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Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications
Histone modifications in Duchenne muscular dystrophy: pathogenesis insights and therapeutic implications
Duchenne muscular dystrophy (DMD) is a commonly encountered genetic ailment marked by loss-of-function mutations in the Dy...
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis
Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis
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Protein-truncating and rare missense variants in ATM and CHEK2 and associations with cancer in UK Biobank whole-exome sequence data
Protein-truncating and rare missense variants in ATM and CHEK2 and associations with cancer in UK Biobank whole-exome sequence data
IntroductionGene panel testing for cancer susceptibility is now an important part of clinical practice. To provide reliabl...
Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer
Novel germline TP53 variant (p.(Phe109Ile)) confers high risk of cancer
Referenced paragraphWe present five children all carrying a germline c.325T>A, p.(Phe109Ile) variant in the TP53 gene. ...
A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease
A novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease
Introductionvon Hippel-Lindau (VHL) is an autosomal-dominant hereditary tumour susceptibility disorder associated with pat...
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome
Splice site variants in the canonical donor site of MED13L exon 7 lead to intron retention in patients with MED13L syndrome
Pathogenic variants in the MED13L gene are associated with the autosomal dominant MED13L syndrome, which is characterised ...
Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults
Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults
CS-associated mutationsIn total, 37 distinct families were enrolled with 44 affected males. 31 unique mutations were ident...
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China
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Biallelic variants in {alpha}-tubulin isotypes cause female infertility characterised as recurrent preimplantation embryo arrest
Biallelic variants in {alpha}-tubulin isotypes cause female infertility characterised as recurrent preimplantation embryo arrest
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Male-female phenotype correlation and dissociation related to mutations in the ARX gene
Male-female phenotype correlation and dissociation related to mutations in the ARX gene
I read with interest the case series and review article ‘Further characterisation of ARX-related disorders in females due ...
Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes
Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes
SATB2-associated syndrome (SAS) is caused by pathogenic variants in SATB2, which encodes an evolutionarily conserved tran...
Genetics of prostate cancer: a review of latest evidence
Genetics of prostate cancer: a review of latest evidence
The UK Cancer Genomic National Test Directory outlines eligibility for genomic testing funded by the NHS. The directory wa...
Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs)
Shared germline genomic variants in two patients with double primary gastrointestinal stromal tumours (GISTs)
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Germline testing for breast cancer patients in England: illogical to prioritise grade 1 breast cancer aged 30-39 over grade 3 aged 40-49 years?
Germline testing for breast cancer patients in England: illogical to prioritise grade 1 breast cancer aged 30-39 over grade 3 aged 40-49 years?
Germline genetic testing for pathogenic variants (PVs) in breast cancer (BC) genes is currently triggered by algorithms th...
Is renal cell carcinoma associated with MITF c.952G>A (p.E318K)?
Is renal cell carcinoma associated with MITF c.952G>A (p.E318K)?
MITF c.952G>A (p.E318K) (the variant nomenclature is reported by MANE Plus Clinical as MITF NM_000248.4:c.952G>A (p...
Novel truncating germline variant reinforces TINF2 as a susceptibility gene for familial non-medullary thyroid cancer
Novel truncating germline variant reinforces TINF2 as a susceptibility gene for familial non-medullary thyroid cancer
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Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome
Long-read sequencing identifies an SVA_D retrotransposon insertion deep within the intron of ATP7A as a novel cause of occipital horn syndrome
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Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex
Development and internal validation of a clinical risk score to predict incident renal and pulmonary tumours in people with tuberous sclerosis complex
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Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis
Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis
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Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway
Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway
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From onset to blindness: a comprehensive analysis of RPGR-associated X-linked retinopathy in a large cohort in China
From onset to blindness: a comprehensive analysis of RPGR-associated X-linked retinopathy in a large cohort in China
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Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement
WHAT IS ALREADY KNOWN ON THIS TOPICPrevious studies have shown that pathogenic variants in genes encoding triad proteins l...
Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A-related disorder
Double gonosomal mosaicism as an unusual hereditary mechanism in familial GRIN2A-related disorder
We aim to describe double gonosomal mosaicism in the GRIN2A gene in a mother who passed on two different pathogenic varian...
Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis
Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis
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Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene
Encephalocraniocutaneous lipomatosis phenotype associated with mosaic biallelic pathogenic variants in the NF1 gene
Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic congenital condition characterised by ocular, cutaneous and cent...
JMG at 60
JMG at 60
Six decades have passed since the publication of the first issue of the Journal of Medical Genetics in September 1964. Thi...
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective
IntroductionTonne-Kalscheuer syndrome (TOKAS, MIM#300978) is an X-linked recessive multiple congenital anomaly disorder wi...
Complex structural variation and nonsense variant in trans cause VPS50-related disorder
Complex structural variation and nonsense variant in trans cause VPS50-related disorder
Homozygous VPS50 variants have been previously described in two unrelated patients with a neurodevelopmental disorder with...
Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China
Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China
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Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation
Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation
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