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Items: 47

1.

Mortality Risk Associated With Truncating Founder Mutations in Titin.

Jansen M, Baas AF, van Spaendonck-Zwarts KY, Ummels AS, van den Wijngaard A, Jongbloed JDH, van Slegtenhorst MA, Lekanne Deprez RH, Wessels MW, Michels M, Houweling AC, Hoorntje ET, Helderman-van den Enden PJTM, Barge-Schaapveld DQCM, Peter van Tintelen J, van den Berg MP, Wilde AAM, Ploos van Amstel HK, Hennekam EAM, Asselbergs FW, Sijbrands EJG, Dooijes D.

Circ Genom Precis Med. 2019 May;12(5):e002436. doi: 10.1161/CIRCGEN.118.002436.

PMID:
31112426
2.

Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three-generation clinical report.

Ross J, Fennis W, de Leeuw N, Cune M, Willemze A, Rosenberg A, Ploos van Amstel HK, Créton M, van den Boogaard MJ.

Mol Genet Genomic Med. 2019 Jun;7(6):e679. doi: 10.1002/mgg3.679. Epub 2019 Apr 4.

3.

A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing.

Hochstenbach R, van Binsbergen E, Schuring-Blom H, Buijs A, Ploos van Amstel HK.

Eur J Med Genet. 2018 Sep 22. pii: S1769-7212(18)30045-4. doi: 10.1016/j.ejmg.2018.09.010. [Epub ahead of print]

PMID:
30248410
4.

Familial macrothrombocytopenia due to a double mutation in cis in the alpha-actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpura.

Kanhai D, Mulder R, Ploos van Amstel HK, Schutgens R, Lukens M, Tamminga RYJ.

Pediatr Blood Cancer. 2018 Dec;65(12):e27418. doi: 10.1002/pbc.27418. Epub 2018 Aug 19.

PMID:
30124235
5.

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.

Platzer K, Cogné B, Hague J, Marcelis CL, Mitter D, Oberndorff K, Park SM, Ploos van Amstel HK, Simonic I, van der Smagt JJ, Stegmann APA, Stevens SJC, Stumpel CTRM, Vincent M, Lemke JR, Jamra R.

Ann Neurol. 2018 Aug;84(2):200-207. doi: 10.1002/ana.25278. Epub 2018 Aug 31.

PMID:
30014507
6.

Genetic obesity: next-generation sequencing results of 1230 patients with obesity.

Kleinendorst L, Massink MPG, Cooiman MI, Savas M, van der Baan-Slootweg OH, Roelants RJ, Janssen ICM, Meijers-Heijboer HJ, Knoers NVAM, Ploos van Amstel HK, van Rossum EFC, van den Akker ELT, van Haaften G, van der Zwaag B, van Haelst MM.

J Med Genet. 2018 Sep;55(9):578-586. doi: 10.1136/jmedgenet-2018-105315. Epub 2018 Jul 3.

PMID:
29970488
7.

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.

Vermeulen C, Geeven G, de Wit E, Verstegen MJAM, Jansen RPM, van Kranenburg M, de Bruijn E, Pulit SL, Kruisselbrink E, Shahsavari Z, Omrani D, Zeinali F, Najmabadi H, Katsila T, Vrettou C, Patrinos GP, Traeger-Synodinos J, Splinter E, Beekman JM, Kheradmand Kia S, Te Meerman GJ, Ploos van Amstel HK, de Laat W.

Am J Hum Genet. 2017 Sep 7;101(3):326-339. doi: 10.1016/j.ajhg.2017.07.012. Epub 2017 Aug 24.

8.

The association between WNT10A variants and dental development in patients with isolated oligodontia.

Dhamo B, Fennis W, Créton M, Vucic S, Cune M, Ploos van Amstel HK, Wolvius EB, van den Boogaard MJ, Ongkosuwito EM.

Eur J Hum Genet. 2016 Jan;25(1):59-65. doi: 10.1038/ejhg.2016.117. Epub 2016 Sep 21.

9.

Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.

de Lange IM, Verrijn Stuart AA, van der Luijt RB, Ploos van Amstel HK, van Haelst MM.

Am J Med Genet A. 2016 Sep;170(9):2431-5. doi: 10.1002/ajmg.a.37818. Epub 2016 Jun 23.

PMID:
27338644
10.

Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.

Mañú-Pereira Mdel M, Gonzalez-Roca E, van Solinge WW, Llaudet-Planas E, Sevilla J, Montllor L, Mensa-Vilaro A, Ploos van Amstel HK, van Wijk R, Vives-Corrons J.

Am J Hematol. 2015 Dec;90(12):E217-9. doi: 10.1002/ajh.24178. Epub 2015 Nov 17. No abstract available.

11.

The significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiency.

Voorhuis M, Onland-Moret NC, Janse F, Ploos van Amstel HK, Goverde AJ, Lambalk CB, Laven JS, van der Schouw YT, Broekmans FJ, Fauser BC; Dutch Primary Ovarian Insufficiency Consortium.

Hum Reprod. 2014 Jul;29(7):1585-93. doi: 10.1093/humrep/deu095. Epub 2014 May 7.

PMID:
24812319
12.

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

van der Crabben SN, Harakalova M, Brilstra EH, van Berkestijn FM, Hofstede FC, van Vught AJ, Cuppen E, Kloosterman W, Ploos van Amstel HK, van Haaften G, van Haelst MM.

Am J Med Genet A. 2014 Jan;164A(1):29-35. doi: 10.1002/ajmg.a.36184. Epub 2013 Nov 20. Review.

PMID:
24259184
13.

Response to desmopressin in patients with mild hemophilia A caused by the F8 c.1910A>G, p.Asn637Ser mutation.

Mauser-Bunschoten EP, Fransen van de Putte DE, Ploos van Amstel HK, Spoor M, Schutgens RE.

J Thromb Haemost. 2013 Dec;11(12):2179-81. doi: 10.1111/jth.12430. No abstract available.

14.

The association of CGG repeats in the FMR1 gene and timing of natural menopause.

Voorhuis M, Onland-Moret NC, Fauser BC, Ploos van Amstel HK, van der Schouw YT, Broekmans FJ.

Hum Reprod. 2013 Feb;28(2):496-501. doi: 10.1093/humrep/des392. Epub 2012 Nov 15.

PMID:
23154068
15.

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.

J Med Genet. 2012 Aug;49(8):539-43. doi: 10.1136/jmedgenet-2012-100921.

PMID:
22889856
16.

Mutations in WNT10A are present in more than half of isolated hypodontia cases.

van den Boogaard MJ, Créton M, Bronkhorst Y, van der Hout A, Hennekam E, Lindhout D, Cune M, Ploos van Amstel HK.

J Med Genet. 2012 May;49(5):327-31. doi: 10.1136/jmedgenet-2012-100750.

PMID:
22581971
17.

Mutations in GRIP1 cause Fraser syndrome.

Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM.

J Med Genet. 2012 May;49(5):303-6. doi: 10.1136/jmedgenet-2011-100590. Epub 2012 Apr 17.

PMID:
22510445
18.

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.

Eur J Hum Genet. 2012 Jul;20(7):748-53. doi: 10.1038/ejhg.2011.263. Epub 2012 Jan 18.

19.

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex.

Poot M, Eleveld MJ, van 't Slot R, Ploos van Amstel HK, Hochstenbach R.

Eur J Hum Genet. 2010 Jan;18(1):39-46. doi: 10.1038/ejhg.2009.120.

20.

Genotype-phenotype relationship for localization and age distribution of telangiectases in hereditary hemorrhagic telangiectasia.

Letteboer TG, Mager HJ, Snijder RJ, Lindhout D, Ploos van Amstel HK, Zanen P, Westermann KJ.

Am J Med Genet A. 2008 Nov 1;146A(21):2733-9. doi: 10.1002/ajmg.a.32243.

PMID:
18831062
21.

Characterization of the -16C>G sequence variation in the promoters of both HBG1 and HBG2: convergent evolution of the human gamma-globin genes.

de Vooght KM, van Wijk R, Ploos van Amstel HK, van Solinge WW.

Blood Cells Mol Dis. 2007 Jul-Aug;39(1):70-4. Epub 2007 Apr 25.

PMID:
17462922
22.

Microarray-based genome investigation: molecular karyotyping or segmental aneuploidy profiling?

Hochstenbach R, Ploos van Amstel HK, Poot M.

Eur J Hum Genet. 2006 Mar;14(3):262-5. No abstract available.

23.

Rapid detection of genomic imbalances using micro-arrays consisting of pooled BACs covering all human chromosome arms.

Knijnenburg J, van der Burg M, Nilsson P, Ploos van Amstel HK, Tanke H, Szuhai K.

Nucleic Acids Res. 2005 Oct 12;33(18):e159.

24.

Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates.

Spaapen LJ, Bakker JA, Velter C, Loots W, Rubio-Gozalbo ME, Forget PP, Dorland L, De Koning TJ, Poll-The BT, Ploos van Amstel HK, Bekhof J, Blau N, Duran M.

J Inherit Metab Dis. 2001 Jun;24(3):352-8. Erratum in: J Inherit Metab Dis. 2002 Oct;25(6):514.. Rubio-Gonzalbo ME [corrected to Rubio-Gozalbo ME].

PMID:
11486900
25.

Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding.

Roijers JF, de Wit MJ, van der Luijt RB, Ploos van Amstel HK, Höppener JW, Lips CJ.

Eur J Clin Invest. 2000 Jun;30(6):487-92.

PMID:
10849016
26.

A diagnostic protocol for adult-onset glycogen storage disease type II.

Ausems MG, Lochman P, van Diggelen OP, Ploos van Amstel HK, Reuser AJ, Wokke JH.

Neurology. 1999 Mar 10;52(4):851-3.

PMID:
10078739
27.

Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1.

Mustonen A, Ploos van Amstel HK, Berger R, Salo MK, Viinikka L, Simola KO.

Prenat Diagn. 1997 Oct;17(10):964-6.

PMID:
9358577
28.

Very high frequency of the His1069Gln mutation in Polish Wilson disease patients.

Czlonkowska A, Rodo M, Gajda J, Ploos van Amstel HK, Juyn J, Houwen RH.

J Neurol. 1997 Sep;244(9):591-2. No abstract available.

PMID:
9352458
29.

Benign recurrent intrahepatic cholestasis (BRIC): evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64.

Sinke RJ, Carlton VE, Juijn JA, Delhaas T, Bull L, van Berge Henegouwen GP, van Hattum J, Keller KM, Sinaasappel M, Bijleveld CM, Knol IE, Ploos van Amstel HK, Pearson PL, Berger R, Freimer NB, Houwen RH.

Hum Genet. 1997 Sep;100(3-4):382-7.

PMID:
9272159
30.

Somatic mutations of the RET proto-oncogene are not required for tumor development in multiple endocrine neoplasia type 2 (MEN 2) gene carriers.

Landsvater RM, de Wit MJ, Zewald RA, Hofstra RM, Buys CH, Ploos van Amstel HK, Höppener JW, Lips CJ.

Cancer Res. 1996 Nov 1;56(21):4853-5.

31.

Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II.

Ausems MG, Kroos MA, Van der Kraan M, Smeitink JA, Kleijer WJ, Ploos van Amstel HK, Reuser AJ.

Clin Genet. 1996 Jun;49(6):325-8.

PMID:
8884087
32.

Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A.

Landsvater RM, Jansen RP, Hofstra RM, Buys CH, Lips CJ, Ploos van Amstel HK.

Hum Genet. 1996 Jan;97(1):11-4.

PMID:
8557249
33.

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.

Kroos MA, Van der Kraan M, Van Diggelen OP, Kleijer WJ, Reuser AJ, Van den Boogaard MJ, Ausems MG, Ploos van Amstel HK, Poenaru L, Nicolino M, et al.

J Med Genet. 1995 Oct;32(10):836-7. No abstract available.

34.

Genotype-phenotype correlation in adult-onset acid maltase deficiency.

Wokke JH, Ausems MG, van den Boogaard MJ, Ippel EF, van Diggelene O, Kroos MA, Boer M, Jennekens FG, Reuser AJ, Ploos van Amstel HK.

Ann Neurol. 1995 Sep;38(3):450-4.

PMID:
7668832
35.

Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant.

Luyten JA, Wenink PW, Steenbergen-Spanjers GC, Wevers RA, Ploos van Amstel HK, de Jong JG, van den Heuvel LP.

Hum Genet. 1995 Sep;96(3):357-60.

PMID:
7649558
36.

Studies of the interaction between human protein S and human C4b-binding protein using deletion variants of recombinant human protein S.

Chang GT, Maas BH, Ploos van Amstel HK, Reitsma PH, Bertina RM, Bouma BN.

Thromb Haemost. 1994 Apr;71(4):461-7.

PMID:
8052964
37.

Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I.

Reitsma PH, Ploos van Amstel HK, Bertina RM.

J Clin Invest. 1994 Feb;93(2):486-92.

39.
41.

RFLP for the human prothrombin (F2) gene.

de Vetten M, Ploos van Amstel HK, Reitsma PH.

Nucleic Acids Res. 1990 Oct 11;18(19):5917. No abstract available.

42.

Intron-exon organization of the active human protein S gene PS alpha and its pseudogene PS beta: duplication and silencing during primate evolution.

Ploos van Amstel HK, Reitsma PH, van der Logt CP, Bertina RM.

Biochemistry. 1990 Aug 28;29(34):7853-61.

PMID:
2148111
43.

Heerlen polymorphism of protein S, an immunologic polymorphism due to dimorphism of residue 460.

Bertina RM, Ploos van Amstel HK, van Wijngaarden A, Coenen J, Leemhuis MP, Deutz-Terlouw PP, van der Linden IK, Reitsma PH.

Blood. 1990 Aug 1;76(3):538-48.

44.

A mutation in the protein S pseudogene is linked to protein S deficiency in a thrombophilic family.

Ploos van Amstel HK, Reitsma PH, Hamulyák K, de Die-Smulders CE, Mannucci PM, Bertina RM.

Thromb Haemost. 1989 Nov 24;62(3):897-901.

PMID:
2531940
45.

Partial protein S gene deletion in a family with hereditary thrombophilia.

Ploos van Amstel HK, Huisman MV, Reitsma PH, Wouter ten Cate J, Bertina RM.

Blood. 1989 Feb;73(2):479-83.

46.

The human protein S locus: identification of the PS alpha gene as a site of liver protein S messenger RNA synthesis.

Ploos van Amstel HK, Reitsma PH, Bertina RM.

Biochem Biophys Res Commun. 1988 Dec 30;157(3):1033-8.

PMID:
2974696
47.

Human protein S cDNA encodes Phe-16 and Tyr 222 in consensus sequences for the post-translational processing.

Ploos van Amstel HK, van der Zanden AL, Reitsma PH, Bertina RM.

FEBS Lett. 1987 Sep 28;222(1):186-90.

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