Zobrazeno 1 - 10
of 706
pro vyhledávání: '"F Hanefeld"'
Autor:
F. Hanefeld, K. Magdorf, M. Metzger, Jürgen Kunze, Rolf-Dieter Wegner, Nicolaas G. J. Jaspers, C. Baan, Karl Sperling
Publikováno v:
Clinical Genetics. 33:20-32
Two sisters with a complex clinical pattern, including microcephaly, microgenia, defects of skin pigmentation, anal stenosis/atresia, and combined immunodeficiency together with spontaneous chromosomal instability and cellular hypersensitivity to X-r
Publikováno v:
Developmental Medicine & Child Neurology. 42:122-132
Publikováno v:
HNO. 51:654-657
Das Levy-Hollister-Syndrom ist gekennzeichnet durch extrem variabel ausgepragte Dysplasien im Bereich verschiedener Organsysteme. Ein autosomal-dominanter Erbgang ist bekannt, die meisten Falle treten jedoch sporadisch auf. Auf dem Gebiet der Hals-,
Publikováno v:
The Journal of Pediatrics. 142:332-335
Objective We reevaluated 49 girls with either Rett syndrome (RTT) or features of RTT who had negative test results for mutations in the MECP2 gene and compared them with 49 girls who had positive test results. The girls with MECP2-positive results in
Publikováno v:
Neuropediatrics. 33:327-330
Objectives The present study investigates the effect of topical injections of botulinum toxin A into the cephalic salivary glands of children with chronic hypersalivation due to neurodegenerative diseases. Methods Five children with hypersalivation d
Publikováno v:
Human Mutation. 17:183-190
Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked dominant neurodevelopmental disease. We investigated 125 sporadic cases of Rett syndrome by direct sequencing. Thirty diffe
Publikováno v:
Journal of Applied Physiology. 89:2015-2022
Aminophylline is a respiratory stimulant commonly used for the treatment of central apnea. Experiences from clinical practice, however, revealed that aminophylline is not reliably effective in preterm infants, whereas it is normally effective in infa
Publikováno v:
British Journal of Dermatology. 142:1204-1207
The lines of Blaschko represent one of the cutaneous patterns of mosaicism followed by various skin disorders. Developmental abnormalities affecting other tissues derived from the embryonic ectoderm and mesoderm are occasionally associated. We descri