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

von Guion-Almeida, Maria Leine, Vendramini-Pittoli, Siulan, Richieri-Costa, Antonio
Veröffentlicht 2007

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

von Vendramini-Pittoli, Siulan, Guion-Almeida, Maria L., Richieri-Costa, Antonio, Santos, Juliana M., Kokitsu-Nakata, Nancy M.
Veröffentlicht in J Pediatr Genet (2013)

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

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

Analysis of MLL2 genein the first Brazilian family with Kabuki syndrome

von 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
Veröffentlicht 2012

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

von 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
Veröffentlicht in Mol Syndromol (2016)

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

von 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
Veröffentlicht in J Pediatr Genet (2020)

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

von 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
Veröffentlicht 2013

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

von 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
Veröffentlicht in Eur J Hum Genet (2015)

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

von 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
Veröffentlicht in Eur J Hum Genet (2018)

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

von 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
Veröffentlicht in J Clin Endocrinol Metab (2020)