Ano/microphthalmia, ocular cysts, central nervous system malformations, and neuropsychological delay. Diagnostic considerations on 2 Brazilian patients

Por Guion-Almeida, Maria Leine, Vendramini-Pittoli, Siulan, Richieri-Costa, Antonio
Publicado em 2007

Clinical findings in children with congenital anomalies and misoprostol intrauterine exposure: a study of 38 cases

Por Vendramini-Pittoli, Siulan, Guion-Almeida, Maria L., Richieri-Costa, Antonio, Santos, Juliana M., Kokitsu-Nakata, Nancy M.
Publicado no J Pediatr Genet (2013)

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

Por Richieri-Costa, Antonio, Vendramini-Pittoli, Siulan, Kokitsu-Nakata, Nancy Mizue, Zechi-Ceide, Roseli Maria, Alvarez, Camila Wenceslau, Ribeiro-Bicudo, Lucilene Arilho
Publicado no J Pediatr Genet (2016)

Analysis of MLL2 genein the first Brazilian family with Kabuki syndrome

Por Kokitsu-Nakata, Nancy Mizue, Petrin, Aline Lourenço, Heard, Jason Paul, Vendramini-Pittoli, Siulan, Henkle, Laura E, dos Santos, Daniela Vera Cruz, Murray, Jeffrey Clark, Richieri-Costa, Antonio
Publicado em 2012

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

Por 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
Publicado no Mol Syndromol (2016)

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

Por 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
Publicado no J Pediatr Genet (2020)

Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears

Por Gordon, Christopher T., Petit, Florence, Kroisel, Peter M., Jakobsen, Linda, Zechi-Ceide, Roseli Maria, Oufadem, Myriam, Bole-Feysot, Christine, Pruvost, Solenn, Masson, Cécile, Tores, Frédéric, Hieu, Thierry, Nitschké, Patrick, Lindholm, Pernille, Pellerin, Philippe, Guion-Almeida, Maria Leine, Kokitsu-Nakata, Nancy Mizue, Vendramini-Pittoli, Siulan, Munnich, Arnold, Lyonnet, Stanislas, Holder-Espinasse, Muriel, Amiel, Jeanne
Publicado em 2013

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

Por Romanelli Tavares, Vanessa L, Gordon, Christopher T, Zechi-Ceide, Roseli M, Kokitsu-Nakata, Nancy Mizue, Voisin, Norine, Tan, Tiong Y, Heggie, Andrew A, Vendramini-Pittoli, Siulan, Propst, Evan J, Papsin, Blake C, Torres, Tatiana T, Buermans, Henk, Capelo, Luciane Portas, den Dunnen, Johan T, Guion-Almeida, Maria L, Lyonnet, Stanislas, Amiel, Jeanne, Passos-Bueno, Maria Rita
Publicado no Eur J Hum Genet (2015)

Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome

Por Kievit, Anneke, Tessadori, Federico, Douben, Hannie, Jordens, Ingrid, Maurice, Madelon, Hoogeboom, Jeannette, Hennekam, Raoul, Nampoothiri, Sheela, Kayserili, Hülya, Castori, Marco, Whiteford, Margo, Motter, Connie, Melver, Catherine, Cunningham, Michael, Hing, Anne, Kokitsu-Nakata, Nancy M., Vendramini-Pittoli, Siulan, Richieri-Costa, Antonio, Baas, Annette F., Breugem, Corstiaan C., Duran, Karen, Massink, Maarten, Derksen, Patrick W. B., van IJcken, Wilfred F. J., van Unen, Leontine, Santos-Simarro, Fernando, Lapunzina, Pablo, Gil-da Silva Lopes, Vera L., Lustosa-Mendes, Elaine, Krall, Max, Slavotinek, Anne, Martinez-Glez, Victor, Bakkers, Jeroen, van Gassen, Koen L. I., de Klein, Annelies, van den Boogaard, Marie-José H., van Haaften, Gijs
Publicado no Eur J Hum Genet (2018)

Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose

Por Delaney, Angela, Volochayev, Rita, Meader, Brooke, Lee, Janice, Almpani, Konstantinia, Noukelak, Germaine Y, Henkind, Jennifer, Chalmers, Laura, Law, Jennifer R, Williamson, Kathleen A, Jacobsen, Christina M, Buitrago, Tatiana Pineda, Perez, Orlando, Cho, Chie-Hee, Kaindl, Angela, Rauch, Anita, Steindl, Katharina, Garcia, Jose Elias, Russell, Bianca E, Prasad, Rameshwar, Mondal, Uttam K, Reigstad, Hallvard M, Clements, Scott, Kim, Susan, Inoue, Kaoru, Arora, Gazal, Salnikov, Kathryn B, DiOrio, Nicole P, Prada, Rolando, Capri, Yline, Morioka, Kosuke, Mizota, Michiyo, Zechi-Ceide, Roseli M, Kokitsu-Nakata, Nancy M, Tonello, Cristiano, Vendramini-Pittoli, Siulan, da Silva Dalben, Gisele, Balasubramanian, Ravikumar, Dwyer, Andrew A, Seminara, Stephanie B, Crowley, William F, Plummer, Lacey, Hall, Janet E, Graham, John M, Lin, Angela E, Shaw, Natalie D
Publicado no J Clin Endocrinol Metab (2020)