Found: 33
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Multidrug resistance-associated protein (MRP1) is overexpressed in DNA aneuploid carcinomatous cells in non-small cell lung cancer (NSCLC).
- Published in:
- International Journal of Cancer, 2005, v. 113, n. 4, p. 568, doi. 10.1002/ijc.20617
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- Publication type:
- Article
Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers.
- Published in:
- 2013
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- Publication type:
- Journal Article
Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriers.
- Published in:
- Human Reproduction, 2013, v. 28, n. 7, p. 2003, doi. 10.1093/humrep/det121
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- Publication type:
- Article
Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 21, p. 5763, doi. 10.1093/hmg/ddu290
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- Publication type:
- Article
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 71, doi. 10.1038/ejhg.2013.88
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- Publication type:
- Article
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
- Published in:
- 2017
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- Publication type:
- journal article
Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 7875, doi. 10.3390/ijms22157875
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- Publication type:
- Article
Roles of Type 1 Insulin-Like Growth Factor (IGF) Receptor and IGF-II in Growth Regulation: Evidence From a Patient Carrying Both an 11p Paternal Duplication and 15q Deletion.
- Published in:
- Frontiers in Endocrinology, 2019, p. N.PAG, doi. 10.3389/fendo.2019.00263
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- Publication type:
- Article
Various Genital and Reproductive Phenotypes in 46,XX/46,XY Chimeras.
- Published in:
- Sexual Development, 2019, v. 13, n. 5/6, p. 271, doi. 10.1159/000510532
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- Publication type:
- Article
Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 959, doi. 10.1038/ejhg.2011.71
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- Publication type:
- Article
CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 6, p. 452, doi. 10.1038/sj.ejhg.5200984
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- Publication type:
- Article
Simultaneous cell by cell study of both DNA fragmentation and chromosomal segregation in spermatozoa from chromosomal rearrangement carriers.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2013, v. 30, n. 3, p. 383, doi. 10.1007/s10815-012-9915-7
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- Publication type:
- Article
The NLRP3 p.A441V Mutation in NLRP3‐AID Pathogenesis: Functional Consequences, Phenotype‐Genotype Correlations and Evidence for a Recurrent Mutational Event.
- Published in:
- ACR Open Rheumatology, 2019, v. 1, n. 4, p. 267, doi. 10.1002/acr2.1039
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- Publication type:
- Article
Brief Report: Involvement of TNFRSF11A Molecular Defects in Autoinflammatory Disorders.
- Published in:
- Arthritis & Rheumatology, 2014, v. 66, n. 9, p. 2621, doi. 10.1002/art.38727
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- Publication type:
- Article
Normal Growth despite Combined Pituitary Hormone Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2019, v. 92, n. 2, p. 133, doi. 10.1159/000499318
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- Publication type:
- Article
Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 2, p. 117, doi. 10.1111/cge.14141
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- Publication type:
- Article
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 3, p. 307, doi. 10.1111/cge.14096
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- Publication type:
- Article
Finding a single XY cell among XX cells in amniotic fluid by FISH: a possible consequence of a vanishing male twin?
- Published in:
- Prenatal Diagnosis, 2007, v. 27, n. 1, p. 85, doi. 10.1002/pd.1602
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- Publication type:
- Article
Lack of Association between Genetic Polymorphisms in Enzymes Associated with Folate Metabolism and Unexplained Reduced Sperm Counts.
- Published in:
- PLoS ONE, 2009, v. 4, n. 8, p. 1, doi. 10.1371/journal.pone.0006540
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- Publication type:
- Article
Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness.
- Published in:
- Case Reports in Psychiatry, 2017, p. 1, doi. 10.1155/2017/7582780
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- Publication type:
- Article
When a maternal heterozygous mutation of the CYP24A1 gene leads to infantile hypercalcemia through a maternal uniparental disomy of chromosome 20.
- Published in:
- Molecular Cytogenetics (17558166), 2021, v. 14, n. 1, p. 1, doi. 10.1186/s13039-021-00543-4
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- Publication type:
- Article
Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-173
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- Publication type:
- Article
Fluorescence in situ Hybridization and Immunohistochemical Analysis of p53 Expression in Endometrial Cancer: Prognostic Value and Relation to Ploidy.
- Published in:
- Annals of Surgical Oncology: An Oncology Journal for Surgeons, 2008, v. 15, n. 2, p. 484, doi. 10.1245/s10434-007-9712-1
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- Publication type:
- Article
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction.
- Published in:
- Molecular Cytogenetics (17558166), 2017, v. 10, p. 1, doi. 10.1186/s13039-017-0329-1
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- Publication type:
- Article
11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.
- Published in:
- Human Mutation, 2017, v. 38, n. 1, p. 105, doi. 10.1002/humu.23131
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- Publication type:
- Article
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 7, p. 1228, doi. 10.1093/hmg/ddy037
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- Publication type:
- Article
1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 445, doi. 10.1002/ajmg.a.63041
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- Publication type:
- Article
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3057, doi. 10.1002/ajmg.a.62361
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- Publication type:
- Article
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 1, p. 151, doi. 10.1002/ajmg.a.38515
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- Publication type:
- Article
Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2268, doi. 10.1002/ajmg.a.38307
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- Publication type:
- Article
Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1851, doi. 10.1002/ajmg.a.37101
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- Publication type:
- Article
Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 428, doi. 10.1002/ajmg.a.36857
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- Publication type:
- Article
Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.
- Published in:
- 2018
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- Publication type:
- journal article