C. Badenas

C. Badenas, A. Nadal, M. Illa, 2010, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

A 92,XXXY Miscarriage Consecutive to a Digynic Triploid Pregnancy

C. Badenas, I. Madrigal, Aurora Sánchez, 2016, Cytogenetic and Genome Research.

Maternal plasma genome-wide cell-free DNA can detect fetal aneuploidy in early and recurrent pregnancy loss and can be used to direct further workup

C. Badenas, M. Pauta, Y. Yaron, 2020, Human reproduction.

A New Stepwise Molecular Work-Up After Chorionic Villi Sampling in Women With an Early Pregnancy Loss

C. Badenas, M. Pauta, L. Rodriguez-Revenga, 2021, Frontiers in Genetics.

The Contribution of QF-PCR and Pathology Studies in the Diagnosis of Diandric Triploidy/Partial Mole

C. Badenas, M. Pauta, A. Nadal, 2021, Diagnostics.

Assessment of QF-PCR as the first approach in prenatal diagnosis.

C. Badenas, M. Milá, L. Rodriguez-Revenga, 2010, The Journal of molecular diagnostics : JMD.

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

F. Martínez, C. Badenas, M. Milá, 2007, Genetics in Medicine.

A Retrospective and Theoretical Evaluation of Rapid Methods for Detecting Chromosome Abnormalities and Their Implications on Genetic Counseling Based on a Series of 3868 CVS Diagnoses

C. Badenas, M. Milá, L. Rodriguez-Revenga, 2007, Fetal Diagnosis and Therapy.

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

C. Badenas, A. Juárez, C. Madrid, 1994, Canadian journal of microbiology.

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

F. Figueras, C. Badenas, L. Rodriguez-Revenga, 2016, Fetal Diagnosis and Therapy.

Maternal Serum Genome-Wide Cell-Free DNA Testing Detects Fetal Aneuploidy in Early and Recurrent Pregnancy Loss

C. Badenas, M. Pauta, Y. Yaron, 2019, SSRN Electronic Journal.

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria.

C. Beaumont, C. Ged, S. Ducamp, 2011, Blood.

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

C. Badenas, M. Milá, A. Sánchez, 2010, Reproductive biomedicine online.

DNA Repair and Immune Response Pathways Are Deregulated in Melanocyte-Keratinocyte Co-cultures Derived From the Healthy Skin of Familial Melanoma Patients

J. Malvehy, S. Puig, S. Llames, 2021, Frontiers in Medicine.

Acquired Erythropoietic Uroporphyria secondary to Myeloid Malignancy: case report and literature review.

C. Badenas, P. Aguilera, J. To-Figueras, 2021, Photodermatology, photoimmunology & photomedicine.

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

C. Badenas, M. Milá, M. Lecha, 2006, Journal of Inherited Metabolic Disease.

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

C. Badenas, P. Aguilera, J. To-Figueras, 2016, The British journal of dermatology.

Transcriptomic study in explanted liver from a patient with acute intermittent porphyria

C. Badenas, C. Fondevila, I. Madrigal, 2022, JIMD reports.

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

C. Badenas, C. Herrero, P. Aguilera, 2015, Medicina clinica.

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

C. Badenas, C. Herrero, J. To-Figueras, 2010, Archives of dermatology.

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

C. Badenas, C. Herrero, J. To-Figueras, 2009, Clinical genetics.

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

G. Emri, I. Horkay, C. Badenas, 2008, Clinical and experimental dermatology.

Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.

C. Badenas, M. Méndez, M. Lecha, 2007, Archives of dermatology.

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

J. Malvehy, S. Puig, C. Badenas, 2018, Pigment cell & melanoma research.

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.

Josep Malvehy, Susana Puig, Cristina Carrera, 2012, Journal of the American Academy of Dermatology.

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

J. Malvehy, S. Puig, C. Badenas, 2013, The British journal of dermatology.

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

J. Malvehy, S. Puig, C. Badenas, 2015, JAMA dermatology.

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

X. Estivill, P. Harris, R. Torra, 1998, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Synchronous primary cutaneous melanomas: a descriptive study of their clinical features, histology, genetic background of the patients and clinical outcomes

J. Malvehy, S. Puig, C. Badenas, 2022, Journal of the European Academy of Dermatology and Venereology : JEADV.

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

J. Malvehy, S. Puig, J. Farnham, 2018, European Journal of Human Genetics.

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

J. Malvehy, S. Puig, C. Badenas, 2009, Clinical and experimental dermatology.

Molecular characterization of human cutaneous melanoma-derived cell lines.

J. Malvehy, S. Puig, C. Badenas, 2012, Anticancer research.

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

A. Lallas, G. Argenziano, C. Longo, 2017, Journal of the European Academy of Dermatology and Venereology : JEADV.

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

J. Malvehy, S. Puig, C. Badenas, 2016, JAMA dermatology.

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

J. Malvehy, S. Puig, M. Marti, 2015, Annals of neurology.

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

X. Estivill, M. James, J. Malvehy, 2007, Genes, chromosomes & cancer.

Linkage analysis in Spanish families with nonspecific X-linked mental retardation: Significant linkage at Xq13-q21.

X. Estivill, V. Volpini, C. Badenas, 2001, American journal of medical genetics.

46,XY,18q+/46,XY,18q− mosaicism in a fragile X prenatal diagnosis

C. Badenas, M. Milá, L. Rodriguez-Revenga, 2005, Prenatal diagnosis.

Autosomal dominant polycystic kidney disease types 1 and 2: assessment of US sensitivity for diagnosis.

