Pfundt R - Search Results

1

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez Garcia … See abstract for full author list ➔ Li D, et al. Among authors: pfundt r. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.

2

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

3

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.

4

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.

5

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

6

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.

7

Clinical and molecular characterization of two patients with a 6.75 Mb overlapping deletion in 8p12p21 with two candidate loci for congenital heart defects.

Willemsen MH, de Leeuw N, Pfundt R, de Vries BB, Kleefstra T. Willemsen MH, et al. Among authors: pfundt r. Eur J Med Genet. 2009 Mar-Jun;52(2-3):134-9. doi: 10.1016/j.ejmg.2009.03.003. Epub 2009 Mar 19. Eur J Med Genet. 2009. PMID: 19303465

8

Accurate distinction of pathogenic from benign CNVs in mental retardation.

Hehir-Kwa JY, Wieskamp N, Webber C, Pfundt R, Brunner HG, Gilissen C, de Vries BB, Ponting CP, Veltman JA. Hehir-Kwa JY, et al. Among authors: pfundt r. PLoS Comput Biol. 2010 Apr 22;6(4):e1000752. doi: 10.1371/journal.pcbi.1000752. PLoS Comput Biol. 2010. PMID: 20421931 Free PMC article.

9

De novo copy number variants associated with intellectual disability have a paternal origin and age bias.

Hehir-Kwa JY, Rodríguez-Santiago B, Vissers LE, de Leeuw N, Pfundt R, Buitelaar JK, Pérez-Jurado LA, Veltman JA. Hehir-Kwa JY, et al. Among authors: pfundt r. J Med Genet. 2011 Nov;48(11):776-8. doi: 10.1136/jmedgenet-2011-100147. Epub 2011 Oct 3. J Med Genet. 2011. PMID: 21969336

10

Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomalies.

Willemsen MH, de Leeuw N, de Brouwer AP, Pfundt R, Hehir-Kwa JY, Yntema HG, Nillesen WM, de Vries BB, van Bokhoven H, Kleefstra T. Willemsen MH, et al. Among authors: pfundt r. Eur J Med Genet. 2012 Nov;55(11):586-98. doi: 10.1016/j.ejmg.2012.05.001. Epub 2012 Jul 14. Eur J Med Genet. 2012. PMID: 22796527

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