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An Analysis of Differentially Expressed Coding and Long Non-Coding RNAs in Multiple Models of Skeletal Muscle Atrophy.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 5, p. 2558, doi. 10.3390/ijms22052558
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- Article
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.
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- Human Genetics, 2023, v. 142, n. 10, p. 1451, doi. 10.1007/s00439-023-02591-9
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- Publication type:
- Article
The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications.
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- Human Genetics, 2020, v. 139, n. 11, p. 1417, doi. 10.1007/s00439-020-02186-8
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- Publication type:
- Article
Molecular analysis of low‐level mosaicism of the IKBKG mutation using the X Chromosome Inactivation pattern in Incontinentia Pigmenti.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1531
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- Publication type:
- Article
Familial cardiac septal defect due to a novel nine-base deletion in TBX20.
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- Pediatrics International, 2022, v. 64, n. 1, p. 1, doi. 10.1111/ped.14995
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- Article
Prevalence of Emanuel syndrome: Theoretical frequency and surveillance result.
- Published in:
- Pediatrics International, 2014, v. 56, n. 4, p. 462, doi. 10.1111/ped.12437
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- Publication type:
- Article
HORMAD2 is essential for synapsis surveillance during meiotic prophase via the recruitment of ATR activity.
- Published in:
- Genes to Cells, 2012, v. 17, n. 11, p. 897, doi. 10.1111/gtc.12005
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- Publication type:
- Article
HORMAD1-dependent checkpoint/surveillance mechanism eliminates asynaptic oocytes.
- Published in:
- Genes to Cells, 2012, v. 17, n. 6, p. 439, doi. 10.1111/j.1365-2443.2012.01600.x
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- Publication type:
- Article
Signature of backward replication slippage at the copy number variation junction.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 5, p. 247, doi. 10.1038/jhg.2014.20
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- Publication type:
- Article
Screening of genes involved in chromosome segregation during meiosis I: in vitro gene transfer to mouse fetal oocytes.
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- Journal of Human Genetics, 2012, v. 57, n. 8, p. 515, doi. 10.1038/jhg.2012.61
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- Publication type:
- Article
Mechanism of complex gross chromosomal rearrangements: A commentary on Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.
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- Journal of Human Genetics, 2012, v. 57, n. 2, p. 81, doi. 10.1038/jhg.2011.143
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- Publication type:
- Article
Screening of genes involved in chromosome segregation during meiosis I: toward the identification of genes responsible for infertility in humans.
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- Journal of Human Genetics, 2010, v. 55, n. 5, p. 293, doi. 10.1038/jhg.2010.26
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- Publication type:
- Article
Recent advance in our understanding of the molecular nature of chromosomal abnormalities.
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- Journal of Human Genetics, 2009, v. 54, n. 5, p. 253, doi. 10.1038/jhg.2009.35
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- Publication type:
- Article
Cruciform extrusion propensity of human translocation-mediating palindromic AT-rich repeats.
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- Nucleic Acids Research, 2007, v. 35, n. 4, p. 1198, doi. 10.1093/nar/gkm036
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- Publication type:
- Article
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63614
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- Publication type:
- Article
Two Japanese patients with Noonan syndrome‐like disorder with loose anagen hair 2.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2246, doi. 10.1002/ajmg.a.62733
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- Publication type:
- Article
Lethal persistent pulmonary hypertension of the newborn in Bohring–Opitz syndrome.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 5, p. 1245, doi. 10.1002/ajmg.a.38681
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- Publication type:
- Article
A Unique TBX5 Microdeletion with Microinsertion Detected in Patient with Holt-Oram Syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3192, doi. 10.1002/ajmg.a.37359
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- Article
An aggressive systemic mastocytosis preceded by ovarian dysgerminoma.
- Published in:
- 2020
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- Publication type:
- journal article
A case of early onset adenocarcinoma associated with colorectal polyposis with an unknown germline mutation.
- Published in:
- 2022
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- Publication type:
- Case Study
A case of early onset adenocarcinoma associated with colorectal polyposis with an unknown germline mutation.
- Published in:
- 2022
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- Publication type:
- Case Study
A Family with Craniofrontonasal Syndrome.
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- Cleft Palate Craniofacial Journal, 2018, v. 55, n. 7, p. 1026, doi. 10.1597/15-347
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- Publication type:
- Article
Age-Related Decrease of Meiotic Cohesins in Human Oocytes.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096710
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- Publication type:
- Article
Myogenin promoter‐associated lncRNA Myoparr is essential for myogenic differentiation.