R. Torra, C. Badenas, A. Darnell, 1999, Radiology.

Characterization of a 5.8-Mb Interstitial Deletion of Chromosome 3p in a Girl with 46,XX,inv(7)dn Karyotype and Phenotypic Abnormalities

L. Armengol, C. Badenas, M. Milá, 2009, Cytogenetic and Genome Research.

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

J. Malvehy, S. Puig, C. Badenas, 2009, The British journal of dermatology.

Dermoscopy comparative approach for early diagnosis in familial melanoma: influence of MC1R genotype

A. Marghoob, C. Longo, J. Malvehy, 2020, Journal of the European Academy of Dermatology and Venereology : JEADV.

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

M. Tejada, C. Badenas, M. Milá, 2006, Clinical genetics.

Should cell‐free DNA testing be used in pregnancy with increased fetal nuchal translucency?

C. Badenas, M. Pauta, A. Borrell, 2020, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Mutational analysis within the 3' region of the PKD1 gene.

X. Estivill, J. L. San Millán, R. Torra, 1999, Kidney international.

Mutations in the COL 4 A 4 and COL 4 A 3 Genes Cause Familial Benign Hematuria

C. Antignac, X. Lens, R. Torra, 2002 .

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

R. Torra, L. Pérez-Oller, C. Badenas, 2000, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Multiple primary melanomas: do they look the same?

M. Oliviero, I. Zalaudek, G. Argenziano, 2013, The British journal of dermatology.

Monitoring of Donor‐Derived Cell‐Free DNA by Short Tandem Repeats: Concentration of Total Cell‐Free DNA and Fragment Size for Acute Rejection Risk Assessment in Liver Transplantation

C. Badenas, C. Fondevila, M. Navasa, 2021, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation

X. Estivill, C. Badenas, M. Milá, 1997, Human Genetics.

Resolution of subclinical porphyria cutanea tarda after hepatitis C eradication with direct‐acting anti‐virals

X. Forns, C. Badenas, P. Aguilera, 2020, Alimentary pharmacology & therapeutics.

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

X. Estivill, J. Mallolas, A. Barceló, 2000, Molecular and cellular probes.

Lack of Mutations in POT1 Gene in Selected Families with Familial Non-Medullary Thyroid Cancer

C. Badenas, M. Mora, J. Reverter, 2020, Hormones and Cancer.

Duplication of CXC chemokine genes on chromosome 4q13 in a melanoma‐prone family

S. Puig, N. Hayward, M. Tucker, 2012, Pigment cell & melanoma research.

Screening for FXTAS in 95 Spanish patients negative for Huntington disease.

B. Gómez-Anson, C. Badenas, M. Milá, 2008, Genetic testing.

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

C. Badenas, M. Milá, I. Madrigal, 2015, Neurodegenerative Diseases.

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

J. Malvehy, S. Puig, E. Guinó, 2013, BMC Medical Genetics.

The MC1R r allele does not increase melanoma risk in MITF E318K carriers

J. Malvehy, D. Duffy, D. Whiteman, 2023, The British journal of dermatology.

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

E. Muñoz, C. Badenas, M. Milá, 2005, Neurology.

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

J. Malvehy, S. Puig, J. Farnham, 2018, European Journal of Human Genetics.

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

S. Puig, J. Molinuevo, J. Clarimón, 2017, Journal of Alzheimer's disease : JAD.

J. Malvehy, S. Puig, M. Marti, 2015 .

J. Malvehy, S. Puig, M. Marti, 2016, Annals of neurology.

Reply to Letter to Editor ANA‐15‐1051 ‘Is the MC1R variant p.R160W associated with Parkinson's?' by Lubbe SJ, Escott‐Price V, Brice A, et al.

J. Malvehy, S. Puig, M. Marti, 2015 .

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

R. Torra, L. Pérez-Oller, C. Badenas, 1999, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders

F. Valldeoriola, E. Muñoz, M. Marti, 2023, Genes.

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

C. Badenas, M. Milá, A. Sánchez, 2004, Molecular human reproduction.

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

S. Puig, L. Thomas, S. Richard, 2015, Nature.

Deletion of the OPHN1 gene detected by aCGH.

C. Badenas, M. Milá, A. Sánchez, 2008, Journal of intellectual disability research : JIDR.

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

C. Badenas, M. Milá, C. Herrero, 2005, Molecular genetics and metabolism.

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

X. Estivill, C. Badenas, M. Milá, 1996, Human Genetics.

Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review

J. L. Villanueva-Cañas, C. Badenas, M. Jodar, 2022, Journal of clinical medicine.

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

C. Badenas, Aurora Sánchez, Irene Mademont, 2012, American journal of medical genetics. Part A.

Maternal transmission in sporadic Huntington's disease.

X. Estivill, C. Badenas, M. Milá, 1997, Journal of neurology, neurosurgery, and psychiatry.

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

R. Torra, C. Badenas, A. Darnell, 1998, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

J. A. Oliver, R. Torra, C. Badenas, 2000, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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

J. Malvehy, S. Puig, F. Mateo, 2017, The Journal of investigative dermatology.

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

S. Puig, J. Dopazo, M. del Río, 2013, OncoTarget.

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

C. Badenas, M. Milá, I. Madrigal, 2010, Translational research : the journal of laboratory and clinical medicine.

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

C. Sessa, C. Badenas, C. Mainetti, 2016, The British journal of dermatology.

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

X. Estivill, L. Revert, V. Volpini, 1998, Medicina clinica.

Genetic counseling in melanoma

J. Malvehy, S. Puig, C. Badenas, 2012, Dermatologic therapy.

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

X. Estivill, R. Torra, C. Badenas, 1997, Clinical nephrology.

High‐ and intermediate‐risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium

J. Malvehy, C. Badenas, S. Necozione, 2023, Journal of the European Academy of Dermatology and Venereology : JEADV.

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

S. Puig, V. Álvarez, J. Millán, 2016, Molecular Neurobiology.