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Items: 37

1.

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.

Pfundt R, Del Rosario M, Vissers LELM, Kwint MP, Janssen IM, de Leeuw N, Yntema HG, Nelen MR, Lugtenberg D, Kamsteeg EJ, Wieskamp N, Stegmann APA, Stevens SJC, Rodenburg RJT, Simons A, Mensenkamp AR, Rinne T, Gilissen C, Scheffer H, Veltman JA Prof Dr, Hehir-Kwa JY.

Genet Med. 2017 Jun;19(6):667-675. doi: 10.1038/gim.2016.163. Epub 2016 Oct 27.

2.

BRCA Testing by Single-Molecule Molecular Inversion Probes.

Neveling K, Mensenkamp AR, Derks R, Kwint M, Ouchene H, Steehouwer M, van Lier B, Bosgoed E, Rikken A, Tychon M, Zafeiropoulou D, Castelein S, Hehir-Kwa J, Tjwan Thung D, Hofste T, Lelieveld SH, Bertens SM, Adan IB, Eijkelenboom A, Tops BB, Yntema H, Stokowy T, Knappskog PM, Høberg-Vetti H, Steen VM, Boyle E, Martin B, Ligtenberg MJ, Shendure J, Nelen MR, Hoischen A.

Clin Chem. 2017 Feb;63(2):503-512. doi: 10.1373/clinchem.2016.263897. Epub 2016 Dec 14.

3.

Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing.

van Nimwegen KJ, van Soest RA, Veltman JA, Nelen MR, van der Wilt GJ, Vissers LE, Grutters JP.

Clin Chem. 2016 Nov;62(11):1458-1464. Epub 2016 Sep 14.

4.

Reliable Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue Using Single Molecule Tags.

Eijkelenboom A, Kamping EJ, Kastner-van Raaij AW, Hendriks-Cornelissen SJ, Neveling K, Kuiper RP, Hoischen A, Nelen MR, Ligtenberg MJ, Tops BB.

J Mol Diagn. 2016 Nov;18(6):851-863. doi: 10.1016/j.jmoldx.2016.06.010. Epub 2016 Sep 13.

5.

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.

Weren RD, Mensenkamp AR, Simons M, Eijkelenboom A, Sie AS, Ouchene H, van Asseldonk M, Gomez-Garcia EB, Blok MJ, de Hullu JA, Nelen MR, Hoischen A, Bulten J, Tops BB, Hoogerbrugge N, Ligtenberg MJ.

Hum Mutat. 2017 Feb;38(2):226-235. doi: 10.1002/humu.23137. Epub 2016 Nov 9.

6.

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

Lelieveld SH, Reijnders MR, Pfundt R, Yntema HG, Kamsteeg EJ, de Vries P, de Vries BB, Willemsen MH, Kleefstra T, Löhner K, Vreeburg M, Stevens SJ, van der Burgt I, Bongers EM, Stegmann AP, Rump P, Rinne T, Nelen MR, Veltman JA, Vissers LE, Brunner HG, Gilissen C.

Nat Neurosci. 2016 Sep;19(9):1194-6. doi: 10.1038/nn.4352. Epub 2016 Aug 1. Review.

PMID:
27479843
7.

Translating sanger-based routine DNA diagnostics into generic massive parallel ion semiconductor sequencing.

Diekstra A, Bosgoed E, Rikken A, van Lier B, Kamsteeg EJ, Tychon M, Derks RC, van Soest RA, Mensenkamp AR, Scheffer H, Neveling K, Nelen MR.

Clin Chem. 2015 Jan;61(1):154-62. doi: 10.1373/clinchem.2014.225250. Epub 2014 Oct 1.

8.

A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.

Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, Buijsman W, Derks RC, Wieskamp N, van den Heuvel B, Ligtenberg MJ, Kremer H, Koolen DA, van de Warrenburg BP, Cremers FP, Marcelis CL, Smeitink JA, Wortmann SB, van Zelst-Stams WA, Veltman JA, Brunner HG, Scheffer H, Nelen MR.

Hum Mutat. 2013 Dec;34(12):1721-6. doi: 10.1002/humu.22450. Epub 2013 Oct 18.

PMID:
24123792
9.

Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.

Weiss MM, Van der Zwaag B, Jongbloed JD, Vogel MJ, Brüggenwirth HT, Lekanne Deprez RH, Mook O, Ruivenkamp CA, van Slegtenhorst MA, van den Wijngaard A, Waisfisz Q, Nelen MR, van der Stoep N.

Hum Mutat. 2013 Oct;34(10):1313-21. doi: 10.1002/humu.22368. Epub 2013 Aug 19. Review.

PMID:
23776008
10.

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study.

Jakubowska A, Rozkrut D, Antoniou A, Hamann U, Scott RJ, McGuffog L, Healy S, Sinilnikova OM, Rennert G, Lejbkowicz F, Flugelman A, Andrulis IL, Glendon G, Ozcelik H; OCGN, Thomassen M, Paligo M, Aretini P; SWE-BRCA, Kantala J, Aroer B, von Wachenfeldt A, Liljegren A, Loman N, Herbst K, Kristoffersson U, Rosenquist R, Karlsson P, Stenmark-Askmalm M, Melin B, Nathanson KL, Domchek SM, Byrski T, Huzarski T, Gronwald J, Menkiszak J, Cybulski C, Serrano P, Osorio A, Cajal TR, Tsitlaidou M, Benítez J, Gilbert M; HEBON, Rookus M, Aalfs CM, Kluijt I, Boessenkool-Pape JL, Meijers-Heijboer HE, Oosterwijk JC, van Asperen CJ, Blok MJ, Nelen MR, van den Ouweland AM, Seynaeve C, van der Luijt RB, Devilee P; EMBRACE, Easton DF, Peock S, Frost D, Platte R, Ellis SD, Fineberg E, Evans DG, Lalloo F, Eeles R, Jacobs C, Adlard J, Davidson R, Eccles D, Cole T, Cook J, Godwin A, Bove B; GEMO Study Collaborators, Stoppa-Lyonnet D, Caux-Moncoutier V, Belotti M, Tirapo C, Mazoyer S, Barjhoux L, Boutry-Kryza N, Pujol P, Coupier I, Peyrat JP, Vennin P, Muller D, Fricker JP, Venat-Bouvet L, Johannsson OT, Isaacs C, Schmutzler R, Wappenschmidt B, Meindl A, Arnold N, Varon-Mateeva R, Niederacher D, Sutter C, Deissler H, Preisler-Adams S, Simard J, Soucy P, Durocher F, Chenevix-Trench G, Beesley J, Chen X; KConFab, Rebbeck T, Couch F, Wang X, Lindor N, Fredericksen Z, Pankratz VS, Peterlongo P, Bonanni B, Fortuzzi S, Peissel B, Szabo C, Mai PL, Loud JT, Lubinski J; CIMBA, the Consortium of Investigators of Modifiers of BRCA1/2-Related Cancer.

Br J Cancer. 2012 Jun 5;106(12):2016-24. doi: 10.1038/bjc.2012.160. Epub 2012 May 15.

11.

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.

