Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects
CASTRO VARELA, Monica, KOK, Fernando, OTTO, Paulo Alberto, PRISZKULNIK KOIFFMANN, Celia
Published in European journal of human genetics : EJHG (01.12.2004)
Published in European journal of human genetics : EJHG (01.12.2004)
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Angelman Syndrome: Difficulties in EEG Pattern Recognition and Possible Misinterpretations
Valente, Kette D., Andrade, Joaquina Q., Grossmann, Rosi M., Kok, Fernando, Fridman, Cintia, Koiffmann, Célia P., Marques‐Dias, Maria J.
Published in Epilepsia (Copenhagen) (01.08.2003)
Published in Epilepsia (Copenhagen) (01.08.2003)
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Inv dup (15): Is the electroclinical phenotype helpful for this challenging clinical diagnosis?
Valente, Kette D., Freitas, Alessandra, Fridman, Cintia, Varela, Mônica, Silva, Ana Elizabete, Fett, Agnes C., Koiffmann, Célia P.
Published in Clinical neurophysiology (01.04.2006)
Published in Clinical neurophysiology (01.04.2006)
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Angelman syndrome: Uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns
Valente, Kette D., Fridman, Cintia, Varela, Monica C., Koiffmann, Célia P., Andrade, Joaquina Q., Grossmann, Rosi M., Kok, Fernando, Marques-Dias, Maria J.
Published in Epilepsy research (01.12.2005)
Published in Epilepsy research (01.12.2005)
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Epilepsy in Patients With Angelman Syndrome Caused by Deletion of the Chromosome 15q11-13
Valente, Kette D, Koiffmann, Célia P, Fridman, Cíntia, Varella, Mônica, Kok, Fernando, Andrade, Joaquina Queiroz, Grossmann, Rosi M, Marques-Dias, Maria Joaquina
Published in Archives of neurology (Chicago) (01.01.2006)
Published in Archives of neurology (Chicago) (01.01.2006)
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Congenital scalp skull defects with distal limb anomalies (Adams-Oliver syndrome--McKusick 10030): further suggestion of autosomal recessive inheritance
Koiffmann, C P, Wajntal, A, Huyke, B J, Castro, R M
Published in American journal of medical genetics (01.02.1988)
Published in American journal of medical genetics (01.02.1988)
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A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction
Fridman, Cintia, Santos, Mara, Ferrari, Íris, Koiffmann, Célia P
Published in Clinical genetics (01.01.2000)
Published in Clinical genetics (01.01.2000)
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Angelman syndrome: a frequently undiagnosed cause of mental retardation and epilepsy. Case report
Fridman, C, Kok, F, Diament, A, Koiffmann, C P
Published in Arquivos de neuro-psiquiatria (01.06.1997)
Published in Arquivos de neuro-psiquiatria (01.06.1997)
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Ring chromosome 7 in a man with multiple congenital anomalies and mental retardation
Koiffmann, C P, Diament, A, de Souza, D H, Wajntal, A
Published in Journal of medical genetics (01.07.1990)
Published in Journal of medical genetics (01.07.1990)
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Is Shwachman syndrome (McKusick 26040) a chromosome breakage syndrome?
Koiffmann, C P, Gonzalez, C H, Souza, D H, Romani, E G, Kim, C A, Wajntal, A
Published in Human genetics (01.01.1991)
Published in Human genetics (01.01.1991)
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Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15)
Varela, Monica C., Lopes, Graziela M.P., Koiffmann, Celia P.
Published in Annales de génétique (01.07.2004)
Published in Annales de génétique (01.07.2004)
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