Bertoli-Avella AM - Search Results

1

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. Liu F, et al. Am J Hum Genet. 2007 Jul;81(1):17-31. doi: 10.1086/518720. Epub 2007 May 29. Am J Hum Genet. 2007. PMID: 17564960 Free PMC article.

2

Spectrum of FAR1 (Fatty Acyl-CoA Reductase 1) Variants and Related Neurological Conditions.

Westenberger A, Ruiz-Herrera A, Bozdoğan S, Bisgin A, Almuqbil M, Alhashem A, Alanzi T, Romito A, Rolfs A, Dias P, Gouveia Silva R, Bertoli-Avella AM, Bauer P, Beetz C. Westenberger A, et al. Among authors: bertoli avella am. Mov Disord. 2023 Mar;38(3):502-504. doi: 10.1002/mds.29323. Epub 2023 Feb 13. Mov Disord. 2023. PMID: 36781603 No abstract available.

3

Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.

Abdel-Salam GMH, Hellmuth S, Gradhand E, Käseberg S, Winter J, Pabst AS, Eid MM, Thiele H, Nürnberg P, Budde BS, Toliat MR, Brecht IB, Schroeder C, Gschwind A, Ossowski S, Häuser F, Rossmann H, Abdel-Hamid MS, Hegazy I, Mohamed AG, Schneider DT, Bertoli-Avella A, Bauer P, Pearring JN, Pfundt R, Hoischen A, Gilissen C, Strand D, Zechner U, Tashkandi SA, Faqeih EA, Stemmann O, Strand S, Bolz HJ. Abdel-Salam GMH, et al. JCI Insight. 2023 Nov 22;8(22):e170079. doi: 10.1172/jci.insight.170079. JCI Insight. 2023. PMID: 37796616 Free PMC article.

4

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.

Guatibonza Moreno P, Pardo LM, Pereira C, Schroeder S, Vagiri D, Almeida LS, Juaristi C, Hosny H, Loh CCY, Leubauer A, Torres Morales G, Oppermann S, Iurașcu MI, Fischer S, Steinicke TM, Viceconte N, Cozma C, Kandaswamy KK, Pinto Basto J, Böttcher T, Bauer P, Bertoli-Avella A. Guatibonza Moreno P, et al. Eur J Hum Genet. 2023 Oct;31(10):1108-1116. doi: 10.1038/s41431-023-01408-7. Epub 2023 Jul 11. Eur J Hum Genet. 2023. PMID: 37433892 Free PMC article.

5

A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease.

Bertoli Avella AM, Marcheco Teruel B, Llibre Rodriguez JJ, Gomez Viera N, Borrajero Martinez I, Severijnen EA, Joosse M, van Duijn CM, Heredero Baute L, Heutink P. Bertoli Avella AM, et al. Neurogenetics. 2002 Oct;4(2):97-104. doi: 10.1007/s10048-002-0136-6. Neurogenetics. 2002. PMID: 12484344

6

A new locus for postaxial polydactyly type A/B on chromosome 7q21-q34.

Galjaard RJ, Smits AP, Tuerlings JH, Bais AG, Bertoli Avella AM, Breedveld G, de Graaff E, Oostra BA, Heutink P. Galjaard RJ, et al. Eur J Hum Genet. 2003 May;11(5):409-15. doi: 10.1038/sj.ejhg.5200982. Eur J Hum Genet. 2003. PMID: 12734547

7

Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease.

Bertoli-Avella AM, Giroud-Benitez JL, Bonifati V, Alvarez-Gonzalez E, Heredero-Baute L, van Duijn CM, Heutink P. Bertoli-Avella AM, et al. Mov Disord. 2003 Nov;18(11):1240-9. doi: 10.1002/mds.10534. Mov Disord. 2003. PMID: 14639663

8

A study of gene--environment interaction on the gene for angiotensin converting enzyme: a combined functional and population based approach.

Sayed-Tabatabaei FA, Schut AF, Hofman A, Bertoli-Avella AM, Vergeer J, Witteman JC, van Duijn CM. Sayed-Tabatabaei FA, et al. J Med Genet. 2004 Feb;41(2):99-103. doi: 10.1136/jmg.2003.013441. J Med Genet. 2004. PMID: 14757856 Free PMC article.

9

Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease.

Croes EA, Alizadeh BZ, Bertoli-Avella AM, Rademaker T, Vergeer-Drop J, Dermaut B, Houwing-Duistermaat JJ, Wientjens DP, Hofman A, Van Broeckhoven C, van Duijn CM. Croes EA, et al. Eur J Hum Genet. 2004 May;12(5):389-94. doi: 10.1038/sj.ejhg.5201161. Eur J Hum Genet. 2004. PMID: 14970845

10

Chasing genes in Alzheimer's and Parkinson's disease.

Bertoli-Avella AM, Oostra BA, Heutink P. Bertoli-Avella AM, et al. Hum Genet. 2004 Apr;114(5):413-38. doi: 10.1007/s00439-004-1097-7. Epub 2004 Mar 4. Hum Genet. 2004. PMID: 14999561 Review.

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