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Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.
- Published in:
- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0260-4
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- Publication type:
- Article
Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report.
- Published in:
- 2015
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- Publication type:
- Case Study
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
- Published in:
- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0261-3
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- Article
Physical activity, smoking, and genetic predisposition to obesity in people from Pakistan: the PROMIS study.
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- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0259-x
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- Publication type:
- Article
Development and validation of a high throughput, closed tube method for the determination of haemoglobin alpha gene (HBA1 and HBA2) numbers by gene ratio assay copy enumeration-PCR (GRACE-PCR).
- Published in:
- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0258-y
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- Article
MECP2 duplication syndrome in a Chinese family.
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- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0264-0
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- Article
Placental DNA methylation at term reflects maternal serum levels of INHA and FN1, but not PAPPA, early in pregnancy.
- Published in:
- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0257-z
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- Publication type:
- Article
No association between the common calcium-sensing receptor polymorphism rs1801725 and irritable bowel syndrome.
- Published in:
- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0256-0
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- Article
Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individuals.
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- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0252-4
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- Publication type:
- Article
Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs11842874.
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- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0254-2
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- Article
Genetic association analysis of miRNA SNPs implicates MIR145 in breast cancer susceptibility.
- Published in:
- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0248-0
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- Publication type:
- Article
Genetic contribution of SCARB1 variants to lipid traits in African Blacks: a candidate gene association study.
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- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0250-6
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- Publication type:
- Article
Common variants in LEPR, IL6, AMD1, and NAMPT do not associate with risk of juvenile and childhood obesity in Danes: a case-control study.
- Published in:
- 2015
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- Publication type:
- Case Study
KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant.
- Published in:
- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0247-1
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- Publication type:
- Article
Evolutionary context for the association of γ-globin, serum uric acid, and hypertension in African Americans.
- Published in:
- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0249-z
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- Publication type:
- Article
Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities.
- Published in:
- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0240-8
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- Publication type:
- Article
A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.
- Published in:
- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0251-5
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- Publication type:
- Article
Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project.
- Published in:
- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0246-2
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- Publication type:
- Article
Erratum to: Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case–control study.
- Published in:
- 2015
- Publication type:
- Correction Notice
Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease.
- Published in:
- 2015
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- Publication type:
- Case Study
Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin.
- Published in:
- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0243-5
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- Publication type:
- Article
Genetics, sleep and memory: a recall-by-genotype study of ZNF804A variants and sleep neurophysiology.
- Published in:
- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0244-4
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- Publication type:
- Article
Mutation in NRAS in familial Noonan syndrome - case report and review of the literature.
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- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0239-1
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- Publication type:
- Article
A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis.
- Published in:
- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0241-7
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- Publication type:
- Article
MTTP-297H polymorphism reduced serum cholesterol but increased risk of non-alcoholic fatty liver disease-a cross-sectional study.
- Published in:
- BMC Medical Genetics, 2015, v. 16, p. 1, doi. 10.1186/s12881-015-0242-6
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- Publication type:
- Article
Analysis of association among clinical features and shorter leukocyte telomere length in mitochondrial diabetes with m.3243A>G mitochondrial DNA mutation.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0238-2
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- Publication type:
- Article
Relationships between putative G-quadruplex-forming sequences, RecQ helicases, and transcription.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0236-4
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- Publication type:
- Article
Next-generation-based targeted sequencing as an efficient tool for the study of the genetic background in Hirschsprung patients.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0235-5
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- Publication type:
- Article
Angiogenesis related genes NOS3, CD14, MMP3 and IL4R are associated to VEGF gene expression and circulating levels in healthy adults.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0234-6
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- Publication type:
- Article
NPHS2 mutations account for only 15 % of nephrotic syndrome cases.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0231-9
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- Publication type:
- Article
SDHC methylation in gastrointestinal stromal tumors (GIST): a case report.
- Published in:
- 2015
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- Publication type:
- Case Study
β<sub>2</sub>-Adrenergic receptor promoter haplotype influences the severity of acute viral respiratory tract infection during infancy: a prospective cohort study.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0229-3
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- Publication type:
- Article
Screening of genetic alterations related to non-syndromic hearing loss using MassARRAY iPLEX® technology.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0232-8
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- Publication type:
- Article
Insertion of an extra copy of Xq22.2 into 1p36 results in functional duplication of the PLP1 gene in a girl with classical Pelizaeus-Merzbacher disease.
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- 2015
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- Publication type:
- Case Study
Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL–C levels in a latvian population.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0230-x
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- Publication type:
- Article
Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0223-9
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- Publication type:
- Article
Functional characterisation of the osteoarthritis susceptibility locus at chromosome 6q14.1 marked by the polymorphism rs9350591.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0215-9
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- Publication type:
- Article
Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0224-8
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- Publication type:
- Article
Hair shaft structures in EDAR induced ectodermal dysplasia.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0227-5
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- Publication type:
- Article
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.
- Published in:
- 2015
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- Publication type:
- Case Study
Spinal ependymoma in a patient with Kabuki syndrome: a case report.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Association of single nucleotide polymorphism rs3792876 in SLC22A4 gene with autoimmune thyroid disease in a Chinese Han population.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0222-x
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- Publication type:
- Article
Polymorphism in microRNA-binding site in HNF1B influences the susceptibility of type 2 diabetes mellitus: a population based case-control study.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0219-5
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- Publication type:
- Article
β<sub>2</sub>-Adrenergic receptor promoter haplotype influences the severity of acute viral respiratory tract infection during infancy: a prospective cohort study.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 82, doi. 10.1186/s12881-015-0229-3
- By:
- Publication type:
- Article
A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 74, doi. 10.1186/s12881-015-0220-z
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- Publication type:
- Article
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0217-7
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- Publication type:
- Article
Novel FOXL2 mutations in two Chinese families with blepharophimosis-ptosis-epicanthus inversus syndrome.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 73, doi. 10.1186/s12881-015-0217-7
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- Publication type:
- Article
LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0221-y
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- Publication type:
- Article
A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Genetic polymorphisms associated with the inflammatory response in bacterial meningitis.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0218-6
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- Publication type:
- Article