Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Arash Ghalamkarpour"'
Autor:
Haiko Pillu, Robert Lins, Bram Volckaert, Muriel Lins, Arash Ghalamkarpour, Katrien Timmermans
Publikováno v:
Airway pharmacology and treatment.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00aeebc484adeb888f4380fc980a5bab
https://doi.org/10.1183/13993003.congress-2020.3242
https://doi.org/10.1183/13993003.congress-2020.3242
Autor:
Antonella Mendola, Arash Ghalamkarpour, Elodie Fastré, Eulalia Baselga, Pascal Brouillard, Anette Bygum, Laurence M. Boon, Christina Fagerberg, Isabelle Quéré, Alexandre Irrthum, Miikka Vikkula, John B. Mulliken, Matthieu J. Schlögel, H.L. Nguyen, C. van der Vleuten
Publikováno v:
Mendola, A, Schlögel, M J, Ghalamkarpour, A, Irrthum, A, Nguyen, H L, Fastré, E, Bygum, A, van der Vleuten, C, Fagerberg, C, Baselga, E, Quere, I, Mulliken, J B, Boon, L M, Brouillard, P, Vikkula, M & Lymphedema Research Group 2013, ' Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema ', Molecular Syndromology, vol. 4, no. 6, pp. 257-66 . https://doi.org/10.1159/000354097
Lymphedema is caused by dysfunction of lymphatic vessels, leading to disabling swelling that occurs mostly on the extremities. Lymphedema can be either primary (congenital) or secondary (acquired). Familial primary lymphedema commonly segregates in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3b9ce9bfc5bfff56ce08eecaf9b2474
https://doi.org/10.1159/000354097
https://doi.org/10.1159/000354097
Autor:
Arash Ghalamkarpour, Pipsa Saharinen, Miikka Vikkula, Kari Alitalo, Wolfgang Holnthoner, Laurence M. Boon, John B. Mulliken
Publikováno v:
Journal of Medical Genetics. 46:399-404
BACKGROUND: Heterozygous mutations in VEGFR3 have been identified in some familial cases with dominantly inherited primary congenital lymphoedema, known as Nonne-Milroy disease. Recessive cases of primary lymphoedema with a genetic cause are not know
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f3cf6d71747c2cd985055227b5afcca
https://doi.org/10.1136/jmg.2008.064469
https://doi.org/10.1136/jmg.2008.064469
Autor:
Arash Ghalamkarpour, Susanne Morlot, Annick Raas-Rothschild, Laurence M. Boon, John B. Mulliken, Miikka Vikkula, Algirdas Utkus
Publikováno v:
Clinical Genetics. 70:330-335
Mutations in the vascular endothelial growth factor receptor 3 gene, VEGFR3/FLT4, have been identified in a subset of families with hereditary lymphedema type I or Milroy disease (MIM 153100). Individuals carrying a VEGFR3 mutation exhibit congenital
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d69dabdc95d40403576433cb26ec830
https://doi.org/10.1111/j.1399-0004.2006.00687.x
https://doi.org/10.1111/j.1399-0004.2006.00687.x
Publikováno v:
Journal of Human Genetics. 51:846-850
Hereditary lymphedema type I (HL-I), also known as Milroy disease, is an autosomal dominant disorder characterized by typical phenotype of infantile onset lower-limb lymphedema accompanied by variable expression of recurrent episodes of cellulites, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cd84184b9d5627247eff8b41c026527
https://doi.org/10.1007/s10038-006-0031-3
https://doi.org/10.1007/s10038-006-0031-3
Autor:
Dina Marek-Yagel, Arash Ghalamkarpour, Haike Reznik-Wolf, Shoshana Greenberger, Elon Pras, Miikka Vikkula
Publikováno v:
British Journal of Dermatology. 163:1358-1360
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e79f1ed69199e34ec691051d7606e8be
https://doi.org/10.1111/j.1365-2133.2010.10012.x
https://doi.org/10.1111/j.1365-2133.2010.10012.x
Autor:
Antonella Mendola, Glen Brice, Ines Martinez-Corral, Bart Loeys, Richard C. Trembath, Martin G. Bialer, Sophie Devery, Stefan Schulte-Merker, Peter S. Mortimer, Andreas van Impel, Alexandros Onoufriadis, Amihood Singer, Miikka Vikkula, Michael A. Simpson, Fiona Connell, Pradeep Vasudevan, Arash Ghalamkarpour, Steve Jeffery, Jules G. Leroy, Anthony T. Moore, Meriel McEntagart, Taija Makinen, Pia Ostergaard, Lut Van Laer, Sahar Mansour, Oliver Quarrell
Publikováno v:
American Journal of Human Genetics, 90, 2, pp. 356-62
American Journal of Human Genetics, 90(2), 356-362. Cell Press
The American journal of human genetics
American Journal of Human Genetics, 90, 356-62
American Journal of Human Genetics, 90(2), 356-362. Cell Press
The American journal of human genetics
American Journal of Human Genetics, 90, 356-62
Item does not contain fulltext We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy. Initial whole-exome sequencing revealed heterozygous KIF11 mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::320769138362a14b9dd1561ea3030929
https://hdl.handle.net/2066/108774
https://hdl.handle.net/2066/108774
Autor:
Yves Gillerot, Arash Ghalamkarpour, Laurence M. Boon, Nicole Revencu, Eric Haan, Nicole Van Regemorter, Dominique Thomas, Christian Debauche, Yves Sznajer, Miikka Vikkula
Publikováno v:
The Journal of pediatrics. 155(1)
OBJECTIVES: To investigate the genetic causes of idiopathic sporadic prenatal generalized edema. STUDY DESIGN: In a series of 12 patients, in whom in utero generalized skin edema or hydrops fetalis had been diagnosed, we screened 3 lymphangiogenic ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f86e4a0843944b9b3b4fb096bf706e7f
https://pubmed.ncbi.nlm.nih.gov/19394045
https://pubmed.ncbi.nlm.nih.gov/19394045
Autor:
E. Weiner, Etty Daniel-Spiegel, Eliezer Shalev, Ronen Spiegel, Stavit A. Shalev, Miikka Vikkula, Arash Ghalamkarpour
Publikováno v:
Prenatal diagnosis. 25(11)
OBJECTIVES: To report a rare case of primary congenital lymphedema (PCL) presenting as hydrops fetalis. METHODS: The patient presented at 33(+4) weeks' gestation with polyhydramnios, massive bilateral hydrothorax, skin edema, scalp edema and minimal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ad8db7175b58ca32f97a490710c6ecb
https://pubmed.ncbi.nlm.nih.gov/16231305
https://pubmed.ncbi.nlm.nih.gov/16231305