Found: 24
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Characterizing PALB2 intragenic duplication breakpoints in a triple-negative breast cancer case using long-read sequencing.
- Published in:
- Frontiers in Oncology, 2024, p. 1, doi. 10.3389/fonc.2024.1355715
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- Publication type:
- Article
Identification of Disrupted AUTS2 and EPHA6 Genes by Array Painting in a Patient Carrying a De Novo Balanced Translocation t(3;7) with Intellectual Disability and Neurodevelopment Disorder.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3031, doi. 10.1002/ajmg.a.37350
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- Article
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 177, doi. 10.1002/ajmg.a.36166
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- Publication type:
- Article
Le chromothripsis: Une forme insoupçonnée de complexification extrême des remaniements chromosomiques.
- Published in:
- Médecine Sciences, 2014, v. 30, n. 3, p. 266, doi. 10.1051/medsci/20143003014
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- Publication type:
- Article
Les remaniements chromosomiques complexes Un paradigme pour l'étude de l'instabilité chromosomique.
- Published in:
- Médecine Sciences, 2014, v. 30, n. 1, p. 55, doi. 10.1051/medsci/20143001014
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- Article
A Broad Test Based on Fluorescent-Multiplex PCR for Noninvasive Prenatal Diagnosis of Cystic Fibrosis.
- Published in:
- 2019
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- Publication type:
- journal article
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 471, doi. 10.1038/ejhg.2013.189
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- Article
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 136, doi. 10.1038/ejhg.2013.56
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- Publication type:
- Article
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 2, p. 289, doi. 10.1038/ejhg.2013.113
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- Publication type:
- Article
Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 52, doi. 10.1038/ejhg.2013.98
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- Publication type:
- Article
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 580, doi. 10.1038/ejhg.2011.243
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- Publication type:
- Article
Breakpoint mapping and complete analysis of meiotic segregation patterns in three men heterozygous for paracentric inversions.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 1, p. 44, doi. 10.1038/ejhg.2008.144
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- Publication type:
- Article
A 4.6 Mb Inversion Leading to PCDH15 - LINC00844 and BICC1 - PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00623
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- Publication type:
- Article
Congenital Linear Streaks on the Face and Neck and Microphthalmia in an Infant Girl.
- Published in:
- 2014
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- Publication type:
- Case Study
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
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.895
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- Publication type:
- Article
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66923-9
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- Publication type:
- Article
Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report.
- Published in:
- BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0558-8
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- Publication type:
- Article
A Novel Chromosomal Translocation Identified due to Complex Genetic Instability in iPSC Generated for Choroideremia.
- Published in:
- Cells (2073-4409), 2019, v. 8, n. 9, p. 1068, doi. 10.3390/cells8091068
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- Publication type:
- Article
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
- Published in:
- 2019
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- Publication type:
- journal article
Prader-Willi syndrome: is there a recognizable fetal phenotype?
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 9, p. 796, doi. 10.1002/pd.1973
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- Publication type:
- Article
Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 12, p. 1179, doi. 10.1002/pd.1585
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- Publication type:
- Article
Phenotypic and Cytogenetic Variety of Pure Partial Trisomy of Chromosome 16p.
- Published in:
- 2009
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- Publication type:
- Case Study
Molecular and evolutionary characteristics of the fraction of human alpha satellite DNA associated with CENP-A at the centromeres of chromosomes 1, 5, 19, and 21.
- Published in:
- BMC Genomics, 2010, v. 11, p. 195, doi. 10.1186/1471-2164-11-195
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- Publication type:
- Article