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Items: 1 to 50 of 51

1.

Insight Into Molecular Determinants of T3 vs T4 Recognition From Mutations in Thyroid Hormone Receptor α and β.

Wejaphikul K, Groeneweg S, Hilhorst-Hofstee Y, Chatterjee VK, Peeters RP, Meima ME, Visser WE.

J Clin Endocrinol Metab. 2019 Aug 1;104(8):3491-3500. doi: 10.1210/jc.2018-02794.

2.

Correction: Putting genome-wide sequencing in neonates into perspective.

van der Sluijs PJ, Aten E, Barge-Schaapveld DQCM, Bijlsma EK, Bökenkamp-Gramann R, Kaat LD, van Doorn R, van de Putte DF, van Haeringen A, Ten Harkel ADJ, Hilhorst-Hofstee Y, Hoffer MJV, den Hollander NS, van Ierland Y, Koopmans M, Kriek M, Moghadasi S, Nibbeling EAR, Peeters-Scholte CMPCD, Potjer TP, van Rij M, Ruivenkamp CAL, Rutten JW, Steggerda SJ, Suerink M, Tan RNGB, van der Tuin K, Visser R, van der Werf-'t Lam AS, Williams M, Witlox R, Santen GWE.

Genet Med. 2018 Nov 21. doi: 10.1038/s41436-018-0363-3. [Epub ahead of print]

PMID:
30464259
3.

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.

Theunissen TEJ, Nguyen M, Kamps R, Hendrickx AT, Sallevelt SCEH, Gottschalk RWH, Calis CM, Stassen APM, de Koning B, Mulder-Den Hartog ENM, Schoonderwoerd K, Fuchs SA, Hilhorst-Hofstee Y, de Visser M, Vanoevelen J, Szklarczyk R, Gerards M, de Coo IFM, Hellebrekers DMEI, Smeets HJM.

Front Genet. 2018 Oct 12;9:400. doi: 10.3389/fgene.2018.00400. eCollection 2018.

4.

A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome.

Ilie A, Gao AYL, Boucher A, Park J, Berghuis AM, Hoffer MJV, Hilhorst-Hofstee Y, McKinney RA, Orlowski J.

Neurobiol Dis. 2019 Jan;121:187-204. doi: 10.1016/j.nbd.2018.10.002. Epub 2018 Oct 5.

PMID:
30296617
5.

Putting genome-wide sequencing in neonates into perspective.

van der Sluijs PJ, Aten E, Barge-Schaapveld DQCM, Bijlsma EK, Bökenkamp-Gramann R, Donker Kaat L, van Doorn R, van de Putte DF, van Haeringen A, Ten Harkel ADJ, Hilhorst-Hofstee Y, Hoffer MJV, den Hollander NS, van Ierland Y, Koopmans M, Kriek M, Moghadasi S, Nibbeling EAR, Peeters-Scholte CMPCD, Potjer TP, van Rij M, Ruivenkamp CAL, Rutten JW, Steggerda SJ, Suerink M, Tan RNGB, van der Tuin K, Visser R, van der Werf-'t Lam AS, Williams M, Witlox R, Santen GWE.

Genet Med. 2019 May;21(5):1074-1082. doi: 10.1038/s41436-018-0293-0. Epub 2018 Oct 5. Erratum in: Genet Med. 2018 Nov 21;:.

PMID:
30287924
6.

Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.

Overwater E, Marsili L, Baars MJH, Baas AF, van de Beek I, Dulfer E, van Hagen JM, Hilhorst-Hofstee Y, Kempers M, Krapels IP, Menke LA, Verhagen JMA, Yeung KK, Zwijnenburg PJG, Groenink M, van Rijn P, Weiss MM, Voorhoeve E, van Tintelen JP, Houweling AC, Maugeri A.

Hum Mutat. 2018 Sep;39(9):1173-1192. doi: 10.1002/humu.23565. Epub 2018 Jul 12.

7.

Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.

Verhagen JMA, Kempers M, Cozijnsen L, Bouma BJ, Duijnhouwer AL, Post JG, Hilhorst-Hofstee Y, Bekkers SCAM, Kerstjens-Frederikse WS, van Brakel TJ, Lambermon E, Wessels MW, Loeys BL, Roos-Hesselink JW, van de Laar IMBH; National Working Group on BAV & TAA.

Int J Cardiol. 2018 May 1;258:243-248. doi: 10.1016/j.ijcard.2018.01.145. Epub 2018 Feb 7. Review.

8.

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.

Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B.

Hum Mutat. 2018 May;39(5):621-634. doi: 10.1002/humu.23407. Epub 2018 Mar 6.

9.

NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.

Overwater E, Floor K, van Beek D, de Boer K, van Dijk T, Hilhorst-Hofstee Y, Hoogeboom AJM, van Kaam KJ, van de Kamp JM, Kempers M, Krapels IPC, Kroes HY, Loeys B, Salemink S, Stumpel CTRM, Verhoeven VJM, Wijnands-van den Berg E, Cobben JM, van Tintelen JP, Weiss MM, Houweling AC, Maugeri A.

Eur J Med Genet. 2017 Sep;60(9):465-473. doi: 10.1016/j.ejmg.2017.06.005. Epub 2017 Jun 19.

PMID:
28642162
10.

Phenotypes and genotypes in individuals with SMC1A variants.

Huisman S, Mulder PA, Redeker E, Bader I, Bisgaard AM, Brooks A, Cereda A, Cinca C, Clark D, Cormier-Daire V, Deardorff MA, Diderich K, Elting M, van Essen A, FitzPatrick D, Gervasini C, Gillessen-Kaesbach G, Girisha KM, Hilhorst-Hofstee Y, Hopman S, Horn D, Isrie M, Jansen S, Jespersgaard C, Kaiser FJ, Kaur M, Kleefstra T, Krantz ID, Lakeman P, Landlust A, Lessel D, Michot C, Moss J, Noon SE, Oliver C, Parenti I, Pie J, Ramos FJ, Rieubland C, Russo S, Selicorni A, Tümer Z, Vorstenbosch R, Wenger TL, van Balkom I, Piening S, Wierzba J, Hennekam RC.

Am J Med Genet A. 2017 Aug;173(8):2108-2125. doi: 10.1002/ajmg.a.38279. Epub 2017 May 26.

PMID:
28548707
11.

Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene.

van Rij MC, Jansen FA, Hellebrekers DM, Onkenhout W, Smeets HJ, Hendrickx AT, Gottschalk RW, Steggerda SJ, Peeters-Scholte CM, Haak MC, Hilhorst-Hofstee Y.

Clin Case Rep. 2016 Mar 16;4(4):425-8. doi: 10.1002/ccr3.511. eCollection 2016 Apr.

12.

Higher Incidence of Hypospadias in Monochorionic Twins.

Visser R, Burger NC, van Zwet EW, Hilhorst-Hofstee Y, Haak MC, van den Hoek J, Oepkes D, Lopriore E.

Twin Res Hum Genet. 2015 Oct;18(5):591-4. doi: 10.1017/thg.2015.55. Epub 2015 Aug 14.

PMID:
26271273
13.

SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

Micha D, Guo DC, Hilhorst-Hofstee Y, van Kooten F, Atmaja D, Overwater E, Cayami FK, Regalado ES, van Uffelen R, Venselaar H, Faradz SM, Vriend G, Weiss MM, Sistermans EA, Maugeri A, Milewicz DM, Pals G, van Dijk FS.

Hum Mutat. 2015 Dec;36(12):1145-9. doi: 10.1002/humu.22854. Epub 2015 Sep 10.

PMID:
26247899
14.

Clinical and molecular characterization of an infant with a tandem duplication and deletion of 19p13.

Tan RN, Witlox RS, Hilhorst-Hofstee Y, Peeters-Scholte CM, den Hollander NS, Ruivenkamp CA, Hoffer MJ, Hansson KB, van Roosmalen MJ, Kloosterman WP, Santen GW.

Am J Med Genet A. 2015 Aug;167A(8):1884-9. doi: 10.1002/ajmg.a.37076. Epub 2015 Apr 21.

PMID:
25900458
15.

[Multidisciplinary practice guideline 'Marfan syndrome'].

Hilhorst-Hofstee Y.

Ned Tijdschr Geneeskd. 2013;157(50):A6658. Review. Dutch.

PMID:
24326138
16.

GPSM2 and Chudley-McCullough syndrome: a Dutch founder variant brought to North America.

Almomani R, Sun Y, Aten E, Hilhorst-Hofstee Y, Peeters-Scholte CM, van Haeringen A, Hendriks YM, den Dunnen JT, Breuning MH, Kriek M, Santen GW.

Am J Med Genet A. 2013 May;161A(5):973-6. doi: 10.1002/ajmg.a.35808. Epub 2013 Mar 13.

PMID:
23494849
17.

Rapid aortic aneurysm formation in Marfan patient with dissection of the entire aorta.

Scholte AJ, Hilhorst-Hofstee Y, Versteegh MI, Kroft LJ.

Eur Heart J Cardiovasc Imaging. 2013 May;14(5):507. doi: 10.1093/ehjci/jes289. Epub 2012 Dec 5. No abstract available.

PMID:
23221101
18.

MRI-assessed regional pulse wave velocity for predicting absence of regional aorta luminal growth in marfan syndrome.

Kröner ES, Scholte AJ, de Koning PJ, van den Boogaard PJ, Kroft LJ, van der Geest RJ, Hilhorst-Hofstee Y, Lamb HJ, Siebelink HM, Mulder BJ, Groenink M, Radonic T, van der Wall EE, de Roos A, Reiber JH, Westenberg JJ.

Int J Cardiol. 2013 Sep 10;167(6):2977-82. doi: 10.1016/j.ijcard.2012.08.057. Epub 2012 Sep 20.

19.

Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.

DeScipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, McDonald MT, Aradhya S, Ho D, Goldstein J, McGuire M, Mulchandani S, Medne L, Rupps R, Serrano AH, Thorland EC, Tsai AC, Hilhorst-Hofstee Y, Ruivenkamp CA, Van Esch H, Addor MC, Martinet D, Mason TB, Clark D, Spinner NB, Krantz ID.

Am J Med Genet A. 2012 Sep;158A(9):2152-61. doi: 10.1002/ajmg.a.35574. Epub 2012 Jul 27.

20.

An unanticipated copy number variant of chromosome 15 disrupting SMAD3 reveals a three-generation family at serious risk for aortic dissection.

Hilhorst-Hofstee Y, Scholte AJ, Rijlaarsdam ME, van Haeringen A, Kroft LJ, Reijnierse M, Ruivenkamp CA, Versteegh MI, Pals G, Breuning MH.

Clin Genet. 2013 Apr;83(4):337-44. doi: 10.1111/j.1399-0004.2012.01931.x. Epub 2012 Aug 21.

PMID:
22803640
21.

Evaluation of sampling density on the accuracy of aortic pulse wave velocity from velocity-encoded MRI in patients with Marfan syndrome.

Kröner ES, van der Geest RJ, Scholte AJ, Kroft LJ, van den Boogaard PJ, Hendriksen D, Lamb HJ, Siebelink HM, Mulder BJ, Groenink M, Radonic T, Hilhorst-Hofstee Y, Bax JJ, van der Wall EE, de Roos A, Reiber JH, Westenberg JJ.

J Magn Reson Imaging. 2012 Dec;36(6):1470-6. doi: 10.1002/jmri.23729. Epub 2012 Jun 22.

PMID:
22730278
22.

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.

van der Linde D, van de Laar IM, Bertoli-Avella AM, Oldenburg RA, Bekkers JA, Mattace-Raso FU, van den Meiracker AH, Moelker A, van Kooten F, Frohn-Mulder IM, Timmermans J, Moltzer E, Cobben JM, van Laer L, Loeys B, De Backer J, Coucke PJ, De Paepe A, Hilhorst-Hofstee Y, Wessels MW, Roos-Hesselink JW.

J Am Coll Cardiol. 2012 Jul 31;60(5):397-403. doi: 10.1016/j.jacc.2011.12.052. Epub 2012 May 23.

23.

Inflammation aggravates disease severity in Marfan syndrome patients.

Radonic T, de Witte P, Groenink M, de Waard V, Lutter R, van Eijk M, Jansen M, Timmermans J, Kempers M, Scholte AJ, Hilhorst-Hofstee Y, van den Berg MP, van Tintelen JP, Pals G, Baars MJ, Mulder BJ, Zwinderman AH.

PLoS One. 2012;7(3):e32963. doi: 10.1371/journal.pone.0032963. Epub 2012 Mar 30.

24.

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

Santen GW, Aten E, Sun Y, Almomani R, Gilissen C, Nielsen M, Kant SG, Snoeck IN, Peeters EA, Hilhorst-Hofstee Y, Wessels MW, den Hollander NS, Ruivenkamp CA, van Ommen GJ, Breuning MH, den Dunnen JT, van Haeringen A, Kriek M.

Nat Genet. 2012 Mar 18;44(4):379-80. doi: 10.1038/ng.2217.

PMID:
22426309
25.

Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome.

van de Laar IM, van der Linde D, Oei EH, Bos PK, Bessems JH, Bierma-Zeinstra SM, van Meer BL, Pals G, Oldenburg RA, Bekkers JA, Moelker A, de Graaf BM, Matyas G, Frohn-Mulder IM, Timmermans J, Hilhorst-Hofstee Y, Cobben JM, Bruggenwirth HT, van Laer L, Loeys B, De Backer J, Coucke PJ, Dietz HC, Willems PJ, Oostra BA, De Paepe A, Roos-Hesselink JW, Bertoli-Avella AM, Wessels MW.

J Med Genet. 2012 Jan;49(1):47-57. doi: 10.1136/jmedgenet-2011-100382.

PMID:
22167769
26.

Biventricular performance in patients with marfan syndrome without significant valvular disease: comparison to normal subjects and longitudinal follow-up.

Scherptong RW, Vliegen HW, van der Wall EE, Hilhorst-Hofstee Y, Bax JJ, Scholte AJ, Delgado V.

J Am Soc Echocardiogr. 2011 Dec;24(12):1392-1399.e1. doi: 10.1016/j.echo.2011.09.004. Epub 2011 Oct 14.

PMID:
22000778
27.

Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

Klaassens M, Reinstein E, Hilhorst-Hofstee Y, Schrander JJ, Malfait F, Staal H, ten Have LC, Blaauw J, Roggeveen HC, Krakow D, De Paepe A, van Steensel MA, Pals G, Graham JM Jr, Schrander-Stumpel CT.

Clin Genet. 2012 Aug;82(2):121-30. doi: 10.1111/j.1399-0004.2011.01758.x. Epub 2011 Aug 24.

28.

Dilatation of the great arteries in an infant with marfan syndrome and ventricular septal defect.

Rozendaal L, Blom NA, Hilhorst-Hofstee Y, Ten Harkel AD.

Case Rep Med. 2011;2011:172109. doi: 10.1155/2011/172109. Epub 2011 Jul 12.

29.

Age-related and regional changes of aortic stiffness in the Marfan syndrome: assessment with velocity-encoded MRI.

Westenberg JJ, Scholte AJ, Vaskova Z, van der Geest RJ, Groenink M, Labadie G, van den Boogaard PJ, Radonic T, Hilhorst-Hofstee Y, Mulder BJ, Kroft LJ, Reiber JH, de Roos A.

J Magn Reson Imaging. 2011 Sep;34(3):526-31. doi: 10.1002/jmri.22646. Epub 2011 Jul 14.

PMID:
21761466
30.

SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype.

Stoepker C, Hain K, Schuster B, Hilhorst-Hofstee Y, Rooimans MA, Steltenpool J, Oostra AB, Eirich K, Korthof ET, Nieuwint AW, Jaspers NG, Bettecken T, Joenje H, Schindler D, Rouse J, de Winter JP.

Nat Genet. 2011 Feb;43(2):138-41. doi: 10.1038/ng.751. Epub 2011 Jan 16.

PMID:
21240277
31.

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.

van de Laar IM, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, Verhagen JM, Hoedemaekers YM, Willemsen R, Severijnen LA, Venselaar H, Vriend G, Pattynama PM, Collée M, Majoor-Krakauer D, Poldermans D, Frohn-Mulder IM, Micha D, Timmermans J, Hilhorst-Hofstee Y, Bierma-Zeinstra SM, Willems PJ, Kros JM, Oei EH, Oostra BA, Wessels MW, Bertoli-Avella AM.

Nat Genet. 2011 Feb;43(2):121-6. doi: 10.1038/ng.744. Epub 2011 Jan 9.

PMID:
21217753
32.

The clinical spectrum of complete FBN1 allele deletions.

Hilhorst-Hofstee Y, Hamel BC, Verheij JB, Rijlaarsdam ME, Mancini GM, Cobben JM, Giroth C, Ruivenkamp CA, Hansson KB, Timmermans J, Moll HA, Breuning MH, Pals G.

Eur J Hum Genet. 2011 Mar;19(3):247-52. doi: 10.1038/ejhg.2010.174. Epub 2010 Nov 10.

33.

The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family.

Hilhorst-Hofstee Y, Rijlaarsdam ME, Scholte AJ, Swart-van den Berg M, Versteegh MI, van der Schoot-van Velzen I, Schäbitz HJ, Bijlsma EK, Baars MJ, Kerstjens-Frederikse WS, Giltay JC, Hamel BC, Breuning MH, Pals G.

Hum Mutat. 2010 Dec;31(12):E1915-27. doi: 10.1002/humu.21372.

34.

The revised Ghent nosology for the Marfan syndrome.

Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, Hilhorst-Hofstee Y, Jondeau G, Faivre L, Milewicz DM, Pyeritz RE, Sponseller PD, Wordsworth P, De Paepe AM.

J Med Genet. 2010 Jul;47(7):476-85. doi: 10.1136/jmg.2009.072785.

PMID:
20591885
35.

Additional cryptic CNVs in mentally retarded patients with apparently balanced karyotypes.

Gijsbers AC, Bosch CA, Dauwerse JG, Giromus O, Hansson K, Hilhorst-Hofstee Y, Kriek M, van Haeringen A, Bijlsma EK, Bakker E, Breuning MH, Ruivenkamp CA.

Eur J Med Genet. 2010 Sep-Oct;53(5):227-33. doi: 10.1016/j.ejmg.2010.06.003. Epub 2010 Jun 11.

PMID:
20542150
36.

Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation.

Aalberts JJ, Schuurman AG, Pals G, Hamel BJ, Bosman G, Hilhorst-Hofstee Y, Barge-Schaapveld DQ, Mulder BJ, van den Berg MP, van Tintelen JP.

Neth Heart J. 2010 Feb;18(2):85-9.

37.

A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features.

Dauwerse JG, Ruivenkamp CA, Hansson K, Marijnissen GM, Peters DJ, Breuning MH, Hilhorst-Hofstee Y.

Am J Med Genet A. 2010 Feb;152A(2):427-33. doi: 10.1002/ajmg.a.33203.

PMID:
20082467
38.

Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24.

Hilhorst-Hofstee Y, Tümer Z, Born P, Knijnenburg J, Hansson K, Yatawara V, Steensberg J, Ullmann R, Arkesteijn G, Tommerup N, Larsen LA.

Am J Med Genet A. 2009 Aug;149A(8):1830-3. doi: 10.1002/ajmg.a.32977. No abstract available.

PMID:
19610119
39.

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.

Van Dijk FS, Nesbitt IM, Nikkels PG, Dalton A, Bongers EM, van de Kamp JM, Hilhorst-Hofstee Y, Den Hollander NS, Lachmeijer AM, Marcelis CL, Tan-Sindhunata GM, van Rijn RR, Meijers-Heijboer H, Cobben JM, Pals G.

Eur J Hum Genet. 2009 Dec;17(12):1560-9. doi: 10.1038/ejhg.2009.75. Epub 2009 Jun 24. Erratum in: Eur J Hum Genet. 2009 Dec;17(12):1692.

40.

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

Doornbos M, Sikkema-Raddatz B, Ruijvenkamp CA, Dijkhuizen T, Bijlsma EK, Gijsbers AC, Hilhorst-Hofstee Y, Hordijk R, Verbruggen KT, Kerstjens-Frederikse WS, van Essen T, Kok K, van Silfhout AT, Breuning M, van Ravenswaaij-Arts CM.

