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Analysis of association among clinical features and shorter leukocyte telomere length in mitochondrial diabetes with m.3243A>G mitochondrial DNA mutation.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0238-2
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- Article
Relationships between putative G-quadruplex-forming sequences, RecQ helicases, and transcription.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0236-4
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- 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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- 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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- 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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- Article
Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL–C levels in a latvian population.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0230-x
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- Article
SDHC methylation in gastrointestinal stromal tumors (GIST): a case report.
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- 2015
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- Publication type:
- Case Study
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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- 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.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0224-8
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- Article
Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0223-9
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- Article
β<sub>2</sub>-Adrenergic receptor promoter haplotype influences the severity of acute viral respiratory tract infection during infancy: a prospective cohort study.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0229-3
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- Article
Functional characterisation of the osteoarthritis susceptibility locus at chromosome 6q14.1 marked by the polymorphism rs9350591.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0215-9
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- Article
Spinal ependymoma in a patient with Kabuki syndrome: a case report.
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- 2015
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- Publication type:
- Case Study
Hair shaft structures in EDAR induced ectodermal dysplasia.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0227-5
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- Article
CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.
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- 2015
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- Publication type:
- Case Study
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
Polymorphism in microRNA-binding site in HNF1B influences the susceptibility of type 2 diabetes mellitus: a population based case-control study.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0219-5
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- Article
Association of single nucleotide polymorphism rs3792876 in SLC22A4 gene with autoimmune thyroid disease in a Chinese Han population.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0222-x
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- 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
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- Publication type:
- Case Study
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
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
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- Publication type:
- Article
LOXL1 gene variants and their association with pseudoexfoliation glaucoma (XFG) in Spanish patients.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0221-y
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- Publication type:
- Article
Genetic variations of MUC17 are associated with endometriosis development and related infertility.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0209-7
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- Publication type:
- Article
Two novel genetic variants in the mineralocorticoid receptor gene associated with spontaneous preterm birth.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0205-y
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- Article
Sex-specific genetic effects in physical activity: results from a quantitative genetic analysis.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0207-9
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- Article
Genetic polymorphisms associated with the inflammatory response in bacterial meningitis.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0218-6
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- Article
The importance of distinguishing between the odds ratio and the incidence rate ratio in GWAS.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0210-1
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- Article
Progesterone Receptor (PGR) gene polymorphism is associated with susceptibility to preterm birth.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0202-1
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- Article
KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0211-0
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- Article
SNP55, a new functional polymorphism of MDM2-P2 promoter, contributes to allele-specific expression of MDM2 in endometrial cancers.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0216-8
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- Publication type:
- Article
Gender-specific associations between ADIPOQ gene polymorphisms and adiponectin levels and obesity in the Jackson Heart Study cohort.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0214-x
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- Article
A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review.
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- 2015
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- Publication type:
- Case Study
Adjusting heterogeneous ascertainment bias for genetic association analysis with extended families.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0198-6
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- Article
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.
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- 2015
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- Publication type:
- Case Study
Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0204-z
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- Publication type:
- Article
Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case-control study.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0208-8
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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
- 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
Longitudinal follow up of a boy affected by Pol III-related leukodystrophy: a detailed phenotype description.
- Published in:
- 2015
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- Publication type:
- Case Study
Sequence variation in telomerase reverse transcriptase (TERT) as a determinant of risk of cardiovascular disease: the Atherosclerosis Risk in Communities (ARIC) study.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0194-x
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- Publication type:
- Article
The role of p19 and p21 H-Ras proteins and mutants in miRNA expression in cancer and a Costello syndrome cell model.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0184-z
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- Article
Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening.
- Published in:
- 2015
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- Publication type:
- Case Study
Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0191-0
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- Article
Genetic contribution to multiple sclerosis risk among Ashkenazi Jews.
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- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0201-2
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- Publication type:
- Article
SNP array and FISH analysis of a proband with a 22q13.2- 22qter duplication shed light on the molecular origin of the rearrangement.
- Published in:
- 2015
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- Publication type:
- Case Study
Evaluation of an association between plasma total homocysteine and schizophrenia by a Mendelian randomization analysis.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0197-7
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- Publication type:
- Article
First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0200-3
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- Publication type:
- Article
Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism.
- Published in:
- 2015
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- Publication type:
- Case Study
Molecular characterization of ring chromosome 18 by low-coverage next generation sequencing.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0206-x
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- Publication type:
- Article
Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.
- Published in:
- BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0196-8
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- Publication type:
- Article