Lista de obras - Débora R Bertola - Dominio Público Uruguay

5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects

artículo científico publicado en 2011

A DominantABCC8-Related Hyperinsulinism: Familial Case ReportMoreiraet al.ABCC8-Related Hyperinsulinism

artículo científico publicado en 2013

A Known SOST Gene Mutation Causes Sclerosteosis in a Familial and an Isolated Case from Brazilian Origin

article

A Possible Role of Different PTPN Genes in Immune Regulation

article

A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate.

artículo científico publicado en 2013

A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.

artículo científico publicado en 2006

A subcranial Le Fort III advancement with distraction osteogenesis as a clinical strategy to approach pycnodysostosis with midface retrusion and exorbitism.

artículo científico publicado en 2013

AEC Syndrome and CHAND Syndrome: Further Evidence of Clinical Overlapping in the Ectodermal Dysplasias

artículo científico publicado en 2000

Additional thoughts about juvenile hyaline fibromatosis and infantile systemic hyalinosis

artículo científico publicado en 2012

An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.

artículo científico publicado en 2007

Angiokeratoma: a cutaneous marker of Fabry’s disease

article

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

artículo científico publicado en 2008

Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies

artículo científico publicado en 2012

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

artículo científico publicado en 2014

Brachyolmia with amelogenesis imperfecta: Further evidence of a distinct entity

article

CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene.

artículo científico publicado en 2005

Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation

artículo científico

Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia.

artículo científico publicado en 2016

Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.

artículo científico publicado en 2004

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

artículo científico publicado en 2010

Cockayne syndrome type A: novel mutations in eight typical patients.

artículo científico publicado en 2006

Congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome due to a 6p deletion

artículo científico publicado en 2014

Corrigendum to "Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA".

artículo científico publicado en 2015

Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities

article

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome.

artículo científico publicado en 2015

Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.

artículo científico publicado en 2011

Friedreich's ataxia: cardiac evaluation of 25 patients with clinical diagnosis and literature review.

artículo científico publicado en 2002

Further delineation of Char syndrome

artículo científico publicado en 2000

Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.

artículo científico publicado en 2007

Further evidence of the importance of RIT1 in Noonan syndrome.

artículo científico publicado en 2014

Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies

article

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.

artículo científico publicado en 2014

Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.

artículo científico publicado en 2012

Hematological findings in Noonan syndrome

artículo científico publicado en 2003

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice

artículo científico publicado en 2011

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 g

article

Hyaline fibromatosis syndrome: new unifying term and surgical approach

artículo científico publicado en 2012

Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis

artículo científico publicado en 2004

IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population

article

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system

artículo científico publicado en 2012

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes

artículo científico publicado en 2014

KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis

article

Lipoid proteinosis: Rare case confirmed by ECM1 mutation detection

scientific article published on 02 October 2014

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency

artículo científico publicado en 2016

MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.

artículo científico publicado en 2009

Menkes disease: importance of diagnosis with molecular analysis in the neonatal period

artículo científico publicado en 2015

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.

artículo científico publicado en 2011

Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement

article

Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries

scientific article published on 16 March 2015

Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?

article

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

scientific journal article

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy

artículo científico publicado en 2014

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

artículo científico publicado en 2012

Mutations in the human UBR1 gene and the associated phenotypic spectrum

artículo científico

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

artículo científico publicado en 2015

Mutations inLONP1, a mitochondrial matrix protease, cause CODAS syndrome

artículo científico publicado en 2015

Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient

article

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.

artículo científico publicado en 2008

Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile

scientific article published on 31 December 2020

Nutritional aspects of Noonan syndrome and Noonan-related disorders.

artículo científico publicado en 2016

Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants

artículo científico publicado en 2013

Ocular manifestations of Noonan syndrome

artículo científico publicado en 2011

PTPN11 Gene Analysis in 74 Brazilian Patients with Noonan Syndrome or Noonan-like Phenotype

article

PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.

artículo científico publicado en 2010

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

artículo científico publicado en 2002

Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil

scientific article published on 31 October 2020

Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.

artículo científico publicado en 2007

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.

artículo científico publicado en 2017

Post-mortem cytogenomic investigations in patients with congenital malformations

artículo científico publicado en 2016

Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems

artículo científico publicado en 2006

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

artículo científico publicado en 2015

Recurrence of frontometaphyseal dysplasia in two sisters with a mutation inFLNAand an atypical paternal phenotype: Insights into genotype-phenotype correlation

artículo científico publicado en 2015

Richieri-Costa-Pereira syndrome: expanding its phenotypic and genotypic spectrum

artículo científico publicado en 2017

Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings

artículo científico publicado en 2016

Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up

artículo científico publicado en 2015

Spondylocostal dysostosis associated with methylmalonic aciduria

artículo científico publicado en 2009

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.

