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Prenatal androgen receptor activation determines adult alcohol and water drinking in a sex-specific way.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Two naturally occurring variants of the serotonin receptor gene HTR3C are associated with nausea in pregnancy.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2010, v. 89, n. 1, p. 7, doi. 10.3109/00016340903322727
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- Publication type:
- Article
BDV Syndrome: An Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome.
- Published in:
- 2021
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- Publication type:
- journal article
Improved Bladder Tumor RNA Isolation from Archived Tissues Using Methylene Blue for Normalization, Multiplex RNA Hybridization, Sequencing and Subtyping.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810267
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- Publication type:
- Article
CRISPR/Cas9-Mediated Knock-Out of KrasG12D Mutated Pancreatic Cancer Cell Lines.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 22, p. 5706, doi. 10.3390/ijms20225706
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- Publication type:
- Article
rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology.
- Published in:
- International Journal of Molecular Sciences, 2018, v. 19, n. 9, p. 2473, doi. 10.3390/ijms19092473
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- Publication type:
- Article
BRCA mutations and their influence on pathological complete response and prognosis in a clinical cohort of neoadjuvantly treated breast cancer patients.
- Published in:
- Breast Cancer Research & Treatment, 2018, v. 171, n. 1, p. 85, doi. 10.1007/s10549-018-4797-8
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- Publication type:
- Article
The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation.
- Published in:
- Human Genetics, 2024, v. 143, n. 8, p. 965, doi. 10.1007/s00439-024-02688-9
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- Publication type:
- Article
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Manifestation of epilepsy in a patient with EED‐related overgrowth (Cohen–Gibson syndrome).
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 1, p. 292, doi. 10.1002/ajmg.a.62496
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- Publication type:
- Article
A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 1, p. 50, doi. 10.1002/ajmg.a.60679
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- Publication type:
- Article
Microphthalmia is not a mandatory finding in X‐linked recessive syndromic microphthalmia caused by the recurrent BCOR variant p.Pro85Leu.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2872, doi. 10.1002/ajmg.a.40640
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- Publication type:
- Article
Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2231, doi. 10.1002/ajmg.a.38288
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- Publication type:
- Article
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 12, p. 3162, doi. 10.1002/ajmg.a.36766
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- Publication type:
- Article
NDST1 missense mutations in autosomal recessive intellectual disability.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2753, doi. 10.1002/ajmg.a.36723
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- Publication type:
- Article
Biallelic SEMA3A defects cause a novel type of syndromic short stature.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2880, doi. 10.1002/ajmg.a.36250
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- Publication type:
- Article
Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.
- Published in:
- Kidney International, 2014, v. 86, n. 3, p. 589, doi. 10.1038/ki.2014.72
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- Publication type:
- Article
Genome-wide association study identifies a common variant associated with risk of endometrial cancer.
- Published in:
- Nature Genetics, 2011, v. 43, n. 5, p. 451, doi. 10.1038/ng.812
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- Publication type:
- Article
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis.
- Published in:
- Nature Genetics, 2010, v. 42, n. 11, p. 996, doi. 10.1038/ng.688
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- Publication type:
- Article
Choline transporter-like1 ( CHER1) is crucial for plasmodesmata maturation in Arabidopsis thaliana.
- Published in:
- Plant Journal, 2017, v. 89, n. 2, p. 394, doi. 10.1111/tpj.13393
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- Publication type:
- Article
Novel Loci for Non-Syndromic Coarctation of the Aorta in Sporadic and Familial Cases.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0126873
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- Publication type:
- Article
Reduced Syncytin-1 Expression Levels in Placental Syndromes Correlates with Epigenetic Hypermethylation of the ERVW-1 Promoter Region.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056145
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- Publication type:
- Article
Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC).
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0042380
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- Publication type:
- Article
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Apolipoprotein A-IV concentrations and cancer in a large cohort of chronic kidney disease patients: results from the GCKD study.
- Published in:
- BMC Cancer, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12885-024-12053-8
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- Publication type:
- Article
Th2 single-cell heterogeneity and clonal distribution at distant sites in helminth-infected mice.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.74183
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- Publication type:
- Article
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 186, doi. 10.1038/ejhg.2010.144
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- Publication type:
- Article
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 170, doi. 10.1038/sj.ejhg.5200920
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- Publication type:
- Article
Bone marrow‐derived myeloid progenitors in the leptomeninges of adult mice.