Eur J Med Genet. 2009 Mar-Jun;52(2-3):108-15. doi: 10.1016/j.ejmg.2009.03.010. Epub 2009 Mar 27.

PMID:
19328872
41.

Compound-heterozygous Marfan syndrome.

Van Dijk FS, Hamel BC, Hilhorst-Hofstee Y, Mulder BJ, Timmermans J, Pals G, Cobben JM.

Eur J Med Genet. 2009 Jan-Feb;52(1):1-5. doi: 10.1016/j.ejmg.2008.11.004. Epub 2008 Nov 27.

PMID:
19059503
42.

Identification of copy number variants associated with BPES-like phenotypes.

Gijsbers AC, D'haene B, Hilhorst-Hofstee Y, Mannens M, Albrecht B, Seidel J, Witt DR, Maisenbacher MK, Loeys B, van Essen T, Bakker E, Hennekam R, Breuning MH, De Baere E, Ruivenkamp CA.

Hum Genet. 2008 Dec;124(5):489-98. doi: 10.1007/s00439-008-0574-9. Epub 2008 Oct 25.

PMID:
18953567
43.

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes.

Menko FH, Kneepkens CM, de Leeuw N, Peeters EA, Van Maldergem L, Kamsteeg EJ, Davidson R, Rozendaal L, Lasham CA, Peeters-Scholte CM, Jansweijer MC, Hilhorst-Hofstee Y, Gille JJ, Heins YM, Nieuwint AW, Sistermans EA.

Clin Genet. 2008 Aug;74(2):145-54. doi: 10.1111/j.1399-0004.2008.01026.x. Epub 2008 May 28.

44.

Intracranial hypertension in 2 children with marfan syndrome.

Hilhorst-Hofstee Y, Kroft LJ, Pals G, van Vugt JP, Overweg-Plandsoen WC.

J Child Neurol. 2008 Aug;23(8):954-5. doi: 10.1177/0883073808315341. Epub 2008 Mar 19.

PMID:
18354149
45.

A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.

Hoffer MJ, Hilhorst-Hofstee Y, Knijnenburg J, Hansson KB, Engelberts AC, Laan LA, Bakker E, Rosenberg C.

Eur J Med Genet. 2007 Mar-Apr;50(2):149-54. Epub 2006 Dec 8.

PMID:
17223398
46.

Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation.

Walenkamp MJ, Karperien M, Pereira AM, Hilhorst-Hofstee Y, van Doorn J, Chen JW, Mohan S, Denley A, Forbes B, van Duyvenvoorde HA, van Thiel SW, Sluimers CA, Bax JJ, de Laat JA, Breuning MB, Romijn JA, Wit JM.

J Clin Endocrinol Metab. 2005 May;90(5):2855-64. Epub 2005 Mar 15.

PMID:
15769976
47.

Two siblings below the age of 20 years with diverticular disease.

Claassen AT, Mourad-Baars PE, Mearin ML, Hilhorst-Hofstee Y, Gerritsen van der Hoop A.

Int J Colorectal Dis. 2006 Mar;21(2):190-1. Epub 2005 Jan 28. No abstract available.

PMID:
15678324
48.

Individuals with abnormal phenotype and normal G-banding karyotype: improvement and limitations in the diagnosis by the use of 24-colour FISH.

Bezrookove V, Hansson K, van der Burg M, van der Smagt JJ, Hilhorst-Hofstee Y, Wiegant J, Beverstock GC, Raap AK, Tanke H, Breuning MH, Rosenberg C.

Hum Genet. 2000 Apr;106(4):392-8.

PMID:
10830905
49.

Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?

Hilhorst-Hofstee Y, Shah N, Atherton D, Harper JI, Milla P, Winter RM.

Clin Dysmorphol. 2000 Apr;9(2):79-85.

PMID:
10826616
50.

Noninvasive test for fragile X syndrome, using hair root analysis.

Willemsen R, Anar B, De Diego Otero Y, de Vries BB, Hilhorst-Hofstee Y, Smits A, van Looveren E, Willems PJ, Galjaard H, Oostra BA.

Am J Hum Genet. 1999 Jul;65(1):98-103.

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