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Linkage analysis of adult height in a large pedigree from a Dutch genetically isolated population.
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- Human Genetics, 2009, v. 126, n. 3, p. 457, doi. 10.1007/s00439-009-0686-x
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- Article
Unraveling the pathogenesis of Parkinson's disease -- the contribution of monogenic forms.
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- Cellular & Molecular Life Sciences, 2004, v. 61, n. 14, p. 1729
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- Article
A polymorphism in the gene for IGF-I: functional properties and risk for type 2 diabetes and myocardial infarction.
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- 2001
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- Publication type:
- journal article
Menopause impacts the relation of plasma adiponectin levels with the metabolic syndrome.
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- Journal of Internal Medicine, 2010, v. 267, n. 4, p. 402, doi. 10.1111/j.1365-2796.2009.02162.x
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- Article
Heritability of Serum Iron, Ferritin and Transferrin Saturation in a Genetically Isolated Population, the Erasmus Rucphen Family (ERF) Study.
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- Human Heredity, 2006, v. 61, n. 4, p. 222, doi. 10.1159/000094777
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- Article
EVI5 is a risk gene for multiple sclerosis.
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- Genes & Immunity, 2008, v. 9, n. 4, p. 334, doi. 10.1038/gene.2008.22
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- Article
Fancm-deficient mice reveal unique features of Fanconi anemia complementation group M.
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- Human Molecular Genetics, 2009, v. 18, n. 18, p. 3484, doi. 10.1093/hmg/ddp297
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- Article
A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51.
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- Nature Communications, 2015, v. 6, n. 12, p. 8829, doi. 10.1038/ncomms9829
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- Article
Defective sister chromatid cohesion is synthetically lethal with impaired APC/C function.
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- Nature Communications, 2015, v. 6, n. 10, p. 8399, doi. 10.1038/ncomms9399
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- Article
A cross-linker-sensitive myeloid leukemia cell line from a 2-year-old boy with severe Fanconi anemia and biallelic FANCD1/ BRCA2 mutations.
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- Genes, Chromosomes & Cancer, 2005, v. 42, n. 4, p. 404, doi. 10.1002/gcc.20153
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- Article
Diagnosis of Fanconi Anemia: Chromosomal Breakage Analysis.
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- Anemia (20901267), 2012, p. 1, doi. 10.1155/2012/238731
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- Article
Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome.
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- Anemia (20901267), 2010, p. 1, doi. 10.1155/2010/565268
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- Article
SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype.
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- Nature Genetics, 2011, v. 43, n. 2, p. 138, doi. 10.1038/ng.751
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- Article
A novel ubiquitin ligase is deficient in Fanconi anemia.
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- Nature Genetics, 2003, v. 35, n. 2, p. 165, doi. 10.1038/ng1241
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- Article
Oxygen-dependence of chromosomal aberrations in Fanconi's anaemia.
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- Nature, 1981, v. 290, n. 5802, p. 142, doi. 10.1038/290142a0
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- Publication type:
- Article
Sensitivity to chromosomal breakage as risk factor in young adults with oral squamous cell carcinoma.
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- 2016
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- Publication type:
- journal article
Risk calculation of missed prenatal diagnosis of fragile-X syndrome.
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- Prenatal Diagnosis, 1990, v. 10, n. 8, p. 545, doi. 10.1002/pd.1970100811
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- Article
Cystic fibrosis allele segregation.
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- Nature, 1988, v. 334, n. 6177, p. 20, doi. 10.1038/334020a0
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- Article
Decreased systemic IL-7 and soluble IL-7Rα in multiple sclerosis patients.
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- Genes & Immunity, 2012, v. 13, n. 7, p. 587, doi. 10.1038/gene.2012.34
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- Publication type:
- Article
Body composition by dual-energy X-ray absorptiometry in women with previous pre-eclampsia or small-for-gestational-age offspring.
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- BJOG: An International Journal of Obstetrics & Gynaecology, 2009, v. 116, n. 3, p. 442, doi. 10.1111/j.1471-0528.2008.02044.x
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- Article
STOX1 gene in pre-eclampsia and intrauterine growth restriction.
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- BJOG: An International Journal of Obstetrics & Gynaecology, 2007, v. 114, n. 9, p. 1163, doi. 10.1111/j.1471-0528.2007.01414.x
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- Article
Insulin-resistance and metabolic syndrome are related to executive function in women in a large family-based study.
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- European Journal of Epidemiology, 2010, v. 25, n. 8, p. 561, doi. 10.1007/s10654-010-9476-y
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- Article
Genome-wide analyses of borderline personality features.
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- Molecular Psychiatry, 2014, v. 19, n. 8, p. 923, doi. 10.1038/mp.2013.109
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- Article
A K<sub>ATP</sub> channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila.
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- Molecular Psychiatry, 2013, v. 18, n. 1, p. 122, doi. 10.1038/mp.2011.142
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- Article
A genome-wide linkage study of individuals with high scores on NEO personality traits.
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- Molecular Psychiatry, 2012, v. 17, n. 10, p. 1031, doi. 10.1038/mp.2011.97
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- Article
Genetic risk profiles for depression and anxiety in adult and elderly cohorts.
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- Molecular Psychiatry, 2011, v. 16, n. 7, p. 773, doi. 10.1038/mp.2010.65
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- Article
Meta-analyses of genetic studies on major depressive disorder.
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- Molecular Psychiatry, 2008, v. 13, n. 8, p. 772, doi. 10.1038/sj.mp.4002088
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- Article
Genetic and clinical analysis of a large Dutch Gilles de la Tourette family.
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- Molecular Psychiatry, 2006, v. 11, n. 10, p. 954, doi. 10.1038/sj.mp.4001877
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- Publication type:
- Article
Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.
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- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18066-8
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- Article
The Cellular Phenotype of Roberts Syndrome Fibroblasts as Revealed by Ectopic Expression of ESCO2.
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- PLoS ONE, 2009, v. 4, n. 9, p. 1, doi. 10.1371/journal.pone.0006936
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- Article
Fancf-deficient mice are prone to develop ovarian tumours.
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- Journal of Pathology, 2012, v. 226, n. 1, p. 28, doi. 10.1002/path.2992
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- Article
The fragile-X syndrome: a growing gene causing familial intellectual disability.
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- Journal of Intellectual Disability Research, 1994, v. 38, n. 1, p. 1, doi. 10.1111/j.1365-2788.1994.tb00342.x
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- Article
FAAP100 is essential for activation of the Fanconi anemia-associated DNA damage response pathway.
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- EMBO Journal, 2007, v. 26, n. 8, p. 2104, doi. 10.1038/sj.emboj.7601666
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- Article
Sex-specific genetic effects influence variation in body composition.
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- Diabetologia, 2008, v. 51, n. 12, p. 2233, doi. 10.1007/s00125-008-1163-0
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- Article
Heritability of fasting glucose levels in a young genetically isolated population.
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- Diabetologia, 2006, v. 49, n. 4, p. 667, doi. 10.1007/s00125-006-0142-6
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- Article
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism.
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- 2003
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- Publication type:
- journal article
Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7.
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- 2002
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- Publication type:
- journal article
The parkin gene and its phenotype. Italian PD Genetics Study Group, French PD Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease.
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- 2001
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- Publication type:
- journal article
The parkin gene and its phenotype.
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- Neurological Sciences, 2001, v. 22, n. 1, p. 51, doi. 10.1007/s100720170042
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- Article
The fragile X syndrome.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 139, doi. 10.1023/A:1005392319533
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- Publication type:
- Article
Non-redundant roles in sister chromatid cohesion of the DNA helicase DDX11 and the SMC3 acetyl transferases ESCO1 and ESCO2.
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- PLoS ONE, 2020, v. 15, n. 1, p. 1, doi. 10.1371/journal.pone.0220348
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- Article
Familial clustering and genetic risk for dementia in a genetically isolated Dutch population.
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- Brain: A Journal of Neurology, 2004, v. 127, n. 7, p. 1641, doi. 10.1093/brain/awh179
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- Article
A clinical-genetic study of Parkinson’s disease in a genetically isolated community.
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- Journal of Neurology, 2003, v. 250, n. 9, p. 1056, doi. 10.1007/s00415-003-0151-z
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- Publication type:
- Article
Exceptional good cognitive and phenotypic profile in a male carrying a mosaic mutation in the FMR1 gene.
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- Clinical Genetics, 2007, v. 72, n. 2, p. 138, doi. 10.1111/j.1399-0004.2007.00829.x
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- Article
Studying the genetics of Hirschsprung's disease: unraveling an oligogenic disorder.
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- Clinical Genetics, 2005, v. 67, n. 1, p. 6, doi. 10.1111/j.1399-0004.2004.00319.x
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- Publication type:
- Article
Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: A genetic and clinicopathological study of three dutch families.
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- Annals of Neurology, 1997, v. 41, n. 2, p. 150, doi. 10.1002/ana.410410205
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- Article
Understanding fragile X syndrome: insights from animal models.
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- Cytogenetic & Genome Research, 2003, v. 100, n. 1-4, p. 111, doi. 10.1159/000072845
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- Article
The X chromosome and fragile X mental retardation.
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- Cytogenetic & Genome Research, 2002, v. 99, n. 1-4, p. 257, doi. 10.1159/000071602
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- Publication type:
- Article
Genetics of Gilles de la tourette syndrome.
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- Movement Disorders, 1992, v. 7, n. S1, p. 3, doi. 10.1002/mds.870070504
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- Publication type:
- Article
The effect of an mGluR5 inhibitor on procedural memory and avoidance discrimination impairments in Fmr1 KO mice.
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- Genes, Brain & Behavior, 2012, v. 11, n. 3, p. 325, doi. 10.1111/j.1601-183X.2011.00763.x
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- Publication type:
- Article