Results 151 to 160 of about 566,258 (390)

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun   +2 more
wiley   +1 more source

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp   +7 more
wiley   +1 more source

A pig model of acute right ventricular afterload increase by hypoxic pulmonary vasoconstriction [PDF]

open access: yes, 2017
Background: The aim of this study was to construct a non-invasive model for acute right ventricular afterload increase by hypoxic pulmonary vasoconstriction.
Knai, Kathrine
core  

Animal models of lung cancer: Phenotypic comparison of different animal models of lung cancer and their application in the study of mechanisms

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Grafts used to construct lung cancer animal models come from various sources, primarily cell lines, patient‐derived tumor tissues, and circulating tumor cells. Based on the sources of grafts and research objectives, lung cancer animal models can be categorized into several types: chemical‐induced models, orthotopic transplantation models, heterotopic ...
Zixuan Yang   +7 more
wiley   +1 more source

Right ventricular exclusion procedure for right ventricular failure of Ebstein's anomaly [PDF]

open access: yesThe Journal of Thoracic and Cardiovascular Surgery, 2009
Chun Su Park   +3 more
openaire   +3 more sources

Bioimaging of sense organs and the central nervous system in extant fishes and reptiles in situ: A review

open access: yesThe Anatomical Record, EarlyView.
Bioimaging of the sense organs and brain of fishes and reptiles. Left panel: 3D reconstruction of the head and brain of the deep‐sea viperfish Chauliodus sloani following diceCT. Right panel: A 3D reconstruction of a 70‐day‐old embryo head of the bearded dragon Pogona vitticeps following diceCT, showing the position of the segmented brain within the ...
Shaun P. Collin   +9 more
wiley   +1 more source

Isolated Non-Compacted Right Ventricular Myocardium with Severe Pulmonary Hypertension [PDF]

open access: yes, 2014
BACKGROUND: There have been only at least seven cases of isolated right ventricular non-compaction reported in literature, hence, there are no definite criteria for diagnosis and recommendations for management of these patients.
., Eduardo Vicente Caguioa, MD
core   +1 more source

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