Silver-Russell syndrome (SRS) (mainly secondary to 11p15 molecular disruption) and Temple syndrome (TS) (secondary to 14q32.2 molecular disruption) are imprinting disorders with phenotypic (prenatal...
- issue: 7 - volume: 103 - pages: 2436 - 2446.

With the rapidly developing high-throughput sequencing technologies known as next generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically changed. In <10 years, these...
- issue: W1 - volume: 46 - pages: W545-W553.

Signaling interactions between the myocardium and endocardium pattern embryonic cardiac regions, instructing their development to fulfill specific functions in the mature heart. We show that ectopic...
- issue: 13 - volume: 145 - pages: .

- issue: - volume: - pages: .

BACKGROUND: Hypophysectomy performed by craniotomy or percutaneous techniques leads to complete pain relief in more than 70% to 80% of cases for opioid refractory cancer pain. Radiosurgery could be...
Neurosurgery - issue: 1 - volume: 83 - pages: 146-153.

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...
Mol. Biol. Rep. - issue: - volume: - pages: .

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...
Sci Rep - issue: 1 - volume: 8 - pages: 9112.

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...
Sci Rep - issue: 1 - volume: 8 - pages: 9112.

Talc pleurodesis is used to avoid recurrences in malignant pleural effusions or pneumothorax. The lack of lung sliding detected by chest ultrasonography (CUS) after talc application is indicative of...
- issue: 2 - volume: 4 - pages: 00158-2017.

Although cardiac neural crest cells are required at early stages of arterial valve development, their contribution during valvular leaflet maturation remains poorly understood. Here, we show in mouse...
Development - issue: 1 - volume: 145 - pages: pii: dev151944.

ClinicalTrials.gov NCT01202916;Post-results.
- issue: - volume: - pages: 1026-1036.

Members of the large family of Hox transcription factors are encoded by genes whose tightly regulated expression in development and in space within different embryonic tissues confer positional...
- issue: 6-7 - volume: 56 - pages: e23221.

Tricho-Hepato-Enteric syndrome (THES) is a very rare autosomal recessive syndromic enteropathy caused by mutations of either TTC37 or SKIV2L genes. Very little is known of these two gene products in...
- issue: 6 - volume: 39 - pages: 774-789.

Clinical and molecular genetics have advanced current knowledge on genetic disorders associated with autism. A review of diverse genetic disorders associated with autism is presented and for the first...
- issue: - volume: 89 - pages: 132-150.

Background: adrenal tumor-to-liver uptake value (Tmx:Lmx) on F-18-FDG PET/CT is an accurate and reproducible PET parameter in the distinction between benign and malignant adrenal masses. The potential...
- issue: 2 - volume: 27 - pages: 231-235.

With fewer than 200 reported cases, Cushing's syndrome (CS) in pregnancy remains a diagnostic and therapeutic challenge. In normal pregnancies, misleading signs may be observed such as striae or...
- issue: 6 - volume: 178 - pages: R259-R266.

Tricho-Hepato-Enteric syndrome (THES) is a very rare autosomal recessive syndromic enteropathy caused by mutations of either TTC37 or SKIV2L genes. Very little is known of these two gene products in...
Hum. Mutat. - issue: 6 - volume: 39 - pages: 774-789.

BACKGROUND: adrenal tumor-to-liver uptake value (Tmx:Lmx) on (18)F-FDG PET/CT is an accurate and reproducible PET parameter in the distinction between benign and malignant adrenal masses. The...
Surg Oncol - issue: 2 - volume: 27 - pages: 231-235.

With fewer than 200 reported cases, Cushing's syndrome (CS) in pregnancy remains a diagnostic and therapeutic challenge. In normal pregnancies, misleading signs may be observed such as striae or...
Eur J Endocrinol - issue: 6 - volume: 178 - pages: R259-R266.

Signaling interactions between myocardium and endocardium pattern embryonic cardiac regions, instructing their development to fulfill specific functions in the mature heart. We show that ectopic Bmp2...
Development - issue: 13 - volume: 145 - pages: pii: dev163378..