Célia Priszkulnik Koiffmann

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

Charles Shaw‐Smith, Alan Pittman, Lionel Willatt et al. · Nature Genetics · 2006 · 371 citations

Chromatin, Developmental Biology, Cytogenetics +9

Whole-genome array-CGH screening in undiagnosed syndromic patients: old syndromes revisited and new alterations

Ana Cristina Victorino Krepischi, Angela Maria Vianna‐Morgante, Fernanda Sarquis Jehee et al. · Cytogenetic and Genome Research · 2006 · 125 citations

Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems

Carla S. D’Angelo, José Albino da Paz, Chong Ae Kim et al. · European Journal of Medical Genetics · 2006 · 122 citations

Psychiatry, Genetic Disorder, Medicine +7

Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects

Monica Castro Varela, Fernando Kok, Paulo Alberto Otto et al. · European Journal of Human Genetics · 2004 · 114 citations · Full text

Psychiatry, Angelman Syndrome, Upd Subjects +3

Epilepsy in Patients With Angelman Syndrome Caused by Deletion of the Chromosome 15q11-13

Kette D. Valente, Célia Priszkulnik Koiffmann, Cíntia Fridman et al. · Archives of Neurology · 2006 · 105 citations