Lista de obras - Celia Badenas - Dominio Público Uruguay

A 92,XXXY Miscarriage Consecutive to a Digynic Triploid Pregnancy.

artículo científico publicado en 2016

A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk

artículo científico publicado en 2017

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

artículo científico publicado en 2011

A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).

artículo científico publicado en 2008

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.

artículo científico publicado en 1996

A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.

artículo científico publicado en 1999

A melanoma-associated germline mutation in exon 1beta inactivates p14ARF.

artículo científico publicado en 2001

AURKA Overexpression Is Driven by FOXM1 and MAPK/ERK Activation in Melanoma Cells Harboring BRAF or NRAS Mutations: Impact on Melanoma Prognosis and Therapy

artículo científico publicado en 2017

Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations: a case report.

artículo científico publicado en 2017

Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study.

artículo científico publicado en 2017

Analysis of CGG variation through 642 meioses in Fragile X families.

artículo científico publicado en 2004

Assessment of QF-PCR as the First Approach in Prenatal Diagnosis ⬇️

artículo científico publicado el 1 de octubre de 2010

Association Between Confocal Morphologic Classification and Clinical Phenotypes of Multiple Primary and Familial Melanomas.

artículo científico publicado en 2016

Association between BDNF Val66Met polymorphism and age at onset in Huntington disease.

artículo científico publicado en 2005

Association between dermoscopic and reflectance confocal microscopy features of cutaneous melanoma with BRAF mutational status

artículo científico publicado en 2016

Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion

artículo científico publicado en 2015

Autosomal Dominant Polycystic Kidney Disease Types 1 and 2: Assessment of US Sensitivity for Diagnosis

scientific article published on 01 October 1999

Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation Rapid Communication

scientific article published on 01 July 1997

Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families

scientific article published on 01 March 1999

Autosomal recessive Alport’s syndrome and benign familial hematuria are collagen type IV diseases

artículo científico publicado en 2003

Autosomal recessive polycystic kidney disease presenting in adulthood. Molecular diagnosis of the family

artículo científico publicado en 1998

Benefits of oral Polypodium Leucotomos extract in MM high‐risk patients ⬇️

artículo científico publicado el 31 de julio de 2012

Benefits of total body photography and digital dermatoscopy ("two-step method of digital follow-up") in the early diagnosis of melanoma in patients at high risk for melanoma

artículo científico publicado en 2011

Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain

scientific article published on 25 February 2005

CDKN2A mutations in melanoma families from Uruguay.

artículo científico publicado en 2009

Capturing the biological impact of CDKN2A and MC1R genes as an early predisposing event in melanoma and non melanoma skin cancer

artículo científico publicado en 2014

Characterization of a 5.8-Mb interstitial deletion of chromosome 3p in a girl with 46,XX,inv(7)dn karyotype and phenotypic abnormalities

artículo científico publicado en 2009

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

artículo científico publicado en 2015

Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene.

artículo científico publicado en 2008

Chorionic villus sampling in the prenatal diagnosis of placental mesenchymal dysplasia

artículo científico publicado en 2010

Clinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain.

artículo científico publicado en 2014

Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.

artículo científico publicado en 2007

Cutaneous phenotype andMC1R variants as modifying factors for the development of melanoma inCDKN2A G101W mutation carriers from 4 countries

article

Deletion of the OPHN1 gene detected by aCGH.

artículo científico publicado en 2008

Dermoscopic criteria associated with BRAF and NRAS mutation status in primary cutaneous melanoma.

artículo científico publicado en 2014

Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers.

artículo científico publicado en 2008

Discrepant mutational status between naevi and melanomas in naevus-associated melanomas: about mutation-specific immunohistochemistry: reply from the authors

artículo científico publicado en 2016

Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.

artículo científico publicado en 2013

Elastin mutation screening in a group of patients affected by vascular abnormalities

scientific article published on 01 November 2005

Erratum: Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

artículo científico publicado en 2015

Evaluation of PAX3 genetic variants and nevus number.

