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D4Z4 Hypomethylation in Human Germ Cells.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 17, p. 1497, doi. 10.3390/cells13171497
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- Publication type:
- Article
Featured Cover.
- Published in:
- Aging Cell, 2024, v. 23, n. 8, p. 1, doi. 10.1111/acel.14331
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- Publication type:
- Article
Expression of somatic DNA repair genes in human testes.
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- Journal of Cellular Biochemistry, 2007, v. 100, n. 5, p. 1232, doi. 10.1002/jcb.21113
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- Publication type:
- Article
Expression of DNMT3A transcripts and nucleolar localization of DNMT3A protein in human testicular and fibroblast cells suggest a role for de novo DNA methylation in nucleolar inactivation.
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- Journal of Cellular Biochemistry, 2006, v. 98, n. 4, p. 885, doi. 10.1002/jcb.20798
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- Publication type:
- Article
Genome‐wide DNA methylation analysis of colorectal adenomas with and without recurrence reveals an association between cytosine‐phosphate‐guanine methylation and histological subtypes.
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- Genes, Chromosomes & Cancer, 2019, v. 58, n. 11, p. 783, doi. 10.1002/gcc.22787
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- Publication type:
- Article
Achalasia: will genetic studies provide insights?
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- Human Genetics, 2010, v. 128, n. 4, p. 353, doi. 10.1007/s00439-010-0874-8
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- Publication type:
- Article
Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome.
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- Human Genetics, 2006, v. 120, n. 2, p. 179, doi. 10.1007/s00439-006-0215-0
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- Publication type:
- Article
Micro-array analyses decipher exceptional complex familial chromosomal rearrangement.
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- Human Genetics, 2006, v. 119, n. 1/2, p. 145, doi. 10.1007/s00439-005-0103-z
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- Publication type:
- Article
De novo t(7;10)(q33;q23) translocation and closely juxtaposed microdeletion in a patient with macrocephaly and developmental delay.
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- Human Genetics, 2005, v. 117, n. 1, p. 1, doi. 10.1007/s00439-005-1273-4
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- Publication type:
- Article
Centromeric association of chromosome 16- and 18-derived microchromosomes.
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- Human Genetics, 2002, v. 111, n. 1, p. 16, doi. 10.1007/s00439-002-0744-0
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- Publication type:
- Article
Genetic Characterization of Rat Hepatic Stellate Cell Line PAV-1.
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- Cells (2073-4409), 2023, v. 12, n. 12, p. 1603, doi. 10.3390/cells12121603
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- Publication type:
- Article
Rat Hepatic Stellate Cell Line CFSC-2G: Genetic Markers and Short Tandem Repeat Profile Useful for Cell Line Authentication.
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- Cells (2073-4409), 2022, v. 11, n. 18, p. N.PAG, doi. 10.3390/cells11182900
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- Publication type:
- Article
Genetic Characterization of Rat Hepatic Stellate Cell Line HSC-T6 for In Vitro Cell Line Authentication.
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- Cells (2073-4409), 2022, v. 11, n. 11, p. 1783, doi. 10.3390/cells11111783
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- Publication type:
- Article
Species-Specific Paternal Age Effects and Sperm Methylation Levels of Developmentally Important Genes.
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- Cells (2073-4409), 2022, v. 11, n. 4, p. 731, doi. 10.3390/cells11040731
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- Publication type:
- Article
Genetics of Tinnitus: Still in its Infancy.
- Published in:
- 2017
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- Publication type:
- Case Study
Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder.
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- Neurogenetics, 2010, v. 11, n. 1, p. 81, doi. 10.1007/s10048-009-0205-1
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- Publication type:
- Article
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.
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- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00593-w
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- Publication type:
- Article
Differences in DNA Methylation Patterns and Expression of the CCRK Gene in Human and Nonhuman Primate Cortices.
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- Molecular Biology & Evolution, 2009, v. 26, n. 6, p. 1379, doi. 10.1093/molbev/msp046
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- Publication type:
- Article
DNA methylation signatures in cord blood of ICSI children.
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- 2017
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- Publication type:
- journal article
DNA integrity, growth pattern, spindle formation, chromosomal constitution and imprinting patterns of mouse oocytes from vitrified pre-antral follicles.
- Published in:
- Human Reproduction, 2010, v. 25, n. 12, p. 3025, doi. 10.1093/humrep/deq278
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- Publication type:
- Article
Constitutive promoter methylation of BRCA1 and RAD51C in patients with familial ovarian cancer and early-onset sporadic breast cancer.
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- Human Molecular Genetics, 2012, v. 21, n. 21, p. 4669, doi. 10.1093/hmg/dds308
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- Publication type:
- Article
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.
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- Human Molecular Genetics, 2009, v. 18, n. 4, p. 655, doi. 10.1093/hmg/ddn395
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- Publication type:
- Article
Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 21, p. 2591, doi. 10.1093/hmg/ddm216
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- Publication type:
- Article
The DNA methylation profile of human spermatogonia at single-cell- and single-allele-resolution refutes its role in spermatogonial stem cell function and germ cell differentiation.
- Published in:
- Molecular Human Reproduction, 2019, v. 25, n. 6, p. 283, doi. 10.1093/molehr/gaz017
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- Publication type:
- Article
Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.
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- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 208, doi. 10.1038/ejhg.2013.108
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- Publication type:
- Article
Non-syndromic hearing loss: clinical and diagnostic challenges.
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- Medizinische Genetik, 2020, p. 117, doi. 10.1515/medgen-2020-2022
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- Publication type:
- Article
Hereditary auditory disorders.
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- Medizinische Genetik, 2020, p. 107, doi. 10.1515/medgen-2020-2017
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- Publication type:
- Article
Metabolic Programming of MEST DNA Methylation by Intrauterine Exposure to Gestational Diabetes Mellitus.
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- Diabetes, 2013, v. 62, n. 4, p. 1319, doi. 10.2337/db12-0289
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- Publication type:
- Article
Targeted Methylation Profiling of Single Laser-Capture Microdissected Post-Mortem Brain Cells by Adapted Limiting Dilution Bisulfite Pyrosequencing (LDBSP).
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- International Journal of Molecular Sciences, 2022, v. 23, n. 24, p. 15571, doi. 10.3390/ijms232415571
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- Publication type:
- Article
Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 1, p. 311, doi. 10.3390/ijms21010311
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- Publication type:
- Article
Expanding the clinical phenotype of IARS2-related mitochondrial disease.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0709-3
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- Publication type:
- Article
The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0598-5
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- Publication type:
- Article
Dual Diagnosis of Ellis-van Creveld Syndrome and Hearing Loss in a Consanguineous Family.
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- Molecular Syndromology, 2017, v. 9, n. 1, p. 5, doi. 10.1159/000480458
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- Publication type:
- Article
A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment.
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- Molecular Syndromology, 2015, v. 6, n. 4, p. 156, doi. 10.1159/000439576
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- Publication type:
- Article
Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome Rearrangements.
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- Molecular Syndromology, 2015, v. 6, n. 3, p. 110, doi. 10.1159/000438812
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- Publication type:
- Article
De novo t(12;17)(p13.3;q21.3) translocation with a breakpoint near the 5′ end of the HOXB gene cluster in a patient with developmental delay and skeletal malformations.
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- European Journal of Human Genetics, 2007, v. 15, n. 5, p. 570, doi. 10.1038/sj.ejhg.5201795
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- Publication type:
- Article
FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates.
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- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 167, doi. 10.1038/sj.ejhg.5200431
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- Publication type:
- Article
Epigenetic Information from Ancient DNA Provides New Insights into Human Evolution.
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- Brain, Behavior & Evolution, 2014, v. 84, n. 3, p. 169, doi. 10.1159/000365650
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- Publication type:
- Article
Hereditary hearing loss SNP-microarray pilot study.
- Published in:
- BMC Research Notes, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13104-018-3466-7
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- Publication type:
- Article
Gene expression and epigenetic aberrations in F1-placentas fathered by obese males.
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- Molecular Reproduction & Development, 2017, v. 84, n. 4, p. 316, doi. 10.1002/mrd.22784
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- Publication type:
- Article
DNA methylation and mRNA expression of developmentally important genes in bovine oocytes collected from donors of different age categories.
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- Molecular Reproduction & Development, 2016, v. 83, n. 9, p. 802, doi. 10.1002/mrd.22692
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- Publication type:
- Article
Sex‐specific windows for high mRNA expression of DNA methyltransferases 1 and 3A and methyl‐CpG‐binding domain proteins 2 and 4 in human fetal gonads.
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- Molecular Reproduction & Development, 2007, v. 74, n. 2, p. 233, doi. 10.1002/mrd.20615
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- Publication type:
- Article
Extended in vitro maturation affects gene expression and DNA methylation in bovine oocytes.
- Published in:
- Molecular Human Reproduction, 2015, v. 21, n. 10, p. 770, doi. 10.1093/molehr/gav040
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- Publication type:
- Article
Epigenetics of gestational diabetes mellitus and offspring health: the time for action is in early stages of life.
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- Molecular Human Reproduction, 2013, v. 19, n. 7, p. 415, doi. 10.1093/molehr/gat020
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- Publication type:
- Article
Quantitative methylation analysis of developmentally important genes in human pregnancy losses after ART and spontaneous conception.
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- Molecular Human Reproduction, 2010, v. 16, n. 9, p. 704, doi. 10.1093/molehr/gap107
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- Publication type:
- Article
Comparative methylation profiles and telomerase biology of mouse multipotent adult germline stem cells and embryonic stem cells.
- Published in:
- Molecular Human Reproduction, 2009, v. 15, n. 6, p. 345, doi. 10.1093/molehr/gap023
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- Publication type:
- Article
Epigenetic signatures of gestational diabetes mellitus on cord blood methylation.
- Published in:
- Clinical Epigenetics, 2017, v. 9, p. 1, doi. 10.1186/s13148-017-0329-3
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- Publication type:
- Article
Disease Manifestation and Inflammatory Activity as Modulators of Th17/Treg Balance and RORC/FoxP3 Methylation in Systemic Sclerosis.
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- International Archives of Allergy & Immunology, 2016, v. 171, n. 2, p. 141, doi. 10.1159/000450949
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- Publication type:
- Article
Reduced mRNA and Protein Expression of the Genomic Caretaker RAD9A in Primary Fibroblasts of Individuals with Childhood and Independent Second Cancer.
- Published in:
- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0025750
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- Publication type:
- Article
Gestational Diabetes as a Maternal Risk Factor.
- Published in:
- 2020
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- Publication type:
- Letter to the Editor