Lista de obras - Chong Kun Cheon - Dominio Público Uruguay

A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency

scientific article published on 01 March 2019

A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.

artículo científico publicado en 2008

A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion.

artículo científico publicado en 2011

A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome

artículo científico publicado en 2014

A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature

artículo científico publicado en 2014

A phase II feasibility study of weekly paclitaxel in heavily pretreated advanced gastric cancer patients with poor performance status

scientific article published on 14 December 2009

A phase II study of a combined biweekly irinotecan and monthly cisplatin treatment for metastatic or recurrent gastric cancer.

artículo científico publicado en 2010

A randomized phase 2 study of docetaxel and S-1 versus docetaxel and cisplatin in advanced gastric cancer with an evaluation of SPARC expression for personalized therapy

scientific article published on 29 November 2010

A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture.

artículo científico publicado en 2017

Association of Obesity or Overweight with Bone Health in Childhood and Adolescence: Another Health Risk Never to Be Underestimated

artículo científico publicado en 2017

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene.

artículo científico publicado en 2017

Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy

artículo científico publicado en 2017

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases ⬇️

artículo científico publicado en 2011

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency

artículo científico publicado en 2015

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

artículo científico publicado en 2021

Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome

artículo científico publicado en 2018

Considerations for evaluating the effectiveness and long-term outcome of enzyme replacement therapy in Pompe disease

artículo científico publicado en 2019

Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea

artículo científico publicado en 2020

Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies

artículo científico publicado en 2016

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism

artículo científico publicado en 2015

Docetaxel versus paclitaxel combined with 5-FU and leucovorin in advanced gastric cancer: combined analysis of two phase II trials

artículo científico publicado en 2009

Evaluation and management of amenorrhea related to congenital sex hormonal disorders

scientific article published on 30 September 2019

Functional Characterization of Gomisin N in High-Fat-Induced Drosophila Obesity Models

scientific article published on 29 September 2020

Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome

artículo científico publicado en 2016

High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.

artículo científico publicado en 2017

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

artículo científico

Incidence trends and associated factors of diabetes mellitus in Korean children and adolescents: a retrospective cohort study in Busan and Gyeongnam.

artículo científico publicado en 2015

Kabuki syndrome: clinical and molecular characteristics

artículo científico publicado en 2015

Melkersson-Rosenthal syndrome with Hashimoto thyroiditis in a 9-year-old girl: an autoimmune disorder

artículo científico publicado en 2014

NEU1 mutation in a Korean infant with type 2 sialidosis presenting as isolated fetal ascites.

artículo científico publicado en 2014

Neurofibromatosis type 1: a single center's experience in Korea.

artículo científico publicado en 2014

Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency

artículo científico publicado en 2016

Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.

artículo científico publicado en 2010

Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients

artículo científico publicado en 2014

OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.

artículo científico publicado en 2014

Practical approach to steroid 5alpha-reductase type 2 deficiency.

artículo científico publicado en 2010

Prader-Willi syndrome: a single center's experience in Korea

artículo científico publicado en 2014

The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis

artículo científico publicado en 2014

The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome

artículo científico publicado en 2009

The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.

artículo científico publicado en 2015

Three cases of pediatric patients with testicular microlithiasis showing gynecomastia and testicular enlargement.

artículo científico publicado en 2013

Two adolescent patients with coexistent Graves' disease and Moyamoya disease in Korea.

artículo científico publicado en 2014

Understanding of type 1 diabetes mellitus: What we know and where we go

artículo científico publicado en 2018

Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease

artículo científico

Vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in a Korean population.

artículo científico publicado en 2015

Lista de obras de Chong Kun Cheon

A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency

A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.

A case of partial trisomy 20p resulting from meiotic recombination of a maternal pericentric inversion.

A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome

A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature

A phase II feasibility study of weekly paclitaxel in heavily pretreated advanced gastric cancer patients with poor performance status

A phase II study of a combined biweekly irinotecan and monthly cisplatin treatment for metastatic or recurrent gastric cancer.

A randomized phase 2 study of docetaxel and S-1 versus docetaxel and cisplatin in advanced gastric cancer with an evaluation of SPARC expression for personalized therapy

A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture.

Association of Obesity or Overweight with Bone Health in Childhood and Adolescence: Another Health Risk Never to Be Underestimated

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene.

Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases ⬇️

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome

Considerations for evaluating the effectiveness and long-term outcome of enzyme replacement therapy in Pompe disease

Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea

Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism

Docetaxel versus paclitaxel combined with 5-FU and leucovorin in advanced gastric cancer: combined analysis of two phase II trials

Evaluation and management of amenorrhea related to congenital sex hormonal disorders

Functional Characterization of Gomisin N in High-Fat-Induced Drosophila Obesity Models

Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome

High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

Incidence trends and associated factors of diabetes mellitus in Korean children and adolescents: a retrospective cohort study in Busan and Gyeongnam.

Kabuki syndrome: clinical and molecular characteristics

Melkersson-Rosenthal syndrome with Hashimoto thyroiditis in a 9-year-old girl: an autoimmune disorder

NEU1 mutation in a Korean infant with type 2 sialidosis presenting as isolated fetal ascites.

Neurofibromatosis type 1: a single center's experience in Korea.

Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency

Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.

Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients

OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.

Practical approach to steroid 5alpha-reductase type 2 deficiency.

Prader-Willi syndrome: a single center's experience in Korea

The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis

The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome

The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.

Three cases of pediatric patients with testicular microlithiasis showing gynecomastia and testicular enlargement.

Two adolescent patients with coexistent Graves' disease and Moyamoya disease in Korea.

Understanding of type 1 diabetes mellitus: What we know and where we go

Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease

Vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in a Korean population.