Pfundt R - Search Results

1

DLG4-related synaptopathy: a new rare brain disorder.

Rodríguez-Palmero A, Boerrigter MM, Gómez-Andrés D, Aldinger KA, Marcos-Alcalde Í, Popp B, Everman DB, Lovgren AK, Arpin S, Bahrambeigi V, Beunders G, Bisgaard AM, Bjerregaard VA, Bruel AL, Challman TD, Cogné B, Coubes C, de Man SA, Denommé-Pichon AS, Dye TJ, Elmslie F, Feuk L, García-Miñaúr S, Gertler T, Giorgio E, Gruchy N, Haack TB, Haldeman-Englert CR, Haukanes BI, Hoyer J, Hurst ACE, Isidor B, Soller MJ, Kushary S, Kvarnung M, Landau YE, Leppig KA, Lindstrand A, Kleinendorst L, MacKenzie A, Mandrile G, Mendelsohn BA, Moghadasi S, Morton JE, Moutton S, Müller AJ, O'Leary M, Pacio-Míguez M, Palomares-Bralo M, Parikh S, Pfundt R, Pode-Shakked B, Rauch A, Repnikova E, Revah-Politi A, Ross MJ, Ruivenkamp CAL, Sarrazin E, Savatt JM, Schlüter A, Schönewolf-Greulich B, Shad Z, Shaw-Smith C, Shieh JT, Shohat M, Spranger S, Thiese H, Mau-Them FT, van Bon B, van de Burgt I, van de Laar IMBH, van Drie E, van Haelst MM, van Ravenswaaij-Arts CM, Verdura E, Vitobello A, Waldmüller S, Whiting S, Zweier C, Prada CE, de Vries BBA, Dobyns WB, Reiter SF, Gómez-Puertas P, Pujol A, Tümer Z. Rodríguez-Palmero A, et al. Among authors: pfundt r. Genet Med. 2021 May;23(5):888-899. doi: 10.1038/s41436-020-01075-9. Epub 2021 Feb 17. Genet Med. 2021. PMID: 33597769 Free article.

2

Diagnostic genome profiling in mental retardation.

de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM, Reijmersdal Sv, Nillesen WM, Huys EH, Leeuw Nd, Smeets D, Sistermans EA, Feuth T, van Ravenswaaij-Arts CM, van Kessel AG, Schoenmakers EF, Brunner HG, Veltman JA. de Vries BB, et al. Among authors: pfundt r. Am J Hum Genet. 2005 Oct;77(4):606-16. doi: 10.1086/491719. Epub 2005 Aug 30. Am J Hum Genet. 2005. PMID: 16175506 Free PMC article.

3

A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.

Ruiter M, Koolen DA, Pfundt R, de Leeuw N, Klinkers HMJ, Sistermans EA, Veltman JA, de Vries BBA. Ruiter M, et al. Among authors: pfundt r. Clin Dysmorphol. 2006 Jul;15(3):133-137. doi: 10.1097/01.mcd.0000220605.94413.bb. Clin Dysmorphol. 2006. PMID: 16760730

4

Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.

Koolen DA, Herbergs J, Veltman JA, Pfundt R, van Bokhoven H, Stroink H, Sistermans EA, Brunner HG, Geurts van Kessel A, de Vries BBA. Koolen DA, et al. Among authors: pfundt r. J Hum Genet. 2006;51(8):721-726. doi: 10.1007/s10038-006-0010-8. Epub 2006 Jul 25. J Hum Genet. 2006. PMID: 16865294

5

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

Koolen DA, Vissers LE, Pfundt R, de Leeuw N, Knight SJ, Regan R, Kooy RF, Reyniers E, Romano C, Fichera M, Schinzel A, Baumer A, Anderlid BM, Schoumans J, Knoers NV, van Kessel AG, Sistermans EA, Veltman JA, Brunner HG, de Vries BB. Koolen DA, et al. Among authors: pfundt r. Nat Genet. 2006 Sep;38(9):999-1001. doi: 10.1038/ng1853. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906164

6

A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development.

Vermeer S, Koolen DA, Visser G, Brackel HJ, van der Burgt I, de Leeuw N, Willemsen MA, Sistermans EA, Pfundt R, de Vries BB. Vermeer S, et al. Among authors: pfundt r. Dev Med Child Neurol. 2007 May;49(5):380-4. doi: 10.1111/j.1469-8749.2007.00380.x. Dev Med Child Neurol. 2007. PMID: 17489814 Free article.

7

Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review.

van Bon BW, Koolen DA, Feenstra I, Neefs I, Pfundt R, Smeets DF, de Vries BB. van Bon BW, et al. Among authors: pfundt r. Clin Dysmorphol. 2007 Oct;16(4):279-82. doi: 10.1097/MCD.0b013e3282630818. Clin Dysmorphol. 2007. PMID: 17786124 Review.

8

Pseudoarthrosis of the clavicle and copper beaten skull associated with chromosome 10p11.21p12.1 microdeletion.

Shahdadpuri R, de Vries B, Pfundt R, de Leeuw N, Reardon W. Shahdadpuri R, et al. Among authors: pfundt r. Am J Med Genet A. 2008 Jan 15;146A(2):233-7. doi: 10.1002/ajmg.a.32088. Am J Med Genet A. 2008. PMID: 18080323

9

Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: clinical report and review.

van Bon BW, Koolen DA, Pfundt R, van der Burgt I, de Leeuw N, de Vries BB. van Bon BW, et al. Among authors: pfundt r. Am J Med Genet A. 2008 May 1;146A(9):1225-9. doi: 10.1002/ajmg.a.32289. Am J Med Genet A. 2008. PMID: 18386802 Review. No abstract available.

10

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.

Swinkels ME, Simons A, Smeets DF, Vissers LE, Veltman JA, Pfundt R, de Vries BB, Faas BH, Schrander-Stumpel CT, McCann E, Sweeney E, May P, Draaisma JM, Knoers NV, van Kessel AG, van Ravenswaaij-Arts CM. Swinkels ME, et al. Among authors: pfundt r. Am J Med Genet A. 2008 Jun 1;146A(11):1430-8. doi: 10.1002/ajmg.a.32310. Am J Med Genet A. 2008. PMID: 18452192

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