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

2,439 views
3 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

2,222 views
2 citations

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

5,381 views
15 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

2,923 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

2,376 views
1 citation

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

3,227 views
8 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

1,892 views
1 citation

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

5,791 views
1 citation

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

3,680 views
3 citations

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

1,453 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

2,046 views

Systematic Review

Published on 19 Oct 2022

The causal association between genetically regulated 25OHD and chronic obstructive pulmonary disease: A meta-analysis and Mendelian randomization study

in Genetics of Common and Rare Diseases

Min Yang
Bo Pang
Qiong Wang
Zhixin Zhang
Wenquan Niu

Frontiers in Genetics

doi 10.3389/fgene.2022.932764

3,326 views

Case Report

Published on 19 Oct 2022

Case report: Prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in the JAM3 gene

in Genetics of Common and Rare Diseases

Min Xu
Pengzhen Jin
Yingzhi Huang
Yeqing Qian
Miaochun Lin
Juan Zuo
Jin Zhu
Zhaohui Li
Minyue Dong

Frontiers in Genetics

doi 10.3389/fgene.2022.1036231

2,773 views
2 citations

Case Report

Published on 18 Oct 2022

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness

in Genetics of Common and Rare Diseases

Laura Alías
Miguel López de Heredia
Sabina Luna
Núria Clivillé
Lídia González-Quereda
Pía Gallano
Júlia de Juan
Albert Pujol
Santiago Diez
Susana Boronat

Frontiers in Genetics

doi 10.3389/fgene.2022.998898

2,476 views
2 citations

Case Report

Published on 17 Oct 2022

Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon

in Genetics of Common and Rare Diseases

Roberta Salinas-Marín
Yoshiko Murakami
Carlos Alberto González-Domínguez
Mario Ernesto Cruz-Muñoz
Héctor Manuel Mora-Montes
Eva Morava
Taroh Kinoshita
Susana Monroy-Santoyo
Iván Martínez-Duncker

Frontiers in Genetics

doi 10.3389/fgene.2022.971473

2,190 views
1 citation

Original Research

Published on 17 Oct 2022

Genome-wide association study for systemic lupus erythematosus in an egyptian population

in Genetics of Common and Rare Diseases

Ashraf A. Elghzaly
Celi Sun
Loren L. Looger
Misa Hirose
Mohamed Salama
Noha M. Khalil
Mervat Essam Behiry
Mohamed Tharwat Hegazy
Mohamed Ahmed Hussein
Mohamad Nabil Salem

Frontiers in Genetics

doi 10.3389/fgene.2022.948505

5,786 views
8 citations

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Articles

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

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

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

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

The causal association between genetically regulated 25OHD and chronic obstructive pulmonary disease: A meta-analysis and Mendelian randomization study

Case report: Prenatal diagnosis of fetal intracranial hemorrhage due to compound mutations in the JAM3 gene

Case report: De novo pathogenic variant in WFS1 causes Wolfram-like syndrome debuting with congenital bilateral deafness

Case report: Functional characterization of a de novo c.145G>A p.Val49Met pathogenic variant in a case of PIGA-CDG with megacolon

Genome-wide association study for systemic lupus erythematosus in an egyptian population