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Increased levels of pregnancy-associated plasma protein-A2 in the serum of pre-eclamptic patients.
- Published in:
- Molecular Human Reproduction, 2008, v. 14, n. 10, p. 595, doi. 10.1093/molehr/gan054
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- Publication type:
- Article
Placental Genetic Variants in the Upstream Region of the FLT1 Gene in Preeclampsia.
- Published in:
- Journal of Reproduction & Infertility, 2020, v. 21, n. 4, p. 240, doi. 10.18502/jri.v21i4.4328
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- Publication type:
- Article
Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2018, v. 44, n. 7, p. 1313, doi. 10.1111/jog.13647
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- Publication type:
- Article
CD9 Gene Variations Are Not Associated with Female Infertility in Humans.
- Published in:
- Gynecologic & Obstetric Investigation, 2010, v. 69, n. 2, p. 116, doi. 10.1159/000262451
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- Publication type:
- Article
Analysis of Nitric Oxide Metabolism as a Placental or Maternal Factor Underlying the Etiology of Pre-Eclampsia.
- Published in:
- Gynecologic & Obstetric Investigation, 2009, v. 68, n. 4, p. 239, doi. 10.1159/000238381
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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.
- Published in:
- 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.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 12, p. 1, doi. 10.1002/mgg3.1531
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- Publication type:
- 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
Recent advance in our understanding of the molecular nature of chromosomal abnormalities.
- Published in:
- 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.
- Published in:
- Nucleic Acids Research, 2007, v. 35, n. 4, p. 1198, doi. 10.1093/nar/gkm036
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- Publication type:
- Article
Polymorphisms in the annexin A5 gene promoter in Japanese women with recurrent pregnancy loss.
- Published in:
- Molecular Human Reproduction, 2011, v. 17, n. 7, p. 447, doi. 10.1093/molehr/gar008
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- Publication type:
- Article
Lethal persistent pulmonary hypertension of the newborn in Bohring–Opitz syndrome.
- Published in:
- 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
Potential role for nectin-4 in the pathogenesis of pre-eclampsia: a molecular genetic study.
- Published in:
- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0681-y
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- Publication type:
- Article
An aggressive systemic mastocytosis preceded by ovarian dysgerminoma.
- Published in:
- 2020
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- Publication type:
- journal article
Mouse model for allogeneic immune reaction against fetus recapitulates human pre-eclampsia.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2008, v. 34, n. 1, p. 1, doi. 10.1111/j.1447-0756.2007.00679.x
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- Publication type:
- Article
Lack of association between orexin receptor gene polymorphisms and obstructive sleep apnea syndrome in Japanese.
- Published in:
- Sleep & Biological Rhythms, 2011, v. 9, n. 2, p. 73, doi. 10.1111/j.1479-8425.2011.00487.x
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- Publication type:
- Article
Emergence and Characterization of Unusual DS-1-Like G1P[8] Rotavirus Strains in Children with Diarrhea in Thailand.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0141739
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- Publication type:
- Article
Whole Genomic Analysis of an Unusual Human G6P[14] Rotavirus Strain Isolated from a Child with Diarrhea in Thailand: Evidence for Bovine-To-Human Interspecies Transmission and Reassortment Events.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0139381
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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
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
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).
- Published in:
- 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
Incontinentia pigmenti inherited from a father with a low level atypical IKBKG deletion mosaicism: a case report.
- Published in:
- 2022
- By:
- Publication type:
- journal article
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
Potentially effective method for fetal gender determination by noninvasive prenatal testing for X‐linked disease.
- Published in:
- Congenital Anomalies, 2019, v. 59, n. 3, p. 88, doi. 10.1111/cga.12302
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- Publication type:
- Article
Multiplex PCR in noninvasive prenatal diagnosis for FGFR3‐related disorders.
- Published in:
- Congenital Anomalies, 2019, v. 59, n. 1, p. 4, doi. 10.1111/cga.12278
- By:
- Publication type:
- Article
Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Usefulness of combined NGS and QF‐PCR analysis for product of conception karyotyping.
- Published in:
- Reproductive Medicine & Biology, 2022, v. 21, n. 1, p. 1, doi. 10.1002/rmb2.12449
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- Publication type:
- Article
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
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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- 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
DNA methylation accumulation in gastric mucosa adjacent to cancer after Helicobacter pylori eradication.
- Published in:
- International Journal of Cancer, 2019, v. 144, n. 1, p. 80, doi. 10.1002/ijc.31667
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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
A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report.
- Published in:
- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0640-2
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- Publication type:
- Article
Novel mutation in the KITLG gene in familial progressive hyperpigmentation with or without hypopigmentation.
- Published in:
- Journal of Dermatology, 2020, v. 47, n. 6, p. 669, doi. 10.1111/1346-8138.15313
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- Publication type:
- Article
An Infant Case of Streptococcus Pneumoniae-Associated Thrombotic Microangiopathy with Heterozygous CFI Mutation and CFHR3-CFHR1 Deletion.
- Published in:
- Tohoku Journal of Experimental Medicine, 2022, v. 258, n. 3, p. 183, doi. 10.1620/tjem.2022.J076
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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
- By:
- Publication type:
- Case Study
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
Genetic Variation in the Indoleamine 2,3-Dioxygenase Gene in Pre-eclampsia.
- Published in:
- American Journal of Reproductive Immunology, 2010, v. 64, n. 1, p. 68, doi. 10.1111/j.1600-0897.2010.00820.x
- By:
- Publication type:
- Article
The Etiological Role of Allogeneic Fetal Rejection in Pre-Eclampsia.
- Published in:
- American Journal of Reproductive Immunology, 2007, v. 58, n. 1, p. 11, doi. 10.1111/j.1600-0897.2007.00484.x
- By:
- Publication type:
- Article
Impact of DPYD, DPYS, and UPB1 gene variations on severe drug‐related toxicity in patients with cancer.
- Published in:
- Cancer Science, 2020, v. 111, n. 9, p. 3359, doi. 10.1111/cas.14553
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- Publication type:
- Article
Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases.
- Published in:
- Cytogenetic & Genome Research, 2020, v. 160, n. 3, p. 118, doi. 10.1159/000507177
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- Publication type:
- Article
Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis.
- Published in:
- Cytogenetic & Genome Research, 2018, v. 153, n. 1, p. 1, doi. 10.1159/000481586
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- Publication type:
- Article
Intragenic duplication in the PHKD1 gene in autosomal recessive polycystic kidney disease.
- Published in:
- 2015
- By:
- Publication type:
- Case Study