Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Lo Neumeyer"'
Autor:
Klaus Mohnike, Stefan Aronson, Lo Neumeyer, Ilkka Sipilä, Martin Ritzén, Dag Veimo, Jørn Müller, Sten A. Ivarsson, Ole Eklöf, Otto Westphal, Jon Bland, Lars Hagenäs, Ilkka Kaitila, Niels Thomas Hertel
Publikováno v:
Acta Paediatrica. 94:1402-1410
Background: Achondroplasia is a skeletal dysplasia with extreme, disproportionate, short stature. Aim: In a 5-y growth hormone (GH) treatment study including 1 y without treatment, we investigated growth and body proportion response in 35 children wi
Autor:
Lars Hagenäs, Ove Enkvist, Jacqueline Schoumans, Nils Östen Nilsson, Jan P. Dumanski, Giedre Grigelioniene, Ingegerd Fransson, Isabel Tapia-Páez, Maria Elfving, Lo Neumeyer, Ole Eklöf, Ian O. Ellis, Paul Tordai, Inger Fosdal, Anne Grethe Myhre, Sten A. Ivarsson, Britt-Marie Anderlid, Magnus Nordenskjöld, Otto Westphal
Publikováno v:
Karolinska Institutet
Dyschondrosteosis (DCO; also called Léri-Weill syndrome) is a skeletal dysplasia characterised by disproportionate short stature because of mesomelic shortening of the limbs. Madelung deformity is a feature of DCO that is distinctive, variable in ex
Autor:
Outi Mäkitie, Nina Jäntti, Stefan Geiberger, Lo Neumeyer, Giedre Grigelioniene, Eva Horemuzova, Eva Bengtsson Moström, Ann Nordgren, Eva Åström, Magnus Nordenskjöld
Publikováno v:
American journal of medical genetics. Part A. (7)
Autosomal dominant brachyolmia (Type 3, OMIM #113500) belongs to a group of skeletal dysplasias caused by mutations in the transient receptor potential cation channel, subfamily V, member 4 (TRPV4) gene, encoding a Ca++-permeable, non-selective catio
Autor:
Otto Westphal, Lo Neumeyer, Lars Hagenäs, Giedre Grigelioniene, Sten A. Ivarsson, Ole Eklöf, Darek Kedra, Jan P. Dumanski
Publikováno v:
Human Genetics. 107:145-149
Dyschondrosteosis (DCO) and hypochondroplasia (HCH) are common skeletal dysplasias characterized by disproportionate short stature. The diagnosis of these conditions might be difficult to establish especially in early childhood. Point mutations and d
Autor:
Niels Hertel, Ole Eklöf, Sten Ivarsson, Stefan Aronson, Otto Westphal, Ilkka Sipilä, Ilkka Kaitila, Jon Bland, Dag Veimo, Jørn Müller, Klaus Mohnike, Lo Neumeyer, Martin Ritzen, Lars Hagenäs
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992). 94(10)
Achondroplasia is a skeletal dysplasia with extreme, disproportionate, short stature.In a 5-y growth hormone (GH) treatment study including 1 y without treatment, we investigated growth and body proportion response in 35 children with achondroplasia.