Methods

Published on 04 Nov 2022

Establishing a database for sickle cell disease patient mapping and survival tracking: The sickle pan-african research consortium Nigeria example

in Genetics of Common and Rare Diseases

Obiageli Nnodu
Anazoeze Madu
Reuben Chianumba
Hezekiah Alkali Isa
Isaac Olanrewaju
Samuel Osagie
Nash Oyekanmi
Raphael Zozimus Sangeda
Annemie Stewart
Victoria Nembaware

Frontiers in Genetics

doi 10.3389/fgene.2022.1041462

3,016 views
1 citation

Original Research

Published on 03 Nov 2022

Physical, language, neurodevelopment and phenotype-genotype correlation of Chinese patients with Mowat-Wilson syndrome

in Genetics of Common and Rare Diseases

Lihua Wu
Jianhong Wang
Lei Wang
Qi Xu
Bo Zhou
Zhen Zhang
Qi Li
Hui Wang
Lu Han
Qian Jiang

Frontiers in Genetics

doi 10.3389/fgene.2022.1016677

1,230 views
1 citation

Original Research

Published on 03 Nov 2022

Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach

in Genetics of Common and Rare Diseases

Yusra Alyafee
Abeer Al Tuwaijri
Muhammad Umair
Mashael Alharbi
Shahad Haddad
Maryam Ballow
Latifah Alayyar
Qamre Alam
Saleh Althenayyan
Nadia Al Ghilan

Frontiers in Genetics

doi 10.3389/fgene.2022.1047474

2,771 views
23 citations

Case Report

Published on 01 Nov 2022

Case report: Five-year periodontal management of a patient with two novel mutation sites in ELANE-induced cyclic neutropenia

in Genetics of Common and Rare Diseases

Zhentao Lao
Jiarun Fu
Zhiying Wu
Lihong Zhu
Shiwen Wu
Yongheng Lin
Chaoming Hu
Dingyu Duan
Panpan Wang

Frontiers in Genetics

doi 10.3389/fgene.2022.972598

1,640 views

Original Research

Published on 01 Nov 2022

Comprehensive analysis of differentially expressed miRNAs in mice with kidney injury induced by chronic intermittent hypoxia

in Genetics of Common and Rare Diseases

Yunan Su
Chaowei Li
Weifeng Liu
Yibin Liu
Liangyi Li
Qingshi Chen

Frontiers in Genetics

doi 10.3389/fgene.2022.918728

1,419 views
2 citations

Case Report

Published on 31 Oct 2022

Case report: Prenatal diagnosis of Ectrodactyly–Ectodermal dysplasia–Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney

in Genetics of Common and Rare Diseases

He Biwei
Su Min
Wang Yanlin
Zhao Xinrong
Gao Li
Hua Renyi
Sun Jinling
Wang Shan
Wu Yi
Cheng Weiwei

Frontiers in Genetics

doi 10.3389/fgene.2022.1002089

1,709 views
1 citation

Review

Published on 31 Oct 2022

Metformin: Activation of 5′ AMP-activated protein kinase and its emerging potential beyond anti-hyperglycemic action

in Genetics of Common and Rare Diseases

Sanjay Goel
Ravinder Singh
Varinder Singh
Harmanjit Singh
Pratima Kumari
Hitesh Chopra
Rohit Sharma
Eugenie Nepovimova
Martin Valis
Kamil Kuca

Frontiers in Genetics

doi 10.3389/fgene.2022.1022739

3,250 views
6 citations

Case Report

Published on 31 Oct 2022

Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy

in Genetics of Common and Rare Diseases

Edwige Collaud
Luis Wittwer
Anna-Elisabeth Minder
Jean-Marie Annoni
Elisabeth I. Minder
Joelle N. Chabwine

Frontiers in Genetics

doi 10.3389/fgene.2022.993453

1,782 views
2 citations

Case Report

Published on 31 Oct 2022

Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature

in Genetics of Common and Rare Diseases

Chiara Simeoli
Cristina de Angelis
Alessandra Delli Veneri
Davide Menafra
Nicola Di Paola
Claudia Pivonello
Carolina Di Somma
Paolo Valerio
Daniela Melis
Carlo Alviggi

Frontiers in Genetics

doi 10.3389/fgene.2022.902844

1,913 views
2 citations

Case Report

Published on 26 Oct 2022

Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review

in Genetics of Common and Rare Diseases

Jun Wang
Xingqing Gou
Xiyi Wang
Jing Zhang
Nan Zhao
Xiaohong Wang

Frontiers in Genetics

doi 10.3389/fgene.2022.955732

1,796 views

Original Research

Published on 26 Oct 2022

Using dried blood spot on HemoTypeSC™, a new frontier for newborn screening for sickle cell disease in Nigeria

in Genetics of Common and Rare Diseases

Chinwe O. Okeke
Reuben I. Chianumba
Hezekiah Isa
Samuel Asala
Obiageli E. Nnodu

Frontiers in Genetics

doi 10.3389/fgene.2022.1013858

2,480 views
5 citations

Original Research

Published on 25 Oct 2022

A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family

in Genetics of Common and Rare Diseases

Yayun Qin
Hui Xu
Jingmin Yang
Yiming Wu
Hui Li
Bo Wang
Lijun Liu
Ding Ren
Runhong Xu
Manman Li

Frontiers in Genetics

doi 10.3389/fgene.2022.1046096

1,530 views

Case Report

Published on 25 Oct 2022

Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling

in Genetics of Common and Rare Diseases

Agnese Feresin
Tamara Stampalija
Stefania Cappellani
Rossana Bussani
Flavio Faletra
Flora Murru
Sheila Ulivi
Sarah Suergiu
Pasquale Savarese
Antonio Pedicini

Frontiers in Genetics

doi 10.3389/fgene.2022.982508

3,433 views

Original Research

Published on 25 Oct 2022

Clinical manifestations and genetic analysis of a newborn with Arboleda−Tham syndrome

in Genetics of Common and Rare Diseases

Feng Zeng
Yue Yang
Zhaohui Xu
Ziwen Wang
Huan Ke
Jianhong Zhang
Tongtong Dong
Wenming Yang
Jiuxiang Wang

Frontiers in Genetics

doi 10.3389/fgene.2022.990098

2,618 views
1 citation

Correction

Published on 21 Oct 2022

Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy

in Genetics of Common and Rare Diseases

Lei Zhang
Yanqiu Hu
Jingjing Lu
Peiwei Zhao
Xiankai Zhang
Li Tan
Jun Li
Cuiping Xiao
Linkong Zeng
Xuelian He

Frontiers in Genetics

doi 10.3389/fgene.2022.1036144

1,300 views

Case Report

Published on 20 Oct 2022

Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager

in Genetics of Common and Rare Diseases

Siqi Cheng
Weihong Chen
Mingmin Zhao
Xing Xing
Lei Zhao
Bowen Ren
Na Li

Frontiers in Genetics

doi 10.3389/fgene.2022.1012558

1,481 views

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Articles

Establishing a database for sickle cell disease patient mapping and survival tracking: The sickle pan-african research consortium Nigeria example

Physical, language, neurodevelopment and phenotype-genotype correlation of Chinese patients with Mowat-Wilson syndrome

Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach

Case report: Five-year periodontal management of a patient with two novel mutation sites in ELANE-induced cyclic neutropenia

Comprehensive analysis of differentially expressed miRNAs in mice with kidney injury induced by chronic intermittent hypoxia

Case report: Prenatal diagnosis of Ectrodactyly–Ectodermal dysplasia–Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney

Metformin: Activation of 5′ AMP-activated protein kinase and its emerging potential beyond anti-hyperglycemic action

Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy

Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature

Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review

Using dried blood spot on HemoTypeSC™, a new frontier for newborn screening for sickle cell disease in Nigeria

A feasibility study of noninvasive prenatal diagnosis in facioscapulohumeral muscular dystrophy type 1 in a Chinese family

Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling

Clinical manifestations and genetic analysis of a newborn with Arboleda−Tham syndrome

Corrigendum: Identification of the first congenital ichthyosis case caused by a homozygous deletion in the ALOX12B gene due to chromosome 17 mixed uniparental disomy

Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager