UID:
almafu_9959076713202883
Format:
1 online resource (250 p.)
ISBN:
9786613153838
,
9781283153836
,
1283153831
,
9783805595957
,
3805595956
Series Statement:
Monographs in human genetics, vol. 19
Content:
Craniosynostosis - the premature fusion of the cranial sutures of an infant's skull - is a challenging and complex condition that can occur as part of a syndrome or in isolation. In the last two decades increased knowledge about the structure and function of the human genome has enabled the discovery of the molecular etiologies of most forms of syndromic craniosynostosis, which in turn has allowed for the analysis of normal and abnormal sutural biology from the atomic to the population-based level. In parallel with the increase in basic biological understanding, advances in clinical diagnosis
Note:
"113 figures, 32 in color, and 17 tables, 2011."
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Craniosynostosis : a historical overview / Solomon, B.D. (Bethesda, Md.); Collmann, H.; Kress, W. (Wurzburg); Muenke, M. (Bethesda, Md.) -- Discovery of MSX2 mutation in craniosynostosis : a retrospective view / Muller, U. (Giessen) -- Regulation of calvarial bone growth by molecules involved in the craniosynostoses / Benson, M.D.; Opperman, L.A. (Dallas Tex.) -- Signal transduction pathways and their impairment in syndromic craniosynostosis / Connerney, J.J. (Boston, Mass.); Spicer, D.B. (Scarborough, Me.) -- The molecular bases for FGF receptor activation in craniosynostosis and dwarfism syndromes / Beenken, A.; Mohammadi, M. (New York, N.Y.) -- Recurrent germline mutations in the FGFR2/3 genes, high mutation frequency, paternal skewing and age-dependence / Arnheim, N.; Calabrese, P. (Los Angeles, Calif.) -- Apert, Crouzon, and Pfeiffer syndromes / Cohen Jr., M.M. (Halifax, N.S.) -- Muenke syndrome / Solomon, B.D.; Muenke, M. (Bethesda, Md.) -- Saethre-Chotzen syndrome : clinical and molecular genetic aspects / Kress, W.; Collmann, H. (Wurzburg) -- Craniofrontonasal syndrome : molecular genetics, EFNB1 mutations and the concept of cellular interference / Wieland, I. (Magdeburg) --
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Uncommon craniosynostosis syndromes : a review of thirteen conditions / Raam, M.S. (Bethesda, Md./Chevy Chase, Md.); Muenke, M. (Bethesda, Md.) -- Metopic craniosynostosis syndrome due to mutations in GLI3 / McDonald-McGinn, D.M.; Feret, H.; Nah, H.-D.; Zackai, E.H. (Philadelphia, Pa.) -- Craniosynostosis and chromosomal alterations / Passos-Bueno, M.R.; Fanganiello, R.D.; Jehee, F.S. (Sao Paulo) -- Nonsyndromic craniosynostoses / Collmann, H. (Wurzburg); Solomon, B.D. (Bethesda, Md.); Schweitzer, T.; Kress, W. (Wurzburg); Muenke, M. (Bethesda, Md.) -- Molecular genetic testing of patients with craniosynostosis / Hehr, U. (Regensburg) -- Prenatal sonographic diagnosis of craniosynostosis / Schramm, T. (Munich) -- Clinical approach to craniosynostosis / Gripp, K.W. (Wilmington, Del.) -- Imaging studies and neurosurgical treatment / Collmann, H.; Schweitzer, T.; Bohm, H. (Wurzburg) -- Maxillofacial examination and treatment / Bohm, H.; Schweitzer, T.; Kubler, A. (Wurzburg).
,
English
Additional Edition:
ISBN 9783805595940
Additional Edition:
ISBN 3805595948
Language:
English
Subjects:
Medicine
Keywords:
Aufsatzsammlung
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