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Molecular distinction between true centric fission and pericentric duplication-fission.
- Published in:
- Human Genetics, 2005, v. 116, n. 4, p. 300, doi. 10.1007/s00439-004-1209-4
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- Publication type:
- Article
Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization.
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- Human Genetics, 2000, v. 106, n. 2, p. 210, doi. 10.1007/s004390051030
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- Publication type:
- Article
Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features.
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- Molecular Autism, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13229-019-0271-7
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- Article
β-glucuronidase use as a single internal control gene may confound analysis in FMR1 mRNA toxicity studies.
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- PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0192151
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- Publication type:
- Article
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.
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- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1516, doi. 10.1093/hmg/ddt002
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- Article
Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.
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- Human Molecular Genetics, 2010, v. 19, n. 8, p. 1618, doi. 10.1093/hmg/ddq037
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- Article
Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 16, p. 3907, doi. 10.3390/ijms20163907
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- Article
Application of a new molecular technique for the genetic evaluation of products of conception.
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- Prenatal Diagnosis, 2013, v. 33, n. 1, p. 32, doi. 10.1002/pd.4004
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- Article
White Matter Changes in Patients with Parkinson's Disease Carrying Small CGG Expansion FMR1 Alleles: A Pilot Study.
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- Neurodegenerative Diseases, 2014, v. 14, n. 2, p. 67, doi. 10.1159/000356190
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- Article
Molecular Inconsistencies in a Fragile X Male with Early Onset Ataxia.
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- Genes, 2016, v. 7, n. 9, p. 68, doi. 10.3390/genes7090068
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- Article
Prenatal detection of deletion-duplication of chromosome 3 arising from meiotic recombination of a familial pericentric inversion.
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- Prenatal Diagnosis, 2008, v. 28, n. 5, p. 466, doi. 10.1002/pd.2005
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- Article
Karyotype, phenotype and parental origin in 19 cases of triploidy.
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- Prenatal Diagnosis, 2001, v. 21, n. 12, p. 1034, doi. 10.1002/pd.164
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- Article
A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy.
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- 2000
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- Publication type:
- journal article
Detection of aneuploidy in single cells using comparative genomic hybridization.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 9, p. 846, doi. 10.1002/(SICI)1097-0223(199909)19:9<846::AID-PD657>3.0.CO;2-#
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- Publication type:
- Article
Maternal uniparental isodisomy for chromosome 14 detected prenatally.
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- 1999
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- Publication type:
- journal article
PRENATAL DIAGNOSIS OF PRADER-WILLI SYNDROME USING PW71 METHYLATION ANALYSIS-UNIPARENTAL DISOMY AND THE SIGNIFICANCE OF RESIDUAL TRISOMY 15.
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- Prenatal Diagnosis, 1997, v. 17, n. 2, p. 109, doi. 10.1002/(SICI)1097-0223(199702)17:2<109::AID-PD36>3.0.CO;2-2
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- Publication type:
- Article
Investigating and Correcting Plasma DNA Sequencing Coverage Bias to Enhance Aneuploidy Discovery.
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- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086993
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- Publication type:
- Article
A Genotype-First Approach for the Molecular and Clinical Characterization of Uncommon De Novo Microdeletion of 20q13.33.
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- PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0012462
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- Publication type:
- Article
Phenotypic variability of distal 22q11.2 copy number abnormalities.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1623, doi. 10.1002/ajmg.a.34051
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- Publication type:
- Article
Identification and Characterization of a Novel Family of Mammalian Ependymin-Related Proteins (MERPs) in Hematopoietic, Nonhematopoietic, and Malignant Tissues.
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- DNA & Cell Biology, 2001, v. 20, n. 10, p. 625, doi. 10.1089/104454901753340613
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- Publication type:
- Article
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome.
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- BMC Medical Genetics, 2005, v. 6, p. 18, doi. 10.1186/1471-2350-6-18
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- Publication type:
- Article
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.
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- Clinical Chemistry, 2016, v. 62, n. 2, p. 343, doi. 10.1373/clinchem.2015.244681
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- Publication type:
- Article
Use of Copy Number Deletion Polymorphisms to Assess DNA Chimerism.
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- Clinical Chemistry, 2014, v. 60, n. 8, p. 1105, doi. 10.1373/clinchem.2013.216077
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- Publication type:
- Article
Early Detection of Fragile X Syndrome: Applications of a Novel Approach for Improved Quantitative Methylation Analysis in Venous Blood and Newborn Blood Spots.
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- Clinical Chemistry, 2014, v. 60, n. 7, p. 963, doi. 10.1373/clinchem.2013.217331
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- Publication type:
- Article
Detection of cryptic subtelomeric chromosome abnormalities and identification of anonymous chromatin using a quantitative multiplex ligation-dependent probe amplification (MLPA) assay.
- Published in:
- Human Mutation, 2005, v. 26, n. 5, p. 477, doi. 10.1002/humu.20243
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- Publication type:
- Article
BAC-based PCR fragment microarray: High-resolution detection of chromosomal deletion and duplication breakpoints.
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- Human Mutation, 2005, v. 25, n. 5, p. 476, doi. 10.1002/humu.20164
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- Publication type:
- Article
Improved testing for CMT1A and HNPP using multiplex ligation-dependent probe amplification (MLPA) with rapid DNA preparations: Comparison with the interphase FISH Method.
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- Human Mutation, 2004, v. 24, n. 2, p. 164, doi. 10.1002/humu.20072
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- Publication type:
- Article
High resolution chromosomal microarray in undiagnosed neurological disorders.
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- Journal of Paediatrics & Child Health, 2013, v. 49, n. 9, p. 716, doi. 10.1111/jpc.12256
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- Publication type:
- Article
Fragile X Mental Retardation 1 (FMR1) Intron 1 Methylation in Blood Predicts Verbal Cognitive Impairment in Female Carriers of Expanded FMR1 Alleles: Evidence from a Pilot Study.
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- Clinical Chemistry, 2012, v. 58, n. 3, p. 590, doi. 10.1373/clinchem.2011.177626
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- Publication type:
- Article
Extending the scope of diagnostic chromosome analysis: Detection of single gene defects using high-resolution SNP microarrays.
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- Human Mutation, 2011, v. 32, n. 12, p. 1500, doi. 10.1002/humu.21581
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- Article
Effect of vehicle mass changes on the accuracy of Kalman filter estimation of electric vehicle speed.
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- IET Electrical Systems in Transportation (Wiley-Blackwell), 2013, v. 3, n. 3, p. 67, doi. 10.1049/iet-est.2012.0027
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- Article
Generation of environmentally enhanced products: Clean technology for paper chemicals.
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- Journal of Chemical Technology & Biotechnology, 1997, v. 70, n. 1, p. 60, doi. 10.1002/(SICI)1097-4660(199709)70:1<60::AID-JCTB656>3.0.CO;2-R
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- Publication type:
- Article
'Reduction' of CGG trinucleotide expansion from mother to offspring in seven fragile-X families.
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- Clinical Genetics, 1997, v. 51, n. 1, p. 1, doi. 10.1111/j.1399-0004.1997.tb02405.x
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- Publication type:
- Article
Partially Methylated Alleles, Microdeletion, and Tissue Mosaicism in a Fragile X Male with Tremor and Ataxia at 30 Years of Age: A Case Report.
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- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3327, doi. 10.1002/ajmg.a.37954
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- Article
Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1439, doi. 10.1002/ajmg.a.37603
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- Publication type:
- Article
Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2485, doi. 10.1002/ajmg.a.37163
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- Article
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 77, doi. 10.1002/ajmg.a.36203
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- Article
<italic>ADGRV1</italic> is implicated in myoclonic epilepsy.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 2, p. 381, doi. 10.1111/epi.13980
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- Article
Methylation Analysis in Newborn Screening for Fragile X Syndrome.
- Published in:
- JAMA Neurology, 2014, v. 71, n. 6, p. 800, doi. 10.1001/jamaneurol.2014.142
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- Article