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Impact of brown rice-specific γ-oryzanol on epigenetic modulation of dopamine D2 receptors in brain striatum in high-fat-diet-induced obesity in mice.
- Published in:
- Diabetologia, 2017, v. 60, n. 8, p. 1502, doi. 10.1007/s00125-017-4305-4
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- Publication type:
- Article
Long-term dietary nitrite and nitrate deficiency causes the metabolic syndrome, endothelial dysfunction and cardiovascular death in mice.
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- Diabetologia, 2017, v. 60, n. 6, p. 1138, doi. 10.1007/s00125-017-4259-6
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- Publication type:
- Article
Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 1, p. 27, doi. 10.1038/jhg.2014.97
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- Publication type:
- Article
A commentary on the promise of whole-exome sequencing in medical genetics.
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- Journal of Human Genetics, 2014, v. 59, n. 3, p. 117, doi. 10.1038/jhg.2014.7
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- Publication type:
- Article
A commentary on The diagnostic utility of exome sequencing in Joubert syndrome and related disorders.
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- Journal of Human Genetics, 2013, v. 58, n. 2, p. 57, doi. 10.1038/jhg.2012.138
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- Publication type:
- Article
The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations.
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- Journal of Human Genetics, 2012, v. 57, n. 12, p. 787, doi. 10.1038/jhg.2012.114
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- Publication type:
- Article
Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.
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- Pediatric Nephrology, 2024, v. 39, n. 8, p. 2351, doi. 10.1007/s00467-024-06347-z
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- Publication type:
- Article
Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1383176
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- Publication type:
- Article
A commentary on Implication of gene copy number variation in health and diseases.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 2, p. 79, doi. 10.1038/jhg.2011.140
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- Publication type:
- Article
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
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- Journal of Human Genetics, 2009, v. 54, n. 5, p. 304, doi. 10.1038/jhg.2009.30
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- Publication type:
- Article
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
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- Nucleic Acids Research, 2024, v. 52, n. 1, p. 114, doi. 10.1093/nar/gkad1140
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- Publication type:
- Article
Novel intronic polymorphisms in the presenilin-2 gene and a case-control association study of Alzheimer’s disease.
- Published in:
- Psychiatry & Clinical Neurosciences, 1999, v. 53, n. 5, p. 579, doi. 10.1046/j.1440-1819.1999.00609.x
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- Publication type:
- Article
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
- Published in:
- 2019
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- Publication type:
- journal article
Naso-maxillary deformity due to frontonasal expression of human transthyretin gene in transgenic mice.
- Published in:
- Genes to Cells, 2002, v. 7, n. 10, p. 1087, doi. 10.1046/j.1365-2443.2002.00581.x
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- Publication type:
- Article
Disruption of the midkine gene (Mdk) resulted in altered expression of a calcium binding protein in the hippocampus of infant mice and their abnormal behaviour.
- Published in:
- Genes to Cells, 1998, v. 3, n. 12, p. 811, doi. 10.1046/j.1365-2443.1998.00231.x
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- Publication type:
- Article
Identification of Four Novel Synonymous Substitutions in the X-Linked Genes Neuroligin 3 and Neuroligin 4X in Japanese Patients with Autistic Spectrum Disorder.
- Published in:
- Autism Research & Treatment, 2012, p. 1, doi. 10.1155/2012/724072
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- Publication type:
- Article
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 376, doi. 10.1038/ng.2219
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- Publication type:
- Article
A SNP in the ABCC11 gene is the determinant of human earwax type.
- Published in:
- Nature Genetics, 2006, v. 38, n. 3, p. 324, doi. 10.1038/ng1733
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- Publication type:
- Article
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
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- Nature Genetics, 2006, v. 38, n. 3, p. 294, doi. 10.1038/ng1749
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- Publication type:
- Article
Comparison of ES cell fate in sandwiched aggregates and co-cultured aggregates during blastocyst formation by monitored GFP expression.
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- Molecular Reproduction & Development, 1999, v. 52, n. 4, p. 376, doi. 10.1002/(SICI)1098-2795(199904)52:4<376::AID-MRD6>3.0.CO;2-U
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- Publication type:
- Article
NT5E mutation in sisters who underwent aortic valve replacements for aortic stenosis.
- Published in:
- Interactive Cardiovascular & Thoracic Surgery, 2022, v. 34, n. 1, p. 45, doi. 10.1093/icvts/ivab229
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- Publication type:
- Article
Defective smooth muscle development in qkI-deficient mice.
- Published in:
- Development, Growth & Differentiation, 2003, v. 45, n. 5/6, p. 449, doi. 10.1111/j.1440-169X.2003.00712.x
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- Publication type:
- Article
The Upstream Sequence of a New Growth/Differentiation Factor, Midkine (MK), Mediates Developmentally Regulated lac Z Gene Expression in Transgenic Mice.
