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fragile
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Book Chapter
Series: Biovalley Monographs
Volume: 3
Published: 28 August 2012
10.1159/000339190
EISBN: 978-3-8055-9066-2
... Abstract Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and a leading cause of autism. The identification of the mutation underlying the disease two decades ago has allowed the generation of a mouse model, the Fmr1 knock-out, which presents behavioral...
Book Chapter
Series: Contributions to Oncology
Volume: 41
Published: 29 January 1991
10.1159/000419229
EISBN: 978-3-318-03424-0
Book Chapter
Series: Contributions to Oncology
Volume: 41
Published: 29 January 1991
10.1159/000419230
EISBN: 978-3-318-03424-0
... Abstract ZusammenfassungDie Chromosomen der Blutlymphozyten von 6 Patienten mit Neuroblastom unterschiedlicher Stadien wurden unter folsäurearmen Kulturbedingungen untersucht. Bei allen Patienten konnte die Expression einer «fragile site» am Chromosom 1p13 beobachtet werden. Unter gleichen...
Book Chapter
Published: 03 December 1985
10.1159/000412585
EISBN: 978-3-318-04693-9
Book Chapter
Published: 08 February 1984
10.1159/000408691
EISBN: 978-3-318-04322-8
Book Chapter
Published: 08 February 1984
10.1159/000408693
EISBN: 978-3-318-04322-8
Book Chapter
Published: 08 February 1984
10.1159/000408694
EISBN: 978-3-318-04322-8
Book Chapter
Series: Frontiers of Hormone Research
Volume: 46
Published: 23 May 2016
10.1159/000443866
EISBN: 978-3-318-05840-6
... Abstract Skeletal fragility is a frequent complication of endogenous hypercortisolism, and fragility fractures may be the first clinical manifestation of the disease. Fractures involve more frequently the vertebrae and may occur in 30-50% of the patients exposed to glucocorticoid excess...
Book Chapter
Series: Frontiers of Hormone Research
Volume: 52
Published: 05 February 2019
10.1159/000493237
EISBN: 978-3-318-06383-7
... Abstract Chronic hyponatremia may not cause overt symptoms, and therefore frequently remains untreated. More recently, growing evidence indicate that this condition is not benign, and can lead to unsteady gait, deterioration of bone mass and strength, increased fragility, and increased all...
Book Chapter
Series: Endocrine Development
Volume: 28
Published: 11 June 2015
10.1159/000380992
EISBN: 978-3-318-05467-5
... Abstract This section gives an overview of radiological findings in bony fragility states, with a special focus on osteogenesis imperfecta (OI) and rickets. Conventional radiological assessment of bone density is inaccurate and imprecise and only reliably detects severe osteopaenia. However...
Book Chapter
Series: Biovalley Monographs
Volume: 3
Published: 28 August 2012
EISBN: 978-3-8055-9066-2
...References References 1. Berry-Kravis E, Grossman AW, Crnicc LS, Greenough WT: Understanding fragile X syndrome. Current Pediatrics 2002;12:316-324 2. Hagerman RJ, Hagerman PJ: Fragile X Syndrome: Diagnosis, Treatment and Research. Baltimore, The John Hopkins University Press 2002; 3...
Book Chapter
Series: Medicine and Sport Science
Volume: 51
Published: 31 May 2007
10.1159/000103012
EISBN: 978-3-318-01459-4
... Abstract Regular weight-bearing exercise, especially during the pre- or early peripubertal years,leads to substantial benefits in bone mass and skeletal structure, enhancing bone strength atloaded sites. However, few fragility fractures occur in young adulthood, and only...
Book Chapter
Series: Monographs in Oral Science
Volume: 32
Published: 20 August 2024
10.1159/000538865
EISBN: 978-3-318-07248-8
... of porosity in the structure. The increase in porosity of the structure may be associated with dental hypersensitivity, a common clinical repercussion among patients with MIH. Among the mechanical properties, a decrease in hardness and modulus of elasticity occurs, and this also makes the enamel more fragile...
Book Chapter
Series: Monographs in Oral Science
Volume: 32
Published: 20 August 2024
10.1159/000538871
EISBN: 978-3-318-07248-8
... with higher protein content than nonaffected enamel. The fact that the hypomineralised enamel is more fragile than the nonaffected enamel is supported not only by laboratorial findings but also by clinical prospective studies that observed an aggravation of MIH over time, as well as the correlation between...
Book Chapter
Series: Medicine and Sport Science
Volume: 51
Published: 31 May 2007
10.1159/000103005
EISBN: 978-3-318-01459-4
... Abstract The amount of bone mineral mass acquired at the end of growth, the so-called ‘peakbone mass’, is considered to be a major risk factor for the occurrence of fragility fractures duringadult life. Many interrelated factors can influence the accumulation of bone mass duringgrowth...
Book Chapter
Series: Current Studies in Hematology and Blood Transfusion
Volume: 10
Published: 22 October 1959
10.1159/000426290
EISBN: 978-3-318-03472-1
... liter of RBC. 1 % of RBC potassium was lost.Hypotonic osmotic fragility studies showed a progressive decrease in resistance to hypotonic saline during a three hours' period of glucose exposure. Re-equilibration with plasma resulted in a normal osmotic fragility curve for 80 % with abnormal fragility...
Book Chapter
Series: Key Issues in Mental Health
Volume: 180
Published: 11 February 2015
EISBN: 978-3-318-02602-3
.... Shcheglovitov A, Shcheglovitova O, Yazawa M, Portmann T, Shu R, Sebastiano V, et al: SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients. Nature 2013;503:267-271. 24. Reiss AL, Freund L: Behavioral phenotype of fragile X syndrome: DSM-III-R autistic behavior in male...
Book Chapter
Series: Endocrine Development
Volume: 28
Published: 11 June 2015
10.1159/000381047
EISBN: 978-3-318-05467-5
... will sustain a fracture before 18 years of age, with the distal radius being the most common site [ 3 ]. Of those who fracture, 15-20% will have two or more fractures during childhood. A small percentage of these individuals will have underlying bone fragility and require investigation and treatment...
Book Chapter
Series: Monographs in Human Genetics
Volume: 18
Published: 15 February 2010
EISBN: 978-3-8055-9281-9
.... Am J Med Genet A 2006;140:331-339 50. Crawford DC, Acuna JM, Sherman SL: FMR1 and the fragile X syndrome: human genome epidemiology review. Genet Med 2001;3:359-371 51. Fisch GS, Simensen RJ, Schoroer RJ: Longitudinal changes in cognitive and adaptive behavior scores in children...
Book Chapter
Series: Current Problems in Dermatology
Volume: 54
Published: 21 August 2018
10.1159/000489527
EISBN: 978-3-318-06385-1
... Abstract Several epidermal barrier functions, like skin barrier regeneration and antimicrobial response, are related to the acidic nature of the skin surface pH (ss-pH). However, the epidermal acidification is known to be fragile and it is commonly accepted that cosmetic products, especially...
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