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Two novel pathogenic variants in MED13L: one familial and one isolated case

Journal of intellectual disability research, 2021-12, Vol.65 (12), p.1049-1057

2021

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Genomic imbalances associated with müllerian aplasia

Journal of medical genetics, 2008-04, Vol.45 (4), p.228-232

2008

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Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors

Molecular cytogenetics, 2016-02, Vol.9 (21), p.20-20, Article 20

2016

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Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

Journal of medical genetics, 2006-02, Vol.43 (2), p.180-186

2006

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Stability of XIST repression in relation to genomic imprinting following global genome demethylation in a human cell line

Brazilian journal of medical and biological research, 2014-12, Vol.47 (12), p.1029-1035

2014

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A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Journal of medical genetics, 2012-02, Vol.49 (2), p.104-109

2012

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Genomic copy number alterations in non-syndromic hearing loss

Clinical genetics, 2016-04, Vol.89 (4), p.473-477

2016

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Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome

Clinical genetics, 2010-04, Vol.77 (4), p.404-407

2010

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3311 Germline mutations and rare copy number variations in melanoma-prone patients

European journal of cancer (1990), 2015-09, Vol.51, p.S668-S668

2015

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Complex Phenotype Associated with 17q21.31 Microdeletion

Molecular syndromology, 2013-09, Vol.4 (6), p.297-301

2013

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Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

Cytogenetic and genome research, 2006-01, Vol.115 (3-4), p.254-261

2006

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High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation

Journal of medical genetics, 2008-07, Vol.45 (7), p.447-450

2008

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Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1

Cytogenetic and genome research, 2009-01, Vol.125 (1), p.1-7

2009

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A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient

Cytogenetic and genome research, 2006-01, Vol.114 (1), p.89-92

2006

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Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Journal of medical genetics, 2008-11, Vol.45 (11), p.710-720

2008

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Novel breast cancer predisposing candidate genes identified in Brazilian families with hereditary breast cancer

European journal of cancer (1990), 2022-11, Vol.175, p.S39

2022

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Chromosome imbalances in syndromic hearing loss

Clinical genetics, 2009-11, Vol.76 (5), p.458-464

2009

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The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations

Orphanet journal of rare diseases, 2014-04, Vol.9 (1), p.63-63

2014

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Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B

British journal of haematology, 2001-06, Vol.113 (3), p.616-620

2001

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X chromosome-inactivation patterns in patients with Rett syndrome

Human genetics, 1998-03, Vol.102 (3), p.319-321

1998

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Stability of XIST repression in relation to genomic imprinting following global genome demethylation in a human cell line

Brazilian journal of medical and biological research, 2014-10, p.0

2014

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Genomic imbalances associated with muellerian aplasia

Journal of medical genetics, 2008-04, Vol.45 (4), p.228-232

2008

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An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array‐CGH) defines a new locus (FGS5) for FG syndrome

American journal of medical genetics. Part A, 2005-12, Vol.139A (3), p.221-226

2005

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Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

Cytogenetic and genome research, 2006-01, Vol.112 (1-2), p.254

2006

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Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

Scientific reports, 2022-09, Vol.12 (1), p.15184-15184, Article 15184

2022

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Two novel pathogenic variants in MED13L: one familial and one isolated case

Genomic imbalances associated with müllerian aplasia

Genomic imbalances pinpoint potential oncogenes and tumor suppressors in Wilms tumors

Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents

Stability of XIST repression in relation to genomic imprinting following global genome demethylation in a human cell line

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features

Genomic copy number alterations in non-syndromic hearing loss

Deletions encompassing 1q41q42.1 and clinical features of autosomal dominant Robinow syndrome

3311 Germline mutations and rare copy number variations in melanoma-prone patients

Complex Phenotype Associated with 17q21.31 Microdeletion

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation

Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1

A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Novel breast cancer predisposing candidate genes identified in Brazilian families with hereditary breast cancer

Chromosome imbalances in syndromic hearing loss

The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations

Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B

X chromosome-inactivation patterns in patients with Rett syndrome

Stability of XIST repression in relation to genomic imprinting following global genome demethylation in a human cell line

Genomic imbalances associated with muellerian aplasia

An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array‐CGH) defines a new locus (FGS5) for FG syndrome

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil

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