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Further characterisation of ARX-related disorders in females due to inherited or de novo variants
Further characterisation of ARX-related disorders in females due to inherited or de novo variants
The Aristaless-related homeobox (ARX) gene is located on the X chromosome and encodes a transcription factor that is essen...
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
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SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice
SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice
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Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction
Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction
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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations
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Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer
Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer
IntroductionBreast cancer (BC) is the most common type of cancer in women and affect approximately one in eight.1 2 Screen...
Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC)
Co-design of patient information leaflets for germline predisposition to cancer: recommendations for clinical practice from the UK Cancer Genetics Group (UKCGG), Cancer Research UK (CRUK) funded CanGene-CanVar Programme and the Association of Genetic Nurse Counsellors (AGNC)
Pre-meeting surveysPre-meeting surveys to scope the origin and current use of PIL and other resources received low respons...
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency
Neurofibromatosis type 1 mosaicism in patients with constitutional mismatch repair deficiency
Case presentation (patient 1)We describe the case of a girl who presented numerous CALMs, bilateral axillar freckling and ...
Recurrent BRCA2 exon 3 deletion in Assyrian families
Recurrent BRCA2 exon 3 deletion in Assyrian families
We identified six patients from five families with a recurrent mutation: NM_000059.3 (BRCA2) exon 3 deletion. All families...
TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy
TBX20 loss-of-function variants in families with left ventricular non-compaction cardiomyopathy
TBX20 encodes a cardiac transcription factor that is associated with atrial septal defects. Recent studies implicate loss...
Evidence of a genetic background predisposing to complex regional pain syndrome type 1
Evidence of a genetic background predisposing to complex regional pain syndrome type 1
MethodsCase cohortsThe CRPS-UK Registry is a well-characterised cohort of patients with CRPS meeting the Budapest clinical...
Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative individuals recruited to the 100 000 Genomes Project
Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative individuals recruited to the 100 000 Genomes Project
Hereditary haemorrhagic telangiectasia (HHT) is diagnosed clinically by the Curaçao Criteria of spontaneous recurrent nose...
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study
Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study
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Association between genetic polymorphisms and risk of adolescent idiopathic scoliosis in case-control studies: a systematic review
Association between genetic polymorphisms and risk of adolescent idiopathic scoliosis in case-control studies: a systematic review
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Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases
IntroductionAlthough protein-coding regions represent only 1–2% of the human genome, they harbour an estimated 85% of anno...
Exploring the association between congenital vertebral malformations and neural tube defects
Exploring the association between congenital vertebral malformations and neural tube defects
Congenital vertebral malformations (CVMs) and neural tube defects (NTDs) are common birth defects affecting the spine and ...
The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples
The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples
WHAT IS ALREADY KNOWN ON THIS TOPICThe contribution of the proximal 16p11.2 deletion (BP4–BP5) to autism spectrum disorder...
Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants
Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants
AbstractBackground Primary lymphoedema (PL) is a chronic, debilitating disease caused by developmental and functional defe...
Genetic features and kidney morphological changes in women with X-linked Alport syndrome
Genetic features and kidney morphological changes in women with X-linked Alport syndrome
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Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel
IntroductionBreast cancer (BC) is the most common cancer diagnosed among women in Western countries including Israel, wher...
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study
WHAT IS ALREADY KNOWN ON THIS TOPICPrimary carnitine deficiency (PCD) is an inborn error of metabolism that may cause seve...
Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication
Adaptive nanopore sequencing to determine pathogenicity of BRCA1 exonic duplication
IntroductionBreast cancer susceptibility genes 1 and 2 (BRCA1 and BRCA2) are tumour suppressor genes, exerting their funct...
MSH3: a confirmed predisposing gene for adenomatous polyposis
MSH3: a confirmed predisposing gene for adenomatous polyposis
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CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources
CHEK2 is not a Li-Fraumeni syndrome gene: time to update public resources
The gene-disease relationship for CHEK2 remains listed as ‘Li-Fraumeni syndrome 2’ in public resources such as OMIM and MO...
Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt-Hogg-Dube syndrome
Clinical phenotype and genetic function analysis of a rare family with hereditary leiomyomatosis and renal cell carcinoma complicated with Birt-Hogg-Dube syndrome
AbstractTo date, over 200 families with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) and over 600 families w...
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
IntroductionKBG syndrome (MIM #148050) is an autosomal dominant disorder caused by heterozygous variants in ANKRD11 (locus...
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes
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A multilayered approach to the analysis of genetic data from individuals with suspected albinism
A multilayered approach to the analysis of genetic data from individuals with suspected albinism
BackgroundAlbinism is a group of conditions associated with reduced levels of melanin pigment that result in developmental...
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project
WHAT IS ALREADY KNOWN ON THIS TOPICAlthough it is known that whole genome sequencing can uncover cryptic structural varian...
Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk
Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk
IntroductionUnlike known pathogenic variants in the APC gene, which cause familial adenomatous polyposis, APC (NM_000038.6...
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