artículo científico publicado en 2013

Excision and transposition of Tn5 upon insertion in the hha gene of Escherichia coli

scientific article published on 01 July 1994

Facilitated diagnosis of the contiguous gene syndrome: Tuberous sclerosis and polycystic kidneys by means of haplotype studies

article

Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability

scientific article published on 02 February 2012

Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients.

artículo científico publicado en 2010

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides ⬇️

artículo científico publicado en 1998

Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses.

artículo científico publicado en 2010

Genetic alterations in RAS-regulated pathway in acral lentiginous melanoma

artículo científico publicado en 2013

Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation

artículo científico publicado en 2006

Genetic counseling in melanoma.

artículo científico publicado en 2012

Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection

article

Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.

artículo científico publicado en 2016

Genome-wide linkage analysis in Spanish melanoma-prone families identifies a new familial melanoma susceptibility locus at 11q

article

Genomic Microarray in Fetuses with Early Growth Restriction: A Multicenter Study.

artículo científico publicado en 2016

Hepatoerythropoietic porphyria and familial porphyria cutanea tarda in Spanish patients: G281E mutation in the uroporphyrinogen decarboxylase gene

scientific article published on 01 November 2010

Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.

artículo científico publicado en 2011

Hypertension in Polycystic Kidney Disease Types 1 and 2 and Its Effect on the Age of Onset of End-Stage Renal Disease

artículo científico publicado en 1997

IRF4 rs12203592 functional variant and melanoma survival.

artículo científico publicado en 2017

Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives

artículo científico publicado en 2009

Incidence of fragile X in 5,000 consecutive newborn males.

artículo científico publicado en 2003

Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling.

artículo científico publicado en 2014

Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients

scientific article published on 01 October 2000

Influence of the ACE gene polymorphism in the progression of renal failure in autosomal dominant polycystic kidney disease

article

Isolation and characterization of a Tn5-induced tolQ mutant of Escherichia coli.

artículo científico publicado en 1994

Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation

artículo científico publicado en 2016

Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2.

artículo científico publicado en 1996

Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients

artículo científico publicado en 2000

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.

artículo científico publicado en 2007

Melanocortin 1 receptor (MC1R) polymorphisms' influence on size and dermoscopic features of nevi.

artículo científico publicado en 2017

Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor-suppressor

artículo científico publicado en 2007

Molecular characterization of human cutaneous melanoma-derived cell lines.

artículo científico publicado en 2012

Molecular genetic reports in clinical practice: content and nomenclature of mutations

artículo científico publicado en 2009

Multiple BRAF Wild-Type Melanomas During Dabrafenib Treatment for Metastatic BRAF-Mutant Melanoma.

artículo científico publicado en 2015

Multiple primary acral melanomas in two young caucasian patients

artículo científico publicado en 2014

Mutation of the tumour suppressor p33ING1b is rare in melanoma.

artículo científico publicado en 2006

Mutational analysis within the 3′ region of the PKD1 gene

article

Mutational status of naevus-associated melanomas.

artículo científico publicado en 2015

Mutations and Intragenic Polymorphisms in the Diagnosis of Autosomal Dominant Polycystic Kidney Disease Type 1

artículo científico publicado en 1997

Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria

article

Novel clinical and molecular findings in Spanish patients with Nevoid Basal Cell Carcinoma Syndrome.

artículo científico publicado en 2017

POT1 germline mutations but not TERT promoter mutations are implicated in melanoma susceptibility in a large cohort of Spanish melanoma families

artículo científico publicado en 2019

Parental Origin of the Retained X Chromosome in Monosomy X Miscarriages and Ongoing Pregnancies

artículo científico publicado en 2017

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.

artículo científico publicado en 2009

Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern

artículo científico publicado en 2009

Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom

artículo científico publicado en 2014

Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations

artículo científico publicado en 2015

Prognostic value of tyrosinase reverse transcriptase PCR analysis in melanoma sentinel lymph nodes: long-term follow-up analysis

scientific article published on 05 May 2009

Protocol proposal for Friedreich ataxia molecular diagnosis using fluorescent and triplet repeat primed polymerase chain reaction ⬇️

artículo científico publicado el 1 de noviembre de 2010

Rare variants in the promoter of the fragile X syndrome gene (FMR1)

article

Recombination in a male carrier of two reciprocal translocations involving chromosomes 14, 14′, 15, and 21 leading to balanced and unbalanced rearrangements in offspring

artículo científico publicado en 2005

Reply

artículo científico publicado en 2015

Role of the CDKN2A locus in patients with multiple primary melanomas

artículo científico publicado en 2005

SCA8 in the Spanish population including one homozygous patient

artículo científico publicado en 2002

Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation.

