de Brouwer APM - Search Results

1

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM. Maia N, et al. Among authors: de brouwer apm. Am J Med Genet A. 2023 Jan;191(1):135-143. doi: 10.1002/ajmg.a.63004. Epub 2022 Oct 22. Am J Med Genet A. 2023. PMID: 36271811 Free PMC article.

2

UBE2A deficiency syndrome: Mild to severe intellectual disability accompanied by seizures, absent speech, urogenital, and skin anomalies in male patients.

de Leeuw N, Bulk S, Green A, Jaeckle-Santos L, Baker LA, Zinn AR, Kleefstra T, van der Smagt JJ, Vianne Morgante AM, de Vries BB, van Bokhoven H, de Brouwer AP. de Leeuw N, et al. Am J Med Genet A. 2010 Dec;152A(12):3084-90. doi: 10.1002/ajmg.a.33743. Am J Med Genet A. 2010. PMID: 21108393

3

Intellectual disability genomics: current state, pitfalls and future challenges.

Maia N, Nabais Sá MJ, Melo-Pires M, de Brouwer APM, Jorge P. Maia N, et al. Among authors: de brouwer apm. BMC Genomics. 2021 Dec 20;22(1):909. doi: 10.1186/s12864-021-08227-4. BMC Genomics. 2021. PMID: 34930158 Free PMC article. Review.

4

Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome.

Maia N, Nabais Sá MJ, Tkachenko N, Soares G, Marques I, Rodrigues B, Fortuna AM, Santos R, de Brouwer APM, Jorge P. Maia N, et al. Among authors: de brouwer apm. Mol Syndromol. 2017 Dec;9(1):45-51. doi: 10.1159/000479177. Epub 2017 Aug 29. Mol Syndromol. 2017. PMID: 29456483 Free PMC article.

5

Two Compound Heterozygous Variants in SNX14 Cause Stereotypies and Dystonia in Autosomal Recessive Spinocerebellar Ataxia 20.

Maia N, Soares G, Silva C, Marques I, Rodrigues B, Santos R, Melo-Pires M, de Brouwer AP, Temudo T, Jorge P. Maia N, et al. Front Genet. 2020 Sep 24;11:1038. doi: 10.3389/fgene.2020.01038. eCollection 2020. Front Genet. 2020. PMID: 33193593 Free PMC article.

6

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability.

Willemsen MH, Vallès A, Kirkels LA, Mastebroek M, Olde Loohuis N, Kos A, Wissink-Lindhout WM, de Brouwer AP, Nillesen WM, Pfundt R, Holder-Espinasse M, Vallée L, Andrieux J, Coppens-Hofman MC, Rensen H, Hamel BC, van Bokhoven H, Aschrafi A, Kleefstra T. Willemsen MH, et al. J Med Genet. 2011 Dec;48(12):810-8. doi: 10.1136/jmedgenet-2011-100294. Epub 2011 Oct 15. J Med Genet. 2011. PMID: 22003227

7

Mutations in MED12 cause X-linked Ohdo syndrome.

Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP. Vulto-van Silfhout AT, et al. Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7. Am J Hum Genet. 2013. PMID: 23395478 Free PMC article.

8

Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function.

Willemsen MH, Ba W, Wissink-Lindhout WM, de Brouwer AP, Haas SA, Bienek M, Hu H, Vissers LE, van Bokhoven H, Kalscheuer V, Nadif Kasri N, Kleefstra T. Willemsen MH, et al. J Med Genet. 2014 Jul;51(7):487-94. doi: 10.1136/jmedgenet-2013-102182. Epub 2014 May 8. J Med Genet. 2014. PMID: 24812067

9

Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB.

Maia N, Soares AR, Fortuna AM, Marques I, Gonçalves A, Santos R, Melo Pires M, de Brouwer APM, Jorge P. Maia N, et al. Among authors: de brouwer apm. Clin Case Rep. 2020 Jul 30;8(12):2476-2482. doi: 10.1002/ccr3.3146. eCollection 2020 Dec. Clin Case Rep. 2020. PMID: 33363762 Free PMC article.

10

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax.

Lugtenberg D, de Brouwer AP, Oudakker AR, Pfundt R, Hamel BC, van Bokhoven H, Bongers EM. Lugtenberg D, et al. Am J Med Genet A. 2009 Feb 15;149A(4):760-6. doi: 10.1002/ajmg.a.32742. Am J Med Genet A. 2009. PMID: 19291773

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