Case Report

Published on 05 Feb 2019

FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review

in Genetics of Common and Rare Diseases

Rami A. Ballout
Chadi Al Alam
Penelope E. Bonnen
Martina Huemer
Ayman W. El-Hattab
Rolla Shbarou

Frontiers in Genetics

doi 10.3389/fgene.2019.00039

6,588 views
23 citations

Original Research

Published on 01 Feb 2019

Survey of the Ciliary Motility Machinery of Drosophila Sperm and Ciliated Mechanosensory Neurons Reveals Unexpected Cell-Type Specific Variations: A Model for Motile Ciliopathies

in Genetics of Common and Rare Diseases

Petra zur Lage
Fay G. Newton
Andrew P. Jarman

Frontiers in Genetics

doi 10.3389/fgene.2019.00024

7,476 views
55 citations

Case Report

Published on 30 Jan 2019

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

in Genetics of Common and Rare Diseases

Elise Schaefer
Clarisse Delvallée
Laura Mary
Corinne Stoetzel
Véronique Geoffroy
Caroline Marks-Delesalle
Muriel Holder-Espinasse
Jamal Ghoumid
Hélène Dollfus
Jean Muller

Frontiers in Genetics

doi 10.3389/fgene.2019.00021

4,492 views
31 citations

Case Report

Published on 28 Jan 2019

Identification of a Novel COL4A4 Variant in Compound-Heterozygous State in a Patient With Alport Syndrome and Histological Findings Similar to Focal Segmental Glomerulosclerosis (FSGS)

in Genetics of Common and Rare Diseases

Feng Zhu
Wencheng Li
Zhenqiong Li
Hongyan Zhu
Jing Xiong

Frontiers in Genetics

doi 10.3389/fgene.2018.00748

3,833 views
7 citations

Review

Published on 25 Jan 2019

Mitochondrial Heterogeneity

in Genetics of Common and Rare Diseases

Juvid Aryaman
Iain G. Johnston
Nick S. Jones

Frontiers in Genetics

doi 10.3389/fgene.2018.00718

18,098 views
95 citations

Case Report

Published on 23 Jan 2019

SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report

in Genetics of Common and Rare Diseases

Muhammad Younus
Farooq Ahmad
Erum Malik
Muhammad Bilal
Mehran Kausar
Safdar Abbas
Shabnam Shaheen
Mohib Ullah Kakar
Majid Alfadhel
Muhammad Umair

Frontiers in Genetics

doi 10.3389/fgene.2018.00727

4,468 views
19 citations

Original Research

Published on 23 Jan 2019

Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations

in Genetics of Common and Rare Diseases

Wei Zhou
Huizhong Li
Chuanxia Wang
Xiuli Wang
Maosheng Gu

Frontiers in Genetics

doi 10.3389/fgene.2018.00726

5,767 views
39 citations

Review

Published on 22 Jan 2019

RNA Dysregulation in Amyotrophic Lateral Sclerosis

in Genetics of Common and Rare Diseases

Zoe Butti
Shunmoogum A. Patten

Frontiers in Genetics

doi 10.3389/fgene.2018.00712

24,736 views
146 citations

Original Research

Published on 21 Jan 2019

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

in Genetics of Common and Rare Diseases

Stefania Bigoni
Marcella Neri
Chiara Scotton
Roberto Farina
Patrizia Sabatelli
Chongyi Jiang
Jianguo Zhang
Maria Sofia Falzarano
Rachele Rossi
Davide Ognibene

Frontiers in Genetics

doi 10.3389/fgene.2018.00723

3,493 views
4 citations

Mini Review

Published on 10 Jan 2019

Divide Precisely and Proliferate Safely: Lessons From Budding Yeast

in Genetics of Common and Rare Diseases

Roberta Fraschini

Frontiers in Genetics

doi 10.3389/fgene.2018.00738

4,969 views
5 citations

Original Research

Published on 07 Jan 2019

Time- and Ventricular-Specific Expression Profiles of Genes Encoding Z-Disk Proteins in Pressure Overload Model of Left Ventricular Hypertrophy

in Genetics of Common and Rare Diseases

Anastasia Knyazeva
Alexander Krutikov
Alexey Golovkin
Alexander Mishanin
Georgii Pavlov
Natalia Smolina
Anastasia Hushkina
Thomas Sejersen
Gunnar Sjoberg
Mikhail Galagudza

Frontiers in Genetics

doi 10.3389/fgene.2018.00684

3,169 views
5 citations

Case Report

Published on 07 Jan 2019

Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma

in Genetics of Common and Rare Diseases

Yuwei Li
Lili Tang
Yang Han
Liyun Zheng
Qi Zhen
Sen Yang
Min Gao

Frontiers in Genetics

doi 10.3389/fgene.2018.00645

5,197 views
4 citations

Original Research

Published on 04 Jan 2019

Impact of Ancestral Differences and Reassessment of the Classification of Previously Reported Pathogenic Variants in Patients With Brugada Syndrome in the Genomic Era: A SADS-TW BrS Registry

in Genetics of Common and Rare Diseases

Ching-Yu Julius Chen
Tzu-Pin Lu
Lian-Yu Lin
Yen-Bin Liu
Li-Ting Ho
Hui-Chun Huang
Ling-Ping Lai
Juey-Jen Hwang
Shih-Fan Sherri Yeh
Cho-Kai Wu

Frontiers in Genetics

doi 10.3389/fgene.2018.00680

8,062 views
11 citations

Original Research

Published on 21 Dec 2018

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations

in Genetics of Common and Rare Diseases

Anna Morgan
Stefania Lenarduzzi
Stefania Cappellani
Vanna Pecile
Marcello Morgutti
Eva Orzan
Sara Ghiselli
Umberto Ambrosetti
Marco Brumat
Poornima Gajendrarao

Frontiers in Genetics

doi 10.3389/fgene.2018.00681

18,212 views
26 citations

Review

Published on 21 Dec 2018

Centromere and Pericentromere Transcription: Roles and Regulation … in Sickness and in Health

in Genetics of Common and Rare Diseases

Ksenia Smurova
Peter De Wulf

Frontiers in Genetics

doi 10.3389/fgene.2018.00674

27,345 views
77 citations

Review

Published on 21 Dec 2018

Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far

in Genetics of Common and Rare Diseases

Dario Pacitti
Michelle Levene
Caterina Garone
Niranjanan Nirmalananthan
Bridget E. Bax

Frontiers in Genetics

doi 10.3389/fgene.2018.00669

17,599 views
49 citations

Navigation group

Articles

FBXL4-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review

Survey of the Ciliary Motility Machinery of Drosophila Sperm and Ciliated Mechanosensory Neurons Reveals Unexpected Cell-Type Specific Variations: A Model for Motile Ciliopathies

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

Identification of a Novel COL4A4 Variant in Compound-Heterozygous State in a Patient With Alport Syndrome and Histological Findings Similar to Focal Segmental Glomerulosclerosis (FSGS)

Mitochondrial Heterogeneity

SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report

Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations

RNA Dysregulation in Amyotrophic Lateral Sclerosis

Homozygous Recessive Versican Missense Variation Is Associated With Early Teeth Loss in a Pakistani Family

Divide Precisely and Proliferate Safely: Lessons From Budding Yeast

Time- and Ventricular-Specific Expression Profiles of Genes Encoding Z-Disk Proteins in Pressure Overload Model of Left Ventricular Hypertrophy

Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma

Impact of Ancestral Differences and Reassessment of the Classification of Previously Reported Pathogenic Variants in Patients With Brugada Syndrome in the Genomic Era: A SADS-TW BrS Registry

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations

Centromere and Pericentromere Transcription: Roles and Regulation … in Sickness and in Health

Mitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far