Detalhe da pesquisa
1.
Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephaly.
Am J Med Genet C Semin Med Genet
; 178(2): 175-186, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30182442
2.
Point-of-Care Thoracic Ultrasonography in the Diagnosis and Management of Kaposiform Lymphangiomatosis.
Pediatr Emerg Care
; 32(12): 888-891, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27898632
3.
De novo deletion of chromosome 20q13.33 in a patient with tracheo-esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene.
Birth Defects Res A Clin Mol Teratol
; 91(9): 862-5, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21608104
4.
Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature.
Am J Med Genet C Semin Med Genet
; 154C(1): 176-82, 2010 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20104614
5.
Holoprosencephaly flashcards: A summary for the clinician.
Am J Med Genet C Semin Med Genet
; 154C(1): 3-7, 2010 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20104594
6.
Evidence for inheritance in patients with VACTERL association.
Hum Genet
; 127(6): 731-3, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20369369
7.
Analysis of component findings in 79 patients diagnosed with VACTERL association.
Am J Med Genet A
; 152A(9): 2236-44, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20683998
8.
C/EBP transcription factors in human squamous cell carcinoma: selective changes in expression of isoforms correlate with the neoplastic state.
PLoS One
; 9(11): e112073, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25402211
9.
Holoprosencephaly: a guide to diagnosis and clinical management.
Indian Pediatr
; 48(6): 457-66, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21743112
10.
Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association.
Congenit Anom (Kyoto)
; 51(2): 87-91, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21235632
11.
Long-term outcomes of adults with features of VACTERL association.
Eur J Med Genet
; 54(1): 34-41, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-20888933
12.
Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association.
Eur J Med Genet
; 54(3): 323-8, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21315191
13.
Enzyme-responsive PARACEST MRI contrast agents: a new biomedical imaging approach for studies of the proteasome.
Contrast Media Mol Imaging
; 2(4): 189-98, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17712869