«PYCNODYSOSTOSIS»に関連する英語の本
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pycnodysostosisの使いかたを見つけましょう。
pycnodysostosisに関する本と英語文献で使われた文脈を提供するための簡単な抜粋文。
1
Rare Genetic Disorders That Affect the Skeleton
Gelb BD, Edelson JG, Desnick RJ: Linkage of pycnodysostosis to chromosome
1q21 by homozygosity mapping. Nature Genet 10: 235-237, 1995. Gelb BD, Shi
GP, Chapman HA, Desnick RJ: Pycnodysostosis, a lysosomal disease caused by
...
H.J. Mankin, MD & K.P. Mankin, MD,
2013
2
Dynamics of Bone and Cartilage Metabolism: Principles and ...
B. Pycnodysostosis Pycnodysostosis is the skeletal dysplasia that perhaps
affected the French impressionist painter Henri de Toulouse-Lautrec (1864–1901
) [62]. More than 100 cases from 50 kindreds have been described since the
condition ...
Markus J. Seibel, Simon P. Robins, John P. Bilezikian,
2006
3
Mendelian Inheritance in Man: A Catalog of Human Genes and ...
Because cathepsin K (601 105), a cysteine protease gene that is highly
expressed in osteoclasts, maps to the same region as pycnodysostosis, Gelb et
al. (1996) sought mutations in the cathepsin K gene. They identified nonsense,
missense, ...
4
Dento/Oro/Craniofacial Anomalies and Genetics
B.D. Gelb, G.P. Shi, H.A. Chapman, R.J. Desnick, Pycnodysostosis, a lysosomal
disease caused by cathepsin K deficiency, Science 273 (5279) (1996) 1236–
1238. B.D. Gelb, E. Spencer, S. Obad, G.J. Edelson, S. Faure, J. Weissenbach, et
al., ...
Agnes Bloch-Zupan, Heddie Sedano, Crispian Scully,
2012
5
Peptide Hydrolases—Advances in Research and Application: ...
pycnodysostosis patients reported since 1996 and focused on the genetic
characteristics of CTSK mutations and/or the clinical phenotypes of
pycnodysostosis. Thirty three different CTSK mutations have been found in 59
unrelated ...
6
Primer on the Metabolic Bone Diseases and Disorders of ...
Maroteaux P, Lamy M 1965 The malady of Toulouse-Lautrec. JAMA 191:715-717
. Maroteaux P, Lamy M 1962 La pycnodysostose. Presse Med 70:999-1002. Gelb
BD, Bromme D, Desnick RJ 2001 Pycnodysostosis: Cathep— sin K deficiency.
7
Syndromes of the Head and Neck
Mandibuloacral dysplasia resembles pycnodysostosis in delayed closure of skull
sutures, wormian bones, and hypoplasia of terminal phalanges, but there is no
increase in bone density or aplasia of the mandibular angle. Instead there is ...
M.S. D.Sc. Regents' Professor Emeritus of Oral Pathology and Genetics at School of Dentistry Robert J. Gorlin D.D.S, D.M.D. M. Michael Cohen Jr., Ph.D. Professor Oral Pathology Faculty of Denistry, Ph.D. Department of Pediatrics and Medical Genetics Raoul C.M. Hennekam M.D., Academic Medical Center University of Amsterdam,
2001
Pycnodysostosis is an autosomal recessive osteochondrodysplasia
characterized by osteosclerosis and short stature, as well as deformity of the skull
, maxilla and phalanges, osteosclerosis, and bone fragility. The condition was
first described ...
Felix Bronner, Mary C. Farach-Carson, Janet Rubin,
2006
9
Genetics for Orthopedic Surgeons: The Molecular Genetic ...
Pycnodysostosis. MIM 265800 Clinical features These are relatively mild and
consist of a bulging cranium, persistent anterior fontanelle, micrognathia, short
terminal phalanges which show acro-osteolysis, dental maleruption and mild to ...
10
Apnea: New Insights for the Healthcare Professional: 2012 ...
“Pycnodysostosis (OMIM:265800) is an autosomal recessive genetic disorder
due to a mutation in the cathepsin K gene, which causes a decrease of the bone
turnover and a deterioration of the bone structure. Our aim was to describe a 5 ...
用語«PYCNODYSOSTOSIS»を含むニュース項目
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pycnodysostosisという用語がどのように使われているかを調べてみましょう。
The afflictions of Henri de Toulouse-Lautrec
There has been much debate as to their cause, with the consensus nowadays being pycnodysostosis, a hereditary autosomal recessive condition caused by a ... «The Pharmaceutical Journal, 11月 14»
Google Doodle: Η 150η επέτειος από τη γέννηση του Ανρί ντε …
Οι σύγχρονοι γιατροί αποδίδουν την πάθησή του σε άγνωστη γενετική διαταραχή, την οποία συχνά συνδέουν με την pycnodysostosis (που έγινε γνωστή ως ... «Ant1News, 11月 14»
Google Doodle Mengangkat Biografi Henri de Toulouse-Lautrec …
Kedokteran modern menemukan penyakit seniman Prancis ini sebagai kelainan genetik, kemungkinan pycnodysostosis ( juga kadang-kadang dikenal sebagai ... «Pewartaekbis.com, 11月 14»
Toulouse-Lautrec, Moulin Rouge: La Goulue (1891). Courtesy …
He was born with a rare disease, pycnodysostosis, which causes fragile bones and an extreme shortness of stature. He was a sickly child and he broke both ... «The Australian, 12月 12»