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Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta

American journal of human genetics, 2016-10, Vol.99 (4), p.984-990

2016

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Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies

Molecular genetics & genomic medicine, 2023-06, Vol.11 (6), p.e2164-n/a

2023

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A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing

Molecular genetics & genomic medicine, 2015-11, Vol.3 (6), p.543-549

2015

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Amelogenesis Imperfecta; Genes, Proteins, and Pathways

Frontiers in physiology, 2017-06, Vol.8, p.435-435

2017

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A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta

Human molecular genetics, 2014-04, Vol.23 (8), p.2189-2197

2014

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Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

American journal of human genetics, 2020-11, Vol.107 (5), p.802-814

2020

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Primary Cilia, Ciliogenesis and the Actin Cytoskeleton: A Little Less Resorption, A Little More Actin Please

Frontiers in cell and developmental biology, 2020-12, Vol.8, p.622822

2020

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Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta

Human molecular genetics, 2014-10, Vol.23 (20), p.5317-5324

2014

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Reply

Ophthalmology (Rochester, Minn.), 2023-03, Vol.130 (3), p.e9-e10

2023

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Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta

Human molecular genetics, 2016-08, Vol.25 (16), p.3578-3587

2016

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Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

American journal of human genetics, 2015-10, Vol.97 (4), p.535-545

2015

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A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta

Human molecular genetics, 2020-06, Vol.29 (9), p.1417-1425

2020

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Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

Journal of medical genetics, 2023-11, Vol.61 (4), p.347

2023

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Spectrum of PEX1 and PEX6 variants in Heimler syndrome

European journal of human genetics : EJHG, 2016-11, Vol.24 (11), p.1565-1571

2016

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New missense variants in RELT causing hypomineralised amelogenesis imperfecta

Clinical genetics, 2020-05, Vol.97 (5), p.688-695

2020

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Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene

Ophthalmology (Rochester, Minn.), 2023-01, Vol.130 (1), p.68-76

2023

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Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20

Human mutation, 2021-05, Vol.42 (5), p.567-576

2021

Volltextzugriff (PDF)

Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress

Human molecular genetics, 2017-05, Vol.26 (10), p.1863-1876

2017

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A tissue-specific promoter derived from a SINE retrotransposon drives biallelic expression of PLAGL1 in human lymphocytes

PloS one, 2017-09, Vol.12 (9), p.e0185678-e0185678

2017

Volltextzugriff (PDF)

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

European journal of human genetics : EJHG, 2017-08, Vol.25 (8), p.1015-1019

2017

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Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations

BMC medical genetics, 2015-02, Vol.16 (1), p.8-8, Article 8

2015

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Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome

Oral diseases, 2019-01, Vol.25 (1), p.182-191

2019

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New variants and in silico analyses in GRK1 associated Oguchi disease

Human mutation, 2021-02, Vol.42 (2), p.164-176

2021

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A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities

Frontiers in physiology, 2017-05, Vol.8, p.333-333

2017

Volltextzugriff (PDF)

A high-throughput platform for detailed lipidomic analysis of a range of mouse and human tissues

Analytical and bioanalytical chemistry, 2020-05, Vol.412 (12), p.2851-2862

2020

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Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta

Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon‐based short‐read sequencing strategies

A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing

Amelogenesis Imperfecta; Genes, Proteins, and Pathways

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

Primary Cilia, Ciliogenesis and the Actin Cytoskeleton: A Little Less Resorption, A Little More Actin Please

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta

Reply

Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

Spectrum of PEX1 and PEX6 variants in Heimler syndrome

New missense variants in RELT causing hypomineralised amelogenesis imperfecta

Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene

Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20

Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress

A tissue-specific promoter derived from a SINE retrotransposon drives biallelic expression of PLAGL1 in human lymphocytes

Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations

Novel DLX3 variants in amelogenesis imperfecta with attenuated tricho‐dento‐osseous syndrome

New variants and in silico analyses in GRK1 associated Oguchi disease

A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities

A high-throughput platform for detailed lipidomic analysis of a range of mouse and human tissues

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