List of works - Celia Badenas

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

scientific article published on 22 September 2016

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

scientific article published on 3 December 2017

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

scientific article

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

scientific article published on 3 April 2008

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

scientific article published in October 1996

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

scientific article

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

scientific article

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

scientific article published on 7 February 2017

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

scientific article

Advances in the molecular diagnosis of Wilson's disease ⬇️

scientific article published on March 17, 2011

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

scientific article published on 27 May 2017

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

scientific article published on 20 August 2004

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

scientific article published on October 1, 2010

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

scientific article

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

scientific article published in September 2005

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

scientific article published on 28 October 2016

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

scientific article published on 5 August 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

scientific article published on 01 November 2003

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

scientific article published on 01 May 1998

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

scientific article published on July 31, 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

scientific article published on 16 June 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.

scientific article

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

scientific article (publication date: 30 March 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

scientific article published on 27 October 2009

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

scientific article published on 17 December 2015

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

scientific article published on 6 May 2008

Chorionic villus sampling in the prenatal diagnosis of placental mesenchymal dysplasia

scientific article published on 01 November 2010

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

scientific article

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

scientific article

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.

scientific article published in March 2008

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

scientific article published on 10 September 2014

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

scientific article published on 15 September 2008

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

scientific article published on 16 June 2016

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

scientific article published on October 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

scientific article published in Nature

Evaluation of PAX3 genetic variants and nevus number.

scientific article published on 4 July 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.

scientific article published in March 2010

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

scientific article

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

scientific article published on 16 June 2010

Genetic alterations in RAS-regulated pathway in acral lentiginous melanoma

scientific article published on February 2013

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

scientific article published on 01 August 2006

Genetic counseling in melanoma.

scientific article

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.

scientific article published on 30 July 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.

scientific article

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.

scientific article published on 18 August 2011

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

scientific article published on 01 January 1997

IRF4 rs12203592 functional variant and melanoma survival.

scientific article published on 19 January 2017

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

scientific article

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

scientific article published in January 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.

scientific article

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.

scientific article

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

scientific article published on 11 August 2016

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

scientific article published in October 1996

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

scientific article published on 01 July 2000

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

scientific article published in February 2007

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

scientific article published on 26 September 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

scientific article published in February 2007

Molecular characterization of human cutaneous melanoma-derived cell lines.

scientific article

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

scientific article published on 22 October 2009

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

scientific article published on May 2015

Multiple primary acral melanomas in two young caucasian patients

scientific article published on 13 June 2014

Mutation of the tumour suppressor p33ING1b is rare in melanoma.

scientific article published on July 2006

Mutational analysis within the 3′ region of the PKD1 gene

article

Mutational status of naevus-associated melanomas.

scientific article

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

scientific article published on 01 January 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.

scientific article

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

scientific article published on 27 February 2019

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

scientific article published on 5 October 2017

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

scientific article

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

scientific article published in September 2009

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

scientific article

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

scientific article published on 9 December 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 ⬇️

scientific article published on November 1, 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

scientific article published on 01 April 2005

Reply

scientific article published on 12 December 2015

Role of the CDKN2A locus in patients with multiple primary melanomas

scientific article published on May 2005

SCA8 in the Spanish population including one homozygous patient

scientific article published on 01 November 2002

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

scientific article published in August 2006

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

scientific article

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

scientific article published on 27 November 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

scientific article published on 05 April 2013

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

scientific article

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

scientific article published on 13 March 2015

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

scientific article published on 6 December 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.

scientific article

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

scientific article

Update in genetic susceptibility in melanoma

scientific article

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

scientific article

[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]

scientific article published on 01 April 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]

scientific article published on 01 March 2000

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

article

List of works by 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.

Advances in the molecular diagnosis of Wilson's disease ⬇️

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