artículo científico publicado en 2006

Serum 25-hydroxyvitamin D3 levels and vitamin D receptor variants in melanoma patients from the Mediterranean area of Barcelona.

artículo científico publicado en 2013

Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease

article

Skewed X Inactivation in Women Carrying the FMR1 Premutation and Its Relation with Fragile-X-Associated Tremor/Ataxia Syndrome

artículo científico publicado en 2015

Sonographic pattern of recessive polycystic kidney disease in young adults. Differences from the dominant form

scientific article published on 01 September 2000

Successful Treatment of Congenital Erythropoietic Porphyria Using Matched Unrelated Hematopoietic Stem Cell Transplantation

artículo científico publicado en 2013

TERT gene amplification is associated with poor outcome in acral lentiginous melanoma

artículo científico publicado en 2014

The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.

artículo científico publicado en 2015

The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.

artículo científico publicado en 2016

Time and tumor type (primary or metastatic) do not influence the detection of BRAF/NRAS mutations in formalin fixed paraffin embedded samples from melanomas.

artículo científico publicado en 2016

Ultrasonographic study of pancreatic cysts in autosomal dominant polycystic kidney disease.

artículo científico publicado en 1997

Update in genetic susceptibility in melanoma

artículo científico publicado en 2015

X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation.

artículo científico publicado en 2007

[Acute intermittent porphyria: Long-term follow up of 35 patients]

scientific article published on 04 September 2014

[Clinical, genetic and molecular studies on autosomal dominant polycystic kidney disease]

artículo científico publicado en 1998

[Heterozygosity loss and somatic mutations in type I and II dominant autosomal renal polycystic kidney disease: evidence of a recessive mechanism at a cell level in cystogenesis]

artículo científico publicado en 2000

[Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes]

article

Avances en el diagnóstico molecular de la enfermedad de Wilson ⬇️

artículo científico publicado el 17 de marzo de 2011

Lista de obras de Celia Badenas

A 92,XXXY Miscarriage Consecutive to a Digynic Triploid Pregnancy.

A Common Variant in the MC1R Gene (p.V92M) is associated with Alzheimer's Disease Risk

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

A comparison of CDKN2A mutation detection within the Melanoma Genetics Consortium (GenoMEL).

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.

A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.

A melanoma-associated germline mutation in exon 1beta inactivates p14ARF.

AURKA Overexpression Is Driven by FOXM1 and MAPK/ERK Activation in Melanoma Cells Harboring BRAF or NRAS Mutations: Impact on Melanoma Prognosis and Therapy

Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations: a case report.

Amelanotic melanoma in oculocutaneous albinism: a genetic, dermoscopic and reflectance confocal microscopy study.

Analysis of CGG variation through 642 meioses in Fragile X families.

Assessment of QF-PCR as the First Approach in Prenatal Diagnosis ⬇️

Association Between Confocal Morphologic Classification and Clinical Phenotypes of Multiple Primary and Familial Melanomas.

Association between BDNF Val66Met polymorphism and age at onset in Huntington disease.

Association between dermoscopic and reflectance confocal microscopy features of cutaneous melanoma with BRAF mutational status

Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion

Autosomal Dominant Polycystic Kidney Disease Types 1 and 2: Assessment of US Sensitivity for Diagnosis

Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation Rapid Communication

Autosomal recessive Alport syndrome: linkage analysis and clinical features in two families

Autosomal recessive Alport’s syndrome and benign familial hematuria are collagen type IV diseases

Autosomal recessive polycystic kidney disease presenting in adulthood. Molecular diagnosis of the family

Benefits of oral Polypodium Leucotomos extract in MM high‐risk patients ⬇️

Benefits of total body photography and digital dermatoscopy ("two-step method of digital follow-up") in the early diagnosis of melanoma in patients at high risk for melanoma

Biochemical and genetic characterization of four cases of hereditary coproporphyria in Spain

CDKN2A mutations in melanoma families from Uruguay.

