Zobrazeno 1 - 10
of 579
pro vyhledávání: '"Anvret M"'
Mutations of von Willebrand Factor Gene in Families with von Willebrand Disease in the Aland Islands
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1993 Sep 01. 90(17), 7937-7940.
Externí odkaz:
https://www.jstor.org/stable/2362939
Autor:
Metaxotou, C., Genuardi, M., Piombo, G., Schneider, F., Smeets, D., Ouweland, A. van den, Pacheco, P., Correia, H., Binkert, F., Gabarrón, J., Gallano, P., Kristoffersson, U., Anvret, M., Howell, R., Stenhouse, S., Kroisel, P.M., Fryns, J.-P., Matthijs, G., Brøndum-Nielsen, K., Vejerslev, L., Koskull, H. van, Giraudon, E., Saura, R., Held, K., Müller-Reible, C.R.
Publikováno v:
European Journal of Human Genetics, 5, 342-350
European Journal of Human Genetics, 5, 6, pp. 342-350
European Journal of Human Genetics, 5, 6, pp. 342-350
Contains fulltext : 24731___.PDF (Publisher’s version ) (Open Access)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::96e259263560449aa8bdfc664e21892f
https://hdl.handle.net/2066/24731
https://hdl.handle.net/2066/24731
Autor:
Sadler, J. E., Ginsburg, D., Abe, T., Anvret, M., Batlle, J., Bernardi, Francesco, Bonthron, D., Bowen, D., Eikenboom, J. C. J., Ewenstein, B., Falk, G., Gralnick, H., Inaba, H., Inbal, A., Lillicrap, D., Mancuso, D., Mazurier, C., Meyer, D., Michiels, J.
Publikováno v:
Thrombosis and Haemostasis. 69:185-191
SummaryNucleotide sequence polymorphisms in the von Willebrand factor (vWF) gene are useful for genetic studies in von Willebrand disease (vWD). This database describes 33 known vWF polymorphisms distributed throughout the vWF gene. DNA sequence info
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dbbbe5f48c9f7e17ff4e74151584a8c
https://doi.org/10.1055/s-0038-1651577
https://doi.org/10.1055/s-0038-1651577
Autor:
Steen-Johnsen J, Martony A, Kiil R, Hansteen Il, Karen Helene Ørstavik, Suzanne B. Cassidy, Anvret M, Tangsrud Se, Niels Tommerup, Karen Brøndum-Nielsen
Publikováno v:
American Journal of Medical Genetics. 44:534-538
We report on a 12-year-old boy and his 7-year-old sister with the Prader-Willi syndrome. They both had severe initial hypotonia with feeding problems and later developed an increasing appetite. Both sibs have almond-shaped eyes, triangular mouth, hyp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53c9b031cfbe0d10fc5379f164a9def8
https://doi.org/10.1002/ajmg.1320440431
https://doi.org/10.1002/ajmg.1320440431
Autor:
Anvret, M, Binkert, F, Brondum-Nielsen, K, Correia, H, Fryns, J-P, Gabarron, J, Gallano, P, Genuardi, M, Giraudon, E, Held, K, Howell, R, von Roskull, H, Kristofersson, U, Kroisel, PM, Matthijs, G, Metaxotou, C, Muller-Reible, CR, van den Ouweland, Ans, Pacheco, P, Piombo, G, Schneider, F, Smeets, D, Stenhouse, S, Vejerslev, L
Publikováno v:
European Journal of Human Genetics, 5, 342-350. Nature Publishing Group
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::79d63e171c441f32f095643458af1f4e
https://pure.eur.nl/en/publications/22f588d7-12bf-4bc7-bcf1-d534cc76a88b
https://pure.eur.nl/en/publications/22f588d7-12bf-4bc7-bcf1-d534cc76a88b
Publikováno v:
Developmental medicine and child neurology. 37(12)
SUMMARY The purpose of this study was to ascertain whether parental age and parental pre-conceptional exposure to various agents differentiated children with Prader-Willi syndrome (PWS) from obese children without PWS. Two groups of patients under 25
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3954bc778e60f5349f7e0a3457ff3d9
https://pubmed.ncbi.nlm.nih.gov/8566468
https://pubmed.ncbi.nlm.nih.gov/8566468
Autor:
Reis A, Dittrich B, Valerie Greger, Buiting K, Lalande M, Gillessen-Kaesbach G, Anvret M, Horsthemke B
Publikováno v:
ResearcherID
Europe PubMed Central
Europe PubMed Central
The D15S9 and D15S63 loci in the Prader-Willi/Angelman syndrome region on chromosome 15 are subject to parent-of-origin-specific DNA methylation. We have found two Prader-Willi syndrome families in which the patients carry a maternal methylation impr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7414dc2a3e9a5f22b2a2fef51b175594
https://pubmed.ncbi.nlm.nih.gov/8178814
https://pubmed.ncbi.nlm.nih.gov/8178814
Publikováno v:
Europe PubMed Central
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ebf02817de8644686e3a0779305f7cbc
https://pubmed.ncbi.nlm.nih.gov/8433608
https://pubmed.ncbi.nlm.nih.gov/8433608
Autor:
Ginsburg, D., Sadler, J. E., Abe, T., Anvret, M., Batlle, J., Bernardi, Francesco, Bonthron, D., Bowen, D., Eikenboom, J. C. J., Ewenstein, B., Falk, G., Gralnick, H., Inaba, H., Inbal, A., Lillicrap, D., Mancuso, D., Mazurier, C., Meyer, D., Michiels, J.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3709::8eab02b076a3241752d5c48eed9fee25
http://hdl.handle.net/11392/1682596
http://hdl.handle.net/11392/1682596
Publikováno v:
Europe PubMed Central
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::7b6b62b3357a97859560a37fa0fa35ac
https://pubmed.ncbi.nlm.nih.gov/1334182
https://pubmed.ncbi.nlm.nih.gov/1334182