Mulligan AM, Couch FJ, Barrowdale D, Domchek SM, Eccles D, Nevanlinna H, Ramus SJ, Robson M, Sherman M, Spurdle AB, Wappenschmidt B, Lee A, McGuffog L, Healey S, Sinilnikova OM, Janavicius R, Hansen Tv, Nielsen FC, Ejlertsen B, Osorio A, Muñoz-Repeto I, Durán M, Godino J, Pertesi M, Benítez J, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Cattaneo E, Bonanni B, Viel A, Pasini B, Papi L, Ottini L, Savarese A, Bernard L, Radice P, Hamann U, Verheus M, Meijers-Heijboer HE, Wijnen J, Gómez García EB, Nelen MR, Kets CM, Seynaeve C, Tilanus-Linthorst MM, van der Luijt RB, van Os T, Rookus M, Frost D, Jones JL, Evans DG, Lalloo F, Eeles R, Izatt L, Adlard J, Davidson R, Cook J, Donaldson A, Dorkins H, Gregory H, Eason J, Houghton C, Barwell J, Side LE, McCann E, Murray A, Peock S, Godwin AK, Schmutzler RK, Rhiem K, Engel C, Meindl A, Ruehl I, Arnold N, Niederacher D, Sutter C, Deissler H, Gadzicki D, Kast K, Preisler-Adams S, Varon-Mateeva R, Schoenbuchner I, Fiebig B, Heinritz W, Schäfer D, Gevensleben H, Caux-Moncoutier V, Fassy-Colcombet M, Cornelis F, Mazoyer S, Léoné M, Boutry-Kryza N, Hardouin A, Berthet P, Muller D, Fricker JP, Mortemousque I, Pujol P, Coupier I, Lebrun M, Kientz C, Longy M, Sevenet N, Stoppa-Lyonnet D, Isaacs C, Caldes T, de la Hoya M, Heikkinen T, Aittomäki K, Blanco I, Lazaro C, Barkardottir RB, Soucy P, Dumont M, Simard J, Montagna M, Tognazzo S, D'Andrea E, Fox S, Yan M, Rebbeck T, Olopade O, Weitzel JN, Lynch HT, Ganz PA, Tomlinson GE, Wang X, Fredericksen Z, Pankratz VS, Lindor NM, Szabo C, Offit K, Sakr R, Gaudet M, Bhatia J, Kauff N, Singer CF, Tea MK, Gschwantler-Kaulich D, Fink-Retter A, Mai PL, Greene MH, Imyanitov E, O'Malley FP, Ozcelik H, Glendon G, Toland AE, Gerdes AM, Thomassen M, Kruse TA, Jensen UB, Skytte AB, Caligo MA, Soller M, Henriksson K, Wachenfeldt vA, Arver B, Stenmark-Askmalm M, Karlsson P, Ding YC, Neuhausen SL, Beattie M, Pharoah PD, Moysich KB, Nathanson KL, Karlan BY, Gross J, John EM, Daly MB, Buys SM, Southey MC, Hopper JL, Terry MB, Chung W, Miron AF, Goldgar D, Chenevix-Trench G, Easton DF, Andrulis IL, Antoniou AC; Breast Cancer Family Registry; EMBRACE; GEMO Study Collaborators; HEBON; kConFab Investigators; Ontario Cancer Genetics Network; SWE-BRCA; CIMBA.

Breast Cancer Res. 2011;13(6):R110. doi: 10.1186/bcr3052. Epub 2011 Nov 2.

12.

