Bijlsma EK - Search Results

1

PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals.

Kampmeier A, Leitão E, Parenti I, Beygo J, Depienne C, Bramswig NC, Hsieh TC, Afenjar A, Beck-Wödl S, Grasshoff U, Haack TB, Bijlsma EK, Ruivenkamp C, Lausberg E, Elbracht M, Haanpää MK, Koillinen H, Heinrich U, Rost I, Jamra RA, Popp D, Koch-Hogrebe M, Rostasy K, López-González V, Sanchez-Soler MJ, Macedo C, Schmetz A, Steinborn C, Weidensee S, Lesmann H, Marbach F, Caro P, Schaaf CP, Krawitz P, Wieczorek D, Kaiser FJ, Kuechler A. Kampmeier A, et al. Among authors: bijlsma ek. Front Cell Dev Biol. 2023 Jan 16;10:1020609. doi: 10.3389/fcell.2022.1020609. eCollection 2022. Front Cell Dev Biol. 2023. PMID: 36726590 Free PMC article.

2

Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range.

Findlay Black H, Wright GEB, Collins JA, Caron N, Kay C, Xia Q, Arning L, Bijlsma EK, Squitieri F, Nguyen HP, Hayden MR. Findlay Black H, et al. Among authors: bijlsma ek. Genet Med. 2020 Dec;22(12):2108-2113. doi: 10.1038/s41436-020-0917-z. Epub 2020 Aug 3. Genet Med. 2020. PMID: 32741964 Free PMC article.

3

Neurofibromatosis type 2 diagnosed in the absence of vestibular schwannomas. A case report and guidelines for a screening protocol for children at risk.

Janse AJ, Tan WF, Majoie CB, Bijlsma EK. Janse AJ, et al. Among authors: bijlsma ek. Eur J Pediatr. 2001 Jul;160(7):439-43. doi: 10.1007/s004310100762. Eur J Pediatr. 2001. PMID: 11475583

4

From the WWW Dysmorphology Discussion Board.

Bijlsma E, Donnai D. Bijlsma E, et al. Clin Dysmorphol. 1997 Apr;6(2):189-90. Clin Dysmorphol. 1997. PMID: 9134302 No abstract available.

5

Mosaicism in a patient with Down syndrome reveals post-fertilization formation of a Robertsonian translocation and isochromosome.

Bandyopadhyay R, McCaskill C, Knox-Du Bois C, Zhou Y, Berend SA, Bijlsma E, Shaffer LG. Bandyopadhyay R, et al. Am J Med Genet A. 2003 Jan 15;116A(2):159-63. doi: 10.1002/ajmg.a.10113. Am J Med Genet A. 2003. PMID: 12494435

6

Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

Wallgren-Pettersson C, Donner K, Sewry C, Bijlsma E, Lammens M, Bushby K, Giovannucci Uzielli ML, Lapi E, Odent S, Akcoren Z, Topaloğlu H, Pelin K. Wallgren-Pettersson C, et al. Neuromuscul Disord. 2002 Oct;12(7-8):674-9. doi: 10.1016/s0960-8966(02)00065-2. Neuromuscul Disord. 2002. PMID: 12207937

7

Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas.

Mérel P, Hoang-Xuan K, Sanson M, Moreau-Aubry A, Bijlsma EK, Lazaro C, Moisan JP, Resche F, Nishisho I, Estivill X, et al. Mérel P, et al. Among authors: bijlsma ek. Genes Chromosomes Cancer. 1995 Jul;13(3):211-6. doi: 10.1002/gcc.2870130311. Genes Chromosomes Cancer. 1995. PMID: 7669741

8

Allele loss on chromosomes 10 and 17p and epidermal growth factor receptor gene amplification in human malignant astrocytoma related to prognosis.

Leenstra S, Bijlsma EK, Troost D, Oosting J, Westerveld A, Bosch DA, Hulsebos TJ. Leenstra S, et al. Among authors: bijlsma ek. Br J Cancer. 1994 Oct;70(4):684-9. doi: 10.1038/bjc.1994.373. Br J Cancer. 1994. PMID: 7917918 Free PMC article.

9

A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2.

De Klein A, Riegman PH, Bijlsma EK, Heldoorn A, Muijtjens M, den Bakker MA, Avezaat CJ, Zwarthoff EC. De Klein A, et al. Among authors: bijlsma ek. Hum Mol Genet. 1998 Mar;7(3):393-8. doi: 10.1093/hmg/7.3.393. Hum Mol Genet. 1998. PMID: 9466995 Free article.

10

Neurofibromatosis type 2 in an adolescent boy with polyneuropathy and a mutation in the NF2 gene.

Overweg-Plandsoen WC, Brouwer-Mladin R, Merel P, de Vries L, Bijlsma EK. Overweg-Plandsoen WC, et al. Among authors: bijlsma ek. J Neurol. 1996 Oct;243(10):724-6. doi: 10.1007/BF00873979. J Neurol. 1996. PMID: 8923306 No abstract available.

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