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pro vyhledávání: '"E. Steichen-Gersdorf"'
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Publikováno v:
Clinical genetics. 92(1)
The semaphorins constitute a large family of secreted and membrane-associated proteins that regulate many developmental processes, including neural circuit assembly, bone formation and angiogenesis. Recently, bi-allelic loss-of-function variants in S
Autor:
Raoul C.M. Hennekam, Tim Cundy, E. Steichen-Gersdorf, Shauna Heeger, J. A. Batch, Andrea Superti-Furga, Francis H. Glorieux, Leena Peltonen, R. B. Slee, E. Lemyre, A. Kohlschuetter, Bjorn R. Olsen, W. Swoboda, A. Jans, M. J. van den Boogaard, Bernhard Zabel, Konrad Oexle, Graeme C.M. Black, M. Zacharin, B. Floege, Han G. Brunner, Rajkumar Ramesar, Wafaa M. Suwairi, Sergio Roman-Roman, Jose Marcelino, C. Borrone, Anthony M. Reginato, J. Allgrove, Beth A. Sullivan, A. De Paepe, Matthew L. Warman, H. Somer, Beat Steinmann, M. Arslan-Kirchner, Georges Rawadi, W. Van Hul, K. Keppler-Noreuil, W. N. Adkins, G. Sabatakos, Bruno Dallapiccola, Chong Ae Kim, Naomi Fukai, Dorit Lev, Tatsuo Hirose, Miikka Vikkula, Marcela Votruba, Teresa Garcia, M. Lambert, M. L. Halfhide, R. G. Boles, Roland Baron, G. F. Carle, H. W. Wang, L. M. Boon, M. Romanengo, Harald Jüppner, T. Letteboer, Barbara Hall, Peter Beighton, Yaoqin Gong, Didier Lacombe, Suneel S. Apte
Publikováno v:
Cell
Cell, 2001, 107 (4), pp.513-23
Cell, 107, 513--23
Cell, Elsevier, 2001, 107 (4), pp.513-23
Cell, 107(4), 513-523. Cell Press
Cell, 107, 4, pp. 513--23
Cell, 2001, 107 (4), pp.513-23
Cell, 107, 513--23
Cell, Elsevier, 2001, 107 (4), pp.513-23
Cell, 107(4), 513-523. Cell Press
Cell, 107, 4, pp. 513--23
Item does not contain fulltext In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth. Mutations in LR
Publikováno v:
British Journal of Cancer
Medulloblastoma is the most frequent paediatric brain tumour. Because of the uniform histology, a common genetic mechanism has been postulated. Loss of heterozygosity (LOH) studies support evidence that a candidate gene, which functions as a tumour-s
Autor:
Wolfgang Sperl, Eduard Paschke, E. Steichen-Gersdorf, G. Bart, I. Baldissera, Marie T. Vanier, H. Christomanou
Publikováno v:
Journal of Inherited Metabolic Disease. 17:93-103
We report a family with six patients suffering from a sphingomyelinase-deficient form of Niemann-Pick disease, all presenting with a visceral course of the disease. Retinal changes classified as macular halos in four members indicated neuronal storag
Autor:
Thaddaeus Gotwald, E Steichen-Gersdorf, Sabine Scholl-Bürgi, C Vianey-Saban, Daniela Karall, Dieter Kotzot, Edda Haberlandt, U. Albrecht, C Sergi
Publikováno v:
Neuropediatrics. 39
Publikováno v:
Zeitschrift für Geburtshilfe und Neonatologie. 212
Publikováno v:
European Journal of Pediatrics. 151:861-863
A family with a history of cavernous angiomas of the brain was investigated by MRI. The disease was present in four generations of the family and is consistent with autosomal dominant inheritance. Among affected individuals, there was considerable va
Autor:
Cameron T. C. Kennedy, Issam A. Awad, R. Sabroe, Louis J. Ptáček, Gabrielle Mettler, Gary K. Steinberg, A. Fryer, Richard P. Lifton, R. M. Scott, Murat Gunel, H. D. Craig, S. C. Crawford, Eric W. Johnson, Christopher S. Ogilvy, O. Cepeda, Michel J. Berg, M. J. Beis, E. Steichen-Gersdorf
Publikováno v:
Human molecular genetics. 7(12)
Cerebral cavernous malformation (CCM) is a Mendelian model of stroke, characterized by focal abnormalities in small intracranial blood vessels leading to hemorrhage and consequent strokes and/or seizures. A significant fraction of cases is inherited
Publikováno v:
Clinical dysmorphology. 6(2)
We had the opportunity to investigate the early abnormalities of the eyes in a family with osteoporosis-pseudoglioma syndrome. This syndrome combines severe premature osteoporosis with a bilateral eye disorder, leading to early onset blindness. Using