artículo científico publicado en 2016

Systemic hyalinosis: new terminology, severity grading system, and surgical approach

artículo científico publicado en 2012

Tegumentary manifestations of Noonan and Noonan-related syndromes.

artículo científico publicado en 2013

The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.

artículo científico publicado en 2013

The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.

artículo científico publicado en 2017

Two distinct regions in 2q24.2-q24.3 associated with idiopathic epilepsy.

artículo científico publicado en 2010

Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries.

artículo científico publicado en 2011

Vertical transmission of a frontonasal phenotype caused by a novelALX4mutation

article

Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.

artículo científico publicado en 2016

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

artículo científico publicado en 2006

Wiedemann-Rautenstrauch syndrome: A phenotype analysis.

artículo científico publicado en 2017

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA.

artículo científico publicado en 2015

Lista de obras de Débora R Bertola

5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects

A DominantABCC8-Related Hyperinsulinism: Familial Case ReportMoreiraet al.ABCC8-Related Hyperinsulinism

A Known SOST Gene Mutation Causes Sclerosteosis in a Familial and an Isolated Case from Brazilian Origin

A Possible Role of Different PTPN Genes in Immune Regulation

A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate.

A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.

A subcranial Le Fort III advancement with distraction osteogenesis as a clinical strategy to approach pycnodysostosis with midface retrusion and exorbitism.

AEC Syndrome and CHAND Syndrome: Further Evidence of Clinical Overlapping in the Ectodermal Dysplasias

Additional thoughts about juvenile hyaline fibromatosis and infantile systemic hyalinosis

An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses.

Angiokeratoma: a cutaneous marker of Fabry’s disease

Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Brachyolmia with amelogenesis imperfecta: Further evidence of a distinct entity

CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene.

Case report. Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation

Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia.

Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

Cockayne syndrome type A: novel mutations in eight typical patients.

Congenital adrenal hyperplasia, ovarian failure and Ehlers-Danlos syndrome due to a 6p deletion

Corrigendum to "Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA".

Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome.

Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.

Friedreich's ataxia: cardiac evaluation of 25 patients with clinical diagnosis and literature review.

Further delineation of Char syndrome

Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.

Further evidence of the importance of RIT1 in Noonan syndrome.

Genetic contribution for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies

Genome-wide screening of copy number variants in children born small for gestational age reveals several candidate genes involved in growth pathways.

Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway.

Hematological findings in Noonan syndrome

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice

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 g

Hyaline fibromatosis syndrome: new unifying term and surgical approach

Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis

IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population

Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system

Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes

KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis

Lipoid proteinosis: Rare case confirmed by ECM1 mutation detection

Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency

MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported.

Menkes disease: importance of diagnosis with molecular analysis in the neonatal period

Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome.

Mucopolysaccharidosis type IVA: Evidence of primary and secondary central nervous system involvement

Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries

Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

Mutations in the human UBR1 gene and the associated phenotypic spectrum

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.

Mutations inLONP1, a mitochondrial matrix protease, cause CODAS syndrome

Neurofibromatosis-Noonan syndrome: Molecular evidence of the concurrence of both disorders in a patient

New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.

Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile

Nutritional aspects of Noonan syndrome and Noonan-related disorders.

Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants

Ocular manifestations of Noonan syndrome

PTPN11 Gene Analysis in 74 Brazilian Patients with Noonan Syndrome or Noonan-like Phenotype

PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity

Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil

Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients.

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.

Post-mortem cytogenomic investigations in patients with congenital malformations

Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

Recurrence of frontometaphyseal dysplasia in two sisters with a mutation inFLNAand an atypical paternal phenotype: Insights into genotype-phenotype correlation

Richieri-Costa-Pereira syndrome: expanding its phenotypic and genotypic spectrum

Short Communication Impact of early enzyme-replacement therapy for mucopolysaccharidosis VI: results of a long-term follow-up of Brazilian siblings

Six additional cases of SEDC due to the same and recurrent R989C mutation in the COL2A1 gene--the clinical and radiological follow-up

Spondylocostal dysostosis associated with methylmalonic aciduria

Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.

Systemic hyalinosis: new terminology, severity grading system, and surgical approach

Tegumentary manifestations of Noonan and Noonan-related syndromes.