Capturing the biological impact of CDKN2A and MC1R genes as an early predisposing event in melanoma and non melanoma skin cancer

Characterization of a 5.8-Mb interstitial deletion of chromosome 3p in a girl with 46,XX,inv(7)dn karyotype and phenotypic abnormalities

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene.

Chorionic villus sampling in the prenatal diagnosis of placental mesenchymal dysplasia

Clinical and Histopathological Characteristics between Familial and Sporadic Melanoma in Barcelona, Spain.

Contiguous deletion of the NDP, MAOA, MAOB, and EFHC2 genes in a patient with Norrie disease, severe psychomotor retardation and myoclonic epilepsy.

Cutaneous phenotype andMC1R variants as modifying factors for the development of melanoma inCDKN2A G101W mutation carriers from 4 countries

Deletion of the OPHN1 gene detected by aCGH.

Dermoscopic criteria associated with BRAF and NRAS mutation status in primary cutaneous melanoma.

Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers.

Discrepant mutational status between naevi and melanomas in naevus-associated melanomas: about mutation-specific immunohistochemistry: reply from the authors

Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.

Elastin mutation screening in a group of patients affected by vascular abnormalities

Erratum: Corrigendum: A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Evaluation of PAX3 genetic variants and nevus number.

Excision and transposition of Tn5 upon insertion in the hha gene of Escherichia coli

Facilitated diagnosis of the contiguous gene syndrome: Tuberous sclerosis and polycystic kidneys by means of haplotype studies

Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability

Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients.

Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides ⬇️

Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses.

Genetic alterations in RAS-regulated pathway in acral lentiginous melanoma

Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation

Genetic counseling in melanoma.

Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection

Genetic susceptibility to cutaneous melanoma in southern Switzerland: role of CDKN2A, MC1R and MITF.

Genome-wide linkage analysis in Spanish melanoma-prone families identifies a new familial melanoma susceptibility locus at 11q

Genomic Microarray in Fetuses with Early Growth Restriction: A Multicenter Study.

Hepatoerythropoietic porphyria and familial porphyria cutanea tarda in Spanish patients: G281E mutation in the uroporphyrinogen decarboxylase gene

Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.

Hypertension in Polycystic Kidney Disease Types 1 and 2 and Its Effect on the Age of Onset of End-Stage Renal Disease

IRF4 rs12203592 functional variant and melanoma survival.

Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives

Incidence of fragile X in 5,000 consecutive newborn males.

Increased prevalence of lung, breast, and pancreatic cancers in addition to melanoma risk in families bearing the cyclin-dependent kinase inhibitor 2A mutation: implications for genetic counseling.

Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients

Influence of the ACE gene polymorphism in the progression of renal failure in autosomal dominant polycystic kidney disease

Isolation and characterization of a Tn5-induced tolQ mutant of Escherichia coli.

Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation

Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2.

Loss of heterozygosity in renal and hepatic epithelial cystic cells from ADPKD1 patients

MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.

Melanocortin 1 receptor (MC1R) polymorphisms' influence on size and dermoscopic features of nevi.

Molecular characterization of a t(9;12)(p21;q13) balanced chromosome translocation in combination with integrative genomics analysis identifies C9orf14 as a candidate tumor-suppressor

Molecular characterization of human cutaneous melanoma-derived cell lines.

Molecular genetic reports in clinical practice: content and nomenclature of mutations

Multiple BRAF Wild-Type Melanomas During Dabrafenib Treatment for Metastatic BRAF-Mutant Melanoma.

Multiple primary acral melanomas in two young caucasian patients

Mutation of the tumour suppressor p33ING1b is rare in melanoma.

Mutational analysis within the 3′ region of the PKD1 gene

Mutational status of naevus-associated melanomas.

Mutations and Intragenic Polymorphisms in the Diagnosis of Autosomal Dominant Polycystic Kidney Disease Type 1

Mutations in theCOL4A4 and COL4A3 genes cause familial benign hematuria