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MSH2 c.1022T>C, p.Leu341Pro is a founder pathogenic variation and a major cause of Lynch syndrome in the North of France.
- Published in:
- Genes, Chromosomes & Cancer, 2020, v. 59, n. 2, p. 111, doi. 10.1002/gcc.22804
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- Publication type:
- Article
Positional candidate gene analysis of Lim domain homeobox gene (Isl-1) on chromosome 5q11-q13 in a French morbidly obese population suggests indication for association with type 2 diabetes.
- Published in:
- 2002
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- Publication type:
- journal article
Mutation screening and association studies of the human uncoupling protein 3 gene in normoglycemic and diabetic morbidly obese patients.
- Published in:
- 1999
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- Publication type:
- journal article
Mutation screening of the human UCP 2 gene in normoglycemic and NIDDM morbidly obese patients: lack of association between new UCP 2 polymorphisms and obesity in French Caucasians.
- Published in:
- 1998
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- Publication type:
- journal article
Concordance of two multiple analytical approaches demonstrate that interaction between BMI and ADIPOQ haplotypes is a determinant of LDL cholesterol in a general French population.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 4, p. 227, doi. 10.1038/jhg.2010.10
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- Publication type:
- Article
A Novel Rare Missense Variation of the NOD2 Gene: Evidences of Implication in Crohn's Disease.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 4, p. 835, doi. 10.3390/ijms20040835
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- Publication type:
- Article
New multiplex PCR-based protocol allowing indirect diagnosis of FSHD on single cells: can PGD be offered despite high risk of recombination?
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 533, doi. 10.1038/ejhg.2009.207
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- Publication type:
- Article
New First-Trimester Crown-Rump Length Equations from a French General Population.
- Published in:
- Fetal Diagnosis & Therapy, 2012, v. 32, n. 4, p. 277, doi. 10.1159/000339272
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- Publication type:
- Article
Spatial heterogeneity of KRAS mutations in colorectal cancers in northern France.
- Published in:
- Cancer Management & Research, 2019, v. 11, p. 8337, doi. 10.2147/CMAR.S211119
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- Publication type:
- Article
Are anxiety and depression associated with cognition and cardiovascular function in young male and female adults?
- Published in:
- PLoS ONE, 2023, v. 18, n. 10, p. 1, doi. 10.1371/journal.pone.0292246
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- Publication type:
- Article
Mortality and Cancer in Pediatric-Onset Inflammatory Bowel Disease: A Population-Based Study.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2013, v. 108, n. 10, p. 1647, doi. 10.1038/ajg.2013.242
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- Publication type:
- Article
Nutritional Status and Growth in Pediatric Crohn's Disease: A Population-Based Study.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2010, v. 105, n. 8, p. 1893, doi. 10.1038/ajg.2010.20
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- Publication type:
- Article
MBNL1 gene variants as modifiers of disease severity in myotonic dystrophy type 1.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 4, p. 998, doi. 10.1007/s00415-012-6740-y
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- Publication type:
- Article
GAD2 on Chromosome 10p12 Is a Candidate Gene for Human Obesity.
- Published in:
- PLoS Biology, 2003, v. 1, n. 3, p. 361, doi. 10.1371/journal.pbio.0000068
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- Publication type:
- Article
GAD2 on Chromosome 10p12 Is a Candidate Gene for Human Obesity.
- Published in:
- PLoS Biology, 2003, v. 1, n. 11, p. 1, doi. 10.1371/journal.pbio.0000068
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- Publication type:
- Article
Corrigendum: Polymorphisms in the Mannose-Binding Lectin Gene are Associated with Defective Mannose-Binding Lectin Functional Activity in Crohn's Disease Patients.
- Published in:
- Scientific Reports, 2016, p. 33426, doi. 10.1038/srep33426
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- Publication type:
- Article
Polymorphisms in the Mannose-Binding Lectin Gene are Associated with Defective Mannose-Binding Lectin Functional Activity in Crohn's Disease Patients.
- Published in:
- Scientific Reports, 2016, p. 29636, doi. 10.1038/srep29636
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- Publication type:
- Article
Adiponectin, type 2 diabetes and the metabolic syndrome: lessons from human genetic studies.
- Published in:
- Expert Reviews in Molecular Medicine, 2006, v. 8, n. 27, p. 1, doi. 10.1017/S1462399406000147
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- Publication type:
- Article
The genetics of adiponectin.
- Published in:
- Current Diabetes Reports, 2003, v. 3, n. 2, p. 151, doi. 10.1007/s11892-003-0039-4
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- Publication type:
- Article
The CARD8 p.C10X mutation associates with a low anti-glycans antibody response in patients with Crohn's disease.
- Published in:
- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-35
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- Publication type:
- Article
A CD36 nonsense mutation associated with insulin resistance and familial type 2 diabetes.
- Published in:
- Human Mutation, 2004, v. 24, n. 1, p. 104, doi. 10.1002/humu.9256
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- Publication type:
- Article
Polymorphism of the dopamine transporter type 1 gene modifies the treatment response in Parkinson's disease.
- Published in:
- Brain: A Journal of Neurology, 2015, v. 138, n. 5, p. 1271, doi. 10.1093/brain/awv063
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- Publication type:
- Article
Space-time clusters of Crohn’s disease in northern France.
- Published in:
- Journal of Public Health (09431853), 2013, v. 21, n. 6, p. 497, doi. 10.1007/s10389-013-0580-9
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- Publication type:
- Article
A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.
- Published in:
- Annals of Neurology, 2002, v. 52, n. 5, p. 666, doi. 10.1002/ana.10344
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- Publication type:
- Article
Single-nucleotide polymorphism haplotypes in the both proximal promoter and exon 3 of the APM1 gene modulate adipocyte-secreted adiponectin hormone levels and contribute to the genetic risk for type 2 diabetes in French Caucasians.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 21, p. 2607, doi. 10.1093/hmg/11.21.2607
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- Publication type:
- Article
Gentle blood aspiration and tube cushioning reduce pneumatic tube system interference in lactate dehydrogenase assays.
- Published in:
- 2016
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- Publication type:
- journal article
Hypoadiponectinemia Is Associated With Progression Toward Type 2 Diabetes and Genetic Variation in the ADIPOQ Gene Promoter.
- Published in:
- 2006
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- Publication type:
- Case Study
Analysis of sequence variability in the CART gene in relation to obesity in a Caucasian population.
- Published in:
- BMC Genetics, 2005, v. 6, p. 1, doi. 10.1186/1471-2156-6-19
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- Publication type:
- Article