OBJECTIVE: The aim of this study was to describe the quality of life (QoL) of children with a chronic illness treated in a tertiary multidisciplinary pediatric department in comparison with the...
Arch Pediatr - issue: 7 - volume: 31 - pages: 439-445.

Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium...
Orphanet J Rare Dis - issue: 1 - volume: 19 - pages: 357.

CONTEXT: Renin is a marker of blood volume. There is no consensus on the validity of plasma renin measurement for adjusting mineralocorticoid (MC) substitution in patients with primary adrenal...
J Endocr Soc - issue: 11 - volume: 8 - pages: bvae174.

Abstract Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) is the leading cause of childhood chronic kidney failure and a significant cause of chronic kidney disease in adults....
Sci Rep - issue: 1 - volume: 14 - pages: 20731.

Skeletal muscles of the head and trunk originate in distinct lineages with divergent regulatory programmes converging on activation of myogenic determination factors. Branchiomeric head and neck...
Development - issue: 16 - volume: 151 - pages: dev202905.

The gold standard for facioscapulohumeral muscular dystrophy (FSHD) genetic diagnostic procedures was published in 2012. With the increasing complexity of the genetics of FSHD1 and 2, the increase of...
Clin Genet - issue: 1 - volume: 06 - pages: 13-26.

PURPOSE: Multiple endocrine neoplasia type 1 (MEN1) is thought to increase the risk of meningioma and ependymoma. Thus, we aimed to describe the frequency, incidence, and specific clinical and...
Clin Cancer Res - issue: 13 - volume: 30 - pages: 2835-2845.

CONTEXT: Germline CDKN1B variants predispose patients to multiple endocrine neoplasia type 4 (MEN4), a rare MEN1-like syndrome, with <100 reported cases since its discovery in 2006. Although CDKN1B...
J Clin Endocrinol Metab - issue: 7 - volume: 109 - pages: e1482-e1493.

Background: Dilated cardiomyopathy (DCM) is characterized by dilatation of the left ventricle, systolic dysfunction, and normal or reduced thickness of the left ventricular wall. It is a leading cause...
Mol Genet Genomic Med - issue: - volume: 6 - pages: e2486.

Biomechanical forces, and their molecular transducers, including key mechanosensitive transcription factor genes, such as KLF2, are required for cardiac valve morphogenesis. However, klf2 mutants fail...
Sci Adv - issue: 10 - volume: 20 - pages: eadl0633.

Background and aims: Presentation, outcome, and management of females with degenerative mitral regurgitation (DMR) are undefined. We analysed sex-specific baseline clinical and echocardiographic...
Eur Heart J - issue: - volume: - pages: ehae265.

Abstract Muscular dystrophies (MDs) are inherited genetic diseases causing weakness and degeneration of muscles. The distribution of muscle weakness differs between MDs, involving distal...
Sci Rep - issue: 1 - volume: 14 - pages: 11225.

Environmental factors are external conditions that can affect the health of living organisms. For a number of rare genetic diseases, an interplay between genetic and environmental factors is known or...
SoftwareX - issue: - volume: 26 - pages: 101701.

OBJECTIVE: YWHAG variant alleles have been associated with a rare disease trait whose clinical synopsis includes an early onset epileptic encephalopathy with predominantly myoclonic seizures,...
Epilepsia - issue: 5 - volume: 65 - pages: 1439-1450.

Multiple endocrine neoplasia (MEN) is a group of syndromes with a genetic predisposition to the appearance of endocrine tumors, and shows autosomal dominant transmission. The advent of molecular...
Ann Endocrinol (Paris) - issue: 2 - volume: 85 - pages: 127-135.

Due to their biocompatibility and biodegradability and their unique structural and physicochemical properties, laser-synthesized silicon nanoparticles (Si-NPs) are one of the nanomaterials which have...
Nanoscale Adv - issue: 8 - volume: 6 - pages: 2104-2112..

Intellectual Disability (ID) is the major cause of handicap, affecting nearly 3% of the general population, and is highly genetically heterogenous with more than a thousand genes involved. Exome...
Hum Mol Genet - issue: 6 - volume: 33 - pages: 520-529.

INTRODUCTION: The prevalence of type 1 diabetes is increasing worldwide. The advent of new monitoring devices has enabled tighter glycemic control. AIM: To study the impact of glucose monitoring...
Prim Care Diabetes - issue: 1 - volume: 18 - pages: 91-96.

Eccrine sweat glands are indispensable for human thermoregulation and, similar to other mammalian skin appendages, form from multipotent epidermal progenitors. Limited understanding of how epidermal...
Dev Cell - issue: 1 - volume: 59 - pages: 20-32.e6.

Summary: Network biology is an interdisciplinary field bridging computational and biological sciences that has proved pivotal in advancing the understanding of cellular functions and diseases across...
- issue: 1 - volume: 4 - pages: vbae099.