Original Research

Published on 08 Sep 2022

Identification of molecular patterns and diagnostic biomarkers in juvenile idiopathic arthritis based on the gene expression of m6A regulators

in Genetics of Common and Rare Diseases

Shibo Zhang
Jing Qin
Yuechao Zhao
Jian Wang
Zhiliang Tian

Frontiers in Pediatrics

doi 10.3389/fped.2022.930119

1,946 views
1 citation

Original Research

Published on 08 Sep 2022

Differences in severity of cardiovascular anomalies in children with Noonan syndrome based on the causative gene

in Genetics of Common and Rare Diseases

Nagham Shehade-Awwad
Yonatan Yeshayahu
Orit Pinhas-Hamiel
Uriel Katz

Frontiers in Pediatrics

doi 10.3389/fped.2022.946071

1,284 views
3 citations

Mini Review

Published on 06 Sep 2022

Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology

in Genetics of Common and Rare Diseases

Kang Nien How
Hazel Jing Yi Leong
Zacharias Aloysius Dwi Pramono
Kin Fon Leong
Zee Wei Lai
Wei Hsum Yap

Frontiers in Pediatrics

doi 10.3389/fped.2022.900606

5,937 views
7 citations

Original Research

Published on 06 Sep 2022

Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel–Giedion syndrome

in Genetics of Common and Rare Diseases

Hansong Yang
Zhiyong Liu
Dongmei Chen
Weiru Lin
Lin Wang
Tianfeng Chen
Ruiquan Wang
Xialin Yan

Frontiers in Pediatrics

doi 10.3389/fped.2022.920741

2,120 views
5 citations

Original Research

Published on 31 Aug 2022

ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge

in Genetics of Common and Rare Diseases

Blandine Desse
Antoine Tran
Mathilde Butori
Sarah Marchal
Michael Afanetti
Sébastien Barthélemy
Etienne Bérard
Elisabeth Baechler
Stéphane Debelleix
Marie-Emilie Lampin

Frontiers in Pediatrics

doi 10.3389/fped.2022.910099

4,249 views
4 citations

Case Report

Published on 30 Aug 2022

Case report: First case report of an Emirati child with a novel gene variant causing aromatic L-amino acid decarboxylase deficiency

in Genetics of Common and Rare Diseases

Mohamed O. E. Babiker
Manju A. Kurian
Jehan Suleiman

Frontiers in Pediatrics

doi 10.3389/fped.2022.964201

2,342 views
2 citations

Case Report

Published on 26 Aug 2022

Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54

in Genetics of Common and Rare Diseases

Xin Xu
Fen Lu
Senjie Du
Xiaoke Zhao
Hongying Li
Li Zhang
Jian Tang

Frontiers in Pediatrics

doi 10.3389/fped.2022.997274

1,560 views
2 citations

Case Report

Published on 25 Aug 2022

Case report and literature review: A de novo pathogenic missense variant in ACTN4 gene caused rapid progression to end-stage renal disease

in Genetics of Common and Rare Diseases

Zhechi He
Ke Wu
Wenqing Xie
Jianghua Chen

Frontiers in Pediatrics

doi 10.3389/fped.2022.930258

1,989 views

Original Research

Published on 23 Aug 2022

Phelan–McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses

in Genetics of Common and Rare Diseases

Liang Chen
Zhi-ye Yao
Xiangtao Wu
Shao-ru He
Yu-mei Liu
Xue-yan Wang
De-zhi Cao
Xing-kun Yang
Jian-bo Zhao
Zi Ren

Frontiers in Pediatrics

doi 10.3389/fped.2022.888001

1,883 views
1 citation

Case Report

Published on 22 Aug 2022

Case report: A Chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome

in Genetics of Common and Rare Diseases

Lihong Jiang
Xin Chen
Jiaqi Zheng
Meilin Wang
Hui Bo
Geli Liu

Frontiers in Pediatrics

doi 10.3389/fped.2022.933108

1,897 views
1 citation

Case Report

Published on 22 Aug 2022

Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C

in Genetics of Common and Rare Diseases

Suli Zhang
Shuangzhu Lin
Zhenxian Liu
Wanqi Wang
Jiayi Li
Qiandui Chen
Li Yang
Cui Wang
Qiming Pang

Frontiers in Pediatrics

doi 10.3389/fped.2022.898693

1,423 views

Case Report

Published on 16 Aug 2022

Treatment of latent tuberculosis in a child with mucopolysaccharidosis type I receiving enzyme replacement therapy: A case report

in Genetics of Common and Rare Diseases

Lauma Vasilevska
Madara Auzenbaha
Ieva Grinfelde
Anita Skangale

Frontiers in Pediatrics

doi 10.3389/fped.2022.973193

1,335 views

Original Research

Published on 10 Aug 2022

Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome

in Genetics of Common and Rare Diseases

Meiying Cai
Min Lin
Nan Guo
Meimei Fu
Liangpu Xu
Na Lin
Hailong Huang

Frontiers in Pediatrics

doi 10.3389/fped.2022.910497

1,782 views
4 citations

Systematic Review

Published on 08 Aug 2022

Risk factors for severe COVID-19 in people with cystic fibrosis: A systematic review

in Genetics of Common and Rare Diseases

Vito Terlizzi
Marco Antonio Motisi
Roberta Pellegrino
Rita Padoan
Elena Chiappini

Frontiers in Pediatrics

doi 10.3389/fped.2022.958658

3,496 views
12 citations

Original Research

Published on 04 Aug 2022

Whole Exome Sequencing in a Population With Severe Congenital Anomalies of Kidney and Urinary Tract

in Genetics of Common and Rare Diseases

Meredith Harris
Meredith P. Schuh
David McKinney
Kenneth Kaufman
Elif Erkan

Frontiers in Pediatrics

doi 10.3389/fped.2022.898773

3,167 views
3 citations

Original Research

Published on 04 Aug 2022

Cell-free fetal DNA as a non-invasive method using pyrosequencing in detecting beta-globin gene mutation: A pilot study from area with limited facilities in Indonesia

in Genetics of Common and Rare Diseases

Ani Melani Maskoen
Nurul Setia Rahayu
Bremmy Laksono
Azzania Fibriani
Willyanti Soewondo
Johanes C. Mose
Edhyana Sahiratmadja
Ramdan Panigoro

Frontiers in Pediatrics

doi 10.3389/fped.2022.902879

2,007 views
1 citation

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Articles

Identification of molecular patterns and diagnostic biomarkers in juvenile idiopathic arthritis based on the gene expression of m6A regulators

Differences in severity of cardiovascular anomalies in children with Noonan syndrome based on the causative gene

Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology

Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel–Giedion syndrome

ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge

Case report: First case report of an Emirati child with a novel gene variant causing aromatic L-amino acid decarboxylase deficiency

Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54

Case report and literature review: A de novo pathogenic missense variant in ACTN4 gene caused rapid progression to end-stage renal disease

Phelan–McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses

Case report: A Chinese boy with facial dysmorphism, immunodeficiency, livedo, and short stature syndrome

Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C

Treatment of latent tuberculosis in a child with mucopolysaccharidosis type I receiving enzyme replacement therapy: A case report

Prenatal ultrasound phenotypic and genetic etiology of the 17q12 microduplication syndrome

Risk factors for severe COVID-19 in people with cystic fibrosis: A systematic review

Whole Exome Sequencing in a Population With Severe Congenital Anomalies of Kidney and Urinary Tract

Cell-free fetal DNA as a non-invasive method using pyrosequencing in detecting beta-globin gene mutation: A pilot study from area with limited facilities in Indonesia