Case Report

Published on 02 Dec 2021

Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report

in Genetics of Common and Rare Diseases

Magdalena Klaniewska
Krystian Toczewski
Anna Rozensztrauch
Michal Bloch
Agata Dzielendziak
Piotr Gasperowicz
Ryszard Slezak
Rafał Ploski
Małgorzata Rydzanicz
Robert Smigiel

Frontiers in Pediatrics

doi 10.3389/fped.2021.783553

2,796 views
5 citations

Case Report

Published on 01 Dec 2021

A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios

in Genetics of Common and Rare Diseases

Xiaoxia Wu
Le Huang
Caiqun Luo
Yang Liu
Jianmin Niu

Frontiers in Pediatrics

doi 10.3389/fped.2021.778814

2,603 views
7 citations

Original Research

Published on 25 Nov 2021

Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients

in Genetics of Common and Rare Diseases

Ping Wang
Jianbo Shu
Chunyu Gu
Xiaoli Yu
Jie Zheng
Chunhua Zhang
Chunquan Cai

Frontiers in Pediatrics

doi 10.3389/fped.2021.751895

5,126 views
3 citations

Original Research

Published on 19 Nov 2021

Quantification of Differential Metabolites in Dried Blood Spots Using Second-Tier Testing for SCADD/IBDD Disorders Based on Large-Scale Newborn Screening in a Chinese Population

in Genetics of Common and Rare Diseases

Wei Zhou
Heng Cai
Huizhong Li
Zhe Ji
Maosheng Gu

Frontiers in Pediatrics

doi 10.3389/fped.2021.757424

3,059 views
6 citations

Original Research

Published on 18 Nov 2021

Analysis of miRNA Profiles and the Regulatory Network in Congenital Pulmonary Airway Malformations

in Genetics of Common and Rare Diseases

Jiahang Zeng
Wei Liu
Jianhua Liang
Junzheng Peng
Fenghua Wang
Jue Tang
Qinglin Yang
Linwei Zhuang
Dongmei Huang
Le Li

Frontiers in Pediatrics

doi 10.3389/fped.2021.671107

2,783 views
4 citations

Original Research

Published on 12 Nov 2021

Three Novel and One Potential Hotspot CPT1A Variants in Chinese Patients With Carnitine Palmitoyltransferase 1A Deficiency

in Genetics of Common and Rare Diseases

Weifeng Zhang
Yanru Chen
Chunmei Lin
Weilin Peng
Qingliu Fu
Yiming Lin

Frontiers in Pediatrics

doi 10.3389/fped.2021.771922

2,787 views
1 citation

Original Research

Published on 05 Nov 2021

Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review

in Genetics of Common and Rare Diseases

Hui Bo
Lihong Jiang
Jiaqi Zheng
Jie Sun

Frontiers in Pediatrics

doi 10.3389/fped.2021.747353

4,183 views
6 citations

Original Research

Published on 26 Oct 2021

Association of Stress, Glucocorticoid Receptor, and FK506 Binding Protein Gene Polymorphisms With Internalizing Disorders Among HIV-Infected Children and Adolescents From Kampala and Masaka Districts—Uganda

in Genetics of Common and Rare Diseases

Tonny Jimmy Owalla
Wilber Joseph Ssebajjwe
Dennis Muhanguzi
Jacqueline Samantha Womersley
Eugene Kinyanda
Allan Kalungi

Frontiers in Pediatrics

doi 10.3389/fped.2021.666426

1,984 views

Case Report

Published on 21 Oct 2021

Prenatal Diagnosis of a Mosaic Paternal Uniparental Disomy for Chromosome 14: A Case Report of Kagami–Ogata Syndrome

in Genetics of Common and Rare Diseases

Fenxia Li
Siping Liu
Bei Jia
Ruifeng Wu
Qingxian Chang

Frontiers in Pediatrics

doi 10.3389/fped.2021.691761

2,259 views
4 citations

Case Report

Published on 21 Oct 2021

Case Report: Identification of Polygenic Mutations by Exome Sequencing

in Genetics of Common and Rare Diseases

Yanfeng Liu
Zhongshi Zheng
Qingling Zhu

Frontiers in Pediatrics

doi 10.3389/fped.2021.689901

2,409 views

Original Research

Published on 18 Oct 2021

Neonatal Metabolic Acidosis in the Neonatal Intensive Care Unit: What Are the Genetic Causes?

in Genetics of Common and Rare Diseases

Haiyan Ma
Zezhong Tang
Feifan Xiao
Long Li
Yangfang Li
Wenyan Tang
Liping Chen
Wenqing Kang
Yulan Lu
Xinran Dong

Frontiers in Pediatrics

doi 10.3389/fped.2021.727301

46,816 views
5 citations

Original Research

Published on 15 Oct 2021

The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis

in Genetics of Common and Rare Diseases

Yu'e Chen
Yingjun Xie
Yuying Jiang
Qi Luo
Lijing Shi
Shuhong Zeng
Jianlong Zhuang
Guorong Lyu

Frontiers in Pediatrics

doi 10.3389/fped.2021.743639

4,432 views
9 citations

Brief Research Report

Published on 11 Oct 2021

Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence

in Genetics of Common and Rare Diseases

Mercedes Serrano

Frontiers in Pediatrics

doi 10.3389/fped.2021.717864

4,076 views
7 citations

Original Research

Published on 05 Oct 2021

Analysis of Global and Local DNA Methylation Patterns in Blood Samples of Patients With Autism Spectrum Disorder

in Genetics of Common and Rare Diseases

María Victoria García-Ortiz
María José de la Torre-Aguilar
Teresa Morales-Ruiz
Antonio Gómez-Fernández
Katherine Flores-Rojas
Mercedes Gil-Campos
Pilar Martin-Borreguero
Rafael R. Ariza
Teresa Roldán-Arjona
Juan Luis Perez-Navero

Frontiers in Pediatrics

doi 10.3389/fped.2021.685310

5,029 views
17 citations

Original Research

Published on 04 Oct 2021

Single Nucleotide Polymorphisms Interactions of the Surfactant Protein Genes Associated With Respiratory Distress Syndrome Susceptibility in Preterm Infants

in Genetics of Common and Rare Diseases

Shaili Amatya
Meixia Ye
Lili Yang
Chintan K. Gandhi
Rongling Wu
Beth Nagourney
Joanna Floros

Frontiers in Pediatrics

doi 10.3389/fped.2021.682160

2,923 views
9 citations

Case Report

Published on 01 Oct 2021

Case Report: Progressive Cholestasis: Severe Phenotype of MEGDEL Syndrome With SATB2-Associated Syndrome

in Genetics of Common and Rare Diseases

Yajie Su
Hui Zhang
Huijun Wang
Bingbing Wu
Jiao Yang
Wenhao Zhou
Long Li

Frontiers in Pediatrics

doi 10.3389/fped.2021.713458

3,018 views
2 citations

Navigation group

Articles

Occurrence of Esophageal Atresia With Tracheoesophageal Fistula in Siblings From Three-Generation Family Affected by Variable Expressivity MYCN Mutation: A Case Report

A Case Report and Literature Review of a Novel Mutation in the MAGED2 Gene of a Patient With Severe Transient Polyhydramnios

Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients

Quantification of Differential Metabolites in Dried Blood Spots Using Second-Tier Testing for SCADD/IBDD Disorders Based on Large-Scale Newborn Screening in a Chinese Population

Analysis of miRNA Profiles and the Regulatory Network in Congenital Pulmonary Airway Malformations

Three Novel and One Potential Hotspot CPT1A Variants in Chinese Patients With Carnitine Palmitoyltransferase 1A Deficiency

Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review

Association of Stress, Glucocorticoid Receptor, and FK506 Binding Protein Gene Polymorphisms With Internalizing Disorders Among HIV-Infected Children and Adolescents From Kampala and Masaka Districts—Uganda

Prenatal Diagnosis of a Mosaic Paternal Uniparental Disomy for Chromosome 14: A Case Report of Kagami–Ogata Syndrome

Case Report: Identification of Polygenic Mutations by Exome Sequencing

Neonatal Metabolic Acidosis in the Neonatal Intensive Care Unit: What Are the Genetic Causes?

The Genetic Etiology Diagnosis of Fetal Growth Restriction Using Single-Nucleotide Polymorphism-Based Chromosomal Microarray Analysis

Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence

Analysis of Global and Local DNA Methylation Patterns in Blood Samples of Patients With Autism Spectrum Disorder

Single Nucleotide Polymorphisms Interactions of the Surfactant Protein Genes Associated With Respiratory Distress Syndrome Susceptibility in Preterm Infants

Case Report: Progressive Cholestasis: Severe Phenotype of MEGDEL Syndrome With SATB2-Associated Syndrome