Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
![]() |
Single median maxillary central incisor, hypophyseal tumor, and SHH mutationRibeiro, Lucilene Arilho ; Richieri-Costa, AntonioAmerican journal of medical genetics. Part A, 2005-08, Vol.136A (4), p.346-347 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
2 |
Material Type: Artigo
|
![]() |
Atypical interhemispheric fusion with a cebocephalic-like functional single nostril nose and a novel SHH mutationRibeiro, Lucilene Arilho ; Richieri-Costa, AntonioAmerican journal of medical genetics. Part A, 2005-08, Vol.136A (4), p.348-349 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
3 |
Material Type: Artigo
|
![]() |
Cerebro-oculo-nasal syndrome, a disorder with some manifestations suggestive of the holoprosencephalic spectrum: New case and imaging review of previous casesRichieri-Costa, Antonio ; Ribeiro, Lucilene ArilhoAmerican journal of medical genetics. Part A, 2005-08, Vol.136A (4), p.352-353 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
4 |
Material Type: Artigo
|
![]() |
Holoprosencephaly with microphthalmia, hypoplastic ears, vertebral segmentation defects, and congenital heart defectsRibeiro, Lucilene Arilho ; Guerini, Rita de Cássia M. ; Richieri-Costa, AntonioAmerican journal of medical genetics. Part A, 2005-08, Vol.136A (4), p.350-351 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
5 |
Material Type: Artigo
|
![]() |
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analysesVillela, Darine ; Mazzonetto, Patricia C. ; Migliavacca, Michele P. ; Perrone, Eduardo ; Guida, Gustavo ; Milanezi, Maria Fernanda G. ; Jorge, Alexander A. L. ; Ribeiro‐Bicudo, Lucilene A. ; Kok, Fernando ; Campagnari, Francine ; Rosso‐Giuliani, Liane ; Costa, Silvia Souza ; Vianna‐Morgante, Angela M. ; Pearson, Peter L. ; Krepischi, Ana C. V. ; Rosenberg, CarlaAmerican journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2335-2344 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
6 |
Material Type: Artigo
|
![]() |
The phenotypic spectrum of congenital Zika syndromedel Campo, Miguel ; Feitosa, Ian M. L. ; Ribeiro, Erlane M. ; Horovitz, Dafne D. G. ; Pessoa, André L. S. ; França, Giovanny V. A. ; García‐Alix, Alfredo ; Doriqui, Maria J. R. ; Wanderley, Hector Y. C. ; Sanseverino, Maria V. T. ; Neri, João I. C. F. ; Pina‐Neto, João M. ; Santos, Emerson S. ; Verçosa, Islane ; Cernach, Mirlene C. S. P. ; Medeiros, Paula F. V. ; Kerbage, Saile C. ; Silva, André A. ; van der Linden, Vanessa ; Martelli, Celina M. T. ; Cordeiro, Marli T. ; Dhalia, Rafael ; Vianna, Fernanda S. L. ; Victora, Cesar G. ; Cavalcanti, Denise P. ; Schuler‐Faccini, LaviniaAmerican journal of medical genetics. Part A, 2017-04, Vol.173 (4), p.841-857 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
7 |
Material Type: Artigo
|
![]() |
Dual molecular diagnosis contributes to atypical Prader–Willi phenotype in monozygotic twinsJehee, Fernanda S. ; de Oliveira, Valdirene T. ; Gurgel‐Giannetti, Juliana ; Pietra, Rafaella X. ; Rubatino, Fernando V. M. ; Carobin, Natália V. ; Vianna, Gabrielle S. ; de Freitas, Mariana L. ; Fernandes, Karla S. ; Ribeiro, Beatriz S. V. ; Brüggenwirth, Hennie T. ; Ali‐Amin, Roza ; White, Janson J. ; Akdemir, Zeynep C. ; Jhangiani, Shalini N. ; Gibbs, Richard A. ; Lupski, James R. ; Varela, Monica C. ; Koiffmann, Célia ; Rosenberg, Carla ; Carvalho, Cláudia M. B.American journal of medical genetics. Part A, 2017-09, Vol.173 (9), p.2451-2455 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
8 |
Material Type: Artigo
|
![]() |
Relationship between polymorphisms in genes involved in homocysteine metabolism and maternal risk for Down syndrome in Brazilda Silva, Luciana Rodrigues Jacy ; Vergani, Naja ; Galdieri, Luciano de Camargo ; Ribeiro Porto, Marianna Picarelli ; Longhitano, Silvia Bragagnolo ; Brunoni, Decio ; D'Almeida, Vânia ; Alvarez Perez, Ana BeatrizAmerican journal of medical genetics. Part A, 2005-06, Vol.135A (3), p.263-267 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
9 |
Material Type: Artigo
|
![]() |
SIX3 mutations with holoprosencephalyRibeiro, Lucilene Arilho ; El-Jaick, Kenia B. ; Muenke, Maximilian ; Richieri-Costa, AntonioAmerican journal of medical genetics. Part A, 2006-12, Vol.140A (23), p.2577-2583 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
10 |
Material Type: Artigo
|
![]() |
AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populationsAngeli, Claudia B. ; Capelli, Leonardo P. ; Auricchio, Maria Teresa B.M. ; Vianna-Morgante, Angela M. ; Mingroni-Netto, Regina C. ; Leal-Mesquita, Emygdia R. ; Ribeiro-dos-Santos, Ândrea K.C. ; Ferrari, Iris ; Oliveira, Silviene F. ; Klautau-Guimarães, Maria de NazaréAmerican journal of medical genetics, 2005-01, Vol.132A (2), p.210-214 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |