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Items: 1 to 50 of 57

1.

A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia.

Yüksel Z, Vogel F, Alhashem AM, Alanzi TSA, Tabarki B, Kampe K, Kandaswamy KK, Werber M, Bertoli-Avella AM, Beetz C, Rolfs A, Bauer P.

Clin Genet. 2019 May;95(5):631-633. doi: 10.1111/cge.13513. Epub 2019 Feb 21. No abstract available.

PMID:
30791088
2.

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D.

Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23.

PMID:
30167850
3.

Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.

Bauer P, Kandaswamy KK, Weiss MER, Paknia O, Werber M, Bertoli-Avella AM, Yüksel Z, Bochinska M, Oprea GE, Kishore S, Weckesser V, Karges E, Rolfs A.

Genet Med. 2019 Jan;21(1):53-61. doi: 10.1038/s41436-018-0016-6. Epub 2018 Aug 13.

PMID:
30100613
4.

A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children.

Yavuz H, Bertoli-Avella AM, Alfadhel M, Al-Sannaa N, Kandaswamy KK, Al-Tuwaijri W, Rolfs A, Brandau O, Bauer P.

Clin Genet. 2018 Oct;94(3-4):393-395. doi: 10.1111/cge.13386. Epub 2018 Jul 30.

PMID:
30059600
5.

Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.

Hollink IHIM, Alfadhel M, Al-Wakeel AS, Ababneh F, Pfundt R, de Man SA, Abou Jamra R, Rolfs A, Bertoli-Avella AM, van de Laar IMBH.

J Hum Genet. 2018 Apr;63(4):539. doi: 10.1038/s10038-017-0373-z. Epub 2018 Mar 8.

PMID:
29576627
6.

Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.

Bertoli-Avella AM, Garcia-Aznar JM, Brandau O, Al-Hakami F, Yüksel Z, Marais A, Grüning NM, Abbasi Moheb L, Paknia O, Alshaikh N, Alameer S, Marafi MJ, Al-Mulla F, Al-Sannaa N, Rolfs A, Bauer P.

Eur J Hum Genet. 2018 Apr;26(4):592-598. doi: 10.1038/s41431-018-0097-3. Epub 2018 Feb 15.

7.

Expanding the clinical and genetic spectra of NKX6-2-related disorder.

Baldi C, Bertoli-Avella AM, Al-Sannaa N, Alfadhel M, Al-Thihli K, Alameer S, Elmonairy AA, Al Shamsi AM, Abdelrahman HA, Al-Gazali L, Shawli A, Al-Hakami F, Yavuz H, Kandaswamy KK, Rolfs A, Brandau O, Bauer P.

Clin Genet. 2018 May;93(5):1087-1092. doi: 10.1111/cge.13221.

PMID:
29388673
8.

A comprehensive global genotype-phenotype database for rare diseases.

Trujillano D, Oprea GE, Schmitz Y, Bertoli-Avella AM, Abou Jamra R, Rolfs A.

Mol Genet Genomic Med. 2016 Nov 23;5(1):66-75. doi: 10.1002/mgg3.262. eCollection 2017 Jan.

9.

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.

Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R.

Eur J Hum Genet. 2017 Feb;25(2):176-182. doi: 10.1038/ejhg.2016.146. Epub 2016 Nov 16.

10.

Defective Connective Tissue Remodeling in Smad3 Mice Leads to Accelerated Aneurysmal Growth Through Disturbed Downstream TGF-β Signaling.

van der Pluijm I, van Vliet N, von der Thusen JH, Robertus JL, Ridwan Y, van Heijningen PM, van Thiel BS, Vermeij M, Hoeks SE, Buijs-Offerman RMGB, Verhagen HJM, Kanaar R, Bertoli-Avella AM, Essers J.

EBioMedicine. 2016 Oct;12:280-294. doi: 10.1016/j.ebiom.2016.09.006. Epub 2016 Sep 10.

11.

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.

Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM.

J Exp Med. 2016 Jun 27;213(7):1163-74. doi: 10.1084/jem.20151529. Epub 2016 Jun 20.

12.

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.

