Moortgat S - Search Results

1

FOXP1-related intellectual disability syndrome: a recognisable entity.

Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B. Meerschaut I, et al. Among authors: moortgat s. J Med Genet. 2017 Sep;54(9):613-623. doi: 10.1136/jmedgenet-2017-104579. Epub 2017 Jul 22. J Med Genet. 2017. PMID: 28735298

2

Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.

Moortgat S, Verellen-Dumoulin C, Maystadt I, Parmentier B, Grisart B, Hennecker JL, Destree A. Moortgat S, et al. Eur J Med Genet. 2011 Mar-Apr;54(2):177-80. doi: 10.1016/j.ejmg.2010.11.011. Epub 2010 Dec 15. Eur J Med Genet. 2011. PMID: 21167329

3

RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family.

Maystadt I, Destree A, Benoit V, Aeby A, Lederer D, Moortgat S, Jurkiewicz D, Krajewska-Walasek M, Hanauer A, Thomas GM. Maystadt I, et al. Among authors: moortgat s. Clin Genet. 2014 Jan;85(1):96-9. doi: 10.1111/cge.12122. Epub 2013 Mar 17. Clin Genet. 2014. PMID: 23495752 No abstract available.

4

A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation.

Moortgat S, Benoit V, Deprez M, Charon A, Maystadt I. Moortgat S, et al. Eur J Med Genet. 2014 Apr;57(5):212-5. doi: 10.1016/j.ejmg.2014.02.003. Epub 2014 Mar 5. Eur J Med Genet. 2014. PMID: 24613578

5

Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.

Moortgat S, Désir J, Benoit V, Boulanger S, Pendeville H, Nassogne MC, Lederer D, Maystadt I. Moortgat S, et al. Am J Med Genet A. 2016 Nov;170(11):2927-2933. doi: 10.1002/ajmg.a.37792. Epub 2016 Jun 22. Am J Med Genet A. 2016. PMID: 27333055

6

Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.

Lambert S, Maystadt I, Boulanger S, Vrielynck P, Destrée A, Lederer D, Moortgat S. Lambert S, et al. Among authors: moortgat s. Eur J Med Genet. 2016 Oct;59(10):522-5. doi: 10.1016/j.ejmg.2016.07.003. Epub 2016 Jul 25. Eur J Med Genet. 2016. PMID: 27465203

7

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA. Moortgat S, et al. Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27. Eur J Hum Genet. 2018. PMID: 29180823 Free PMC article.

8

Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.

Moortgat S, Lederer D, Deprez M, Buzatu M, Clapuyt P, Boulanger S, Benoit V, Mary S, Guichet A, Ziegler A, Colin E, Bonneau D, Maystadt I. Moortgat S, et al. Eur J Med Genet. 2018 Aug;61(8):442-450. doi: 10.1016/j.ejmg.2018.03.002. Epub 2018 Mar 3. Eur J Med Genet. 2018. PMID: 29510240 Review.

9

Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.

Stouffs K, Moortgat S, Vanderhasselt T, Vandervore L, Dica A, Mathot M, Keymolen K, Seneca S, Gheldof A, De Meirleir L, Jansen AC. Stouffs K, et al. Among authors: moortgat s. Eur J Med Genet. 2018 Dec;61(12):733-737. doi: 10.1016/j.ejmg.2018.06.001. Epub 2018 Jun 5. Eur J Med Genet. 2018. PMID: 29883675

10

A second case of Okamoto syndrome caused by HNRNPK mutation.

Maystadt I, Deprez M, Moortgat S, Benoît V, Karadurmus D. Maystadt I, et al. Among authors: moortgat s. Am J Med Genet A. 2020 Jun;182(6):1537-1539. doi: 10.1002/ajmg.a.61568. Epub 2020 Mar 28. Am J Med Genet A. 2020. PMID: 32222014 No abstract available.

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