Terhal PA - Search Results

1

Breast hypoplasia and disproportionate short stature in the ear, patella, short stature syndrome: expansion of the phenotype?

Terhal PA, Ausems MG, Van Bever Y, Kate LP, Dijkstra PF, Kuijpers GM. Terhal PA, et al. J Med Genet. 2000 Sep;37(9):719-21. doi: 10.1136/jmg.37.9.719. J Med Genet. 2000. PMID: 11182936 Free PMC article. No abstract available.

2

Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.

de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, 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, Sluiter AE, 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. Am J Med Genet A. 2012 Nov;158A(11):2733-42. doi: 10.1002/ajmg.a.35681. Epub 2012 Sep 28. Am J Med Genet A. 2012. PMID: 23023959

3

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.

4

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.

van Woerden GM, Senden R, de Konink C, Trezza RA, Baban A, Bassetti JA, van Bever Y, Bird LM, van Bon BW, Brooks AS, Guan Q, Klee EW, Marcelis C, Rosado JM, Schimmenti LA, Shikany AR, Terhal PA, Nicole Weaver K, Wessels MW, van Wieringen H, Hurst AC, Gooch CF, Steindl K, Joset P, Rauch A, Tartaglia M, Niceta M, Elgersma Y, Demirdas S. van Woerden GM, et al. Among authors: terhal pa. Hum Mutat. 2022 Oct;43(10):1377-1395. doi: 10.1002/humu.24425. Epub 2022 Jul 29. Hum Mutat. 2022. PMID: 35730652 Free PMC article.

5

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK. Harakalova M, et al. Among authors: terhal pa. J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921. J Med Genet. 2012. PMID: 22889856

6

Further delineation of the GDF6 related multiple synostoses syndrome.

Terhal PA, Verbeek NE, Knoers N, Nievelstein RJAJ, van den Ouweland A, Sakkers RJ, Speleman L, van Haaften G. Terhal PA, et al. Am J Med Genet A. 2018 Jan;176(1):225-229. doi: 10.1002/ajmg.a.38503. Epub 2017 Nov 12. Am J Med Genet A. 2018. PMID: 29130651

7

Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype.

Bliek J, Terhal P, van den Bogaard MJ, Maas S, Hamel B, Salieb-Beugelaar G, Simon M, Letteboer T, van der Smagt J, Kroes H, Mannens M. Bliek J, et al. Am J Hum Genet. 2006 Apr;78(4):604-14. doi: 10.1086/502981. Epub 2006 Mar 1. Am J Hum Genet. 2006. PMID: 16532391 Free PMC article.

8

A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation.

Terhal P, Rösler B, Kohlhase J. Terhal P, et al. Am J Med Genet A. 2006 Feb 1;140(3):222-6. doi: 10.1002/ajmg.a.31060. Am J Med Genet A. 2006. PMID: 16411190

9

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.

Ballhausen D, Bonafé L, Terhal P, Unger SL, Bellus G, Classen M, Hamel BC, Spranger J, Zabel B, Cohn DH, Cole WG, Hecht JT, Superti-Furga A. Ballhausen D, et al. J Med Genet. 2003 Jan;40(1):65-71. doi: 10.1136/jmg.40.1.65. J Med Genet. 2003. PMID: 12525546 Free PMC article. No abstract available.

10

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gérard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivié H, Park SM, Rauch A, Revencu N, Rivière JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L. Lehalle D, et al. J Med Genet. 2017 Jul;54(7):479-488. doi: 10.1136/jmedgenet-2016-104468. Epub 2017 Jan 24. J Med Genet. 2017. PMID: 28119487

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