[HTML][HTML] Jeune syndrome: description of 13 cases and a proposal for follow-up protocol

J De Vries, JL Yntema, CE Van Die, N Crama… - European journal of …, 2010 - Springer
Jeune syndrome (asphyxiating thoracic dystrophy, ATD) is a rare autosomal recessive
skeletal dysplasia characterized by a small, narrow chest and variable limb shortness with a …

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal …

…, L Duijkers, RD Emes, J Stalker, JBL Yntema… - Journal of medical …, 2013 - jmg.bmj.com
Background Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively
inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes …

Multi-azole-resistant Aspergillus fumigatus in the environment in Tanzania

…, C Sharma, M van den Boom, JB Yntema… - Journal of …, 2014 - academic.oup.com
… Jan Bart Yntema , Jan Bart Yntema … Anuradha Chowdhary, Cheshta Sharma, Mara van
den Boom, Jan Bart Yntema, Ferry Hagen, Paul E. Verweij, Jacques F. Meis, Multi-azole-resistant …

Overlap, common features, and essential differences in pediatric granulomatous inflammatory bowel disease

…, JJM Tolboom, A Warris, JB Yntema… - Journal of pediatric …, 2010 - journals.lww.com
Overlap in the clinical presentation of pediatric granulomatous inflammatory bowel disease
may be substantial, depending on the mode of presentation. Chronic granulomatous disease …

Clinical aspects of type 1 posterior laryngeal clefts: literature review and a report of 31 patients

HP van der Doef, JB Yntema… - The …, 2007 - Wiley Online Library
Objectives: The clinical relevance of posterior laryngeal clefts (PLCs) of type 1 has only
recently been highlighted in the medical literature. We present a review of the literature and a …

Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene

…, GJ Breedveld, S Wouda, BJ Otten, JL Yntema… - European journal of …, 2005 - Springer
A 23-year-old man was diagnosed with pulmonary alveolar proteinosis at the age of 11
months, and primary hypothyroidism gradually developed during infancy. He had delayed …

The potential of a portable, point-of-care electronic nose to diagnose tuberculosis

…, NJ de Romero, M Bruins, R Gómez, JB Yntema… - Journal of Infection, 2017 - Elsevier
Introduction Tuberculosis (TB) is the leading cause of death due to an infectious disease
worldwide. Especially in low-income countries, new diagnostic techniques that are accessible, …

Biomarkers in exhaled breath condensate indicate presence and severity of cystic fibrosis in children

…, D Van Vliet, Q Jöbsis, JBL Yntema… - Pediatric Allergy and …, 2008 - Wiley Online Library
Chronic airway inflammation is present in cystic fibrosis (CF). Non‐invasive inflammometry
may be useful in disease management. The aim of the present cross‐sectional study was to …

Half-life of 60Fe

…, M Paul, KE Rehm, RK Smither, JL Yntema… - Nuclear Instruments and …, 1984 - Elsevier
The half-life of 60 Fe has been measured to be T 1 2 = (1.49 ± 0.27) × 10 6 a, significantly
longer than the one previous measurement of Roy and Kohman which reported a value of 3 × …

[HTML][HTML] Molecular typing and colonization patterns of Aspergillus fumigatus in patients with cystic fibrosis

HA de Valk, CHW Klaassen, JB Yntema… - Journal of Cystic …, 2009 - Elsevier
Aspergillus fumigatus is a chronic colonizer of the respiratory tract of patients with cystic fibrosis
(CF). A total of 204 A. fumigatus isolates from 36 CF patients from three different medical …