sports medicine practitioner

Genetic counseling in direct-to-consumer exome sequencing: a case report.

Ghrelin, Ghrelin O-Acyltransferase, and Carbohydrate Metabolism During Pregnancy in Calorie-Restricted Mice

Key concepts in human genetics: understanding the complex phenotype

Ldlr-/- mice display decreased susceptibility to Western-type diet-induced obesity due to increased thermogenesis

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Melanin-concentrating hormone receptor mutations and human obesity: functional analysis

Mutational analysis of the serotonin receptor 5HT2c in severe early-onset human obesity.

Mutations in EZH2 cause Weaver syndrome

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.

Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism

Mycophenolate mofetil and atherosclerosis: results of animal and human studies.

NSD1 mutations generate a genome-wide DNA methylation signature.

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes

Partial leptin deficiency and human adiposity.

Phenotype–genotype characterization of alpha-thalassemia mental retardation syndrome due to isolated monosomy of 16p13.3

Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons

Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

Rare SUZ12 variants commonly cause an overgrowth phenotype

Reciprocal skeletal phenotypes of PRC2-related overgrowth and Rubinstein-Taybi syndromes: potential role of H3K27 modifications

SETD1B-associated neurodevelopmental disorder

Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria

Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis

TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex

The beat goes on: ciliary proteins are defective in Meckel syndrome

The immunoglobulin heavy chain and disease association: application to pemphigus vulgaris

The metabolic phenotype of SCD1-deficient mice is independent of melanin-concentrating hormone

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

Vasoactive intestinal polypeptide promotes intestinal barrier homeostasis and protection against colitis in mice.

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro