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Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion

American journal of medical genetics. Part A, 2014-05, Vol.164A (5), p.1170-1174

2014

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Mechanisms of structural chromosomal rearrangement formation

Molecular cytogenetics, 2022-06, Vol.15 (1), p.23-23, Article 23

2022

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Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p

Human genomics, 2024-06, Vol.18 (1), p.64-8

2024

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Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes

European journal of human genetics : EJHG, 2019-05, Vol.27 (5), p.760-771

2019

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Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocations

Epigenetics & chromatin, 2023-05, Vol.16 (1), p.19-19, Article 19

2023

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X-Chromosome Dependent Differences in the Neuronal Molecular Signatures and Their Implications in Sleep Patterns

Sleep medicine clinics, 2023-12, Vol.18 (4), p.521-531

2023

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Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables

Genes, 2024-05, Vol.15 (5), p.595

2024

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X-linked intellectual disability related genes disrupted by balanced X-autosome translocations

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2015-12, Vol.168B (8), p.669-677

2015

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Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome

Genes, 2024-02, Vol.15 (2), p.211

2024

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Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations

Fertility and sterility, 2015-05, Vol.103 (5), p.1289-1296.e2

2015

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Allan-Herndon-Dudley syndrome in a female patient and related mechanisms

Molecular genetics and metabolism reports, 2022-06, Vol.31, p.100879, Article 100879

2022

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Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern

Frontiers in genetics, 2021-09, Vol.12, p.724625-724625

2021

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Identification of IL11RA and MELK amplification in gastric cancer by comprehensive genomic profiling of gastric cancer cell lines

World journal of gastroenterology : WJG, 2016-11, Vol.22 (43), p.9506-9514

2016

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Copy number variation (CNV) identification, interpretation, and database from Brazilian patients

Genetics and molecular biology, 2020-01, Vol.43 (4), p.e20190218-e20190218

2020

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Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature

Molecular genetics & genomic medicine, 2019-12, Vol.7 (12), p.e997-n/a

2019

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Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)

Molecular genetics & genomic medicine, 2019-10, Vol.7 (10), p.e00959-n/a

2019

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Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience

Clinics (São Paulo, Brazil), 2017-10, Vol.72 (9), p.526-537

2017

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Linkage replication for chromosomal region 13q32 in schizophrenia: evidence from a Brazilian pilot study on early onset schizophrenia families

PloS one, 2012-12, Vol.7 (12), p.e52262-e52262

2012

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Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale

Estudos de Psicologia (Campinas), 2019, Vol.36

2019

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Candidate genes for schizophrenia in a mixed Brazilian population using pooled DNA

Psychiatry research, 2013-07, Vol.208 (2), p.201-202

2013

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Genetics of premature ovarian insufficiency and the association with X-autosome translocations

Reproduction (Cambridge, England), 2020-10, Vol.160 (4), p.R55-R64

2020

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The UFD1L rs5992403 polymorphism is associated with age at onset of schizophrenia

Journal of psychiatric research, 2010-11, Vol.44 (15), p.1113-1115

2010

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Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome

Genetics Research, 2024, Vol.2024, p.5549592-9

2024

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Pure duplication 1q41‐qter: Further delineation of trisomy 1q syndromes

American journal of medical genetics. Part A, 2008-10, Vol.146A (20), p.2663-2667

2008

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Response to Bassett et al

American journal of human genetics, 2023-07, Vol.110 (7), p.1219-1220

2023

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Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion

Mechanisms of structural chromosomal rearrangement formation

Next-generation sequencing profiling of miRNAs in individuals with 22q11.2 deletion syndrome revealed altered expression of miR-185-5p

Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes

Premature ovarian insufficiency is associated with global alterations in the regulatory landscape and gene expression in balanced X-autosome translocations

X-Chromosome Dependent Differences in the Neuronal Molecular Signatures and Their Implications in Sleep Patterns

Neuropsychological Profile of 25 Brazilian Patients with 22q11.2 Deletion Syndrome: Effects of Clinical and Socioeconomic Variables

X-linked intellectual disability related genes disrupted by balanced X-autosome translocations

Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome

Genetic mechanisms leading to primary amenorrhea in balanced X-autosome translocations

Allan-Herndon-Dudley syndrome in a female patient and related mechanisms

Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern

Identification of IL11RA and MELK amplification in gastric cancer by comprehensive genomic profiling of gastric cancer cell lines

Copy number variation (CNV) identification, interpretation, and database from Brazilian patients

Malan syndrome in a patient with 19p13.2p13.12 deletion encompassing NFIX and CACNA1A genes: Case report and review of the literature

Rare single‐nucleotide variants in oculo‐auriculo‐vertebral spectrum (OAVS)

Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience

Linkage replication for chromosomal region 13q32 in schizophrenia: evidence from a Brazilian pilot study on early onset schizophrenia families

Intellectual performance profi le of a sample of children and adolescents from Brazil with 22q11.2 Deletion Syndrome (22q11.2DS) based on the Wechsler Scale

Candidate genes for schizophrenia in a mixed Brazilian population using pooled DNA

Genetics of premature ovarian insufficiency and the association with X-autosome translocations

The UFD1L rs5992403 polymorphism is associated with age at onset of schizophrenia

Variants in Candidate Genes for Phenotype Heterogeneity in Patients with the 22q11.2 Deletion Syndrome

Pure duplication 1q41‐qter: Further delineation of trisomy 1q syndromes

Response to Bassett et al

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