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1.

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Polla, D L; Bhoj, E J; Verheij, J B G M; Wassink-Ruiter, J S Klein; Reis, A; Deshpande, C; Gregor, A; Hill-Karfe, K; Silfhout, A T Vulto-van; Pfundt, R; Bongers, E M H F; Hakonarson, H; Berland, S; Gradek, G; Banka, S; Chandler, K; Gompertz, L; Huffels, S C; Stumpel, C T R M; Wennekes, R; Stegmann, A P A; Reardon, W; Leenders, E K S M; de Vries, B B A; Li, D; Zackai, E; Ragge, N; Lynch, S A; Cuddapah, S; van Bokhoven, H; Zweier, C; de Brouwer, A P M.

Genet Med ; 23(4): 645-652, 2021 04.

Artículo en Inglés | MEDLINE | ID: mdl-33244165

2.

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Riazuddin, S; Hussain, M; Razzaq, A; Iqbal, Z; Shahzad, M; Polla, D L; Song, Y; van Beusekom, E; Khan, A A; Tomas-Roca, L; Rashid, M; Zahoor, M Y; Wissink-Lindhout, W M; Basra, M A R; Ansar, M; Agha, Z; van Heeswijk, K; Rasheed, F; Van de Vorst, M; Veltman, J A; Gilissen, C; Akram, J; Kleefstra, T; Assir, M Z; Grozeva, D; Carss, K; Raymond, F L; O'Connor, T D; Riazuddin, S A; Khan, S N; Ahmed, Z M; de Brouwer, A P M; van Bokhoven, H; Riazuddin, S.

Mol Psychiatry ; 25(11): 3101-3102, 2020 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-30171209

3.

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

Riazuddin, S; Hussain, M; Razzaq, A; Iqbal, Z; Shahzad, M; Polla, D L; Song, Y; van Beusekom, E; Khan, A A; Tomas-Roca, L; Rashid, M; Zahoor, M Y; Wissink-Lindhout, W M; Basra, M A R; Ansar, M; Agha, Z; van Heeswijk, K; Rasheed, F; Van de Vorst, M; Veltman, J A; Gilissen, C; Akram, J; Kleefstra, T; Assir, M Z; Grozeva, D; Carss, K; Raymond, F L; O'Connor, T D; Riazuddin, S A; Khan, S N; Ahmed, Z M; de Brouwer, A P M; van Bokhoven, H; Riazuddin, S.

Mol Psychiatry ; 22(11): 1604-1614, 2017 11.

Artículo en Inglés | MEDLINE | ID: mdl-27457812

4.

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

Hu, H; Haas, S A; Chelly, J; Van Esch, H; Raynaud, M; de Brouwer, A P M; Weinert, S; Froyen, G; Frints, S G M; Laumonnier, F; Zemojtel, T; Love, M I; Richard, H; Emde, A-K; Bienek, M; Jensen, C; Hambrock, M; Fischer, U; Langnick, C; Feldkamp, M; Wissink-Lindhout, W; Lebrun, N; Castelnau, L; Rucci, J; Montjean, R; Dorseuil, O; Billuart, P; Stuhlmann, T; Shaw, M; Corbett, M A; Gardner, A; Willis-Owen, S; Tan, C; Friend, K L; Belet, S; van Roozendaal, K E P; Jimenez-Pocquet, M; Moizard, M-P; Ronce, N; Sun, R; O'Keeffe, S; Chenna, R; van Bömmel, A; Göke, J; Hackett, A; Field, M; Christie, L; Boyle, J; Haan, E; Nelson, J.

Mol Psychiatry ; 21(1): 133-48, 2016 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-25644381

5.

Response to Riccardi et al.

de Brouwer, A P M.

Genet Med ; 23(10): 2005, 2021 10.

Artículo en Inglés | MEDLINE | ID: mdl-34079075

6.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Møller, R S; Jensen, L R; Maas, S M; Filmus, J; Capurro, M; Hansen, C; Marcelis, C L M; Ravn, K; Andrieux, J; Mathieu, M; Kirchhoff, M; Rødningen, O K; de Leeuw, N; Yntema, H G; Froyen, G; Vandewalle, J; Ballon, K; Klopocki, E; Joss, S; Tolmie, J; Knegt, A C; Lund, A M; Hjalgrim, H; Kuss, A W; Tommerup, N; Ullmann, R; de Brouwer, A P M; Strømme, P; Kjaergaard, S; Tümer, Z; Kleefstra, T.

Hum Genet ; 133(5): 625-38, 2014 May.

Artículo en Inglés | MEDLINE | ID: mdl-24326587

7.

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.

Lugtenberg, D; de Brouwer, A P M; Kleefstra, T; Oudakker, A R; Frints, S G M; Schrander-Stumpel, C T R M; Fryns, J P; Jensen, L R; Chelly, J; Moraine, C; Turner, G; Veltman, J A; Hamel, B C J; de Vries, B B A; van Bokhoven, H; Yntema, H G.

J Med Genet ; 43(4): 362-70, 2006 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-16169931

8.

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

van Bon, B W M; Hoischen, A; Hehir-Kwa, J; de Brouwer, A P M; Ruivenkamp, C; Gijsbers, A C J; Marcelis, C L; de Leeuw, N; Veltman, J A; Brunner, H G; de Vries, B B A.

Clin Genet ; 79(3): 296-9, 2011 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-21294719

9.

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.

Kalay, E; de Brouwer, A P M; Caylan, R; Nabuurs, S B; Wollnik, B; Karaguzel, A; Heister, J G A M; Erdol, H; Cremers, F P M; Cremers, C W R J; Brunner, H G; Kremer, H.

J Mol Med (Berl) ; 83(12): 1025-32, 2005 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-16283141

10.

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

Kleefstra, T; Smidt, M; Banning, M J G; Oudakker, A R; Van Esch, H; de Brouwer, A P M; Nillesen, W; Sistermans, E A; Hamel, B C J; de Bruijn, D; Fryns, J-P; Yntema, H G; Brunner, H G; de Vries, B B A; van Bokhoven, H.

J Med Genet ; 42(4): 299-306, 2005 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-15805155

11.

Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.

Kalay, E; Karaguzel, A; Caylan, R; Heister, A; Cremers, F P M; Cremers, C W R J; Brunner, H G; de Brouwer, A P M; Kremer, H.

Hum Mutat ; 26(6): 591, 2005 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-16287143

12.

Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb.

Schuurs-Hoeijmakers, J H M; Vermeer, S; van Bon, B W M; Pfundt, R; Marcelis, C; de Brouwer, A P M; de Leeuw, N; de Vries, Bert B A.

J Med Genet ; 46(6): 421-3, 2009 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-19487540

13.

Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.

Poirier, K; Lacombe, D; Gilbert-Dussardier, B; Raynaud, M; Desportes, V; de Brouwer, A P M; Moraine, C; Fryns, J P; Ropers, H H; Beldjord, C; Chelly, J; Bienvenu, T.

Neurogenetics ; 7(1): 39-46, 2006 Mar.

Artículo en Inglés | MEDLINE | ID: mdl-16235064

14.

Clofibrate-induced relocation of phosphatidylcholine transfer protein to mitochondria in endothelial cells.

de Brouwer, A P M; Westerman, J; Kleinnijenhuis, A; Bevers, L E; Roelofsen, B; Wirtz, K W A.

Exp Cell Res ; 274(1): 100-11, 2002 Mar 10.

Artículo en Inglés | MEDLINE | ID: mdl-11855861

15.

Determination of the stability of the noncovalent phospholipid transfer protein-lipid complex by electrospray time-of-flight mass spectrometry.

de Brouwer, A P M; Versluis, C; Westerman, J; Roelofsen, B; Heck, A J R; Wirtz, K W A.

Biochemistry ; 41(25): 8013-8, 2002 Jun 25.

Artículo en Inglés | MEDLINE | ID: mdl-12069592

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