Pesquisa | Biblioteca Virtual em Saúde

1.

Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.

Thomas-Wilson, Amanda; Schacht, John P; Chitayat, David; Blaser, Susan; Santos, Francis Jeshira Reynoso; Glaser, Kimberly; Caffo, Alesky; Wentzensen, Ingrid M; Henderson, Lindsay B; Zhang, Futao; Zhu, Ying; Di Corleto, Ellen; da Silva Costa, Fabricio; Vink, Rebecca; Alkhunaizi, Ebba; Russell, Laura; Buckley, Michael F; Roscioli, Tony; Pereira, Elaine Maria; Ganapathi, Mythily.

Am J Med Genet A ; 191(7): 1935-1941, 2023 07.

Artigo em Inglês | MEDLINE | ID: mdl-37031378

2.

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.

Malinowski, Jennifer; Miller, David T; Demmer, Laurie; Gannon, Jennifer; Pereira, Elaine Maria; Schroeder, Molly C; Scheuner, Maren T; Tsai, Anne Chun-Hui; Hickey, Scott E; Shen, Jun.

Genet Med ; 22(6): 986-1004, 2020 06.

Artigo em Inglês | MEDLINE | ID: mdl-32203227

3.

Trisomy 21.

Pereira, Elaine Maria.

Pediatr Rev ; 45(2): 116-117, 2024 02 01.

Artigo em Inglês | MEDLINE | ID: mdl-38296776

4.

Fetal Alcohol Spectrum Disorders.

Pereira, Elaine Maria.

Pediatr Rev ; 45(5): 303-304, 2024 May 01.

Artigo em Inglês | MEDLINE | ID: mdl-38689104

5.

Trisomy 13.

Pereira, Elaine Maria.

Pediatr Rev ; 44(1): 53-54, 2023 01 01.

Artigo em Inglês | MEDLINE | ID: mdl-36587017

6.

Gene Therapy Update.

Pereira, Elaine Maria.

Pediatr Rev ; 43(9): 536-537, 2022 09 01.

Artigo em Inglês | MEDLINE | ID: mdl-36045154

7.

Clinical perspectives on osteogenesis imperfecta versus non-accidental injury.

Pereira, Elaine Maria.

Am J Med Genet C Semin Med Genet ; 169(4): 302-6, 2015 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-26492946

8.

Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

Rosenfeld, Jill A; Amrom, Dina; Andermann, Eva; Andermann, Frederick; Veilleux, Martin; Curry, Cynthia; Fisher, Jamie; Deputy, Stephen; Aylsworth, Arthur S; Powell, Cynthia M; Manickam, Kandamurugu; Heese, Bryce; Maisenbacher, Melissa; Stevens, Cathy; Ellison, Jay W; Upton, Sheila; Moeschler, John; Torres-Martinez, Wilfredo; Stevens, Abby; Marion, Robert; Pereira, Elaine Maria; Babcock, Melanie; Morrow, Bernice; Sahoo, Trilochan; Lamb, Allen N; Ballif, Blake C; Paciorkowski, Alex R; Shaffer, Lisa G.

Neurogenetics ; 13(1): 31-47, 2012 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-22218741

9.

Hepatoblastoma in a mosaic trisomy 18 patient.

Pereira, Elaine Maria; Marion, Robert; Ramesh, K H; Kim, Jane S; Ewart, Michelle; Ricafort, Rosanna.

J Pediatr Hematol Oncol ; 34(4): e145-8, 2012 May.

Artigo em Inglês | MEDLINE | ID: mdl-22469941

Biblioteca Virtual em Saúde

Saúde Pública Brasil

Sua seleção (0)

Formato de exportação:

Exportar:

Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.

Trisomy 21.

Fetal Alcohol Spectrum Disorders.

Trisomy 13.

Gene Therapy Update.

Clinical perspectives on osteogenesis imperfecta versus non-accidental injury.

Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

Hepatoblastoma in a mosaic trisomy 18 patient.