Found: 78
Select item for more details and to access through your institution.
Chromosomal phenotypes and submicroscopic abnormalities.
- Published in:
- Human Genomics, 2004, v. 1, n. 2, p. 126, doi. 10.1186/1479-7364-1-2-126
- By:
- Publication type:
- Article
22q11.2 Low Copy Repeats Expanded in the Human Lineage.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.706641
- By:
- Publication type:
- Article
What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).
- Published in:
- 2007
- By:
- Publication type:
- journal article
Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 6, p. 282, doi. 10.1159/000479666
- By:
- Publication type:
- Article
Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Preeclampsia is Associated with Sex-Specific Transcriptional and Proteomic Changes in Fetal Erythroid Cells.
- Published in:
- International Journal of Molecular Sciences, 2019, v. 20, n. 8, p. 2038, doi. 10.3390/ijms20082038
- By:
- Publication type:
- Article
Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics.
- Published in:
- Nucleic Acids Research, 2018, v. 46, n. 5, p. 2159, doi. 10.1093/nar/gky066
- By:
- Publication type:
- Article
Large-scale analysis of tandem repeat variability in the human genome.
- Published in:
- Nucleic Acids Research, 2014, v. 42, n. 9, p. 5728, doi. 10.1093/nar/gku212
- By:
- Publication type:
- Article
Molecular genetics of 22q11.2 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2070, doi. 10.1002/ajmg.a.40504
- By:
- Publication type:
- Article
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 9, p. 1897, doi. 10.1002/ajmg.a.40382
- By:
- Publication type:
- Article
Variability in expression of a familial 2.79 Mb microdeletion in chromosome14q22.1-22.2.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1381, doi. 10.1002/ajmg.a.35353
- By:
- Publication type:
- Article
A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 996, doi. 10.1002/ajmg.a.35299
- By:
- Publication type:
- Article
Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 3, p. 574, doi. 10.1002/ajmg.a.35217
- By:
- Publication type:
- Article
Chromosome instability is common in human cleavage-stage embryos.
- Published in:
- Nature Medicine, 2009, v. 15, n. 5, p. 577, doi. 10.1038/nm.1924
- By:
- Publication type:
- Article
eXtasy: variant prioritization by genomic data fusion.
- Published in:
- Nature Methods, 2013, v. 10, n. 11, p. 1083, doi. 10.1038/nmeth.2656
- By:
- Publication type:
- Article
Optimizing the diagnostic workflow for acute lymphoblastic leukemia by optical genome mapping.
- Published in:
- American Journal of Hematology, 2022, v. 97, n. 5, p. 548, doi. 10.1002/ajh.26487
- By:
- Publication type:
- Article
Skeletal muscle repair by adult human mesenchymal stem cells from synovial membrane.
- Published in:
- Journal of Cell Biology, 2003, v. 160, n. 6, p. 909, doi. 10.1083/jcb.200212064
- By:
- Publication type:
- Article
A benchmark of structural variation detection by long reads through a realistic simulated model.
- Published in:
- Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-021-02551-4
- By:
- Publication type:
- Article
Recent Developments in the Genetic Factors Underlying Congenital Diaphragmatic Hernia.
- Published in:
- Fetal Diagnosis & Therapy, 2011, v. 29, n. 1, p. 25, doi. 10.1159/000322422
- By:
- Publication type:
- Article
Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS.
- Published in:
- NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00363-y
- By:
- Publication type:
- Article
Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.
- Published in:
- Journal of Neurodevelopmental Disorders, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s11689-019-9263-3
- By:
- Publication type:
- Article
Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 10, p. 1286, doi. 10.1038/ejhg.2014.282
- By:
- Publication type:
- Article
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 4, p. 551, doi. 10.1038/ejhg.2014.135
- By:
- Publication type:
- Article
Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.
- Published in:
- 2012
- By:
- Publication type:
- Letter
Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 166, doi. 10.1038/ejhg.2011.157
- By:
- Publication type:
- Article
The causality of de novo copy number variants is overestimated.
- Published in:
- 2011
- By:
- Publication type:
- Letter
A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 258, doi. 10.1038/ejhg.2009.164
- By:
- Publication type:
- Article
Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 129, doi. 10.1038/ejhg.2008.168
- By:
- Publication type:
- Article
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 10, p. 1187, doi. 10.1038/ejhg.2008.71
- By:
- Publication type:
- Article
Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 4, p. 422, doi. 10.1038/sj.ejhg.5201785
- By:
- Publication type:
- Article
No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 109, doi. 10.1038/sj.ejhg.5200930
- By:
- Publication type:
- Article
Non-invasive prenatal testing: when results suggests maternal cancer.
- Published in:
- Medizinische Genetik, 2023, v. 35, n. 4, p. 285, doi. 10.1515/medgen-2023-2055
- By:
- Publication type:
- Article
GBSX: a toolkit for experimental design and demultiplexing genotyping by sequencing experiments.
- Published in:
- BMC Bioinformatics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12859-015-0514-3
- By:
- Publication type:
- Article
GBSX: a toolkit for experimental design and demultiplexing genotyping by sequencing experiments.
- Published in:
- BMC Bioinformatics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12859-015-0514-3
- By:
- Publication type:
- Article
Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Detecting mosaicism in trophectoderm biopsies.
- Published in:
- Human Reproduction, 2017, v. 32, n. 3, p. 712, doi. 10.1093/humrep/dew346
- By:
- Publication type:
- Article
Detecting mosaicism in trophectoderm biopsies.
- Published in:
- 2017
- By:
- Publication type:
- Letter
Valproic Acid Confers Functional Pluripotency to Human Amniotic Fluid Stem Cells in a Transgene-free Approach.
- Published in:
- Molecular Therapy, 2012, v. 20, n. 10, p. 1953, doi. 10.1038/mt.2012.117
- By:
- Publication type:
- Article
Single-cell chromosomal imbalances detection by array CGH.
- Published in:
- Nucleic Acids Research, 2006, v. 34, n. 9, p. e68, doi. 10.1093/nar/gkl336
- By:
- Publication type:
- Article
Conserved DNA sequences adjacent to chromosome fragmentation and telomere addition sites inEuplotes crassus.
- Published in:
- Nucleic Acids Research, 1998, v. 26, n. 18, p. 4230, doi. 10.1093/nar/26.18.4230
- By:
- Publication type:
- Article
Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.
- Published in:
- BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0446-7
- By:
- Publication type:
- Article
Ultrasensitive Microhaplotype-Based Detection of Minor Alleles in Cervical Samples of Pregnant Women Identifies Sperm Rather Than Fetal DNA.
- Published in:
- Clinical Chemistry, 2023, v. 69, n. 9, p. 1089, doi. 10.1093/clinchem/hvad107
- By:
- Publication type:
- Article
Single-cell copy number variation detection.
- Published in:
- Genome Biology, 2011, v. 12, n. 8, p. 1, doi. 10.1186/gb-2011-12-8-r80
- By:
- Publication type:
- Article
LEF1 haploinsufficiency causes ectodermal dysplasia.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 4, p. 595, doi. 10.1111/cge.13714
- By:
- Publication type:
- Article
What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.
- Published in:
- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00150
- By:
- Publication type:
- Article
MSH2 knock-down shows CTG repeat stability and concomitant upstream demethylation at the DMPK locus in myotonic dystrophy type 1 human embryonic stem cells.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 21, p. 3566, doi. 10.1093/hmg/ddaa250
- By:
- Publication type:
- Article
Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 17, p. 3754, doi. 10.1093/hmg/ddw221
- By:
- Publication type:
- Article
FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1925, doi. 10.1093/hmg/ddr074
- By:
- Publication type:
- Article
Characterization of centromere alterations in liposarcomas.
- Published in:
- Genes, Chromosomes & Cancer, 2000, v. 29, n. 2, p. 117, doi. 10.1002/1098-2264(2000)9999:9999<::AID-GCC1014>3.0.CO;2-Q
- By:
- Publication type:
- Article