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Results: 1-25/27
Authors:
Crisponi, L
Deiana, M
Loi, A
Chiappe, F
Uda, M
Amati, P
Bisceglia, L
Zelante, L
Nagaraja, R
Porcu, S
Ristaldi, MS
Marzella, R
Rocchi, M
Nicolino, M
Lienhardt-Roussie, A
Nivelon, A
Verloes, A
Schlessinger, D
Gasparini, P
Bonneau, D
Cao, A
Pilia, G
Citation: L. Crisponi et al., The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome, NAT GENET, 27(2), 2001, pp. 159-166
Authors:
Verloes, A
Gillerot, Y
Van Maldergem, L
Schoos, R
Herens, C
Jamar, M
Dideberg, V
Lesenfants, S
Koulischer, L
Citation: A. Verloes et al., Major decrease in the incidence of trisomy21 at birth in south Belgium: mass impact of triple test?, EUR J HUM G, 9(1), 2001, pp. 1-4
Authors:
Couvert, P
Bienvenu, T
Aquaviva, C
Poirier, K
Moraine, C
Gendrot, C
Verloes, A
Andres, C
Le Fevre, AC
Souville, I
Steffann, J
des Portes, V
Ropers, HH
Yntema, HG
Fryns, JP
Briault, S
Chelly, J
Cherif, B
Citation: P. Couvert et al., MECP2 is highly mutated in X-linked mental retardation, HUM MOL GEN, 10(9), 2001, pp. 941-946
Authors:
De Baere, E
Dixon, MJ
Small, KW
Jabs, EW
Leroy, BP
Devriendt, K
Gillerot, Y
Mortier, G
Meire, F
Van Maldergem, L
Courtens, W
Hjalgrim, H
Huang, S
Liebaers, I
Van Regemorter, N
Touraine, P
Praphanphoj, V
Verloes, A
Udar, N
Yellore, V
Chalukya, M
Yelchits, S
De Paepe, A
Kuttenn, F
Fellous, M
Veitia, R
Messiaen, L
Citation: E. De Baere et al., Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation, HUM MOL GEN, 10(15), 2001, pp. 1591-1600
Authors:
Verloes, A
Lesenfants, S
Citation: A. Verloes et S. Lesenfants, New syndrome: clavicle hypoplasia, facial dysmorphism, severe myopia, single central incisor and peripheral neuropathy, CLIN DYSMOR, 10(1), 2001, pp. 29-31
Authors:
Riegel, M
Baumer, A
Jamar, M
Delbecque, K
Herens, C
Verloes, A
Schinzel, A
Citation: M. Riegel et al., Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes, HUM GENET, 109(3), 2001, pp. 286-294
Authors:
Attia-Sobol, J
Encha-Razavi, F
Hermier, M
Vitrey, D
Verloes, A
Plauchu, H
Citation: J. Attia-sobol et al., New syndrome? Lissencephaly type III, stippled epiphyses and loose, thick skin: A new recessively inherited syndrome, AM J MED G, 99(1), 2001, pp. 14-20
Authors:
Verloes, A
Dresse, MF
Keutgen, H
Asplund, C
Smith, CIE
Citation: A. Verloes et al., Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia, AM J MED G, 101(3), 2001, pp. 209-212
Authors:
Yamamoto, A
Morisawa, Y
Verloes, A
Murakami, N
Hirano, M
Nonaka, I
Nishino, L
Citation: A. Yamamoto et al., Infantile autophagic vacuolar myopathy is distinct from Danon disease, NEUROLOGY, 57(5), 2001, pp. 903-905
Authors:
Gerard-Blanluet, M
Elbez, A
Bazin, A
Danan, C
Verloes, A
Janaud, JC
Citation: M. Gerard-blanluet et al., Mosaic trisomy 15 and hemihypertrophy, ANN GENET, 44(3), 2001, pp. 143-148
Authors:
Verloes, A
Jamar, M
Dideberg, V
Herens, C
Citation: A. Verloes et al., Episphalosomic syndrome: a MCA syndrome ressembling Fanconi anemia, with increased baseline level of chromosome breaks but no hypersensivity to clastogens, ANN GENET, 44(2), 2001, pp. 59-62
Authors:
van Bokhoven, H
Hamel, BCJ
Bamshad, M
Sangiorgi, E
Gurrieri, F
Duijf, PHG
Vanmolkot, KRJ
van Beusekom, E
van Beersum, SEC
Celli, J
Merkx, GFM
Tenconi, R
Fryns, JP
Verloes, A
Newbury-Ecob, RA
Raas-Rotschild, A
Majewski, F
Beemer, FA
Janecke, A
Chitayat, D
