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Frontiers in Genetics

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Frontiers in Genetics, 13. Chronic granulomatous disease associated with Duchenne muscular dystrophy caused by Xp21.1 contiguous gene deletion syndrome: Case report and literature review

Bi S ; Dai L ; Jiang L ; Wang L ; Teng M ; Liu G ; Teng RJ | Switzerland | 13/01/2023

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Frontiers in Genetics, 13. Mesoangioblasts at 20: From the embryonic aorta to the patient bed

Cossu G ; Tonlorenzi R ; Brunelli S ; Sampaolesi M ; Messina G ; Azzoni E ; Benedetti S ; Biressi S ; Bonfanti C ; Bragg L ; Camps J ; Cappellari O ; Cassano M ; Ciceri F ; Coletta M ; Covarello D ; Crippa S ; Cusella-De Angelis MG ; De Angelis L ; Dellavalle A ; Diaz-Manera J ; Galli D ; Galli F ; Gargioli C ; Gerli MFM ; Giacomazzi G ; Galvez BG ; Hoshiya H ; Guttinger M ; Innocenzi A ; Minasi MG ; Perani L ; Previtali SC ; Quattrocelli M ; Ragazzi M ; Roostalu U ; Rossi G ; Scardigli R ; Sirabella D ; Tedesco FS ; Torrente Y ; Ugarte G | Switzerland | 04/01/2023

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Frontiers in Genetics, 14. Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients

Ma Y ; Duan X ; Liu X ; Fan D | 2023

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Frontiers in Genetics, 14. Technical feasibility of newborn screening for spinal muscular atrophy by next-generation DNA sequencing

Shum BOV ; Henner I ; Cairns A ; Pretorius C ; Wilgen U ; Barahona P ; Ungerer JPJ ; Bennett G | Switzerland | 01/2023

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Frontiers in Genetics, 13. Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China

Chang S ; Yang Y ; Xu F ; Ji W ; Zhan X ; Gao X ; Chen T ; Qiu W ; Zhang H ; Liang L ; Lu D ; Zhang K ; Gu X ; Han L | Switzerland | 18/12/2022

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Frontiers in Genetics, 13. Identification of DAPK1 as an autophagy-related biomarker for myotonic dystrophy type 1

Hu M ; Ge MR ; Li HX ; Zhang B ; Li G | Switzerland | 20/10/2022

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Frontiers in Genetics, 13. Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening

Goomber S ; Huggins E ; Rehder CW ; Cohen JL ; Bali DS ; Kishnani PS | 30/09/2022

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Frontiers in Genetics, 13. A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum

Kiely BT ; Koch RL ; Flores L ; Burner D ; Kaplan S ; Kishnani PS | 13/09/2022

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Frontiers in Genetics, 13. Population-based screening of newborns: Findings from the newborn screening expansion study (part two)

Chan K ; Chan KG ; Brower A ; Williams MS | 01/09/2022

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Frontiers in Genetics, 13. Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56-61 in DMD in an Asymptomatic Male and a DMD Patient

Bai Y ; Liu J ; Xu J ; Sun Y ; Li J ; Gao Y ; Liu L ; Jia C ; Kong X ; Wang L | 09/05/2022

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Frontiers in Genetics, 13. Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients

Fan Y ; Xu Z ; Li X ; Gao F ; Guo E ; Chang X ; Wei C ; Zhang C ; Yu Q ; Que C ; Xiao J ; Yan C ; Wang Z ; Yuan Y ; Xiong H | 16/03/2022

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Frontiers in Genetics, 13. Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?

Boivin M ; Charlet Berguerand N | 28/02/2022

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Frontiers in Genetics, 12. A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4)

Perez Siles G ; Ellis M ; Ashe A ; Grosz B ; Vucic S ; Kiernan MC ; Morris KA ; Reddel SW ; Kennerson ML | 19/01/2022

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Frontiers in Genetics, 13. Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant

Dabaj I ; Carlier RY ; Dieterich K ; Desguerre I ; Fauré J ; Romero NB ; Trang W ; Quijano-Roy S ; Germain DP | Switzerland | 2022

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Frontiers in Genetics, 12. Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing

Patel KM ; Bhatt AD ; Shah K ; Waghela BN ; Pandit RJ ; Sheth H ; Joshi CG ; Joshi MN | 03/12/2021

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Frontiers in Genetics, 12. Consensus Guidelines for Improving Quality of Assessment and Training for Neuromuscular Diseases

Duong T ; Krosschell KJ ; James MK ; Nelson L ; Alfano LN ; Eichinger K ; Mazzone E ; Rose K ; Lowes LP ; Mayhew A ; Florence J ; King W ; Senesac CR ; Eagle M | 10/11/2021

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Frontiers in Genetics, 12. A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy

Chausova PA ; Ryzhkova OP ; Rudenskaya GE ; Chernykh VB ; Shchagina OA ; Polyakov AV | 29/10/2021

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Frontiers in Genetics, 12. Remote Delivery of Motor Function Assessment and Training for Clinical Trials in Neuromuscular Disease: A Response to the COVID-19 Global Pandemic

James MK ; Rose K ; Alfano LN ; Reash NF ; Eagle M ; Lowes LP | 29/10/2021

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Frontiers in Genetics, 12. Social Media and Clinical Trials in Pediatric Disease: Musings From the Bench

Nelson L ; Iannaccone ST | 04/10/2021

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Frontiers in Genetics, 12. Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycanopathy

Chen XY ; Song DY ; Jiang L ; Tan DD ; Liu YD ; Liu JY ; Chang XZ ; Xing GG ; Toda T ; Xiong H | 03/08/2021

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Frontiers in Genetics, 12. Myogenic Cell Transplantation in Genetic and Acquired Diseases of Skeletal Muscle

Boyer O ; Butler Browne G ; Chinoy H ; Cossu G ; Galli F ; Lilleker JB ; Magli A ; Mouly V ; Perlingeiro RCR ; Previtali SC ; Sampaolesi M ; Smeets H ; Schoewel-Wolf V ; Spuler S ; Torrente Y ; Van Tienen F | 02/08/2021

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Frontiers in Genetics, 12. Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction

Jin P ; Gao X ; Wang M ; Qian Y ; Yang J ; Yang Y ; Xu Y ; Xu Y ; Dong M | 01/07/2021

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Frontiers in Genetics, 12. A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles

Botta A ; Visconti VV ; Fontana L ; Bisceglia P ; Bengala M ; Massa R ; Bagni I ; Cardani R ; Sangiuolo F ; Meola G ; Antonini G ; Petrucci A ; Pegoraro E ; D'Apice MR ; Novelli G | 21/06/2021

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Frontiers in Genetics, 12. Identification of a Novel Variant in MT-CO3 Causing MELAS

Xu M ; Kopajtich R ; Elstner M ; Wang Z ; Liu Z ; Wang J ; Prokisch H ; Fang F | 12/05/2021

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Frontiers in Genetics, 12. Deciphering Myostatin's Regulatory, Metabolic, and Developmental Influence in Skeletal Diseases

Omosule CL ; Phillips CL | 29/03/2021

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Détail de la revue

Frontiers in Genetics

Documents disponibles dans cette revue (35)

Frontiers in Genetics, 13. Chronic granulomatous disease associated with Duchenne muscular dystrophy caused by Xp21.1 contiguous gene deletion syndrome: Case report and literature review

Frontiers in Genetics, 13. Mesoangioblasts at 20: From the embryonic aorta to the patient bed

Frontiers in Genetics, 14. Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients

Frontiers in Genetics, 14. Technical feasibility of newborn screening for spinal muscular atrophy by next-generation DNA sequencing

Frontiers in Genetics, 13. Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China

Frontiers in Genetics, 13. Identification of DAPK1 as an autophagy-related biomarker for myotonic dystrophy type 1

Frontiers in Genetics, 13. Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening

Frontiers in Genetics, 13. A novel approach to characterize phenotypic variation in GSD IV: Reconceptualizing the clinical continuum

Frontiers in Genetics, 13. Population-based screening of newborns: Findings from the newborn screening expansion study (part two)

Frontiers in Genetics, 13. Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56-61 in DMD in an Asymptomatic Male and a DMD Patient

Frontiers in Genetics, 13. Novel SEPN1 Mutations in Exon 1 Are Common in Rigid Spine With Muscular Dystrophy Type 1 in Chinese Patients

Frontiers in Genetics, 13. Trinucleotide CGG Repeat Diseases: An Expanding Field of Polyglycine Proteins?

Frontiers in Genetics, 12. A Compound Heterozygous Mutation in Calpain 1 Identifies a New Genetic Cause for Spinal Muscular Atrophy Type 4 (SMA4)

Frontiers in Genetics, 13. Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant

Frontiers in Genetics, 12. Molecular Diagnosis of Muscular Dystrophy Patients in Western Indian Population: A Comprehensive Mutation Analysis Using Amplicon Sequencing

Frontiers in Genetics, 12. Consensus Guidelines for Improving Quality of Assessment and Training for Neuromuscular Diseases

Frontiers in Genetics, 12. A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy

Frontiers in Genetics, 12. Remote Delivery of Motor Function Assessment and Training for Clinical Trials in Neuromuscular Disease: A Response to the COVID-19 Global Pandemic

Frontiers in Genetics, 12. Social Media and Clinical Trials in Pediatric Disease: Musings From the Bench

Frontiers in Genetics, 12. Phenotype and Genotype Study of Chinese POMT2-Related α-Dystroglycanopathy

Frontiers in Genetics, 12. Myogenic Cell Transplantation in Genetic and Acquired Diseases of Skeletal Muscle

Frontiers in Genetics, 12. Case Report: Identification of Maternal Low-Level Mosaicism in the Dystrophin Gene by Droplet Digital Polymerase Chain Reaction

Frontiers in Genetics, 12. A 14-Year Italian Experience in DM2 Genetic Testing: Frequency and Distribution of Normal and Premutated CNBP Alleles

Frontiers in Genetics, 12. Identification of a Novel Variant in MT-CO3 Causing MELAS

Frontiers in Genetics, 12. Deciphering Myostatin's Regulatory, Metabolic, and Developmental Influence in Skeletal Diseases