VERELLEN-DUMOULIN - Citas de Google Académico

Citado por

	Total	Desde 2014
Citas	8038	2972
Índice h	45	28
Índice i10	97	55

560

280

140

420

1985198619871988198919901991199219931994199519961997199819992000200120022003200420052006200720082009201020112012201320142015201620172018201920 39 19 31 40 30 27 55 51 65 86 84 68 101 118 134 177 228 230 293 281 285 278 312 304 292 361 426 425 438 450 482 527 544 517

Coautores

nathalie lannoymaster scientificDirección de correo verificada de uclouvain.be
Miikka VikkulaProfessor, de Duve Institute, Université catholique de LouvainDirección de correo verificada de uclouvain.be
Isabelle Maystadtcentre de génétique humaineDirección de correo verificada de ipg.be
nicole revencuCentre de Génétique Humaine, Cliniques universitaires Saint-Luc, Université catholique de LouvainDirección de correo verificada de uclouvain.be
Peter De JongheVIB Department of Molecular Genetics, Neurogenetics Group, University of Antwerp, Institute BornDirección de correo verificada de molgen.vib-ua.be
Vincent TimmermanUniversity of Antwerp, VIBDirección de correo verificada de molgen.vib-ua.be
Karl TryggvasonProfessor, Karolinska Institute, Stockholm & Duke-NUS, SingaporeDirección de correo verificada de tryggvason.com
Jean-Philippe JaisMCU-PH, Biostatistique et Informatique Médicale, Université Paris-DescartesDirección de correo verificada de parisdescartes.fr
Damien LedererClinical Genetics, Centre for Human Genetics, Gosselies, BelgiumDirección de correo verificada de ipg.be
Devuyst OlivierUniversité Catholique de LouvainDirección de correo verificada de student.uclouvain.be
Anthony P MonacoPresident, Tufts UniversityDirección de correo verificada de tufts.edu
Rezsohazy RenéUniversité catholique de Louvain, Institut des Sciences de la VieDirección de correo verificada de uclouvain.be
Etienne SokalUniversité Catholique de Louvain, Institut de Recherche Expérimentale et Clinique (IREC), CliniquesDirección de correo verificada de uclouvain.be
Mustapha NajimiUniversité catholique de LouvainDirección de correo verificada de uclouvain.be
Gertjan van OmmenProfessor in Human Genetics, Leiden University Medical CentreDirección de correo verificada de lumc.nl
Peter PearsonVisiting Professor Human Genetics, Dept Genetics and Evolutionary Biology, University of Sao PauloDirección de correo verificada de ib.usp.br
Martin C WapenaarDirección de correo verificada de umcg.nl

VERELLEN-DUMOULIN

Institut de Pathologie et de génétique

Dirección de correo verificada de ipg.be

genetics Huntington disease congenital malformations cancer


Título	Citado por	Año
X-linked Alport syndrome: natural history in 195 families and genotype-phenotype correlations in males JP Jais, B Knebelmann, I Giatras, M De Marchi, G Rizzoni, A Renieri, ... Journal of the American Society of Nephrology 11 (4), 649-657, 2000	545*	2000
Identification of mutations in the α3 (IV) and α4 (IV) collagen genes in autosomal recessive Alport syndrome T Mochizuki, HH Lemmink, M Mariyama, C Antignac, MC Gubler, Y Pirson, ... Nature genetics 8 (1), 77, 1994	486	1994
Identification of mutations in the α3 (IV) and α4 (IV) collagen genes in autosomal recessive Alport syndrome T Mochizuki, HH Lemmink, M Mariyama, C Antignac, MC Gubler, Y Pirson, ... Nature genetics 8 (1), 77, 1994	486	1994
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome C Windpassinger, M Auer-Grumbach, J Irobi, H Patel, E Petek, G Hörl, ... Nature genetics 36 (3), 271, 2004	344	2004
MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2 K Verhoeven, KG Claeys, S Züchner, JM Schröder, J Weis, C Ceuterick, ... Brain 129 (8), 2093-2102, 2006	334	2006
CNGA3 mutations in hereditary cone photoreceptor disorders B Wissinger, D Gamer, H Jägle, R Giorda, T Marx, S Mayer, S Tippmann, ... The American Journal of Human Genetics 69 (4), 722-737, 2001	268	2001
A conserved sorting-associated protein is mutantin chorea-acanthocytosis L Rampoldi, C Dobson-Stone Nat.Genet 28 (2), 119-120, 2001	252	2001
Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita AI McClatchey, P Van den Bergh, MA Pericak-Vance, W Raskind, ... Cell 68 (4), 769-774, 1992	236	1992
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion JM Lee, EM Ramos, JH Lee, T Gillis, JS Mysore, MR Hayden, SC Warby, ... Neurology 78 (10), 690-695, 2012	234	2012
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome D Lederer, B Grisart, MC Digilio, V Benoit, M Crespin, SC Ghariani, ... The American Journal of Human Genetics 90 (1), 119-124, 2012	233	2012
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot–Marie–Tooth phenotype P De Jonghe, V Timmerman, C Ceuterick, E Nelis, E De Vriendt, ... Brain 122 (2), 281-290, 1999	223	1999
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin K Dahan, O Devuyst, M Smaers, D Vertommen, G Loute, JM Poux, B Viron, ... Journal of the American Society of Nephrology 14 (11), 2883-2893, 2003	198	2003
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy TV Nelis E,Erdem S,Van Den Bergh PY,Belpaire-Dethiou MC,Ceuterick C,Van ... Neurology 59 (12), 1865-1872, 2002	179	2002
Intracranial aneurysms in autosomal dominant polycystic kidney disease D Chauveau, Y Pirson, C Verellen-Dumoulin, A Macnicol, A Gonzalo, ... Kidney international 45 (4), 1140-1146, 1994	169	1994
Long term trends in prevalence of neural tube defects in Europe: population based study B Khoshnood, M Loane, H De Walle, L Arriola, MC Addor, I Barisic, ... Bmj 351, h5949, 2015	151	2015
Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome CH Verellen-Dumoulin, M Freund, R De Meyer, C Laterre, J Frederic, ... Human genetics 67 (1), 115-119, 1984	151	1984
Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome BP Kelley, F Malfait, L Bonafe, D Baldridge, E Homan, S Symoens, ... Journal of Bone and Mineral Research 26 (3), 666-672, 2011	138	2011
A deletion hot spot in the Duchenne muscular dystrophy gene MC Wapenaar, T Kievits, KA Hart, S Abbs, LAJ Blonden, JT Den Dunnen, ... Genomics 2 (2), 101-108, 1988	123	1988
Evidence for a relationship between Ehlers–Danlos type VII C in humans and bovine dermatosparaxis BV Nusgens, C Verellen-Dumoulin, T Hermanns-Lê, A De Paepe, ... Nature genetics 1 (3), 214, 1992	120	1992
Paper 6: EUROCAT member registries: organization and activities R Greenlees, A Neville, MC Addor, E Amar, L Arriola, M Bakker, I Barisic, ... Birth Defects Research Part A: Clinical and Molecular Teratology 91 (S1 …, 2011	116	2011

El sistema no puede realizar la operación en estos momentos. Inténtalo de nuevo más tarde.

Artículos 1–20

Citas por año

Citas duplicadas

Citas combinadas

Añadir coautoresCoautores

Subir PDF

Seguir a este autor

Citado por

Coautores