Results 111 to 120 of about 32,891 (308)

Cardiovascular Health in Women—Across the Lifespan

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT Cardiovascular disease (CVD) remains the leading cause of mortality and morbidity among women worldwide. However, CVD continues to be perceived as a predominantly male issue. CVD in women therefore remains understudied, underrecognized and undertreated.
Jaya Chandrasekhar   +5 more
wiley   +1 more source

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics

open access: yesClinical Genetics, EarlyView.
To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum   +13 more
wiley   +1 more source

A RARE PRESENTATION OF COARCTATION OF AORTA AS HEMORRHAGIC STROKE IN 22 YEARS OLD MALE: A CASE REPORT

open access: yesNational Journal of Medical Research, 2020
Spontaneous intracerebral hemorrhage in young adult is rare phenomena. most of them are due to rupture of arteriovenous malformation and cavernous angioma. Here we are reportinga rare presentation of aortic coarctation in adult as stroke.
Vivek Singh   +5 more
doaj  

Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta

open access: yesCase Reports in Pediatrics, 2013
Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant genetic disorder with a prevalence of 1 in 3,000 (0.03%) at birth. Clinical features are café-au-lait macules, intertriginous freckling, dermal neurofibroma, iris hamartoma (Lisch ...
Masato Kimura   +4 more
doaj   +1 more source

Surgical Treatment Methods of Post-coarctation Aneurysms of Aorta

open access: yesУкраїнський журнал серцево-судинної хірургії, 2019
Introduction. Aortal coarctation is one of the most studied conditions of heart congenital defects, which comprises from 7% to 10% of all congenital heart defects. During many years the various treatment strategies were used.
I. M. Kravchenko   +5 more
doaj   +1 more source

Coarctation of the Aorta

open access: yesChonnam Medical Journal, 2023
Miyagawa, Masatsugu   +2 more
openaire   +2 more sources

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

open access: yesClinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil   +9 more
wiley   +1 more source

Circumaortic Left Brachiocephalic Vein with Coarctation of Aorta. [PDF]

open access: yesAnatol J Cardiol, 2023
Subramanian P, Sharma A, Singhal M.
europepmc   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

open access: yesClinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson   +22 more
wiley   +1 more source

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