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Antoniou AC, Kartsonaki C, Sinilnikova OM, Soucy P, McGuffog L, Healey S, Lee A, Peterlongo P, Manoukian S, Peissel B, Zaffaroni D, Cattaneo E, Barile M, Pensotti V, Pasini B, Dolcetti R, Giannini G, Putignano AL, Varesco L, Radice P, Mai PL, Greene MH, Andrulis IL, Glendon G, Ozcelik H, Thomassen M, Gerdes AM, Kruse TA, Birk Jensen U, Crüger DG, Caligo MA, Laitman Y, Milgrom R, Kaufman B, Paluch-Shimon S, Friedman E, Loman N, Harbst K, Lindblom A, Arver B, Ehrencrona H, Melin B; SWE-BRCA, Nathanson KL, Domchek SM, Rebbeck T, Jakubowska A, Lubinski J, Gronwald J, Huzarski T, Byrski T, Cybulski C, Gorski B, Osorio A, Ramón y Cajal T, Fostira F, Andrés R, Benitez J, Hamann U, Hogervorst FB, Rookus MA, Hooning MJ, Nelen MR, van der Luijt RB, van Os TA, van Asperen CJ, Devilee P, Meijers-Heijboer HE, Gómez Garcia EB; HEBON, Peock S, Cook M, Frost D, Platte R, Leyland J, Evans DG, Lalloo F, Eeles R, Izatt L, Adlard J, Davidson R, Eccles D, Ong KR, Cook J, Douglas F, Paterson J, Kennedy MJ, Miedzybrodzka Z; EMBRACE, Godwin A, Stoppa-Lyonnet D, Buecher B, Belotti M, Tirapo C, Mazoyer S, Barjhoux L, Lasset C, Leroux D, Faivre L, Bronner M, Prieur F, Nogues C, Rouleau E, Pujol P, Coupier I, Frénay M; CEMO Study Collaborators, Hopper JL, Daly MB, Terry MB, John EM, Buys SS, Yassin Y, Miron A, Goldgar D; Breast Cancer Family Registry, Singer CF, Tea MK, Pfeiler G, Dressler AC, Hansen Tv, Jønson L, Ejlertsen B, Barkardottir RB, Kirchhoff T, Offit K, Piedmonte M, Rodriguez G, Small L, Boggess J, Blank S, Basil J, Azodi M, Toland AE, Montagna M, Tognazzo S, Agata S, Imyanitov E, Janavicius R, Lazaro C, Blanco I, Pharoah PD, Sucheston L, Karlan BY, Walsh CS, Olah E, Bozsik A, Teo SH, Seldon JL, Beattie MS, van Rensburg EJ, Sluiter MD, Diez O, Schmutzler RK, Wappenschmidt B, Engel C, Meindl A, Ruehl I, Varon-Mateeva R, Kast K, Deissler H, Niederacher D, Arnold N, Gadzicki D, Schönbuchner I, Caldes T, de la Hoya M, Nevanlinna H, Aittomäki K, Dumont M, Chiquette J, Tischkowitz M, Chen X, Beesley J, Spurdle AB; kConFab investigators, Neuhausen SL, Chun Ding Y, Fredericksen Z, Wang X, Pankratz VS, Couch F, Simard J, Easton DF, Chenevix-Trench G; CIMBA.

Hum Mol Genet. 2011 Aug 15;20(16):3304-21. doi: 10.1093/hmg/ddr226. Epub 2011 May 18.

13.

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers.

Walker LC, Fredericksen ZS, Wang X, Tarrell R, Pankratz VS, Lindor NM, Beesley J, Healey S, Chen X; kConFab, Stoppa-Lyonnet D, Tirapo C, Giraud S, Mazoyer S, Muller D, Fricker JP, Delnatte C; GEMO Study Collaborators, Schmutzler RK, Wappenschmidt B, Engel C, Schönbuchner I, Deissler H, Meindl A, Hogervorst FB, Verheus M, Hooning MJ, van den Ouweland AM, Nelen MR, Ausems MG, Aalfs CM, van Asperen CJ, Devilee P, Gerrits MM, Waisfisz Q; HEBON, Szabo CI; ModSQuaD, Easton DF, Peock S, Cook M, Oliver CT, Frost D, Harrington P, Evans DG, Lalloo F, Eeles R, Izatt L, Chu C, Davidson R, Eccles D, Ong KR, Cook J; EMBRACE, Rebbeck T, Nathanson KL, Domchek SM, Singer CF, Gschwantler-Kaulich D, Dressler AC, Pfeiler G, Godwin AK, Heikkinen T, Nevanlinna H, Agnarsson BA, Caligo MA, Olsson H, Kristoffersson U, Liljegren A, Arver B, Karlsson P, Melin B; SWE-BRCA, Sinilnikova OM, McGuffog L, Antoniou AC, Chenevix-Trench G, Spurdle AB, Couch FJ.

Breast Cancer Res. 2010;12(6):R102. doi: 10.1186/bcr2785. Epub 2010 Nov 29.

14.

A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.

van der Zwaag B, Staal WG, Hochstenbach R, Poot M, Spierenburg HA, de Jonge MV, Verbeek NE, van 't Slot R, van Es MA, Staal FJ, Freitag CM, Buizer-Voskamp JE, Nelen MR, van den Berg LH, van Amstel HK, van Engeland H, Burbach JP.

Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):960-6. doi: 10.1002/ajmg.b.31055.

15.

New ECG criteria in arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Cox MG, van der Smagt JJ, Wilde AA, Wiesfeld AC, Atsma DE, Nelen MR, Rodriguez LM, Loh P, Cramer MJ, Doevendans PA, van Tintelen JP, de Bakker JM, Hauer RN.

Circ Arrhythm Electrophysiol. 2009 Oct;2(5):524-30. doi: 10.1161/CIRCEP.108.832519. Epub 2009 Jul 7.

PMID:
19843920
16.

A duplication including GATA4 does not co-segregate with congenital heart defects.

Joziasse IC, van der Smagt JJ, Poot M, Hochstenbach R, Nelen MR, van Gijn M, Dooijes D, Mulder BJ, Doevendans PA.

Am J Med Genet A. 2009 May;149A(5):1062-6. doi: 10.1002/ajmg.a.32769. No abstract available.

PMID:
19353638
17.

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.

Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE.

N Engl J Med. 2008 Oct 16;359(16):1685-99. doi: 10.1056/NEJMoa0805384. Epub 2008 Sep 10.

18.

Activation delay and VT parameters in arrhythmogenic right ventricular dysplasia/cardiomyopathy: toward improvement of diagnostic ECG criteria.

Cox MG, Nelen MR, Wilde AA, Wiesfeld AC, van der Smagt JJ, Loh P, Cramer MJ, Doevendans PA, van Tintelen JP, de Bakker JM, Hauer RN.

J Cardiovasc Electrophysiol. 2008 Aug;19(8):775-81. doi: 10.1111/j.1540-8167.2008.01140.x. Epub 2008 Mar 26.

PMID:
18373594
19.

DNA analysis of AHI1, NPHP1 and CYCLIN D1 in Joubert syndrome patients from the Netherlands.

Kroes HY, van Zon PH, Fransen van de Putte D, Nelen MR, Nievelstein RJ, Wittebol-Post D, van Nieuwenhuizen O, Mancini GM, van der Knaap MS, Kwee ML, Maas SM, Cobben JM, De Nef JE, Lindhout D, Sinke RJ.

Eur J Med Genet. 2008 Jan-Feb;51(1):24-34. Epub 2007 Oct 6.

PMID:
18054307
20.

Fen1 does not control somatic hypermutability of the (CTG)(n)*(CAG)(n) repeat in a knock-in mouse model for DM1.

van den Broek WJ, Nelen MR, van der Heijden GW, Wansink DG, Wieringa B.

FEBS Lett. 2006 Oct 2;580(22):5208-14. Epub 2006 Sep 5.

21.

An unexpected Cowden syndrome case found among members of a large familial adenomatous polyposis kindred.

Mehenni H, Friedl W, Nelen MR, Hutter P, Brundler MA.

Eur J Gastroenterol Hepatol. 2005 Dec;17(12):1407-12.

PMID:
16292097
22.

Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins.

van den Broek WJ, Nelen MR, Wansink DG, Coerwinkel MM, te Riele H, Groenen PJ, Wieringa B.

Hum Mol Genet. 2002 Jan 15;11(2):191-8.

PMID:
11809728
23.

PTEN mutation analysis in two genetic subtypes of high-grade oligodendroglial tumors. PTEN is only occasionally mutated in one of the two genetic subtypes.

Jeuken JW, Nelen MR, Vermeer H, van Staveren WC, Kremer H, van Overbeeke JJ, Boerman RH.

Cancer Genet Cytogenet. 2000 May;119(1):42-7.

PMID:
10812170
24.

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.

Nelen MR, Kremer H, Konings IB, Schoute F, van Essen AJ, Koch R, Woods CG, Fryns JP, Hamel B, Hoefsloot LH, Peeters EA, Padberg GW.

