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Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2170, doi. 10.1002/ajmg.a.61305
By:
- Richieri‐Costa, Antonio;
- Zechi‐Ceide, Roseli M.;
- Candido‐Souza, Rosana M.;
- Monteiro, Rejane A. C.;
- Tonello, Cristiano;
- Freitas, Mariana L.;
- Kokitsu‐Nakata, Nancy M.;
- Vendramini‐Pittoli, Siulan;
- Mazzeu, Juliana F.;
- Overes, Madelief;
- Ali‐Amin, Roza;
- Slegtenhorst, Marjon;
- Hoefsloot, Lies H.;
- Jehee, Fernanda S.
Publication type:
Article
Mandibulofacial dysostosis Bauru type: Refining the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1747, doi. 10.1002/ajmg.a.38257
By:
- Moura, Priscila P.;
- Kokitsu‐Nakata, Nancy M.;
- Yatabe, Marília S.;
- Vendramini‐Pittoli, Siulan;
- Hori, Pedro H.;
- Guion‐Almeida, Maria L.;
- Garib, Daniela G.;
- Richieri‐Costa, Antonio;
- Zechi‐Ceide, Roseli M.
Publication type:
Article
Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 938, doi. 10.1002/ajmg.a.38101
By:
- Romanelli Tavares, Vanessa L.;
- Zechi‐Ceide, Roseli M.;
- Bertola, Debora R.;
- Gordon, Christopher T.;
- Ferreira, Simone G.;
- Hsia, Gabriella S. P.;
- Yamamoto, Guilherme L.;
- Ezquina, Suzana A. M.;
- Kokitsu‐Nakata, Nancy M.;
- Vendramini‐Pittoli, Siulan;
- Freitas, Renato S.;
- Souza, Josiane;
- Raposo‐Amaral, Cesar A.;
- Zatz, Mayana;
- Amiel, Jeanne;
- Guion‐Almeida, Maria L.;
- Passos‐Bueno, Maria Rita
Publication type:
Article
Eyeball Preservation With Purse-String Conjunctival Closure for Melting Corneal Ulcer in Rare Facial Cleft.
Published in:
Cleft Palate Craniofacial Journal, 2021, v. 58, n. 9, p. 1195, doi. 10.1177/1055665620980632
By:
- Tonello, Cristiano;
- Paula, Raul G.;
- Paula, Isabella P.;
- Nunes, Rodrigo B.;
- Kokitsu-Nakata, Nancy M.;
- Alonso, Nivaldo
Publication type:
Article
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Published in:
Human Mutation, 2022, v. 43, n. 5, p. 582, doi. 10.1002/humu.24349
By:
- Vegas, Nancy;
- Demir, Zeynep;
- Gordon, Christopher T.;
- Breton, Sylvain;
- Romanelli Tavares, Vanessa L.;
- Moisset, Hugo;
- Zechi‐Ceide, Roseli;
- Kokitsu‐Nakata, Nancy M.;
- Kido, Yasuhiro;
- Marlin, Sandrine;
- Gherbi Halem, Souad;
- Meerschaut, Ilse;
- Callewaert, Bert;
- Chung, Brian;
- Revencu, Nicole;
- Lehalle, Daphné;
- Petit, Florence;
- Propst, Evan J.;
- Papsin, Blake C.;
- Phillips, John H.
Publication type:
Article
Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability.
Published in:
Molecular Syndromology, 2016, v. 7, n. 6, p. 344, doi. 10.1159/000450971
By:
- 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
Publication type:
Article

Found: 6

Holoprosencephaly, orofacial cleft, and frontonaso‐orbital encephaloceles: Genetic evaluation of a possible new syndrome.

Mandibulofacial dysostosis Bauru type: Refining the phenotype.

Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

Eyeball Preservation With Purse-String Conjunctival Closure for Melting Corneal Ulcer in Rare Facial Cleft.

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.

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