Detalhe da pesquisa
1.
Associations between maternal periconceptional alcohol consumption and risk of omphalocele among offspring, National Birth Defects Prevention Study, 1997-2011.
Prev Med
; 180: 107891, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38342385
2.
FaceBase 3: analytical tools and FAIR resources for craniofacial and dental research.
Development
; 147(18)2020 09 21.
Artigo
Inglês
| MEDLINE | ID: mdl-32958507
3.
Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.
Am J Med Genet A
; 191(11): 2743-2748, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37675855
4.
Attitudes on pharmacogenomic results as secondary findings among medical geneticists.
Pharmacogenet Genomics
; 32(8): 273-280, 2022 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35916546
5.
Maternal periconceptional alcohol consumption and gastroschisis in the National Birth Defects Prevention Study, 1997-2011.
Paediatr Perinat Epidemiol
; 36(6): 782-791, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-35437856
6.
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Hum Genet
; 140(12): 1709-1731, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34652576
7.
Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects.
Development
; 145(19)2018 10 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30228104
8.
The FaceBase Consortium: a comprehensive resource for craniofacial researchers.
Development
; 143(14): 2677-88, 2016 07 15.
Artigo
Inglês
| MEDLINE | ID: mdl-27287806
9.
Nonsyndromic craniosynostosis: novel coding variants.
Pediatr Res
; 85(4): 463-468, 2019 03.
Artigo
Inglês
| MEDLINE | ID: mdl-30651579
10.
Neonatal outcomes during the COVID-19 pandemic in New York City.
Pediatr Res
; 91(3): 477-479, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33828229
11.
Development and preliminary evaluation of an online educational video about whole-genome sequencing for research participants, patients, and the general public.
Genet Med
; 18(5): 501-12, 2016 05.
Artigo
Inglês
| MEDLINE | ID: mdl-26334178
12.
Reconstructive Surgery in Times of Conflict.
J Craniofac Surg
; 27(6): 1506-9, 2016 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-27428908
13.
Quantitative Assessment of Facial Asymmetry Using Three-Dimensional Surface Imaging in Adults: Validating the Precision and Repeatability of a Global Approach.
Cleft Palate Craniofac J
; 53(1): 126-31, 2016 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25489769
14.
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice.
Am J Hum Genet
; 91(1): 171-9, 2012 Jul 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22770981
15.
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
Am J Hum Genet
; 90(5): 925-33, 2012 May 04.
Artigo
Inglês
| MEDLINE | ID: mdl-22541558
16.
Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
Am J Hum Genet
; 91(1): 56-72, 2012 Jul 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22770980
17.
Novel evidence of association with nonsyndromic cleft lip with or without cleft palate was shown for single nucleotide polymorphisms in FOXF2 gene in an Asian population.
Birth Defects Res A Clin Mol Teratol
; 103(10): 857-62, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26278207
18.
Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.
Brain
; 137(Pt 4): 1068-79, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24561559
19.
Ten-year experience of more than 35,000 orofacial clefts in Africa.
BMC Pediatr
; 15: 8, 2015 Feb 14.
Artigo
Inglês
| MEDLINE | ID: mdl-25884320
20.
Embryonic craniofacial bone volume and bone mineral density in Fgfr2(+/P253R) and nonmutant mice.
Dev Dyn
; 243(4): 541-51, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24504751