de Coo RF - Search Results

1

CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

Mancini GM, Schot R, de Wit MC, de Coo RF, Oostenbrink R, Bindels-de Heus K, Berger LP, Lequin MH, de Vries FA, Wilke M, van Slegtenhorst MA. Mancini GM, et al. Among authors: de coo rf. Neurology. 2016 Mar 1;86(9):877-8. doi: 10.1212/WNL.0000000000002422. Epub 2016 Feb 3. Neurology. 2016. PMID: 26843564 No abstract available.

2

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.

Huijmans JGM, Schot R, de Klerk JBC, Williams M, de Coo RFM, Duran M, Verheijen FW, van Slegtenhorst M, Mancini GMS. Huijmans JGM, et al. Among authors: de coo rfm. Am J Med Genet A. 2017 Jun;173(6):1601-1606. doi: 10.1002/ajmg.a.38240. Am J Med Genet A. 2017. PMID: 28544736

3

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM. Brooks AS, et al. Among authors: de coo rf. Am J Hum Genet. 2005 Jul;77(1):120-6. doi: 10.1086/431244. Epub 2005 May 9. Am J Hum Genet. 2005. PMID: 15883926 Free PMC article.

4

Re: polymicrogyria versus pachygyria in 22q11 microdeletion.

de Wit MC, Lequin MH, de Coo RF, Mancini GM. de Wit MC, et al. Among authors: de coo rf. Am J Med Genet A. 2005 Aug 1;136A(4):419; author reply 420-1. doi: 10.1002/ajmg.a.30741. Am J Med Genet A. 2005. PMID: 16001437 No abstract available.

5

Pitfalls in the diagnosis of multiple sulfatase deficiency.

Mancini GM, van Diggelen OP, Huijmans JG, Stroink H, de Coo RF. Mancini GM, et al. Among authors: de coo rf. Neuropediatrics. 2001 Feb;32(1):38-40. doi: 10.1055/s-2001-12213. Neuropediatrics. 2001. PMID: 11315200

6

Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.

Sistermans EA, de Coo RF, De Wijs IJ, Van Oost BA. Sistermans EA, et al. Among authors: de wijs ij, de coo rf. Neurology. 1998 Jun;50(6):1749-54. doi: 10.1212/wnl.50.6.1749. Neurology. 1998. PMID: 9633722

7

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

Gerards M, de Coo R, Smeets H. Gerards M, et al. Brain. 2014 Sep;137(Pt 9):e296. doi: 10.1093/brain/awu129. Epub 2014 May 30. Brain. 2014. PMID: 24878501 No abstract available.

8

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.

Gerards M, Kamps R, van Oevelen J, Boesten I, Jongen E, de Koning B, Scholte HR, de Angst I, Schoonderwoerd K, Sefiani A, Ratbi I, Coppieters W, Karim L, de Coo R, van den Bosch B, Smeets H. Gerards M, et al. Brain. 2013 Mar;136(Pt 3):882-90. doi: 10.1093/brain/awt013. Epub 2013 Feb 18. Brain. 2013. PMID: 23423671

9

Mitochondrial cytopathy presenting as hereditary sensory neuropathy with progressive external ophthalmoplegia, ataxia and fatal myoclonic epileptic status.

van Domburg PH, Gabreëls-Festen AA, Gabreëls FJ, de Coo R, Ruitenbeek W, Wesseling P, ter Laak H. van Domburg PH, et al. Brain. 1996 Jun;119 ( Pt 3):997-1010. doi: 10.1093/brain/119.3.997. Brain. 1996. PMID: 8673507 Free article.

10

Refinement of the chromosome 16 locus for benign familial infantile convulsions.

Callenbach PM, van den Boogerd EH, de Coo RF, ten Houten R, Oosterwijk JC, Hageman G, Frants RR, Brouwer OF, van den Maagdenberg AM. Callenbach PM, et al. Among authors: de coo rf. Clin Genet. 2005 Jun;67(6):517-25. doi: 10.1111/j.1399-0004.2005.00445.x. Clin Genet. 2005. PMID: 15857419

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