Results 171 to 180 of about 387,299 (307)

Congenital arteriovenous malformations

open access: yesJournal of British Surgery, 1993
A W, Halliday, A O, Mansfield
openaire   +2 more sources

Congenital cardiac malformations in congenital hypothyroid patients in Isfahan

open access: yes, 2006
BACKGROUND: Congenital hypothyroidism (CH) often seems to be associated with other congenital abnormalities, mostly cardiac in nature. The aim of this study was to determine the prevalence of cardiac malformations in patients with CH diagnosed during CH ...
Mahin Hashemipour   +2 more
core  

Secretopathies emerge as a new class of neurocristopathies

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira   +3 more
wiley   +1 more source

Zebrafish inversin mutants develop scoliosis in the absence of laterality defects

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background Human mutations in INVERSIN are associated with nephronophthisis, variable penetrance of situs inversus and congenital heart disease. Inversin has been shown to localize to cilia and many of the patient phenotypes are attributed to disrupted cilia function.
Christopher J. Derrick   +3 more
wiley   +1 more source

Exploring the Impact of Missing Death Data on Identification of Congenital Malformations in Insurance Claims Data. [PDF]

open access: yesPaediatr Perinat Epidemiol
Nickel KB   +9 more
europepmc   +1 more source

Membrane lipid metabolism as a regulatory frontier in neural crest biology: Roles for sphingolipids, cholesterol, and lipid rafts

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Neural crest cells are multipotent, migratory stem‐like cells essential for vertebrate development that contribute broadly to many tissues including the craniofacial skeleton, peripheral nervous system, and pigment‐producing cells. Their development progresses through phases of induction, specification, delamination, migration, and ...
Allison E. Mancini   +2 more
wiley   +1 more source

Paternal use of metformin and risk of major congenital malformations: A meta-analysis of 4 studies. [PDF]

open access: yesBr J Clin Pharmacol
Damkier P   +7 more
europepmc   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman   +7 more
wiley   +1 more source

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