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A framework for the clinical implementation of optical genome mapping in hematologic malignancies.
- Published in:
- American Journal of Hematology, 2024, v. 99, n. 4, p. 642, doi. 10.1002/ajh.27175
- By:
- Publication type:
- Article
Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental Conditions.
- Published in:
- PLoS Currents, 2017, p. 18, doi. 10.1371/currents.eogt.7d92ce775800ef3fbc72e3840fb1bc22
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- Publication type:
- Article
Validation of a SNP-based non-invasive prenatal test to detect the fetal 22q11.2 deletion in maternal plasma samples.
- Published in:
- PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0193476
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- Publication type:
- Article
Activation of the DNA damage checkpoint and genomic instability in human precancerous lesions.
- Published in:
- Nature, 2005, v. 434, n. 7035, p. 907, doi. 10.1038/nature03485
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- Publication type:
- Article
Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 4, p. 381, doi. 10.1002/pd.6477
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- Publication type:
- Article
Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Right or wrong? Looking through the retrospectoscope to analyse predictions made a decade ago in prenatal diagnosis and fetal surgery.
- Published in:
- Prenatal Diagnosis, 2020, v. 40, n. 13, p. 1627, doi. 10.1002/pd.5870
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- Publication type:
- Article
Right or wrong? Looking through the retrospectoscope to analyse predictions made a decade ago in prenatal diagnosis and fetal surgery.
- Published in:
- 2020
- By:
- Publication type:
- journal article
The 2019 Malcolm Ferguson-Smith Young Investigator Award.
- Published in:
- 2020
- By:
- Publication type:
- editorial
The 2018 Malcolm Ferguson-Smith Young Investigator Award.
- Published in:
- 2019
- By:
- Publication type:
- editorial
Are all chromosome microarrays the same? What clinicians need to know.
- Published in:
- 2019
- By:
- Publication type:
- journal article
In case you missed it: The prenatal diagnosis editors bring you the most significant advances of 2018.
- Published in:
- 2019
- By:
- Publication type:
- editorial
Reliable detection of subchromosomal deletions and duplications using cell-based noninvasive prenatal testing.
- Published in:
- 2018
- By:
- Publication type:
- journal article
The 2017 Malcolm Ferguson-Smith Young Investigator Award.
- Published in:
- 2018
- By:
- Publication type:
- editorial
In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2017.
- Published in:
- 2018
- By:
- Publication type:
- journal article
The 2016 Malcolm Ferguson-Smith Young Investigator Award.
- Published in:
- 2017
- By:
- Publication type:
- editorial
In case you missed it: the Prenatal Diagnosis editors bring you the most significant advances of 2016.
- Published in:
- 2017
- By:
- Publication type:
- editorial
The 2015 Malcolm Ferguson-Smith Young Investigator Award.
- Published in:
- 2016
- By:
- Publication type:
- editorial
Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 13, p. 1233, doi. 10.1002/pd.3993
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- Publication type:
- Article
3′ UTR Deletion of FBXO28 in a Patient with Brain Abnormalities and Developmental Delay.
- Published in:
- Genes, 2023, v. 14, n. 9, p. 1687, doi. 10.3390/genes14091687
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- Publication type:
- Article
Mutations in the Cholesterol Transporter Gene <i>ABCA5</i> Are Associated with Excessive Hair Overgrowth.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 5, p. 1, doi. 10.1371/journal.pgen.1004333
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- Publication type:
- Article
Trps1 and Its Target Gene Sox9 Regulate Epithelial Proliferation in the Developing Hair Follicle and Are Associated with Hypertrichosis.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 11, p. 1, doi. 10.1371/journal.pgen.1003002
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- Publication type:
- Article
At the dawn of personalized reproductive medicine: opportunities and challenges with incorporating multigene panel testing into fertility care.
- Published in:
- 2017
- By:
- Publication type:
- Editorial
Incidental identification of balanced translocation carrier patients through comprehensive chromosome screening of IVF-derived blastocysts.
- Published in:
- Journal of Assisted Reproduction & Genetics, 2013, v. 30, n. 6, p. 787, doi. 10.1007/s10815-013-0008-z
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- Publication type:
- Article
Noninvasive Prenatal Testing: The Future Is Now.
- Published in:
- Reviews in Obstetrics & Gynecology, 2013, v. 6, n. 2, p. 48, doi. 10.3909/riog0201
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- Publication type:
- Article
SNP microarray-based 24 chromosome aneuploidy screening is significantly more consistent than FISH.
- Published in:
- Molecular Human Reproduction, 2010, v. 16, n. 8, p. 583, doi. 10.1093/molehr/gaq039
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- Publication type:
- Article
Prevalence and Physical Distribution of SRY in the Gonads of a Woman with Turner Syndrome: Phenotypic Presentation, Tubal Formation, and Malignancy Risk.
- Published in:
- Hormone Research in Paediatrics, 2017, v. 88, n. 3/4, p. 291, doi. 10.1159/000477240
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- Publication type:
- Article
Genomic Alterations in Pulmonary Adenocarcinoma In Situ in an Adolescent Patient.
- Published in:
- Archives of Pathology & Laboratory Medicine, 2014, v. 138, n. 4, p. 559, doi. 10.5858/arpa.2012-0741-CR
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- Publication type:
- Article
Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Induced pluripotent stem cells from human revertant keratinocytes for the treatment of epidermolysis bullosa.
- Published in:
- Science Translational Medicine, 2014, v. 6, n. 264, p. 1, doi. 10.1126/scitranslmed.3009342
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- Publication type:
- Article
3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Deficiency in prohormone convertase PC1 impairs prohormone processing in Prader-Willi syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Genomic imbalances in pediatric patients with chronic kidney disease.
- Published in:
- Journal of Clinical Investigation, 2015, v. 125, n. 5, p. 2171, doi. 10.1172/JCI80877
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- Publication type:
- Article
Non-invasive prenatal aneuploidy testing: technologies and clinical implications.
- Published in:
- Medical Laboratory Observer (MLO), 2013, v. 45, n. 6, p. 8
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- Publication type:
- Article
Duplication of the ZIC2 gene is not associated with holoprosencephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 103, doi. 10.1002/ajmg.a.34375
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- Publication type:
- Article
The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1884, doi. 10.1002/ajmg.a.34090
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- Publication type:
- Article
Study protocol: childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort study.
- Published in:
- BMC Pediatrics, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12887-021-02809-7
- By:
- Publication type:
- Article
Study protocol: childhood outcomes of fetal genomic variants: the PrenatAL Microarray (PALM) cohort study.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Identification of novel genomic imbalances in Saudi patients with congenital heart disease.
- Published in:
- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0356-6
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- Publication type:
- Article
Germline mosacism in Shprintzen-Goldberg syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1574, doi. 10.1002/ajmg.a.35388
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- Publication type:
- Article
Glut1 deficiency syndrome and erythrocyte glucose uptake assay.
- Published in:
- Annals of Neurology, 2011, v. 70, n. 6, p. 996, doi. 10.1002/ana.22640
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- Publication type:
- Article
Glut1 deficiency: Inheritance pattern determined by haploinsufficiency.
- Published in:
- Annals of Neurology, 2010, v. 68, n. 6, p. 955, doi. 10.1002/ana.22088
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- Publication type:
- Article
Cloning and characterization of human PREB; a gene that maps to a genomic region associated with trisomy 2p syndrome.
- Published in:
- Mammalian Genome, 2000, v. 11, n. 8, p. 675, doi. 10.1007/s003350010142
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- Publication type:
- Article
High‐resolution genomic alterations in Barrett's metaplasia of patients who progress to esophageal dysplasia and adenocarcinoma.
- Published in:
- International Journal of Cancer, 2019, v. 145, n. 10, p. 2754, doi. 10.1002/ijc.32351
- By:
- Publication type:
- Article
Implementation of Nanopore sequencing as a pragmatic workflow for copy number variant confirmation in the clinic.
- Published in:
- Journal of Translational Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12967-023-04243-y
- By:
- Publication type:
- Article