Almomani R, Verhagen JM, Herkert JC, Brosens E, van Spaendonck-Zwarts KY, Asimaki A, van der Zwaag PA, Frohn-Mulder IM, Bertoli-Avella AM, Boven LG, van Slegtenhorst MA, van der Smagt JJ, van IJcken WF, Timmer B, van Stuijvenberg M, Verdijk RM, Saffitz JE, du Plessis FA, Michels M, Hofstra RM, Sinke RJ, van Tintelen JP, Wessels MW, Jongbloed JD, van de Laar IM.

J Am Coll Cardiol. 2016 Feb 9;67(5):515-25. doi: 10.1016/j.jacc.2015.10.093.

13.

Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.

Hollink IH, Alfadhel M, Al-Wakeel AS, Ababneh F, Pfundt R, de Man SA, Jamra RA, Rolfs A, Bertoli-Avella AM, van de Laar IM.

J Hum Genet. 2016 Mar;61(3):229-33. doi: 10.1038/jhg.2015.134. Epub 2015 Nov 26. Erratum in: J Hum Genet. 2018 Apr;63(4):539.

PMID:
26607181
14.

Frequent users of the emergency department services in the largest academic hospital in the Netherlands: a 5-year report.

Bertoli-Avella AM, Haagsma JA, Van Tiel S, Erasmus V, Polinder S, Van Beeck E, Patka P, Rood PP.

Eur J Emerg Med. 2017 Apr;24(2):130-135. doi: 10.1097/MEJ.0000000000000314.

PMID:
26287805
15.

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

Monroe GR, Harakalova M, van der Crabben SN, Majoor-Krakauer D, Bertoli-Avella AM, Moll FL, Oranen BI, Dooijes D, Vink A, Knoers NV, Maugeri A, Pals G, Nijman IJ, van Haaften G, Baas AF.

Am J Med Genet A. 2015 Jun;167(6):1196-203. doi: 10.1002/ajmg.a.36997. Epub 2015 Apr 2.

PMID:
25845371
16.

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections.

Bertoli-Avella AM, Gillis E, Morisaki H, Verhagen JMA, de Graaf BM, van de Beek G, Gallo E, Kruithof BPT, Venselaar H, Myers LA, Laga S, Doyle AJ, Oswald G, van Cappellen GWA, Yamanaka I, van der Helm RM, Beverloo B, de Klein A, Pardo L, Lammens M, Evers C, Devriendt K, Dumoulein M, Timmermans J, Bruggenwirth HT, Verheijen F, Rodrigus I, Baynam G, Kempers M, Saenen J, Van Craenenbroeck EM, Minatoya K, Matsukawa R, Tsukube T, Kubo N, Hofstra R, Goumans MJ, Bekkers JA, Roos-Hesselink JW, van de Laar IMBH, Dietz HC, Van Laer L, Morisaki T, Wessels MW, Loeys BL.

J Am Coll Cardiol. 2015 Apr 7;65(13):1324-1336. doi: 10.1016/j.jacc.2015.01.040.

17.

Systematic review of frequent users of emergency departments in non-US hospitals: state of the art.

van Tiel S, Rood PP, Bertoli-Avella AM, Erasmus V, Haagsma J, van Beeck E, Patka P, Polinder S.

Eur J Emerg Med. 2015 Oct;22(5):306-15. doi: 10.1097/MEJ.0000000000000242. Review.

PMID:
25647038
18.

Identification and analysis of a SMAD3 cis-acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome.

Raine EV, Reynard LN, van de Laar IM, Bertoli-Avella AM, Loughlin J.

Osteoarthritis Cartilage. 2014 May;22(5):698-705. doi: 10.1016/j.joca.2014.02.931. Epub 2014 Feb 28.

19.

[Patients with aneurysms and osteoarthritis: Marfan syndrome ruled out, so what is it?].

van der Linde D, van de Laar I, Moelker A, Wessels MW, Bertoli-Avella AM, Roos-Hesselink JW.

Ned Tijdschr Geneeskd. 2013;157(21):A5588. Review. Dutch.

PMID:
23693005
20.