- Published in:
- Development, Growth & Differentiation, 1994, v. 36, n. 2, p. 231, doi. 10.1111/j.1440-169X.1994.00231.x
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- Publication type:
- Article
A novel mutation in a mother and a son with Aarskog-Scott syndrome.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2013, v. 26, n. 3/4, p. 385, doi. 10.1515/jpem-2012-0233
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- Publication type:
- Article
Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population.
- Published in:
- Frontiers in Neuroscience, 2024, p. 1, doi. 10.3389/fnins.2024.1437668
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- Publication type:
- Article
Bernard–Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion.
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- International Journal of Hematology, 2024, v. 120, n. 1, p. 142, doi. 10.1007/s12185-024-03768-2
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- Publication type:
- Article
HIST1H1E syndrome with deficiency in multiple pituitary hormones.
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- Clinical Pediatric Endocrinology, 2023, v. 32, n. 3, p. 195, doi. 10.1297/cpe.2023-0002
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- Publication type:
- Article
X-linked mental retardation and severe short stature with a novel mutation of the KDM5C gene.
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- Clinical Pediatric Endocrinology, 2021, v. 30, n. 1, p. 61, doi. 10.1297/cpe.30.61
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- Publication type:
- Article
A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression.
- Published in:
- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-023-00260-x
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- Publication type:
- Article
A novel HECW2 variant in an infant with congenital long QT syndrome.
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- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00245-w
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- Publication type:
- Article
GRIA3 p.Met661Thr variant in a female with developmental epileptic encephalopathy.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00232-1
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- Publication type:
- Article
Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00187-9
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- Publication type:
- Article
Novel NARS2 variant causing leigh syndrome with normal lactate levels.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00191-z
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- Publication type:
- Article
Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00189-7
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- Publication type:
- Article
Four pedigrees with aminoacyl-tRNA synthetase abnormalities.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 4, p. 2765, doi. 10.1007/s10072-021-05626-z
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- Publication type:
- Article
Mild prominence of the Sylvian fissure in a Bainbridge‐Ropers syndrome patient with a novel frameshift variant in <italic>ASXL3</italic>.
- Published in:
- Clinical Case Reports, 2018, v. 6, n. 2, p. 330, doi. 10.1002/ccr3.1361
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- Publication type:
- Article
Biallelic variants in LARS1 induce steatosis in developing zebrafish liver via enhanced autophagy.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03226-6
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- Publication type:
- Article
Diagnostic delay of MYH9‐related disorder in Japan.
- Published in:
- British Journal of Haematology, 2024, v. 204, n. 6, p. 2400, doi. 10.1111/bjh.19484
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- Publication type:
- Article
De novo variants in <italic>SETD1B</italic> are associated with intellectual disability, epilepsy and autism.
- Published in:
- Human Genetics, 2018, v. 137, n. 1, p. 95, doi. 10.1007/s00439-017-1863-y
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- Publication type:
- Article
KARS‐related diseases with macrothrombocytes and pulmonary arterial hypertension.
- Published in:
- 2023
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- Publication type:
- Case Study
Feeding disorder in a patient with Wiedemann–Steiner syndrome.
- Published in:
- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.15203
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- Publication type:
- Article
Autoimmune hemolytic anemia associated with Takenouchi–Kosaki syndrome.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
A case report of rare ZC4H2‐associated disorders associated with three large hernias.
- Published in:
- 2020
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- Publication type:
- Case Study
Human N-Acetylglucosamine-6-O-Sulfotransferase Involved in the Biosynthesis of 6-Sulfo Sialyl Lewis X: Molecular Cloning, Chromosomal Mapping, and Expression in Various Organs and Tumor Cells1.
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- Journal of Biochemistry, 1998, v. 124, n. 3, p. 670, doi. 10.1093/oxfordjournals.jbchem.a022164
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- Publication type:
- Article
Analysis of the mechanism of leukemia caused by gain-of-function mutations in miR-142.
- Published in:
- Experimental Animals, 2022, v. 71, p. 106
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- Publication type:
- Article
Analysis of the mechanism of leukemia caused by gain-of-function mutations in miR-142.
- Published in:
- Experimental Animals, 2022, v. 71, p. 74
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- Publication type:
- Article
Mouse chondroitin 6‐sulfotransferase: molecular cloning, characterization and chromosomal mapping.
- Published in:
- Glycobiology, 1998, v. 8, n. 5, p. 489, doi. 10.1093/glycob/8.5.489
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- Publication type:
- Article
Publisher Correction: Essential roles of plexin-B3<sup>+</sup> oligodendrocyte precursor cells in the pathogenesis of Alzheimer's disease.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Essential roles of plexin-B3+ oligodendrocyte precursor cells in the pathogenesis of Alzheimer's disease.
- Published in:
- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02404-7
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- Publication type:
- Article
Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease.
- Published in:
- Human Genome Variation, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41439-021-00144-y
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- Publication type:
- Article