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Mutation and copy number analysis in paroxysmal kinesigenic dyskinesia families.
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- Movement Disorders, 2011, v. 26, n. 4, p. 762, doi. 10.1002/mds.23475
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- Article
A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland.
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- Human Genetics, 2007, v. 121, n. 5, p. 631, doi. 10.1007/s00439-007-0356-9
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- Article
The novel imprinted carboxypeptidase A4 gene (CPA4) in the 7q32 imprinting domain.
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- Human Genetics, 2003, v. 112, n. 3, p. 220, doi. 10.1007/s00439-002-0891-3
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- Article
Intracystic Papillary Carcinoma of Breast Harbors Significant Genomic Alteration Compared with Intracystic Papilloma: Genome-wide Copy Number and LOH Analysis Using High-Density Single-Nucleotide Polymorphism Microarrays.
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- Breast Journal, 2011, v. 17, n. 4, p. 427, doi. 10.1111/j.1524-4741.2011.01110.x
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- Article
Clinical and histological findings of autosomal dominant renal-limited disease with LMX1B mutation.
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- Nephrology, 2016, v. 21, n. 9, p. 765, doi. 10.1111/nep.12666
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- Article
Germline mutations causing familial lung cancer.
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- Journal of Human Genetics, 2015, v. 60, n. 10, p. 597, doi. 10.1038/jhg.2015.75
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- Article
Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US.
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- Journal of Human Genetics, 2014, v. 59, n. 5, p. 251, doi. 10.1038/jhg.2014.9
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- Article
Copy number variation of the antimicrobial-gene, defensin beta 4, is associated with susceptibility to cervical cancer.
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- Journal of Human Genetics, 2013, v. 58, n. 5, p. 250, doi. 10.1038/jhg.2013.7
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- Article
Significance of genomic instability in breast cancer in atomic bomb survivors: analysis of microarray-comparative genomic hybridization.
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- 2011
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- Publication type:
- journal article
Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?
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- FASEB Journal, 2009, v. 23, n. 6, p. 2001, doi. 10.1096/fj.09-129098
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- Article
A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1.
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- 2010
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- Publication type:
- journal article
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.
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- Journal of Human Genetics, 2012, v. 57, n. 6, p. 399, doi. 10.1038/jhg.2012.50
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- Article
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.
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- Journal of Human Genetics, 2012, v. 57, n. 5, p. 338, doi. 10.1038/jhg.2012.23
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- Publication type:
- Article
Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders.
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- Journal of Human Genetics, 2011, v. 56, n. 4, p. 296, doi. 10.1038/jhg.2011.7
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- Article
Epidemiology of human papillomavirus genotypes in pregnant Japanese women.
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- Journal of Human Genetics, 2011, v. 56, n. 4, p. 313, doi. 10.1038/jhg.2011.11
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- Article
Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco–Sjögren syndrome.
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- Journal of Human Genetics, 2010, v. 55, n. 3, p. 142, doi. 10.1038/jhg.2009.141
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- Article
A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12.
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- Journal of Human Genetics, 2010, v. 55, n. 2, p. 124, doi. 10.1038/jhg.2009.131
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- 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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- Article
Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family.
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- Journal of Human Genetics, 2008, v. 53, n. 1, p. 34, doi. 10.1007/s10038-007-0214-6
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- Publication type:
- Article
A Japanese patient with a mild Lenz–Majewski syndrome.
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- Journal of Human Genetics, 2007, v. 52, n. 8, p. 686, doi. 10.1007/s10038-007-0165-y
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- Article
A syndactyly type IV locus maps to 7q36.
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- Journal of Human Genetics, 2007, v. 52, n. 6, p. 561, doi. 10.1007/s10038-007-0150-5
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- Publication type:
- Article
Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families.
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- Journal of Human Genetics, 2007, v. 52, n. 4, p. 334, doi. 10.1007/s10038-007-0116-7
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- Publication type:
- Article
Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid.
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- Journal of Human Genetics, 2006, v. 51, n. 5, p. 412, doi. 10.1007/s10038-006-0376-7
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- Article
Expression of the Snurf–Snrpn IC transcript in the oocyte and its putative role in the imprinting establishment of the mouse 7C imprinting domain.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 236, doi. 10.1007/s10038-005-0351-8
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- Publication type:
- Article
PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses.
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- Journal of Human Genetics, 2006, v. 51, n. 1, p. 38, doi. 10.1007/s10038-005-0319-8
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- Publication type:
- Article
Eosinophil infiltration in three patients with generalized atrophic benign epidermolysis bullosa from a Japanese family: molecular genetic and immunohistochemical studies.
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- Journal of Human Genetics, 2005, v. 50, n. 9, p. 483, doi. 10.1007/s10038-005-0282-4
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- Publication type:
- Article
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus.
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- Journal of Human Genetics, 2004, v. 49, n. 7, p. 360, doi. 10.1007/s10038-004-0158-z
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- Article
Phenotype–genotype correlation in two patients with 12q proximal deletion.
