Isrie M - Search Results

1

HUWE1 mutation explains phenotypic severity in a case of familial idiopathic intellectual disability.

Isrie M, Kalscheuer VM, Holvoet M, Fieremans N, Van Esch H, Devriendt K. Isrie M, et al. Eur J Med Genet. 2013 Jul;56(7):379-82. doi: 10.1016/j.ejmg.2013.05.005. Epub 2013 May 27. Eur J Med Genet. 2013. PMID: 23721686

2

Sporadic male patients with intellectual disability: contribution of X-chromosome copy number variants.

Isrie M, Froyen G, Devriendt K, de Ravel T, Fryns JP, Vermeesch JR, Van Esch H. Isrie M, et al. Eur J Med Genet. 2012 Nov;55(11):577-85. doi: 10.1016/j.ejmg.2012.05.005. Epub 2012 May 30. Eur J Med Genet. 2012. PMID: 22659343

3

Isolated terminal limb reduction defects: extending the clinical spectrum of Adams-Oliver syndrome and ARHGAP31 mutations.

Isrie M, Wuyts W, Van Esch H, Devriendt K. Isrie M, et al. Am J Med Genet A. 2014 Jun;164A(6):1576-9. doi: 10.1002/ajmg.a.36486. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668619

4

Homozygous missense mutation in STYXL1 associated with moderate intellectual disability, epilepsy and behavioural complexities.

Isrie M, Zamani Esteki M, Peeters H, Voet T, Van Houdt J, Van Paesschen W, Van Esch H. Isrie M, et al. Eur J Med Genet. 2015 Apr;58(4):205-10. doi: 10.1016/j.ejmg.2015.02.006. Epub 2015 Feb 24. Eur J Med Genet. 2015. PMID: 25724587

5

Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.

Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM. Roosing S, et al. Among authors: isrie m. J Med Genet. 2016 Sep;53(9):608-15. doi: 10.1136/jmedgenet-2016-103832. Epub 2016 May 6. J Med Genet. 2016. PMID: 27208211 Free PMC article.

6

Pseudoautosomal region 1 length polymorphism in the human population.

Mensah MA, Hestand MS, Larmuseau MH, Isrie M, Vanderheyden N, Declercq M, Souche EL, Van Houdt J, Stoeva R, Van Esch H, Devriendt K, Voet T, Decorte R, Robinson PN, Vermeesch JR. Mensah MA, et al. Among authors: isrie m. PLoS Genet. 2014 Nov 6;10(11):e1004578. doi: 10.1371/journal.pgen.1004578. eCollection 2014 Nov. PLoS Genet. 2014. PMID: 25375121 Free PMC article.

7

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

Isrie M, Breuss M, Tian G, Hansen AH, Cristofoli F, Morandell J, Kupchinsky ZA, Sifrim A, Rodriguez-Rodriguez CM, Dapena EP, Doonanco K, Leonard N, Tinsa F, Moortgat S, Ulucan H, Koparir E, Karaca E, Katsanis N, Marton V, Vermeesch JR, Davis EE, Cowan NJ, Keays DA, Van Esch H. Isrie M, et al. Am J Hum Genet. 2015 Dec 3;97(6):790-800. doi: 10.1016/j.ajhg.2015.10.014. Am J Hum Genet. 2015. PMID: 26637975 Free PMC article.

8

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy.

Siekierska A, Isrie M, Liu Y, Scheldeman C, Vanthillo N, Lagae L, de Witte PA, Van Esch H, Goldfarb M, Buyse GM. Siekierska A, et al. Among authors: isrie m. Neurology. 2016 Jun 7;86(23):2162-70. doi: 10.1212/WNL.0000000000002752. Epub 2016 May 4. Neurology. 2016. PMID: 27164707 Free PMC article.

9

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms.

Isrie M, Hendriks Y, Gielissen N, Sistermans EA, Willemsen MH, Peeters H, Vermeesch JR, Kleefstra T, Van Esch H. Isrie M, et al. Eur J Hum Genet. 2012 Feb;20(2):131-3. doi: 10.1038/ejhg.2011.105. Epub 2011 Jun 8. Eur J Hum Genet. 2012. PMID: 21654729 Free PMC article. No abstract available.

10

Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium.

Chawner SJRA, Mihaljevic M, Morrison S, Eser HY, Maillard AM, Nowakowska B; MINDDS Consortium; van den Bree MBM, Swillen A. Chawner SJRA, et al. Eur J Med Genet. 2020 Dec;63(12):104093. doi: 10.1016/j.ejmg.2020.104093. Epub 2020 Nov 5. Eur J Med Genet. 2020. PMID: 33160096 Free article.

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