Cleft Lip/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14

ανά Gamba, Bruno F., Rosenberg, Carla, Costa, Silvia, Richieri-Costa, Antonio, Ribeiro-Bicudo, Lucilene A.
Τόπος έκδοσης Mol Syndromol (2015)

Clinical findings in patients with GLI2 mutations – phenotypic variability

ανά Bertolacini, Claudia Danielli Pereira, Ribeiro-Bicudo, Lucilene Arilho, Petrin, Aline da Silva, Richieri-Costa, Antonio, Murray, Jeffrey C.
Έκδοση 2011

Multisystem Involvement in a Patient with a PTCH1 Mutation: Clinical and Imaging Findings

ανά Richieri-Costa, Antonio, Vendramini-Pittoli, Siulan, Kokitsu-Nakata, Nancy Mizue, Zechi-Ceide, Roseli Maria, Alvarez, Camila Wenceslau, Ribeiro-Bicudo, Lucilene Arilho
Τόπος έκδοσης J Pediatr Genet (2016)

Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome

ανά Hong, Sungkook, Hu, Ping, Marino, Juliana, Hufnagel, Sophia B., Hopkin, Robert J., Toromanović, Alma, Richieri-Costa, Antonio, Ribeiro-Bicudo, Lucilene A., Kruszka, Paul, Roessler, Erich, Muenke, Maximilian
Τόπος έκδοσης Hum Mol Genet (2016)

Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability

ανά Gamba, Bruno F., Zechi-Ceide, Roseli M., Kokitsu-Nakata, Nancy M., Vendramini-Pittoli, Siulan, Rosenberg, Carla, Krepischi Santos, Ana C.V., Ribeiro-Bicudo, Lucilene, Richieri-Costa, Antonio
Τόπος έκδοσης Mol Syndromol (2016)

Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2

ανά Vendramini-Pittoli, Siulan, Candido-Souza, Rosana Maria, Quiezi, Rodrigo Gonçalves, Zechi-Ceide, Roseli Maria, Kokitsu-Nakata, Nancy Mizue, Jehee, Fernanda Sarquis, Ribeiro-Bicudo, Lucilene Arilho, FitzPatrick, David R., Guion-Almeida, Maria Leine, Richieri-Costa, Antonio
Τόπος έκδοσης J Pediatr Genet (2020)