Eur J Hum Genet. 1999 Apr;7(3):267-73.

25.

Lhermitte-Duclos disease as a component of Cowden's syndrome. Case report and review of the literature.

Koch R, Scholz M, Nelen MR, Schwechheimer K, Epplen JT, Harders AG.

J Neurosurg. 1999 Apr;90(4):776-9. Review.

PMID:
10193626
26.

Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

Nelen MR, van Staveren WC, Peeters EA, Hassel MB, Gorlin RJ, Hamm H, Lindboe CF, Fryns JP, Sijmons RH, Woods DG, Mariman EC, Padberg GW, Kremer H.

Hum Mol Genet. 1997 Aug;6(8):1383-7.

PMID:
9259288
27.

Localization of the gene for Cowden disease to chromosome 10q22-23.

Nelen MR, Padberg GW, Peeters EA, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, van Reen MM, Easton DF, Eeles RA, Hodgsen S, Mulvihill JJ, Murday VA, Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C.

Nat Genet. 1996 May;13(1):114-6.

PMID:
8673088
28.

Genomic footprinting of mitochondrial DNA: I. In organello analysis of protein-mitochondrial DNA interactions in bovine mitochondria.

Madsen CS, Ghivizzani SC, Ammini CV, Nelen MR, Hauswirth WW.

Methods Enzymol. 1996;264:12-22. No abstract available.

PMID:
8965685
29.
30.

Familial Angelman syndrome with a crossover in the critical deletion region.

Nelen MR, Van der Burgt CJ, Nillesen WN, Vis A, Smeets HJ.

Am J Med Genet. 1994 Sep 1;52(3):352-7.

PMID:
7810569
31.

Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.

Lemmink HH, Schröder CH, Brunner HG, Nelen MR, Zhou J, Tryggvason K, Haagsma-Schouten WA, Roodvoets AP, Rascher W, van Oost BA, et al.

Genomics. 1993 Aug;17(2):485-9.

PMID:
8406498
32.

X-linked borderline mental retardation with prominent behavioral disturbance: phenotype, genetic localization, and evidence for disturbed monoamine metabolism.

Brunner HG, Nelen MR, van Zandvoort P, Abeling NG, van Gennip AH, Wolters EC, Kuiper MA, Ropers HH, van Oost BA.

Am J Hum Genet. 1993 Jun;52(6):1032-9.

33.

Brief report: reverse mutation in myotonic dystrophy.

Brunner HG, Jansen G, Nillesen W, Nelen MR, de Die CE, Höweler CJ, van Oost BA, Wieringa B, Ropers HH, Smeets HJ.

N Engl J Med. 1993 Feb 18;328(7):476-80. No abstract available.

34.

Linkage analysis with chromosome 15q11-13 markers shows genomic imprinting in familial Angelman syndrome.

Meijers-Heijboer EJ, Sandkuijl LA, Brunner HG, Smeets HJ, Hoogeboom AJ, Deelen WH, van Hemel JO, Nelen MR, Smeets DF, Niermeijer MF, et al.

J Med Genet. 1992 Dec;29(12):853-7.

35.

Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.

Smeets HJ, Melenhorst JJ, Lemmink HH, Schröder CH, Nelen MR, Zhou J, Hostikka SL, Tryggvason K, Ropers HH, Jansweijer MC, et al.

Kidney Int. 1992 Jul;42(1):83-8.

36.

Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15.

Smeets DF, Hamel BC, Nelen MR, Smeets HJ, Bollen JH, Smits AP, Ropers HH, van Oost BA.

N Engl J Med. 1992 Mar 19;326(12):807-11. No abstract available.

37.

Exclusion of the dysplastic nevus syndrome (DNS) locus from the short arm of chromosome 1 by linkage studies in Dutch families.

van Haeringen A, Bergman W, Nelen MR, van der Kooij-Meijs E, Hendrikse I, Wijnen JT, Khan PM, Klasen EC, Frants RR.

Genomics. 1989 Jul;5(1):61-4.

PMID:
2504660

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