- Published in:
- Stem Cells, 2021, v. 39, n. 2, p. 227, doi. 10.1002/stem.3311
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- Publication type:
- Article
GPFrontend and GPGraphics: graphical analysis tools for genetic association studies.
- Published in:
- BMC Bioinformatics, 2010, v. 11, p. 472, doi. 10.1186/1471-2105-11-472
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- Publication type:
- Article
Genetic variants in the genes of the sex steroid hormone metabolism and depressive symptoms during and after pregnancy.
- Published in:
- Archives of Gynecology & Obstetrics, 2023, v. 307, n. 6, p. 1763, doi. 10.1007/s00404-022-06644-8
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- Publication type:
- Article
Genetic variations in estrogen and progesterone pathway genes in preeclampsia patients and controls in Bavaria.
- Published in:
- Archives of Gynecology & Obstetrics, 2021, v. 303, n. 4, p. 897, doi. 10.1007/s00404-020-05812-y
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- Publication type:
- Article
Genetic variants in the glucocorticoid pathway genes and birth weight.
- Published in:
- Archives of Gynecology & Obstetrics, 2021, v. 303, n. 2, p. 427, doi. 10.1007/s00404-020-05761-6
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- Publication type:
- Article
Genetic overlap between endometriosis and endometrial cancer: evidence from cross‐disease genetic correlation and GWAS meta‐analyses.
- Published in:
- Cancer Medicine, 2018, v. 7, n. 5, p. 1978, doi. 10.1002/cam4.1445
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- Publication type:
- Article
Genetic interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-58182-5
- By:
- Publication type:
- Article
A comprehensive evaluation of interaction between genetic variants and use of menopausal hormone therapy on mammographic density.
- Published in:
- Breast Cancer Research, 2015, v. 17, n. 1, p. 1, doi. 10.1186/s13058-015-0625-9
- By:
- Publication type:
- Article
A comprehensive evaluation of interaction between genetic variants and use of menopausal hormone therapy on mammographic density.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Integrative bioinformatics analysis characterizing the role of <italic>EDC3</italic> in mRNA decay and its association to intellectual disability.
- Published in:
- BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0358-6
- By:
- Publication type:
- Article
High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder.
- Published in:
- BMC Medical Genomics, 2017, v. 10, p. 1, doi. 10.1186/s12920-017-0299-5
- By:
- Publication type:
- Article
ALS is imprinted in the chromatin accessibility of blood cells.
- Published in:
- Cellular & Molecular Life Sciences, 2023, v. 80, n. 5, p. 1, doi. 10.1007/s00018-023-04769-w
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- Publication type:
- Article
Rho-A prenylation and signaling link epithelial homeostasis to intestinal inflammation.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Analyses of association of psoriatic arthritis and psoriasis vulgaris with functional NCF1 variants.
- Published in:
- Rheumatology, 2019, v. 58, n. 5, p. 915, doi. 10.1093/rheumatology/key448
- By:
- Publication type:
- Article
2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy.
- Published in:
- Nature Communications, 2014, v. 5, n. 6, p. 4051, doi. 10.1038/ncomms5051
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- Publication type:
- Article
Clinical and molecular delineation of spondylocostal dysostosis type 3.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 6, p. 851, doi. 10.1111/cge.13952
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- Publication type:
- Article
Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Differential Effects of Very-Low-Volume Exercise Modalities on Telomere Length, Inflammation, and Cardiometabolic Health in Obese Metabolic Syndrome Patients: A Subanalysis from Two Randomized Controlled Trials.
- Published in:
- Antioxidants, 2023, v. 12, n. 10, p. 1847, doi. 10.3390/antiox12101847
- By:
- Publication type:
- Article
Loss of PHF6 leads to aberrant development of human neuron-like cells.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-75999-2
- By:
- Publication type:
- Article
HLA-G and HLA-F protein isoform expression in breast cancer patients receiving neoadjuvant treatment.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-72837-3
- By:
- Publication type:
- Article
Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 10, p. 2966, doi. 10.1093/hmg/ddv035
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- Publication type:
- Article
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 1, p. 285, doi. 10.1093/hmg/ddu431
- By:
- Publication type:
- Article