与 «PYCNODYSOSTOSIS»相关的英语书籍
在以下的参考文献中发现
pycnodysostosis的用法。与
pycnodysostosis相关的书籍以及同一来源的简短摘要提供其在 英语文献中的使用情境。
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 ...
包含词语«PYCNODYSOSTOSIS»的新条目
找出国内和国际出版社所讨论的内容，以及词语
pycnodysostosis在以下新条目的上下文中是如何使用的。
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, 十一月 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, 十一月 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, 十一月 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, 十二月 12»
