Sacral agenesis: a pilot whole exome sequencing and copy number study.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0359-2
- By:
- Publication type:
- Article
Works matching IS 14712350 AND DT 2016 AND VI 17
Results: 98
1
2
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
3
Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
4
A single nucleotide polymorphism in the UMOD promoter is associated with end stage renal disease.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0358-3
- By:
- Publication type:
- Article
5
Pseudomyxoma peritonei of a mature ovarian teratoma caused by mismatch repair deficiency in a patient with Lynch syndrome: a case report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
6
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0354-7
- By:
- Publication type:
- Article
7
microRNA-27a rs895819 is associated with obesity in HIV infected preeclamptic Black South African women on HAART.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0353-8
- By:
- Publication type:
- Article
8
Whole exome sequencing identifies a novel missense FBN2 mutation co-segregating in a four-generation Chinese family with congenital contractural arachnodactyly.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0355-6
- By:
- Publication type:
- Article
9
Physical activity and sedentary behavior can modulate the effect of the PNPLA3 variant on childhood NAFLD: a case-control study in a Chinese population.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0352-9
- By:
- Publication type:
- Article
10
Assessment of copy number variations in 120 patients with Poland syndrome.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0351-x
- By:
- Publication type:
- Article
11
Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0349-4
- By:
- Publication type:
- Article
12
Effect of Pregnane X Receptor*1B genetic polymorphisms on postoperative analgesia with fentanyl in Chinese patients undergoing gynecological surgery.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0348-5
- By:
- Publication type:
- Article
13
Benign clear cell "sugar" tumor of the lung in a patient with Birt-Hogg-Dubé syndrome: a case report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
14
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
15
Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0347-6
- By:
- Publication type:
- Article
16
Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
17
Novel homozygous missense mutation in GAN associated with Charcot-Marie-Tooth disease type 2 in a large consanguineous family from Israel.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0343-x
- By:
- Publication type:
- Article
18
Clinical utility of array comparative genomic hybridisation in prenatal setting.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0345-8
- By:
- Publication type:
- Article
19
Lack of direct evidence for natural selection at the candidate thrifty gene locus, PPARGC1A.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0341-z
- By:
- Publication type:
- Article
20
A targeted genome association study examining transient receptor potential ion channels, acetylcholine receptors, and adrenergic receptors in Chronic Fatigue Syndrome/Myalgic Encephalomyelitis.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0342-y
- By:
- Publication type:
- Article
21
Exome sequencing identifies pathogenic variants of VPS13B in a patient with familial 16p11.2 duplication.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
22
Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
23
Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
24
Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR).
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0334-y
- By:
- Publication type:
- Article
25
CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0332-0
- By:
- Publication type:
- Article
26
No association between TGF-β1 polymorphisms and risk of nasopharyngeal carcinoma in a large North African case-control study.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0337-8
- By:
- Publication type:
- Article
27
Diagnosing FSGS without kidney biopsy – a novel INF2-mutation in a family with ESRD of unknown origin.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0336-9
- By:
- Publication type:
- Article
28
Association between global leukocyte DNA methylation and cardiovascular risk in postmenopausal women.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0335-x
- By:
- Publication type:
- Article
29
Associations of recurrent miscarriages with chromosomal abnormalities, thrombophilia allelic polymorphisms and/or consanguinity in Saudi Arabia.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 15, doi. 10.1186/s12881-016-0331-1
- By:
- Publication type:
- Article
30
Identification of novel genetic variations affecting osteoarthritis patients.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 9, doi. 10.1186/s12881-016-0330-2
- By:
- Publication type:
- Article
31
Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi Arabia.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0329-8
- By:
- Publication type:
- Article
32
Association of CD247 (CD3ζ) gene polymorphisms with T1D and AITD in the population of northern Sweden.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0333-z
- By:
- Publication type:
- Article
33
Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo- Humeral Dystrophy: a case report.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0328-9
- By:
- Publication type:
- Article
34
Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0327-x
- By:
- Publication type:
- Article
35
Case report of homozygous deletion involving the first coding exons of GCNT2 isoforms A and B and part of the upstream region of TFAP2A in congenital cataract.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
36
The role of mitochondrial genomics in patients with non-alcoholic steatohepatitis (NASH).
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0324-0
- By:
- Publication type:
- Article
37
A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0326-y
- By:
- Publication type:
- Article
38
PDGF-D gene polymorphism is associated with increased cardiovascular mortality in elderly men.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0325-z
- By:
- Publication type:
- Article
39
HABP2 germline variants are uncommon in familial nonmedullary thyroid cancer.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0323-1
- By:
- Publication type:
- Article
40
Nonsynonymous variants in MYH9 and ABCA4 are the most frequent risk loci associated with nonsyndromic orofacial cleft in Taiwanese population.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0322-2
- By:
- Publication type:
- Article
41
Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0319-x
- By:
- Publication type:
- Article
42
Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0315-1
- By:
- Publication type:
- Article
43
TAS2R38 taste receptor gene and chronic rhinosinusitis: new data from an Italian population.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0321-3
- By:
- Publication type:
- Article
44
Acyl-CoA synthetase long-chain 5 genotype is associated with body composition changes in response to lifestyle interventions in postmenopausal women with overweight and obesity: a genetic association study on cohorts Montréal-Ottawa New Emerging Team, and Complications Associated with Obesity
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0320-4
- By:
- Publication type:
- Article
45
Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
46
W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
47
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0314-2
- By:
- Publication type:
- Article
48
Association study of C-reactive protein associated gene HNF1A with ischemic stroke in Chinese population.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0313-3
- By:
- Publication type:
- Article
49
Genotyping an immunodeficiency causing c.1624-11G>A ZAP70 mutation in Canadian Mennonites.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0312-4
- By:
- Publication type:
- Article
50
Breakpoints and deleted genes identification of ring chromosome 18 in a Chinese girl by whole-genome low-coverage sequencing: a case report study.
- Published in:
- 2016
- By:
- Publication type:
- Case Study