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Page 1
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.
Botzenhart EM, Bartalini G, Blair E, Brady AF, Elmslie F, Chong KL, Christy K, Torres-Martinez W, Danesino C, Deardorff MA, Fryns JP, Marlin S, Garcia-Minaur S, Hellenbroich Y, Hay BN, Penttinen M, Shashi V, Terhal P, Van Maldergem L, Whiteford ML, Zackai E, Kohlhase J. Botzenhart EM, et al. Hum Mutat. 2007 Feb;28(2):204-5. doi: 10.1002/humu.9476. Hum Mutat. 2007. PMID: 17221874
Discovery of variants unmasked by hemizygous deletions.
Hochstenbach R, Poot M, Nijman IJ, Renkens I, Duran KJ, Van't Slot R, van Binsbergen E, van der Zwaag B, Vogel MJ, Terhal PA, Ploos van Amstel HK, Kloosterman WP, Cuppen E. Hochstenbach R, et al. Among authors: terhal pa. Eur J Hum Genet. 2012 Jul;20(7):748-53. doi: 10.1038/ejhg.2011.263. Epub 2012 Jan 18. Eur J Hum Genet. 2012. PMID: 22258528 Free PMC article.
Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.
de Munnik SA, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Clayton-Smith J, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Schoots J, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM. de Munnik SA, et al. Among authors: terhal pa. Eur J Hum Genet. 2012 Jun;20(6):598-606. doi: 10.1038/ejhg.2011.269. Epub 2012 Feb 15. Eur J Hum Genet. 2012. PMID: 22333897 Free PMC article.
Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.
Zankl A, Duncan EL, Leo PJ, Clark GR, Glazov EA, Addor MC, Herlin T, Kim CA, Leheup BP, McGill J, McTaggart S, Mittas S, Mitchell AL, Mortier GR, Robertson SP, Schroeder M, Terhal P, Brown MA. Zankl A, et al. Am J Hum Genet. 2012 Mar 9;90(3):494-501. doi: 10.1016/j.ajhg.2012.01.003. Epub 2012 Mar 1. Am J Hum Genet. 2012. PMID: 22387013 Free PMC article.
Dominant missense mutations in ABCC9 cause Cantú syndrome.
Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, Amor DJ, Wilson LC, Kirk EP, Turner CL, Shears D, Garcia-Minaur S, Lees MM, Ross A, Venselaar H, Vriend G, Takanari H, Rook MB, van der Heyden MA, Asselbergs FW, Breur HM, Swinkels ME, Scurr IJ, Smithson SF, Knoers NV, van der Smagt JJ, Nijman IJ, Kloosterman WP, van Haelst MM, van Haaften G, Cuppen E. Harakalova M, et al. Among authors: terhal pa. Nat Genet. 2012 May 18;44(7):793-6. doi: 10.1038/ng.2324. Nat Genet. 2012. PMID: 22610116
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development.
Cappello S, Gray MJ, Badouel C, Lange S, Einsiedler M, Srour M, Chitayat D, Hamdan FF, Jenkins ZA, Morgan T, Preitner N, Uster T, Thomas J, Shannon P, Morrison V, Di Donato N, Van Maldergem L, Neuhann T, Newbury-Ecob R, Swinkells M, Terhal P, Wilson LC, Zwijnenburg PJ, Sutherland-Smith AJ, Black MA, Markie D, Michaud JL, Simpson MA, Mansour S, McNeill H, Götz M, Robertson SP. Cappello S, et al. Nat Genet. 2013 Nov;45(11):1300-8. doi: 10.1038/ng.2765. Epub 2013 Sep 22. Nat Genet. 2013. PMID: 24056717
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.
Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, Le Merrer M, Zankl A, Simon ME, Smithson SF, Marcelis C, Kerr B, Clayton-Smith J, Kinning E, Mansour S, Elmslie F, Goodwin L, van der Hout AH, Veenstra-Knol HE, Herkert JC, Lund AM, Hennekam RC, Mégarbané A, Lees MM, Wilson LC, Male A, Hurst J, Alanay Y, Annerén G, Betz RC, Bongers EM, Cormier-Daire V, Dieux A, David A, Elting MW, van den Ende J, Green A, van Hagen JM, Hertel NT, Holder-Espinasse M, den Hollander N, Homfray T, Hove HD, Price S, Raas-Rothschild A, Rohrbach M, Schroeter B, Suri M, Thompson EM, Tobias ES, Toutain A, Vreeburg M, Wakeling E, Knoers NV, Coucke P, Mortier GR. Terhal PA, et al. Am J Med Genet A. 2015 Mar;167A(3):461-75. doi: 10.1002/ajmg.a.36922. Epub 2015 Jan 21. Am J Med Genet A. 2015. PMID: 25604898
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Menke LA; DDD study; Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC. Menke LA, et al. Among authors: terhal pa. Am J Med Genet A. 2018 Apr;176(4):862-876. doi: 10.1002/ajmg.a.38626. Epub 2018 Feb 20. Am J Med Genet A. 2018. PMID: 29460469
De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms.
Jansen S, van der Werf IM, Innes AM, Afenjar A, Agrawal PB, Anderson IJ, Atwal PS, van Binsbergen E, van den Boogaard MJ, Castiglia L, Coban-Akdemir ZH, van Dijck A, Doummar D, van Eerde AM, van Essen AJ, van Gassen KL, Guillen Sacoto MJ, van Haelst MM, Iossifov I, Jackson JL, Judd E, Kaiwar C, Keren B, Klee EW, Klein Wassink-Ruiter JS, Meuwissen ME, Monaghan KG, de Munnik SA, Nava C, Ockeloen CW, Pettinato R, Racher H, Rinne T, Romano C, Sanders VR, Schnur RE, Smeets EJ, Stegmann APA, Stray-Pedersen A, Sweetser DA, Terhal PA, Tveten K, VanNoy GE, de Vries PF, Waxler JL, Willing M, Pfundt R, Veltman JA, Kooy RF, Vissers LELM, de Vries BBA. Jansen S, et al. Among authors: terhal pa. Eur J Hum Genet. 2019 May;27(5):738-746. doi: 10.1038/s41431-018-0292-2. Epub 2019 Jan 24. Eur J Hum Genet. 2019. PMID: 30679813 Free PMC article.
69 results