Progression rate and early surgical experience in the new aggressive aneurysms-osteoarthritis syndrome.

van der Linde D, Bekkers JA, Mattace-Raso FU, van de Laar IM, Moelker A, van den Bosch AE, van Dalen BM, Timmermans J, Bertoli-Avella AM, Wessels MW, Bogers AJ, Roos-Hesselink JW.

Ann Thorac Surg. 2013 Feb;95(2):563-9. doi: 10.1016/j.athoracsur.2012.07.009. Epub 2012 Aug 30.

PMID:
22939450
21.

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.

22.

NPHP4 variants are associated with pleiotropic heart malformations.

French VM, van de Laar IM, Wessels MW, Rohe C, Roos-Hesselink JW, Wang G, Frohn-Mulder IM, Severijnen LA, de Graaf BM, Schot R, Breedveld G, Mientjes E, van Tienhoven M, Jadot E, Jiang Z, Verkerk A, Swagemakers S, Venselaar H, Rahimi Z, Najmabadi H, Meijers-Heijboer H, de Graaff E, Helbing WA, Willemsen R, Devriendt K, Belmont JW, Oostra BA, Amack JD, Bertoli-Avella AM.

Circ Res. 2012 Jun 8;110(12):1564-74. doi: 10.1161/CIRCRESAHA.112.269795. Epub 2012 May 1.

23.

Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.

Punzo F, Bertoli-Avella AM, Scianguetta S, Della Ragione F, Casale M, Ronzoni L, Cappellini MD, Forni G, Oostra BA, Perrotta S.

Orphanet J Rare Dis. 2011 Dec 30;6:89. doi: 10.1186/1750-1172-6-89.

24.

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
25.

Identification of RNA binding motif proteins essential for cardiovascular development.

Maragh S, Miller RA, Bessling SL, McGaughey DM, Wessels MW, de Graaf B, Stone EA, Bertoli-Avella AM, Gearhart JD, Fisher S, McCallion AS.

BMC Dev Biol. 2011 Oct 19;11:62. doi: 10.1186/1471-213X-11-62.

26.

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors.

Poulton CJ, Schot R, Kia SK, Jones M, Verheijen FW, Venselaar H, de Wit MC, de Graaff E, Bertoli-Avella AM, Mancini GM.

Am J Hum Genet. 2011 Aug 12;89(2):265-76. doi: 10.1016/j.ajhg.2011.07.006.

27.

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms.

Regalado ES, Guo DC, Villamizar C, Avidan N, Gilchrist D, McGillivray B, Clarke L, Bernier F, Santos-Cortez RL, Leal SM, Bertoli-Avella AM, Shendure J, Rieder MJ, Nickerson DA; NHLBI GO Exome Sequencing Project, Milewicz DM.

Circ Res. 2011 Sep 2;109(6):680-6. doi: 10.1161/CIRCRESAHA.111.248161. Epub 2011 Jul 21.

28.

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
29.

A mutation in the acyl-coenzyme A binding domain-containing protein 5 gene (ACBD5 ) identified in autosomal dominant thrombocytopenia.

Punzo F, Mientjes EJ, Rohe CF, Scianguetta S, Amendola G, Oostra BA, Bertoli-Avella AM, Perrotta S.

J Thromb Haemost. 2010 Sep;8(9):2085-7. doi: 10.1111/j.1538-7836.2010.03979.x. No abstract available.

30.

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.

Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJ, de Graaf B, Olmer R, Elfferich P, Neijs S, Kariminejad R, Suheyl Ezgü F, Tokatli A, Czartoryska B, Bosschaart AN, van den Bos-Terpstra F, Puissant H, Bürger F, Omran H, Eckert D, Filocamo M, Simeonov E, Willems PJ, Wevers RA, Niermeijer MF, Halley DJ, Poorthuis BJ, van Diggelen OP.

Hum Mutat. 2010 May;31(5):E1348-60. doi: 10.1002/humu.21234.

PMID:
20232353
31.

Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder.

Vegt R, Bertoli-Avella AM, Tulen JH, de Graaf B, Verkerk AJ, Vervoort J, Twigt CM, Maat-Kievit A, van Tuijl R, van der Lijn M, Hengeveld MW, Oostra BA.

Eur J Hum Genet. 2010 Feb;18(2):206-11. doi: 10.1038/ejhg.2009.148. Epub 2009 Aug 26.

32.

First locus for primary pulmonary vein stenosis maps to chromosome 2q.

van de Laar I, Wessels M, Frohn-Mulder I, Dalinghaus M, de Graaf B, van Tienhoven M, van der Moer P, Husen-Ebbinge M, Lequin M, Dooijes D, de Krijger R, Oostra BA, Bertoli-Avella AM.

Eur Heart J. 2009 Oct;30(20):2485-92. doi: 10.1093/eurheartj/ehp271. Epub 2009 Jul 4.

PMID:
19578166
33.

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy.

Verkerk AJ, Schot R, Dumee B, Schellekens K, Swagemakers S, Bertoli-Avella AM, Lequin MH, Dudink J, Govaert P, van Zwol AL, Hirst J, Wessels MW, Catsman-Berrevoets C, Verheijen FW, de Graaff E, de Coo IF, Kros JM, Willemsen R, Willems PJ, van der Spek PJ, Mancini GM.

Am J Hum Genet. 2009 Jul;85(1):40-52. doi: 10.1016/j.ajhg.2009.06.004. Epub 2009 Jun 25.

34.

A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

Brusse E, Majoor-Krakauer D, de Graaf BM, Visser GH, Swagemakers S, Boon AJ, Oostra BA, Bertoli-Avella AM.

Neurogenetics. 2009 Oct;10(4):289-97. doi: 10.1007/s10048-009-0193-1. Epub 2009 Apr 24.

35.

Autosomal dominant inheritance of cardiac valves anomalies in two families: extended spectrum of left-ventricular outflow tract obstruction.

Wessels MW, van de Laar IM, Roos-Hesselink J, Strikwerda S, Majoor-Krakauer DF, de Vries BB, Kerstjens-Frederikse WS, Vos YJ, de Graaf BM, Bertoli-Avella AM, Willems PJ.

Am J Med Genet A. 2009 Feb;149A(2):216-25. doi: 10.1002/ajmg.a.32594.

PMID:
19161153
36.

A genome-wide linkage scan in a Dutch family identifies a premature ovarian failure susceptibility locus.

Oldenburg RA, van Dooren MF, de Graaf B, Simons E, Govaerts L, Swagemakers S, Verkerk JM, Oostra BA, Bertoli-Avella AM.

Hum Reprod. 2008 Dec;23(12):2835-41. doi: 10.1093/humrep/den278. Epub 2008 Aug 9.

PMID:
18689850
37.

ROBO2 gene variants are associated with familial vesicoureteral reflux.

Bertoli-Avella AM, Conte ML, Punzo F, de Graaf BM, Lama G, La Manna A, Polito C, Grassia C, Nobili B, Rambaldi PF, Oostra BA, Perrotta S.

J Am Soc Nephrol. 2008 Apr;19(4):825-31. doi: 10.1681/ASN.2007060692. Epub 2008 Jan 30.

38.

A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.

Conte ML, Bertoli-Avella AM, de Graaf BM, Punzo F, Lama G, La Manna A, Grassia C, Rambaldi PF, Oostra BA, Perrotta S.

Pediatr Nephrol. 2008 Apr;23(4):587-95. doi: 10.1007/s00467-007-0675-z. Epub 2008 Jan 16.

39.

A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.

Wessels MW, De Graaf BM, Cohen-Overbeek TE, Spitaels SE, de Groot-de Laat LE, Ten Cate FJ, Frohn-Mulder IF, de Krijger R, Bartelings MM, Essed N, Wladimiroff JW, Niermeijer MF, Heutink P, Oostra BA, Dooijes D, Bertoli-Avella AM, Willems PJ.

Hum Genet. 2008 Jan;122(6):595-603. Epub 2007 Oct 16.

PMID:
17938964
40.

Relationship of the Ubiquilin 1 gene with Alzheimer's and Parkinson's disease and cognitive function.

Arias-Vásquez A, de Lau L, Pardo L, Liu F, Feng BJ, Bertoli-Avella A, Isaacs A, Aulchenko Y, Hofman A, Oostra B, Breteler M, van Duijn C.

