Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Autor: Hans van Bokhoven, John M. Opitz, Andrea Leitch, Stephen Brown, Jumana Y. Al-Aama, Michael B. Bober, Paul A.J. Brown, Salim Aftimos, Annick Toutain, Murray Feingold, Andrew P. Jackson, Jeroen Schoots, Ernie M.H.F. Bongers, John Dean, Alison Ross, Margaret E. Harley, I. Karen Temple, Michael Wright, Lies H. Hoefsloot, Alan Fryer, Alaa Y Edrees, James MacKenzie, Louise S. Bicknell, Carol Wise, Nine V A M Knoers, Pierre Sarda, Nikolaus Kau

Publikováno v: Nature genetics
Nature Genetics, 43(4), 356-359. Nature Publishing Group
Bicknell, L S, Bongers, E M H F, Leitch, A, Brown, S, Schoots, J, Harley, M E, Aftimos, S, Al-Aama, J Y, Bober, M, Brown, P A J, van Bokhoven, H, Dean, J, Edrees, A Y, Feingold, M, Fryer, A, Hoefsloot, L H, Kau, N, Knoers, N V A M, Mackenzie, J, Opitz, J M, Sarda, P, Ross, A, Temple, I K, Toutain, A, Wise, C A, Wright, M & Jackson, A P 2011, ' Mutations in the pre-replication complex cause Meier-Gorlin syndrome ', Nature Genetics, vol. 43, no. 4, pp. 356-359 . https://doi.org/10.1038/ng.775
Nature Genetics, 43, 356-9
Nature Genetics, 43, 4, pp. 356-9

Contains fulltext : 97141.pdf (Publisher’s version ) (Closed access) Meier-Gorlin syndrome (ear, patella and short-stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d49f6905260ccf9cf478b32ff3a75d0
https://doi.org/10.1038/ng.775

Agenesis of the ductus venosus and its correlation to hydrops fetalis

Autor: Thomas Hoppen, Peter Bartmann, H. Plath, Nikolaus Kau, Cornelia Hofstaetter

Publikováno v: Journal of Perinatal Medicine. 28

Absence of the ductus venosus is a rare vascular anomaly. We report a late onset of a hydrops fetalis seen in a fetus at 34 completed weeks of gestation. A persistence of the cranial parts of the left and right umbilical veins and of the paired crani

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::034e763e2083897f8b3e86a407037bf2
https://doi.org/10.1515/jpm.2000.010

Measurements of sodium and potassium in newborns and prematures by ion-selective electrodes and flame photometry: influence of lipid and protein content of blood

Autor: P. Bartmann, S. Kowalewski, Nikolaus Kau, M. Günther, Hubert Fahnenstich

Publikováno v: Acta anaesthesiologica Scandinavica. Supplementum. 107

The alternative use of flame photometry and ion selective electrodes for electrolyte determinations in neonatology led to the question how the two methods agree. 104 routine blood samples were taken as matched pairs for a comparison of sodium and pot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b49ba5b2305644512215241511e24640
https://pubmed.ncbi.nlm.nih.gov/8599260

MACROSOMIC INFANTS IN NORTHERN RHINELAND 1988-1994: Comparison of morbidity between infants of diabetic and nondiabetic mothers

Autor: Nikolaus Kau, Peter Bartmann, Christoph Pickard

Publikováno v: Pediatric Research. 45:899-899

MACROSOMIC INFANTS IN NORTHERN RHINELAND 1988-1994: Comparison of morbidity between infants of diabetic and nondiabetic mothers

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8cdb26ddeec64689539892fc87a95a54
https://doi.org/10.1203/00006450-199906000-00089