A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

Elena Bussaglia, Olivier Clermont, Eduardo F. Tizzano, +8

Nature Genetics

GeneticsFrame–shift DeletionDegenerative DiseaseNeuroscienceNeurology +5

Molecular genetic alterations in endometrioid carcinomas of the ovary: Similar frequency of beta-catenin abnormalities but lower rate of microsatellite instability and PTEN alterations than in uterine endometrioid carcinomas

Lluís Catasús, Elena Bussaglia, Ingrid Rodrı́guez, +4

Human Pathology

InfertilityFemale InfertilityPten AlterationsMolecular Genetic AlterationsEndometrioid Carcinomas +5

PTEN mutations in endometrial carcinomas: A molecular and clinicopathologic analysis of 38 cases

Elena Bussaglia, E DELRIO, Xavier Matías‐Guiu, +1

Human Pathology

MedicineGynecologyPathologyPten MutationsEndometrial Carcinomas +1

PTEN Promoter Methylation in Sporadic Thyroid Carcinomas

Francisco Álvarez-Núñez, Elena Bussaglia, Dı́dac Mauricio, +5

Thyroid

Epigenetic ChangeGeneticsPathologyPten Promoter HypermethylationEpigenetics +14

PIK3CA gene mutations in endometrial carcinoma. Correlation with PTEN and K-RAS alterations☆

Ana Velasco, Elena Bussaglia, Judit Pallarés, +6

Human Pathology

K-ras Alterations☆OncologyMedicineGynecologyPathology +10

Synchronous endometrioid carcinomas of the uterine corpus and ovary: alterations in the β-catenin (CTNNB1) pathway are associated with independent primary tumors and favorable prognosis

Julie Irving, Lluís Catasús, Alberto Gallardo, +4

Human Pathology

Tumoral PathologyEndocrine-related CancerFavorable PrognosisMedicineUterine Receptivity +8

Immunohistochemical analysis of PTEN in endometrial carcinoma: a tissue microarray study with a comparison of four commercial antibodies in correlation with molecular abnormalities

Judit Pallarés, Elena Bussaglia, José‐Luis Martínez‐Guitarte, +7

Modern Pathology

MedicineCommercial AntibodiesGynecologyPathologyMolecular Pathology +5

Bone marrow WT1 levels at diagnosis, post-induction and post-intensification in adult de novo AML

Josep Nomdedéu, Montserrat Hoyos, Maite Carricondo, +16

Leukemia

Hematological MalignancyMedicineHematologyPathologyMolecular Diagnostics +3

A New Locus for Autosomal Recessive Retinitis Pigmentosa (RP19) Maps to 1p13–1p21

Amalia Martı́nez-Mir, Mónica Bayés, Lluı̈sa Vilageliu, +7

Genomics

Mendelian DisorderGenetic DisorderGeneticsNew LocusMolecular Genetics +5

Clonality Analysis in Synchronous or Metachronous Tumors of the Female Genital Tract

Xavier Matías‐Guiu, Helena Lagarda, Lluís Catasús, +4

International Journal of Gynecological Pathology

Tumoral PathologyMetachronous TumorsComparative LiteratureLiterary CriticismClonality Analysis +11