Indexed keywords
ADOLESCENT;
ARTICLE;
AUTOSOMAL RECESSIVE DISORDER;
BRAIN CALCIFICATION;
CASE REPORT;
CHILD;
CHILDHOOD DISEASE;
COMPUTER ASSISTED TOMOGRAPHY;
DYSPNEA;
FEMALE;
FOLLOW UP;
HEADACHE;
HUMAN;
KEUTEL SYNDROME;
MAGNETIC RESONANCE ANGIOGRAPHY;
MALE;
MOYAMOYA DISEASE;
NEUROIMAGING;
NEUROLOGIC DISEASE;
NUCLEAR MAGNETIC RESONANCE IMAGING;
PINNA CARTILAGE CALCIFICATION;
PRESCHOOL CHILD;
PRIORITY JOURNAL;
RETROSPECTIVE STUDY;
SCHOOL CHILD;
SEIZURE;
SIBLING;
SOFT TISSUE CALCIFICATION;
VISUAL IMPAIRMENT;
WHITE MATTER;
ABNORMALITIES, MULTIPLE;
ADOLESCENT;
CALCINOSIS;
CARTILAGE DISEASES;
CHILD;
CHILD, PRESCHOOL;
FEMALE;
HAND DEFORMITIES, CONGENITAL;
HUMANS;
INFANT;
MALE;
MOYAMOYA DISEASE;
NEUROIMAGING;
PULMONARY VALVE STENOSIS;
REPRODUCIBILITY OF RESULTS;
SENSITIVITY AND SPECIFICITY;
1
0032581049
Keutel syndrome: Further characterization and review
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Teebi, A.S.1
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Kaye, G.M.3
2
0032902338
Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome
1:CAS:528:DyaK1MXltlWitw%3D%3D 9916809 10.1038/5102
Munroe PB, Olgunturk RO, Fryns JP et al (1999) Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome. Nat Genet 21:142-144
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Nat Genet , vol.21
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Munroe, P.B.1
Olgunturk, R.O.2
Fryns, J.P.3
3
18244394309
A novel MGP mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome
15810001 10.1002/ajmg.a.30680
Hur DJ, Raymond GV, Kahler SG et al (2005) A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. Am J Med Genet A 135:36-40
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Hur, D.J.1
Raymond, G.V.2
Kahler, S.G.3
4
33645744093
Petrified ears in a patient with Keutel syndrome: Temporal bone CT findings
16328322 10.1007/s00247-005-0036-7
Parmar H, Blaser S, Unger S et al (2006) Petrified ears in a patient with Keutel syndrome: temporal bone CT findings. Pediatr Radiol 36:241-243
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Parmar, H.1
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5
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Auricular ossificans (ectopic ossification of the auricle)
12833029 10.1067/mjd.2003.320
Stites PC, Boyd AS, Zic J (2003) Auricular ossificans (ectopic ossification of the auricle). J Am Acad Dermatol 49:142-144
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Stites, P.C.1
Boyd, A.S.2
Zic, J.3
6
0034960301
Tracheobronchial stenosis in Keutel syndrome
1:STN:280:DC%2BD38%2Fht1KgtQ%3D%3D 11405537 10.1183/09031936.01.17305660
Meier M, Weng LP, Alexandrakis E et al (2001) Tracheobronchial stenosis in Keutel syndrome. Eur Respir J 17:566-569
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Meier, M.1
Weng, L.P.2
Alexandrakis, E.3
7
0030947025
Spontaneous calcification of arteries and cartilage in mice lacking matrix GLA protein
1:CAS:528:DyaK2sXhslCnsLk%3D 9052783 10.1038/386078a0
Luo G, Ducy P, McKee MD et al (1997) Spontaneous calcification of arteries and cartilage in mice lacking matrix GLA protein. Nature 386:78-81
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Luo, G.1
Ducy, P.2
McKee, M.D.3
8
84857293493
Epigenetic control of smooth muscle cell differentiation and phenotypic switching in vascular development and disease
1:CAS:528:DC%2BC38XjvFynsbw%3D 10.1146/annurev-physiol-012110-142315
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9
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Mechanisms of arterial remodeling: Lessons from genetic diseases
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Front Genet , vol.3
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Van Varik, B.J.1
Rennenberg, R.J.2
Reutelingsperger, C.P.3
10
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Moyamoya disease and syndrome
9409403 10.1016/S0303-8467(97)00057-7
Hoffman HJ (1997) Moyamoya disease and syndrome. Clin Neurol Neurosurg 99:S39-44
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11
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Moyamoya disease and moyamoya syndrome
1:CAS:528:DC%2BD1MXjtlertr4%3D 19297575 10.1056/NEJMra0804622
Scott RM, Smith ER (2009) Moyamoya disease and moyamoya syndrome. N Engl J Med 360:1226-1237
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