Results 51 to 60 of about 111,118 (342)

Pulmonary valvulotomy in a fetus with pulmonary atresia with intact ventricular septum : first experience in Turkey [PDF]

open access: yes, 2012
The mortality and morbidity of children with pulmonary atresia with intact ventricular septum (PA/IVS) is closely related with right ventricle hypoplasia and its consequent hemodynamics.
Polat, Tugcin Bora, Danısman, N.
core  

MIIP Inhibits Colorectal Cancer Progression by Modulating Neutrophils Infiltration and Neutrophil Extracellular Trap Formation

open access: yesAdvanced Science, EarlyView.
This diagram illustrates that MIIP suppresses tumor‐associated neutrophils infiltration and NETs formation by binding to PKR, which impairs the PKR–IKKβ interaction and attenuates NF‐κB/IL‐8 axis activation, thereby inhibiting colorectal cancer progression. This mechanism highlights a promising therapeutic target for CRC patients.
Jiaxin Li   +8 more
wiley   +1 more source

Reproductive strategies in black scabbardfish (Aphanopus carbo Lowe, 1839) from the NE Atlantic

open access: yesScientia Marina, 2009
Gonads of the NE Atlantic black scabbardfish were examined to give an insight into the reproductive biology of this species. It was concluded that black scabbardfish had determinate fecundity because: (i) a distinct hiatus in oocyte size was observed ...
Ana Neves   +5 more
doaj   +1 more source

Atresia do esôfago - análise de 88 casos. [PDF]

open access: yes, 2002
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Curso de Medicina, Florianópolis ...
Lauriano, Giórgia Coelho
core  

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland   +4 more
wiley   +1 more source

Atresia coanal: análise de 17 casos. [PDF]

open access: yes, 2000
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Pediatria, Curso de Medicina, Florianópolis ...
Monteiro, Fernanda Maia
core  

Stool Color Card Screening for Biliary Atresia

open access: yes, 2012
INTRODUCTION: Biliary atresia is a major cause of extrahepatic obstructive jaundice in neonates. Early Kasai operation is the gold standard of treatment.
曾瑞如;賴美淑;林明志;傅雲慶   +1 more
core   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert   +31 more
wiley   +1 more source

Atresia do Esôfago: Análise de casos em seis anos. [PDF]

open access: yes, 2007
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Machado, Thais Kroeff
core  

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright   +10 more
wiley   +1 more source

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