Detalhe da pesquisa
1.
Lung endoderm morphogenesis: gasping for form and function.
Annu Rev Cell Dev Biol
; 31: 553-73, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26359777
2.
The long noncoding RNA Falcor regulates Foxa2 expression to maintain lung epithelial homeostasis and promote regeneration.
Genes Dev
; 33(11-12): 656-668, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30923168
3.
Twin-twin transfusion syndrome recipient with arterial calcification and heterozygous variant in ABCC6: Evidence of a gene-environment interaction?
Prenat Diagn
; 43(8): 1092-1095, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37309085
4.
Perinatal Outcomes of Fetuses and Infants Diagnosed with Trisomy 13 or Trisomy 18.
J Pediatr
; 247: 116-123.e5, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35452657
5.
Long noncoding RNAs are spatially correlated with transcription factors and regulate lung development.
Genes Dev
; 28(12): 1363-79, 2014 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24939938
6.
Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.
Genet Med
; 23(5): 909-917, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33442022
7.
Making a Genetic Diagnosis in a Level IV Neonatal Intensive Care Unit Population: Who, When, How, and at What Cost?
J Pediatr
; 213: 211-217.e4, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31255390
8.
Novel Molecular and Phenotypic Insights into Congenital Lung Malformations.
Am J Respir Crit Care Med
; 197(10): 1328-1339, 2018 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29328793
9.
Systematic Review and Meta-analysis: Gene Association Studies in Neonatal Sepsis.
Am J Perinatol
; 34(7): 684-692, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27960200
10.
Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.
Am J Med Genet A
; 161A(3): 473-8, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401257
11.
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.
Am J Med Genet A
; 161A(8): 1929-39, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23804593
12.
PRDM3/16 Regulate Chromatin Accessibility Required for NKX2-1 Mediated Alveolar Epithelial Differentiation and Function.
bioRxiv
; 2023 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38187557
13.
Detection and impact of genetic disease in a level IV neonatal intensive care unit.
J Perinatol
; 42(5): 580-588, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35181764
14.
PI3K signaling specifies proximal-distal fate by driving a developmental gene regulatory network in SOX9+ mouse lung progenitors.
Elife
; 112022 08 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35976093
15.
Fetal maturation revealed by amniotic fluid cell-free transcriptome in rhesus macaques.
JCI Insight
; 7(18)2022 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35980752
16.
Preterm infant with diprosopus and holoprosencephaly.
Clin Case Rep
; 9(12): e05163, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34987809
17.
Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management.
Am J Med Genet A
; 152A(3): 565-72, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20140962
18.
Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.
Prenat Diagn
; 33(10): 1010-2, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23754335
19.
Accelerating Scientific Advancement for Pediatric Rare Lung Disease Research. Report from a National Institutes of Health-NHLBI Workshop, September 3 and 4, 2015.
Ann Am Thorac Soc
; 13(12): 385-393, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27925785
20.
Unusual cardiac "masses" in a newborn with infantile pompe disease.
JIMD Rep
; 5: 17-20, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23430912