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Page 1
A new phenotype of autosomal dominant nemaline myopathy.
Gommans IM, van Engelen BG, ter Laak HJ, Brunner HG, Kremer H, Lammens M, Vogels OJ. Gommans IM, et al. Among authors: kremer h. Neuromuscul Disord. 2002 Jan;12(1):13-8. doi: 10.1016/s0960-8966(01)00231-0. Neuromuscul Disord. 2002. PMID: 11731279
Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
Schuurs-Hoeijmakers JH, Geraghty MT, Kamsteeg EJ, Ben-Salem S, de Bot ST, Nijhof B, van de Vondervoort II, van der Graaf M, Nobau AC, Otte-Höller I, Vermeer S, Smith AC, Humphreys P, Schwartzentruber J; FORGE Canada Consortium; Ali BR, Al-Yahyaee SA, Tariq S, Pramathan T, Bayoumi R, Kremer HP, van de Warrenburg BP, van den Akker WM, Gilissen C, Veltman JA, Janssen IM, Vulto-van Silfhout AT, van der Velde-Visser S, Lefeber DJ, Diekstra A, Erasmus CE, Willemsen MA, Vissers LE, Lammens M, van Bokhoven H, Brunner HG, Wevers RA, Schenck A, Al-Gazali L, de Vries BB, de Brouwer AP. Schuurs-Hoeijmakers JH, et al. Among authors: kremer hp. Am J Hum Genet. 2012 Dec 7;91(6):1073-81. doi: 10.1016/j.ajhg.2012.10.017. Epub 2012 Nov 21. Am J Hum Genet. 2012. PMID: 23176823 Free PMC article.
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H. Kalay E, et al. Among authors: kremer h. J Mol Med (Berl). 2005 Dec;83(12):1025-32. doi: 10.1007/s00109-005-0719-4. Epub 2005 Nov 8. J Mol Med (Berl). 2005. PMID: 16283141
A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty.
Kremer H, Martens JW, van Reen M, Verhoef-Post M, Wit JM, Otten BJ, Drop SL, Delemarre-van de Waal HA, Pombo-Arias M, De Luca F, Potau N, Buckler JM, Jansen M, Parks JS, Latif HA, Moll GW, Epping W, Saggese G, Mariman EC, Themmen AP, Brunner HG. Kremer H, et al. J Clin Endocrinol Metab. 1999 Mar;84(3):1136-40. doi: 10.1210/jcem.84.3.5515. J Clin Endocrinol Metab. 1999. PMID: 10084607
513 results