Ventricular septal defect (VSD) including outlet VSD of double outlet right ventricle (DORV) and perimembranous VSD are among the most common congenital heart diseases found at birth. HOXB1 encodes a...
- issue: 5 - volume: 45 - pages: 1507-1513.

Immunomodulatory drugs (IMiDs) are anticancer drugs with immunomodulatory, anti-angiogenesis, anti-proliferative, and pro-apoptotic properties. IMiDs are currently used for the treatment of multiple...
- issue: - volume: 9 - pages: 977.

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic disorder that leads to premature aging. In this study, we used induced pluripotent stem cells to investigate the hypopigmentation...
- issue: 1 - volume: 8 - pages: .

Background Since the 1970s, international research has actively pursued hormonal male contraception (HMC) and, to a lesser extent, thermal male contraception (TMC). Although the efficacy of TMC has...
- issue: 5 - volume: 13 - pages: e0195824.

We report the case of a 21-year old woman presenting with high blood pressure and raised normetanephrine levels. Indium-111-pentetreotide single photon-emission computed tomography with computed...
- issue: 6 - volume: 7 - pages: .

Discrimination between lymphoid blast crisis of chronic myeloid leukemia (CML) and de novo BCR-ABL1 positive acute lymphoblastic leukemia (ALL) represents a diagnostic challenge because this...
- issue: 1 - volume: 36 - pages: 344-348.

Seven cases of translocation-associated renal cell carcinoma involving ALK (ALK-tRCC) were referenced in the last World Health Organization's classification (2016), in a group of emerging/provisional...
- issue: - volume: 221 - pages: 31-37.

- issue: 3 - volume: 73 - pages: 287-289.

- issue: 11 - volume: 197 - pages: E22-E23.

The nuclear lamina (NL) is a filamentous protein meshwork, composed essentially of lamins, situated between the inner nuclear membrane and the chromatin. The NL is a component of the nuclear envelope,...
Basic Clin Androl - issue: - volume: 28 - pages: 7.

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: .

The syndromic diarrhea/trichohepatoenteric syndrome (SD/THE) is a rare and multi-system genetic disorder caused by mutation in SKIV2L or in TTC37, two genes encoding subunits of the putative human SKI...
- issue: - volume: 9 - pages: .

Despite advances in medical, surgical, and critical care, infective endocarditis (IE) remains associated with considerable morbidity and mortality. We evaluated the performance of the Marseille score,...
- issue: 5 - volume: 37 - pages: 841-849.

LHX3 is an LIM domain transcription factor involved in the early steps of pituitary ontogenesis. We report here functional studies of three allelic variants, including the first heterozygous variant...
- issue: 2 - volume: 27 - pages: 216-225.

Test yourself in this educational case establishing the nature of the cells present in a pleural effusion of a patient with history of previous skin cancer.
- issue: 6 - volume: 29 - pages: 587-589.

Neuroblastoma is the most common solid tumour of childhood, yet the prognosis for high risk disease remains poor. We demonstrate that arginine metabolism via Arginase 2 (ARG2) drives neuroblastoma...
- issue: - volume: - pages: .

Early myoclonic epilepsy (EME) or Aicardi syndrome is one of the most severe epileptic syndromes affecting neonates. We performed whole exome sequencing in a sporadic case affected by EME and his...
Hum. Mutat. - issue: 7 - volume: 39 - pages: 934-938.

Rett Syndrome is a severe neurological disorder mainly due to de novo mutations in the methyl-CpG-binding protein 2 gene ( MECP2). Mecp2 is known to play a role in chromatin organization and...
F1000Res - issue: - volume: 7 - pages: 398.

Objective: Rett Syndrome (RTT) is a severe neurodevelopmental condition with breathing disorders, affecting around one in 10,000 female births. Desipramine, a noradrenaline reuptake inhibitor, reduced...
Ann Clin Transl Neurol - issue: 2 - volume: 5 - pages: 118-127.

INTRODUCTION: A large number of genes involved in autosomal recessive forms of intellectual disability (ID) were identified over the past few years through whole-exome sequencing (WES) or whole-genome...
Eur. J. Hum. Genet. - issue: 1 - volume: 26 - pages: 143-148.