Works matching AU Guerneri, Silvana
Results: 35
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
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- Human Mutation, 2019, v. 40, n. 2, p. 193, doi. 10.1002/humu.23683
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- Article
Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro‐deletion involving CNTNAP5.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 3071, doi. 10.1002/ajmg.a.61881
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- Article
STAR syndrome plus: The first description of a female patient with the lethal form.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 12, p. 3226, doi. 10.1002/ajmg.a.38484
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- Article
Cytogenetic mapping of a novel locus for type II Waardenburg syndrome.
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- Human Genetics, 2002, v. 110, n. 1, p. 64, doi. 10.1007/s00439-001-0643-9
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- Article
The Core Stem Genes SOX2 , POU5F1/OCT4 , and NANOG Are Expressed in Human Parathyroid Tumors and Modulated by MEN1 , YAP1 , and β-catenin Pathways Activation.
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- Biomedicines, 2021, v. 9, n. 6, p. 637, doi. 10.3390/biomedicines9060637
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- Article
Prenatal confirmation of trisomy 12 mosaicism by fetal skin biopsy.
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- 1993
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- journal article
The Oncosuppressors MEN1 and CDC73 Are Involved in lncRNA Deregulation in Human Parathyroid Tumors.
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- Journal of Bone & Mineral Research, 2020, v. 35, n. 12, p. 2423, doi. 10.1002/jbmr.4154
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- Article
Insights into 6q21-q22: Refinement of the critical region for acro-cardio-facial syndrome.
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- Congenital Anomalies, 2016, v. 56, n. 4, p. 187, doi. 10.1111/cga.12164
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- Article
Tetrasomy 18p: The challenges of noninvasive prenatal testing and combined test.
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- Journal of Obstetrics & Gynaecology Research, 2019, v. 45, n. 3, p. 705, doi. 10.1111/jog.13873
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- Article
Cytogenetic study in primary myelofibrosis at diagnosis: Clinical and histological association and impact on survival according to WHO 2017 classification in an Italian multicenter series.
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- Hematological Oncology, 2021, v. 39, n. 1, p. 123, doi. 10.1002/hon.2808
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- Article
HOXA genes cluster: clinical implications of the smallest deletion.
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- Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 1, doi. 10.1186/s13052-015-0137-3
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- Article
Discordant prenatal phenotype and karyotype of monozygotic twins characterized by the unequal distribution of two cell lines investigated by different methods: a review.
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- 2008
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- journal article
Yes-Associated Protein 1 Is a Novel Calcium Sensing Receptor Target in Human Parathyroid Tumors.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2016, doi. 10.3390/ijms22042016
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- Article
Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.
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- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0470-z
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- Article
Positive predictive values and outcomes for uninformative cell‐free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
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- Prenatal Diagnosis, 2022, v. 42, n. 13, p. 1575, doi. 10.1002/pd.6271
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- Article
Family history is key to the interpretation of exome sequencing in the prenatal context: unexpected diagnosis of Basal Cell Nevus Syndrome.
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- Prenatal Diagnosis, 2022, v. 42, n. 7, p. 927, doi. 10.1002/pd.6171
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- Article
Author's reply regarding 'Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome'.
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- Prenatal Diagnosis, 2013, v. 33, n. 3, p. 303, doi. 10.1002/pd.4046
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- Article
Confined placental mosaicism at chorionic villous sampling: risk factors and pregnancy outcome.
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- Prenatal Diagnosis, 2012, v. 32, n. 11, p. 1102, doi. 10.1002/pd.3965
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- Article
De novo balanced chromosome rearrangements in prenatal diagnosis.
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- Prenatal Diagnosis, 2009, v. 29, n. 3, p. 257, doi. 10.1002/pd.2215
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- Article
Expanding the phenotype of 22q13.3 deletion: report of a case detected prenatally.
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- Prenatal Diagnosis, 2008, v. 28, n. 10, p. 978, doi. 10.1002/pd.2110
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- Article
Limited value of echography to predict true fetal mosaicism for trisomy 12.
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- Prenatal Diagnosis, 2006, v. 26, n. 12, p. 1186, doi. 10.1002/pd.1587
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- Article
Molecular and transcriptional characterization of the novel 17p11.2-p12 amplicon in multiple myeloma.
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- Genes, Chromosomes & Cancer, 2007, v. 46, n. 12, p. 1109, doi. 10.1002/gcc.20494
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- Article
Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes.
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- Molecular Cytogenetics (17558166), 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8166-6-45
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- Article
Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi.
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- Epigenetics, 2015, v. 10, n. 7, p. 643, doi. 10.1080/15592294.2015.1057383
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- Article
Familial Duplication/Deletion of 1q42.13q43 as Meiotic Consequence of an Intrachromosomal Insertion in Chromosome 1.
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- 2018
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- Case Study
Comprehensive Molecular Analyses in a Case of Masked Philadelphia Chronic Myeloid Leukemia.
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- Cytogenetic & Genome Research, 2016, v. 147, n. 1, p. 35, doi. 10.1159/000442039
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- Article
Delineating the Mosaic Trisomy 15 Phenotype Using a Serendipitous Mechanism as a Clue.
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- Cytogenetic & Genome Research, 2015, v. 146, n. 1, p. 44, doi. 10.1159/000435796
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- Article
Prevalence and distribution of chromosome abnormalities in a sample of first trimester internal abortions.
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- Human Reproduction, 1987, v. 2, n. 8, p. 735
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- Article
Evidence of Distinct Tumour-Propagating Cell Populations with Different Properties in Primary Human Hepatocellular Carcinoma.
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- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0021369
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- Article
Molecular cytogenetic characterization of a 2q35-q37 duplication and a 4q35.1-q35.2 deletion in two cousins: A genotype-phenotype analysis.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1551, doi. 10.1002/ajmg.a.37063
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- Article
Partial Trisomy of 7q: Case Report and Literature Review.
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- Journal of Child Neurology, 2008, v. 23, n. 5, p. 572, doi. 10.1177/0883073807309776
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- Article
De Novo Duplication of Chromosome 13(q32-q34) in a Child With Developmental Delay.
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- Journal of Child Neurology, 2006, v. 21, n. 12, p. 1084, doi. 10.1177/7010.2006.00229
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- Article
Incidental finding of APC deletion in a child: double trouble or double chance? – a case report.
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- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-00969-x
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- Article
Correction to: Incidental finding of APC deletion in a child: double trouble or double chance? – a case report.
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- 2021
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- Publication type:
- Correction Notice
Incidental finding of APC deletion in a child: double trouble or double chance? – a case report.
- Published in:
- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-00969-x
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- Publication type:
- Article