- Published in:
- EMBO Reports, 2019, v. 20, n. 3, p. N.PAG, doi. 10.15252/embr.201847468
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- Publication type:
- Article
Characterization of the MG828507 lncRNA Located Upstream of the FLT1 Gene as an Etiology for Pre-Eclampsia.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 15, p. 4603, doi. 10.3390/jcm11154603
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- Publication type:
- Article
Palindrome-Mediated Translocations in Humans: A New Mechanistic Model for Gross Chromosomal Rearrangements.
- Published in:
- Frontiers in Genetics, 2016, p. 1, doi. 10.3389/fgene.2016.00125
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- Publication type:
- Article
Generation of human artificial chromosomes expressing naturally controlled guanosine triphosphate cyclohydrolase I gene.
- Published in:
- Genes to Cells, 2002, v. 7, n. 10, p. 1021, doi. 10.1046/j.1365-2443.2002.00580.x
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- Publication type:
- Article
Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome.
- Published in:
- Case Reports in Obstetrics & Gynecology, 2019, p. 1, doi. 10.1155/2019/6753184
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- Publication type:
- Article
Paternal origin of the de novo constitutional t(11;22)(q23;q11).
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- European Journal of Human Genetics, 2010, v. 18, n. 7, p. 783, doi. 10.1038/ejhg.2010.20
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- Publication type:
- Article
A Turner syndrome case associated with dic(Y;22).
- Published in:
- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00556-z
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- Publication type:
- Article
Exonic duplication of the OTC gene by a complex rearrangement that likely occurred via a replication-based mechanism: a case report.
- Published in:
- 2018
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- Publication type:
- Case Study
A case of 46,XY disorders of sex development with congenital heart disease caused by a GATA4 variant.
- Published in:
- Congenital Anomalies, 2022, v. 62, n. 5, p. 203, doi. 10.1111/cga.12482
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- Publication type:
- Article
Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report.
- Published in:
- 2023
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- Publication type:
- Case Study
Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report.
- Published in:
- 2022
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- Publication type:
- Case Study
Preimplantation genetic diagnosis/screening by comprehensive molecular testing.
- Published in:
- Reproductive Medicine & Biology, 2016, v. 15, n. 1, p. 13, doi. 10.1007/s12522-015-0216-6
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- Publication type:
- Article
PCSK5 mutation in a patient with the VACTERL association.
- Published in:
- BMC Research Notes, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13104-015-1166-0
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- Publication type:
- Article
Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 8, p. 1301, doi. 10.1093/hmg/ddac286
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- Publication type:
- Article
Two sequential cleavage reactions on cruciform DNA structures cause palindrome-mediated chromosomal translocations.
- Published in:
- Nature Communications, 2013, v. 4, n. 3, p. 1592, doi. 10.1038/ncomms2595
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- Article
Molecular basis of maternal age-related increase in oocyte aneuploidy.
- Published in:
- Congenital Anomalies, 2012, v. 52, n. 1, p. 8, doi. 10.1111/j.1741-4520.2011.00350.x
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- Publication type:
- Article
Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00181-1
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- Publication type:
- Article
A case with concurrent duplication, triplication, and uniparental isodisomy at 1q42.12-qter supporting microhomology-mediated break-induced replication model for replicative rearrangements.
- Published in:
- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0316-6
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- Publication type:
- Article
Breakpoint analysis of the recurrent constitutional t(8;22)(q24.13;q11.21) translocation.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 1, doi. 10.1186/s13039-014-0055-x
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- Publication type:
- Article
Dual roles for the telomeric repeats in chromosomally integrated human herpesvirus-6.
- Published in:
- Scientific Reports, 2014, p. 1, doi. 10.1038/srep04559
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- Publication type:
- Article
Identification of a Novel Mutation in Carboxyl Ester Lipase Gene in a Patient with MODY-like Diabetes.
- Published in:
- 2022
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- Publication type:
- Case Study
Clinical application of long‐read nanopore sequencing in a preimplantation genetic testing pre‐clinical workup to identify the junction for complex Xq chromosome rearrangement‐related disease.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 3, p. 304, doi. 10.1002/pd.6334
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- Publication type:
- Article
Palindromic AT-rich repeat in the NF1 gene is hypervariable in humans and evolutionarily conserved in primates.
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- Human Mutation, 2005, v. 26, n. 4, p. 332, doi. 10.1002/humu.20228
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- Publication type:
- Article
Genotype determination of the OPN1LW/OPN1MW genes: novel disease-causing mechanisms in Japanese patients with blue cone monochromacy.
- Published in:
- Scientific Reports, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41598-018-29891-9
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- Publication type:
- Article
Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm†.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 13, p. 2630, doi. 10.1093/hmg/ddq150
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- Publication type:
- Article
Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 18, p. 3397, doi. 10.1093/hmg/ddp279
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- Publication type:
- Article
Two different forms of palindrome resolution in the human genome: deletion or translocation.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 8, p. 1184, doi. 10.1093/hmg/ddn008
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- Publication type:
- Article