Objective Dysferlin is a large transmembrane protein that functions in critical processes of membrane repair and vesicle fusion. Dysferlin-deficiency due to mutations in the dysferlin gene leads to...
Ann. Clin. Transl. Neurol. - issue: 4 - volume: 6 - pages: 642-654.

Objective: Dysferlin is a large transmembrane protein that functions in critical processes of membrane repair and vesicle fusion. Dysferlin-deficiency due to mutations in the dysferlin gene leads to...
Ann Clin Transl Neurol - issue: 4 - volume: 6 - pages: 642-654.

We report a consanguineous family where 2 boys presented with developmental delay, hypotonia, microcephaly, seizures, gastro-intestinal abnormalities, osteopenia, and neurological regression. Whole...
Eur J Med Genet - issue: 4 - volume: 62 - pages: 259-264.

Acromegaly can impair quality of life, but impact on patients' daily life, needs and expectations have been poorly explored. Objectives. - To better understand the impact of acromegaly on patients'...
- issue: 2 - volume: 80 - pages: 110-116.

The authors reported 2 cases of functioning gonadotroph pituitary adenoma (FGPA) revealed by an ovarian hyperstimulation syndrome (OHSS) in young women. In the first case, OHSS was observed after GnRH...
- issue: 2 - volume: 80 - pages: 122-127.

The rate of contraction of the heart relies on proper development and function of the sinoatrial node, which consists of a small heterogeneous cell population, including Tbx3(+) pacemaker cells. Here,...
- issue: 8 - volume: 146 - pages: .

Objective: Dysferlin is a large transmembrane protein that functions in critical processes of membrane repair and vesicle fusion. Dysferlin-deficiency due to mutations in the dysferlin gene leads to...
Ann Clin Transl Neurol - issue: 4 - volume: 6 - pages: 642-654.

Purpose: Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences. Methods: We...
- issue: 4 - volume: 21 - pages: 837-849.

- issue: 4 - volume: 137 - pages: 679-682.

We report a consanguineous family where 2 boys presented with developmental delay, hypotonia, microcephaly, seizures, gastro-intestinal abnormalities, osteopenia, and neurological regression. Whole...
- issue: 4 - volume: 62 - pages: 259-264.

- issue: 2 - volume: 33 - pages: 239-240.

Immunotherapy induced side effects: Are frequent, usually well-tolerated, and can lead to thyroid, pituitary, and less frequently adrenals and pancreas (fulminant diabetes) disease,. Do not...
- issue: 2 - volume: 23 - pages: 31-36.

The components of the cardiac conduction system, responsible for coordinated activation of the heart chambers, are well defined and their cells differ in gene expression profile and phenotype from...
Biochim Biophys Acta Mol Cell Res - issue: 3 - volume: 1867 - pages: 118509.

Cardiac diseases, characterized by cardiomyocyte loss, lead to dramatic impairment of cardiac function and ultimately to congestive heart failure. Despite significant advances, conventional treatments...
Biochim Biophys Acta Mol Cell Res - issue: - volume: - pages: .

- issue: 4 - volume: 119 - pages: 479-488.

Background and Objectives Soft tissue sarcoma localization in distal extremities (DESTS) of the limbs (hand/fingers, and foot/toes) is unusual. The literature is scarce about their behavior and this...
- issue: 4 - volume: 119 - pages: 479-488.

We review here some of the historical highlights in exploratory studies of the vertebrate embryonic structure known as the neural crest. The study of the molecular properties of the cells that it...
Development - issue: - volume: 146(5) - pages: dev.169821.

Context: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical manifestations, of which the...
- issue: 3 - volume: 104 - pages: 753-764.

We review here some of the historical highlights in exploratory studies of the vertebrate embryonic structure known as the neural crest. The study of the molecular properties of the cells that it...
- issue: - volume: - pages: .

PurposeTo explore the effects of pegvisomant (PEGV) on glucose metabolism in patients with acromegaly within ACROSTUDY, an international, observational, prospective safety surveillance...
- issue: 3 - volume: 63 - pages: 563-572.