Pesquisa | Portal de Pesquisa da BVS

1.

Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies.

Bevilacqua, E; Gil, M M; Nicolaides, K H; Ordoñez, E; Cirigliano, V; Dierickx, H; Willems, P J; Jani, J C.

Ultrasound Obstet Gynecol ; 45(1): 61-6, 2015 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-25297464

2.

Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.

Taroni, F; Verderio, E; Dworzak, F; Willems, P J; Cavadini, P; DiDonato, S.

Nat Genet ; 4(3): 314-20, 1993 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-8358442

3.

A duplication in the L1CAM gene associated with X-linked hydrocephalus.

Van Camp, G; Vits, L; Coucke, P; Lyonnet, S; Schrander-Stumpel, C; Darby, J; Holden, J; Munnich, A; Willems, P J.

Nat Genet ; 4(4): 421-5, 1993 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-8401593

4.

A point mutation in the FMR-1 gene associated with fragile X mental retardation.

De Boulle, K; Verkerk, A J; Reyniers, E; Vits, L; Hendrickx, J; Van Roy, B; Van den Bos, F; de Graaff, E; Oostra, B A; Willems, P J.

Nat Genet ; 3(1): 31-5, 1993 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-8490650

5.

Nonsyndromic hearing impairment is associated with a mutation in DFNA5.

Van Laer, L; Huizing, E H; Verstreken, M; van Zuijlen, D; Wauters, J G; Bossuyt, P J; Van de Heyning, P; McGuirt, W T; Smith, R J; Willems, P J; Legan, P K; Richardson, G P; Van Camp, G.

Nat Genet ; 20(2): 194-7, 1998 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-9771715

6.

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.

Verhoeven, K; Van Laer, L; Kirschhofer, K; Legan, P K; Hughes, D C; Schatteman, I; Verstreken, M; Van Hauwe, P; Coucke, P; Chen, A; Smith, R J; Somers, T; Offeciers, F E; Van de Heyning, P; Richardson, G P; Wachtler, F; Kimberling, W J; Willems, P J; Govaerts, P J; Van Camp, G.

Nat Genet ; 19(1): 60-2, 1998 May.

Artigo em Inglês | MEDLINE | ID: mdl-9590290

7.

Genetic factors in non-syndromic congenital heart malformations.

Wessels, M W; Willems, P J.

Clin Genet ; 78(2): 103-23, 2010 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-20497191

8.

Sex-linked deafness.

Petersen, M B; Wang, Q; Willems, P J.

Clin Genet ; 73(1): 14-23, 2008 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-18005182

9.

Dynamic mutations hit double figures.

Willems, P J.

Nat Genet ; 8(3): 213-5, 1994 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-7874160

10.

Arterial anomalies in arterial tortuosity syndrome: a sour-sweet pathology?

Wessels, M; Willems, P J.

Clin Genet ; 82(1): 30-2, 2012 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-22436127

11.

A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.

Brooks, A S; Leegwater, P A; Burzynski, G M; Willems, P J; de Graaf, B; van Langen, I; Heutink, P; Oostra, B A; Hofstra, R M W; Bertoli-Avella, A M.

J Med Genet ; 43(7): e35, 2006 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-16816022

12.

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.

Hoornaert, K P; Dewinter, C; Vereecke, I; Beemer, F A; Courtens, W; Fryer, A; Fryssira, H; Lees, M; Müllner-Eidenböck, A; Rimoin, D L; Siderius, L; Superti-Furga, A; Temple, K; Willems, P J; Zankl, A; Zweier, C; De Paepe, A; Coucke, P; Mortier, G R.

J Med Genet ; 43(5): 406-13, 2006 May.

Artigo em Inglês | MEDLINE | ID: mdl-16155195

13.

The load/capacity ratio affects the sit-to-stand movement strategy.

Savelberg, H H C M; Fastenau, A; Willems, P J B; Meijer, K.

Clin Biomech (Bristol, Avon) ; 22(7): 805-12, 2007 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-17573167

14.

Mutations in FLNB cause boomerang dysplasia.

Bicknell, L S; Morgan, T; Bonafé, L; Wessels, M W; Bialer, M G; Willems, P J; Cohn, D H; Krakow, D; Robertson, S P.

J Med Genet ; 42(7): e43, 2005 Jul.

Artigo em Inglês | MEDLINE | ID: mdl-15994868

15.

Instability of microsatellites in human gliomas.

Dams, E; Van de Kelft, E J; Martin, J J; Verlooy, J; Willems, P J.

Cancer Res ; 55(7): 1547-9, 1995 Apr 01.

Artigo em Inglês | MEDLINE | ID: mdl-7882363

16.

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13.

Coucke, P J; Wessels, M W; Van Acker, P; Gardella, R; Barlati, S; Willems, P J; Colombi, M; De Paepe, A.

J Med Genet ; 40(10): 747-51, 2003 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-14569121

17.

Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease.

Balemans, W; Patel, N; Ebeling, M; Van Hul, E; Wuyts, W; Lacza, C; Dioszegi, M; Dikkers, F G; Hildering, P; Willems, P J; Verheij, J B G M; Lindpaintner, K; Vickery, B; Foernzler, D; Van Hul, W.

J Med Genet ; 39(2): 91-7, 2002 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-11836356

18.

Variable regions of chromosome 11 loss in different pathological tissues of a patient with the multiple endocrine neoplasia type I syndrome.

Beckers, A; Abs, R; Reyniers, E; De Boulle, K; Stevenaert, A; Heller, F R; Klöppel, G; Meurisse, M; Willems, P J.

J Clin Endocrinol Metab ; 79(5): 1498-502, 1994 Nov.

Artigo em Inglês | MEDLINE | ID: mdl-7962349

19.

Aldosterone-secreting adrenal adenoma as part of multiple endocrine neoplasia type 1 (MEN1): loss of heterozygosity for polymorphic chromosome 11 deoxyribonucleic acid markers, including the MEN1 locus.

Beckers, A; Abs, R; Willems, P J; van der Auwera, B; Kovacs, K; Reznik, M; Stevenaert, A.

J Clin Endocrinol Metab ; 75(2): 564-70, 1992 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-1639957

20.

Spectrum of mutations in fucosidosis.

Willems, P J; Seo, H C; Coucke, P; Tonlorenzi, R; O'Brien, J S.

Eur J Hum Genet ; 7(1): 60-7, 1999 Jan.

Artigo em Inglês | MEDLINE | ID: mdl-10094192

Portal de Pesquisa da BVS

Informação e Conhecimento para a Saúde

Configurar filtros

Sua seleção (0)

Formato de exportação:

Exportar: