Found: 72
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Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
- Published in:
- Human Genetics, 2009, v. 126, n. 4, p. 589, doi. 10.1007/s00439-009-0706-x
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- Publication type:
- Article
Male-to-female sex reversal associated with an ∼250 kb deletion upstream of NR0B1 ( DAX1).
- Published in:
- Human Genetics, 2007, v. 122, n. 1, p. 63, doi. 10.1007/s00439-007-0373-8
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- Publication type:
- Article
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.
- Published in:
- Neurogenetics, 2009, v. 10, n. 4, p. 363, doi. 10.1007/s10048-009-0195-z
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- Publication type:
- Article
Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling.
- Published in:
- 2018
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- Publication type:
- journal article
Y-chromosome microdeletions are not associated with SHOX haploinsufficiency.
- Published in:
- Human Reproduction, 2014, v. 29, n. 5, p. 1113, doi. 10.1093/humrep/deu038
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- Publication type:
- Article
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 15, p. 3345, doi. 10.1093/hmg/dds166
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- Publication type:
- Article
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3579, doi. 10.1093/hmg/ddp306
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- Publication type:
- Article
Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 12, p. 2188, doi. 10.1093/hmg/ddp151
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- Publication type:
- Article
Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 11, p. 1924, doi. 10.1093/hmg/ddp114
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- Publication type:
- Article
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
- Published in:
- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0633-y
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- Publication type:
- Article
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 915, doi. 10.1038/ejhg.2014.217
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- Publication type:
- Article
6q22.1 microdeletion and susceptibility to pediatric epilepsy.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 2, p. 173, doi. 10.1038/ejhg.2014.75
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- Publication type:
- Article
CHRNA7 triplication associated with cognitive impairment and neuropsychiatric phenotypes in a three-generation pedigree.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 9, p. 1071, doi. 10.1038/ejhg.2013.302
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- Publication type:
- Article
Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10 362 consecutive cases.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 969, doi. 10.1038/ejhg.2013.285
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- Publication type:
- Article
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 79, doi. 10.1038/ejhg.2013.77
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- Publication type:
- Article
Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1304, doi. 10.1038/ejhg.2013.42
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- Publication type:
- Article
Prenatal detection of 10q22q23 duplications: dilemmas in phenotype prediction.
- Published in:
- 2016
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- Publication type:
- journal article
Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.
- Published in:
- 2012
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- Publication type:
- journal article
Detection of ≥1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 1, p. 10, doi. 10.1002/pd.2855
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- Publication type:
- Article
Targeted gene panel sequencing prenatally detects two novel mutations of DYNC2H1 in a fetus with increased biparietal diameter and polyhydramnios.
- Published in:
- Birth Defects Research, 2018, v. 110, n. 4, p. 364, doi. 10.1002/bdr2.1146
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- Publication type:
- Article
Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 3, p. 343, doi. 10.1038/ejhg.2012.157
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- Publication type:
- Article
Reply to Amor et al.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 597, doi. 10.1038/ejhg.2011.270
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- Publication type:
- Article
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 176, doi. 10.1038/ejhg.2011.171
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- Publication type:
- Article
MECP2 duplications in six patients with complex sex chromosome rearrangements.
- Published in:
- 2011
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- Publication type:
- Correction notice
The phenotype of recurrent 10q22q23 deletions and duplications.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 400, doi. 10.1038/ejhg.2010.211
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- Publication type:
- Article
MECP2 duplications in six patients with complex sex chromosome rearrangements.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 4, p. 409, doi. 10.1038/ejhg.2010.195
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- Publication type:
- Article
Phenotypic manifestations of copy number variation in chromosome 16p13.11.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 280, doi. 10.1038/ejhg.2010.184
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- Publication type:
- Article
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 1, p. 102, doi. 10.1038/ejhg.2010.142
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- Publication type:
- Article
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.
- Published in:
- 2011
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- Publication type:
- Case Study
Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 278, doi. 10.1038/ejhg.2009.174
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- Publication type:
- Article
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
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- Publication type:
- Article
Interstitial deletion of 6q25.2–q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 573, doi. 10.1038/ejhg.2008.220
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- Publication type:
- Article
PTCH1 duplication in a family with microcephaly and mild developmental delay.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 2, p. 267, doi. 10.1038/ejhg.2008.176
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- Publication type:
- Article
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 6, p. 639, doi. 10.1038/ng.2262
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- Publication type:
- Article
Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 11, p. 1074, doi. 10.1038/ng.944
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- Publication type:
- Article
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
- Published in:
- Nature Genetics, 2009, v. 41, n. 12, p. 1269, doi. 10.1038/ng.481
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- Publication type:
- Article
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
- Published in:
- Nature Genetics, 2008, v. 40, n. 6, p. 719, doi. 10.1038/ng.158
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- Publication type:
- Article
Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 9, p. 1, doi. 10.1371/journal.pgen.1003797
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- Publication type:
- Article
Confounding by Repetitive Elements and CpG Islands Does Not Explain the Association between Hypomethylation and Genomic Instability.
- Published in:
- 2013
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- Publication type:
- Opinion
Genomic Hypomethylation in the Human Germline Associates with Selective Structural Mutability in the Human Genome.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 5, p. 1, doi. 10.1371/journal.pgen.1002692
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- Publication type:
- Article
Genotype, Phenotype, and Karyotype Correlation in the XO Mouse Model of Turner Syndrome.
- Published in:
- Journal of Heredity, 2008, v. 99, n. 5, p. 512, doi. 10.1093/jhered/esn027
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- Publication type:
- Article
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07193-y
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- Publication type:
- Article
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 1, p. 29, doi. 10.1002/pd.2127
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- Publication type:
- Article
Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 10, p. 943, doi. 10.1002/pd.2087
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- Publication type:
- Article
Prenatal diagnosis of a 9q34.3 microdeletion by array-CGH in a fetus with an apparently balanced translocation.
- Published in:
- Prenatal Diagnosis, 2007, v. 27, n. 12, p. 1112, doi. 10.1002/pd.1841
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- Publication type:
- Article
First trimester chorionic villus sampling versus mid-trimester genetic amniocentesis--preliminary results of a controlled prospective trial.
- Published in:
- 1988
- By:
- Publication type:
- journal article
Identification of Critical Regions and Candidate Genes for Cardiovascular Malformations and Cardiomyopathy Associated with Deletions of Chromosome 1p36.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0085600
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- Publication type:
- Article
Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development.
- Published in:
- PLoS ONE, 2010, v. 5, n. 10, p. 1, doi. 10.1371/journal.pone.0015392
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- Publication type:
- Article
Loss of δ-catenin function in severe autism.
- Published in:
- Nature, 2015, v. 520, n. 7545, p. 51, doi. 10.1038/nature14186
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- Publication type:
- Article
SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties.
- Published in:
- Nature, 2013, v. 503, n. 7474, p. 72, doi. 10.1038/nature12630
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- Publication type:
- Article