Neurosci Lett. 2007 Aug 31;424(1):1-5. Epub 2007 Aug 1.

PMID:
17709205
41.

STOX1 gene in pre-eclampsia and intrauterine growth restriction.

Berends AL, Bertoli-Avella AM, de Groot CJ, van Duijn CM, Oostra BA, Steegers EA.

BJOG. 2007 Sep;114(9):1163-7. Epub 2007 Jul 6.

42.

A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population.

Liu F, Arias-Vásquez A, Sleegers K, Aulchenko YS, Kayser M, Sanchez-Juan P, Feng BJ, Bertoli-Avella AM, van Swieten J, Axenovich TI, Heutink P, van Broeckhoven C, Oostra BA, van Duijn CM.

Am J Hum Genet. 2007 Jul;81(1):17-31. Epub 2007 May 29.

43.

A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.

Brooks AS, Leegwater PA, Burzynski GM, Willems PJ, de Graaf B, van Langen I, Heutink P, Oostra BA, Hofstra RM, Bertoli-Avella AM.

J Med Genet. 2006 Jul;43(7):e35.

44.

Evidence for novel loci for late-onset Parkinson's disease in a genetic isolate from the Netherlands.

Bertoli-Avella AM, Dekker MC, Aulchenko YS, Houwing-Duistermaat JJ, Simons E, Testers L, Pardo LM, Rademaker TA, Snijders PJ, van Swieten JC, Bonifati V, Heutink P, van Duijn CM, Oostra BA.

Hum Genet. 2006 Mar;119(1-2):51-60. Epub 2005 Dec 14.

PMID:
16369765
45.

The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor.

Goldwurm S, Di Fonzo A, Simons EJ, Rohé CF, Zini M, Canesi M, Tesei S, Zecchinelli A, Antonini A, Mariani C, Meucci N, Sacilotto G, Sironi F, Salani G, Ferreira J, Chien HF, Fabrizio E, Vanacore N, Dalla Libera A, Stocchi F, Diroma C, Lamberti P, Sampaio C, Meco G, Barbosa E, Bertoli-Avella AM, Breedveld GJ, Oostra BA, Pezzoli G, Bonifati V.

J Med Genet. 2005 Nov;42(11):e65.

46.

ACE gene is associated with Alzheimer's disease and atrophy of hippocampus and amygdala.

Sleegers K, den Heijer T, van Dijk EJ, Hofman A, Bertoli-Avella AM, Koudstaal PJ, Breteler MM, van Duijn CM.

Neurobiol Aging. 2005 Aug-Sep;26(8):1153-9. Epub 2004 Nov 24.

PMID:
15917098
47.

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems.

Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM.

Am J Hum Genet. 2005 Jul;77(1):120-6. Epub 2005 May 9.

48.

A method for pooling alleles from different genotyping experiments.

Aulchenko YS, Bertoli-Avella AM, van Duijn CM.

Ann Hum Genet. 2005 Mar;69(Pt 2):233-8.

49.

Angiotensin converting enzyme gene polymorphism and cardiovascular morbidity and mortality: the Rotterdam Study.

Sayed-Tabatabaei FA, Schut AF, Arias Vásquez A, Bertoli-Avella AM, Hofman A, Witteman JC, van Duijn CM.

J Med Genet. 2005 Jan;42(1):26-30.

50.

Novel parkin mutations detected in patients with early-onset Parkinson's disease.

Bertoli-Avella AM, Giroud-Benitez JL, Akyol A, Barbosa E, Schaap O, van der Linde HC, Martignoni E, Lopiano L, Lamberti P, Fincati E, Antonini A, Stocchi F, Montagna P, Squitieri F, Marini P, Abbruzzese G, Fabbrini G, Marconi R, Dalla Libera A, Trianni G, Guidi M, De Gaetano A, Boff Maegawa G, De Leo A, Gallai V, de Rosa G, Vanacore N, Meco G, van Duijn CM, Oostra BA, Heutink P, Bonifati V; Italian Parkinson Genetics Network.

Mov Disord. 2005 Apr;20(4):424-31.

PMID:
15584030

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