Crisponi, G
Kayserili, H
Yates, JRW
Neri, G
Brunner, HG
Citation: H. Van Bokhoven et al., p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation, AM J HU GEN, 69(3), 2001, pp. 481-492
Authors:
Massin, MM
Verloes, A
Citation: Mm. Massin et A. Verloes, Images in cardiology: left-sided inferior vena cava, ACT CARDIOL, 56(1), 2001, pp. 41-42
Authors:
Verloes, A
Lesenfants, S
Citation: A. Verloes et S. Lesenfants, Agenesis of the corpus callosum, camptodactyly and obesity, CLIN DYSMOR, 9(2), 2000, pp. 107-109
Authors:
Nishino, I
Spinazzola, A
Papadimitriou, A
Hammans, S
Steiner, I
Hahn, CD
Connolly, AM
Verloes, A
Guimaraes, J
Maillard, I
Hamano, H
Donati, MA
Semrad, CE
Russell, JA
Andreu, AL
Hadjigeorgiou, GM
Vu, TH
Tadesse, S
Nygaard, TG
Nonaka, I
Hirano, I
Bonilla, E
Rowland, LP
DiMauro, S
Hirano, M
Citation: I. Nishino et al., Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations, ANN NEUROL, 47(6), 2000, pp. 792-800
Authors:
Verloes, A
Muller, C
Philippet, P
Citation: A. Verloes et al., Brief clinical report - New dysostosis showing multilevel absence of vertebral pedicles: Unique developmental anomaly of vertebral arches?, AM J MED G, 95(5), 2000, pp. 473-476
Authors:
Verloes, A
Lesenfants, S
Jamar, M
Dideberg, V
Herens, C
Citation: A. Verloes et al., GOMBO syndrome: Another "pseudorecessive" disorder due to a cryptic translocation, AM J MED G, 95(2), 2000, pp. 185-186
Authors:
Keymolen, K
Van Damme-Lombaerts, R
Verloes, A
Fryns, JP
Citation: K. Keymolen et al., Distal limb deficiencies, oral involvement, and renal defect: Report of a third patient and confirmation of a distinct entity, AM J MED G, 93(1), 2000, pp. 19-21
Authors:
Verloes, A
Lesenfants, S
Barr, M
Grange, DK
Journel, H
Lombet, J
Mortier, G
Roeder, E
Citation: A. Verloes et al., Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia, AM J MED G, 90(5), 2000, pp. 407-422
Authors:
Poncin, J
Abs, R
Velkeniers, B
Bonduelle, M
Abramowicz, M
Legros, JJ
Verloes, A
Meurisse, M
Van Gaal, L
Verellen, C
Koulischer, L
Beckers, A
Citation: J. Poncin et al., Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases, HUM MUTAT, 13(1), 1999, pp. 54-60
Authors:
Massin, M
Verloes, A
Jamblin, P
Citation: M. Massin et al., Cardiac anomalies associated with congenital absence of the portal vein, CARD YOUNG, 9(5), 1999, pp. 522-525
Authors:
Wang, XJ
Tromp, G
Cole, CW
Verloes, A
Sakalihasan, N
Yoon, S
Kuivaniemi, H
Citation: Xj. Wang et al., Analysis of coding sequences for tissue inhibitor of metalloproteinases 1 (TIMP1) and 2 (TIMP2) in patients with aneurysms, MATRIX BIOL, 18(2), 1999, pp. 121-124
Authors:
Massin, MM
Radermecker, MA
Verloes, A
Jacquot, S
Grenade, T
Citation: Mm. Massin et al., Cardiac involvement in Coffin-Lowry syndrome, ACT PAEDIAT, 88(4), 1999, pp. 468-470
Authors:
Verloes, A
Hermanns-Le, T
Lesenfants, S
Lombet, J
Lamotte, PJ
Crevecoeur-Liegeois, C
Duchesne, B
Pierard, GE
Citation: A. Verloes et al., Koraxitrachitic syndrome: A syndromic form of self-healing collodion baby with residual dappled atrophy of the derma, AM J MED G, 86(5), 1999, pp. 454-458
Authors:
del Campo, M
Hall, BD
Aeby, A
Nassogne, MC
Verloes, A
Roche, C
Gonzalez, C
Sanchez, H
Garcia-Alix, A
Cabanas, F
Escudero, RM
Hernandez, R
Quero, J
Citation: M. Del Campo et al., Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance, AM J MED G, 85(5), 1999, pp. 479-485