نتایج جستجو برای: maroteaux lamy syndrome

تعداد نتایج: 622119  

2005
Roy Ascott

« Since the 1960s, the British educator, artist, and theoretician Roy Ascott has been one of Europe's most active and outspoken practitioners of interactive computer art Ten years before the personal computer came into existence, Ascott saw that interactivity in computer-based forms of expression would be an emerging issue in the arts. Intrigued by the possibilities, he built a theoretical fram...

2015
R. C. Colaninno R. A. Howard

We present an update to the photometric calibration of the LASCO-C2 coronagraph onboard the SOHO spacecraft. We obtained the new calibration using data from the beginning of the mission in 1996 until 2013. We re-examined the LASCO-C2 photometric calibration by comparing the past three calibrations and the present calibration with the goal of validating an in-flight calibration. We find a photom...

2007
P. J. SCOTT

In 1950 Bassen and Kornzweig described a new syndrome when they reported the presence of irregular erythrocytes in an 18-year-old Jewish girl who had retinitis pigmentosa and a neurological disorder similar to Friedreich's ataxia. Several years later they described the same triad (abnormal erythrocytes, retinitis pigmentosa, and neuropathy) in the patient's brother (Kornzweig and Bassen, 1957)....

Journal: :Journal of medical genetics 2000
L Faivre M Le Merrer A Megarbane B Gilbert G Mortier V Cusin A Munnich P Maroteaux V Cormier-Daire

Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive disorder belonging to the group of acromesomelic dysplasias. AMDM is characterised by severe dwarfism with shortening of the middle and distal segments of the limbs. An AMDM gene has recently been mapped to human chromosome 9p13-q12 by homozygosity mapping in four consanguineous families. Here, we show linkage of the diseas...

Journal: :Journal of medical genetics 1971
M H Shokeir C S Houston C F Awen

Asphyxiating thoracic dystrophy of the newborn is a rare skeletal abnormality. Though the disease is generalized in distribution, the cartilaginous thoracic cage bears the brunt, with the results that the chest is narrow and immobile. The outcome is usually fatal early in the neonatal period. Less frequently the patients survive with severely impaired respiratory function only to succumb to rep...

2006
C. F. AWEN

Asphyxiating thoracic dystrophy of the newborn is a rare skeletal abnormality. Though the disease is generalized in distribution, the cartilaginous thoracic cage bears the brunt, with the results that the chest is narrow and immobile. The outcome is usually fatal early in the neonatal period. Less frequently the patients survive with severely impaired respiratory function only to succumb to rep...

Journal: :The Journal of bone and joint surgery. British volume 1978
D Jackson

A vertical talus is one feature of the rare congenital abnormality known as congenital convex pes valgus (Lamy and Weissman 1939), or rocker-foot (Hark 1950). Two cases of vertical talus deformity are described here associated with severe burn contractures. The position of the contractures suggests that the scarring is responsible for the deformities. If this is so, does the acquired abnormalit...

Journal: :The Journal of bone and joint surgery. British volume 1987
D N Quinton D Finlay R Butterworth

THE JOURNAL OF BONE AND JOINT SURGERY similar pattern of fracture (Roy-Camille et al. 1985), while stress fractures of the sacrum have been reported after radiotherapy for pelvic tumours (Cooper, Beabout and Swee 1985). Stress fracture of the sacrum is not a common cause of low back pain, hut should be considered in osteoporotic patients with appropriate symptoms and signs, since an early diagn...

Journal: :Human mutation 2013
Sophie R Wang Christina M Jacobsen Heather Carmichael Aaron B Edmund Jerid W Robinson Robert C Olney Timothy C Miller Jennifer E Moon Veronica Mericq Lincoln R Potter Matthew L Warman Joel N Hirschhorn Andrew Dauber

Based on the observation of reduced stature in relatives of patients with acromesomelic dysplasia, Maroteaux type (AMDM), caused by homozygous or compound heterozygous mutations in natriuretic peptide receptor-B gene (NPR2), it has been suggested that heterozygous mutations in this gene could be responsible for the growth impairment observed in some cases of idiopathic short stature (ISS). We e...

Journal: :Langmuir : the ACS journal of surfaces and colloids 2007
Juha-Matti I Alakoskela Paavo K J Kinnunen

1,2-Dimyristoyl-sn-glycero-3-phospho-rac-glycerol has been suggested to form at intermediate temperatures and at high concentrations in low-salt solutions as a continuous sponge phase (Heimburg, T.; Biltonen, R. L. Biochemistry 1994, 33, 9477-9488). In the present study, the changes in signals seen for a range of fluorescent probes during phase transformations of this phospholipid indicate cont...

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