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- Journal of Human Genetics, 2004, v. 49, n. 5, p. 282, doi. 10.1007/s10038-004-0144-5
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- Article
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density.
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- Journal of Human Genetics, 2004, v. 49, n. 2, p. 80, doi. 10.1007/s10038-003-0111-6
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- Article
De novo SOX11 mutations cause Coffin-Siris syndrome.
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- Nature Communications, 2014, v. 5, n. 6, p. 4011, doi. 10.1038/ncomms5011
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- Article
Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1316, doi. 10.1038/ejhg.2013.45
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- Article
Targeting Adaptive IRE1α Signaling and PLK2 in Multiple Myeloma: Possible Anti-Tumor Mechanisms of KIRA8 and Nilotinib.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 17, p. 6314, doi. 10.3390/ijms21176314
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- Article
The Ruby UCSC API: accessing the UCSC genome database using Ruby.
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- BMC Bioinformatics, 2012, v. 13, n. 1, p. 240, doi. 10.1186/1471-2105-13-240
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- Article
Expression of Somatostatin Receptor Type 2A and PTEN in Neuroendocrine Neoplasms Is Associated with Tumor Grade but Not with Site of Origin.
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- Endocrine Pathology, 2016, v. 27, n. 3, p. 179, doi. 10.1007/s12022-016-9436-5
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- Article
Mapping of the 8q23 translocation breakpoint of t(8;13) observed in a patient with multiple exostoses.
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- Genes, Chromosomes & Cancer, 1994, v. 9, n. 1, p. 57, doi. 10.1002/gcc.2870090110
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- Article
Circulating levels of maternal plasma cell-free miR-21 are associated with maternal body mass index and neonatal birth weight.
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- Prenatal Diagnosis, 2015, v. 35, n. 5, p. 509, doi. 10.1002/pd.4509
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- Article
Effect of labor on plasma concentrations and postpartum clearance of cell-free, pregnancy-associated, placenta-specific microRNAs.
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- Prenatal Diagnosis, 2015, v. 35, n. 1, p. 44, doi. 10.1002/pd.4479
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- Publication type:
- Article
Predominantly placenta-expressed mRNAs in maternal plasma as predictive markers for twin-twin transfusion syndrome.
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- Prenatal Diagnosis, 2014, v. 34, n. 4, p. 345, doi. 10.1002/pd.4307
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- Article
Characterization of placenta-specific microRNAs in fetal growth restriction pregnancy.
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- Prenatal Diagnosis, 2013, v. 33, n. 3, p. 214, doi. 10.1002/pd.4045
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- Publication type:
- Article
The possibility of microarray-based analysis using cell-free placental mRNA in maternal plasma.
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- Prenatal Diagnosis, 2010, v. 30, n. 9, p. 849, doi. 10.1002/pd.2570
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- Publication type:
- Article
Correction: Autoinflammatory disease: clinical perspectives and therapeutic strategies.
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- 2022
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- Publication type:
- Correction Notice
An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12–q12.
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- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 535, doi. 10.1038/sj.ejhg.5200485
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- Publication type:
- Article
Poly (I:C) and hyaluronic acid directly interact with NLRP3, resulting in the assembly of NLRP3 and ASC in a cell-free system.
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- European Journal of Inflammation, 2017, v. 15, n. 2, p. 85, doi. 10.1177/1721727X17711047
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- Article
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
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- Nature Genetics, 2010, v. 42, n. 9, p. 790, doi. 10.1038/ng.646
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- Article
A SNP in the ABCC11 gene is the determinant of human earwax type.
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- Nature Genetics, 2006, v. 38, n. 3, p. 324, doi. 10.1038/ng1733
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- Publication type:
- Article
Heterozygous TGFBR2 mutations in Marfan syndrome.
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- Nature Genetics, 2004, v. 36, n. 8, p. 855, doi. 10.1038/ng1392
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- Publication type:
- Article
Target Capture/Next-Generation Sequencing for Nonsyndromic Cleft Lip and Palate in the Japanese Population.
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- Cleft Palate Craniofacial Journal, 2020, v. 57, n. 1, p. 80, doi. 10.1177/1055665619857650
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- Publication type:
- Article
No Evidence of Association Between 8q24 and Susceptibility to Nonsyndromic Cleft Lip With or Without Palate in Japanese Population.
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- Cleft Palate Craniofacial Journal, 2012, v. 49, n. 6, p. 714, doi. 10.1597/10-242
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- Publication type:
- Article
Comprehensive methylation analysis of imprinting-associated differentially methylated regions in colorectal cancer.
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- Clinical Epigenetics, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13148-018-0578-9
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- Publication type:
- Article
Proto-oncogene mutations in middle ear cholesteatoma contribute to its pathogenesis.
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- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01640-6
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- Publication type:
- Article