Browsing by Author Simioni, Milena

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Showing results 1 to 13 of 13
PreviewIssue DateTitleAuthor(s)AdvisorType
2012Insertional translocation of 15q25-q26 into 11p13 and duplication at 8p23.1 characterized by high resolution arrays in a boy with congenital malformations and aniridiaSimioni, Milena; Vieira, Tarsis Paiva; Sgardioli, Ilaria Cristina; Freitas, Erika Lopes; Rosenberg, Carla; Maurer-Morelli, Claudia Vianna; Lopes-Cendes, Iscia; Fett-Conte, Agnes Cristina; Gil-da-Silva-Lopes, Vera Lucia-Artigo de periódico
2012A familial case with interstitial 2q36 deletion: Variable phenotypic expression in full and mosaic stateFreitas, Erika L.; Gribble, Susan M.; Simioni, Milena; Vieira, Tarsis P.; Prigmore, Elena; Krepischi, Ana C.; Rosenberg, Carla; Pearson, Peter L.; Melo, Debora G.; Gil-da-Silva-Lopes, Vera Lucia-Artigo de periódico
2016A Multicentric Association Study Between 39 Genes And Nonsyndromic Cleft Lip And Palate In A Brazilian Population.Araujo, Tânia Kawasaki de; Secolin, Rodrigo; Félix, Têmis Maria; Souza, Liliane Todeschini de; Fontes, Marshall Ítalo Barros; Monlleó, Isabella Lopes; Souza, Josiane de; Fett-Conte, Agnes Cristina; Ribeiro, Erlane Marques; Xavier, Ana Carolina; Rezende, Adriana Augusto de; Simioni, Milena; Ribeiro-Dos-Santos, Ândrea Kely Campos; Santos, Sidney Emanuel Batista Dos; Gil-da-Silva-Lopes, Vera Lúcia-Artigo de periódico
2015De Novo Double Reciprocal Translocations In Addition To Partial Monosomy At Another Chromosome: A Very Rare Case.Simioni, Milena; Steiner, Carlos Eduardo; Gil-da-Silva-Lopes, Vera Lúcia-Artigo de periódico
20158p23.1 Interstitial Deletion In A Patient With Congenital Cardiopathy, Neurobehavioral Disorders, And Minor Signs Suggesting 22q11.2 Deletion Syndrome.Molck, Miriam C; Monteiro, Fabíola P; Simioni, Milena; Gil-da-Silva-Lopes, Vera L-Artigo de periódico
2012Insertional Translocation Of 15q25-q26 Into 11p13 And Duplication At 8p23.1 Characterized By High Resolution Arrays In A Boy With Congenital Malformations And Aniridia.Simioni, Milena; Vieira, Társis Paiva; Sgardioli, Ilária Cristina; Freitas, Erika Lopes; Rosenberg, Carla; Maurer-Morelli, Cláudia Vianna; Lopes-Cendes, Iscia; Fett-Conte, Agnes Cristina; Gil-da-Silva-Lopes, Vera Lúcia-Artigo de periódico
2013Atypical Copy Number Abnormalities In 22q11.2 Region: Report Of Three Cases.Molck, Miriam Coelho; Vieira, Társis Paiva; Sgardioli, Ilária Cristina; Simioni, Milena; Dos Santos, Ana Paula; Souza, Josiane; Monteiro, Fabíola Paoli; Gil-da-Silva-Lopes, Vera Lúcia-Artigo de periódico
2013Partial Monosomy 21 (q11.2→q21.3) Combined With 3p25.3→pter Monosomy Due To An Unbalanced Translocation In A Patient Presenting Dysmorphic Features And Developmental Delay.dos Santos, Ana Paula; Vieira, Társis Paiva; Simioni, Milena; Monteiro, Fabíola Paoli; Gil-da-Silva-Lopes, Vera Lúcia-Artigo de periódico
2013A New Case Of Partial 14q31.3-qter Trisomy Due To Maternal Pericentric Inversion.Sgardioli, Ilária Cristina; Simioni, Milena; Viguetti-Campos, Nilma Lúcia; Prota, Joana Rosa; Gil-da-Silva-Lopes, Vera Lúcia-Artigo de periódico
2012Preliminary Analysis Of The Nonsynonymous Polymorphism Rs17563 In Bmp4 Gene In Brazilian Population Suggests Protection For Nonsyndromic Cleft Lip And Palate.Araújo, Tânia Kawasaki; Simioni, Milena; Félix, Têmis Maria; de Souza, Liliane Todeschini; Fontes, Marshall Ítalo Barros; Monlleó, Isabella Lopes; Souza, Josiane; Fett-Conte, Agnes Cristina; Secolin, Rodrigo; Lopes-Cendes, Iscia; Maurer-Morelli, Cláudia Vianna; Gil-da-Silva-Lopes, Vera Lúcia-Artigo de periódico
2015Investigation Of Genetic Factors Underlying Typical Orofacial Clefts: Mutational Screening And Copy Number Variation.Simioni, Milena; Araujo, Tânia Kawasaki; Monlleo, Isabella Lopes; Maurer-Morelli, Cláudia Vianna; Gil-da-Silva-Lopes, Vera Lúcia-Artigo de periódico
2015Distal 22q11.2 Microduplication Combined With Typical 22q11.2 Proximal Deletion: A Case Report.Molck, Miriam Coelho; Vieira, Társis Paiva; Simioni, Milena; Sgardioli, Ilária Cristina; dos Santos, Ana Paula; Xavier, Ana Carolina; Gil-da-Silva-Lopes, Vera Lúcia-Artigo de periódico
2019Genetic comparison of sickle cell anaemia cohorts from Brazil and the United States reveals high levels of divergenceCruz, Pedro R. S.; Ananina, Galina; Gil-da-Silva-Lopes, Vera Lucia; Simioni, Milena; Menaa, Farid; Bezerra, Marcos A. C.; Domingos, Igor F.; Araujo, Aderson S.; Pellegrino, Renata; Hakonarson, Hakon; Costa, Fernando F.; Melo, Monica Barbosa de-Artigo