Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

Sandra Hanks, Kim Coleman, Sarah Reid, +13

Nature Genetics

Biallelic MutationsSomatic VariantGenetic DisorderGeneticsPathology +5

Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18 000 consecutive clinical samples

Vincenzo Cirigliano, Gianfranco Voglino, M. Paz Cañadas, +10

Molecular Human Reproduction

Genetic TestingFertilityCytogeneticsGeneticsPathology +20

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

Lluı́s Armengol, Julián Nevado, Clara Serra‐Juhé, +12

Human Genetics

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

Célia Bádenas, Laia Rodríguez‐Revenga, Carmen Morales, +11

Journal of Molecular Diagnostics

Early DiagnosisPrenatal Genetic TestingPediatricsDiagnosisGynecology +6

Low levels of microsatellite instability characterize MLH1 and MSH2 HNPCC carriers before tumor diagnosis

Hafid Alazzouzi, Enric Domingo, Sara González, +6

Human Molecular Genetics

Genome InstabilityMmr Mutation CarriersCancer PathologySomatic VariantTumor Heterogeneity +13

Rapid Prenatal Diagnosis by QF‐PCR: Evaluation of 30,000 Consecutive Clinical Samples and Future Applications

Vincenzo Cirigliano, Gianfranco Voglino, A. Marongiu, +6

Annals of the New York Academy of Sciences

High EPHB2 mutation rate in gastric but not endometrial tumors with microsatellite instability

Verónica Dávalos, Higinio Dopeso, Sérgia Velho, +23

Oncogene

Somatic VariantGenetic DisorderGeneticsMicrosatellite InstabilityPathology +5

Comparative genomic hybridization and BUB1B mutation analyses in childhood cancers associated with mosaic variegated aneuploidy syndrome

Sandra Hanks, Kim Coleman, Brenda Summersgill, +8

Cancer Letters

Somatic VariantGenetic DisorderMedicineGeneticsComparative Genomic Hybridization +8

Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: A possible recurrent chromosome aberration

Alberto Plaja, Elisabet Lloveras, Cristina Martínez-Bouzas, +9

American Journal of Medical Genetics Part A

Supernumerary Ring Chromosome: An Etiology for Pallister-Killian Syndrome?

E Lloveras, Amandine Canellas, Vincenzo Cirigliano, +3

Fetal Diagnosis and Therapy