Tawamie H - Search Results

1

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.

Volpi S, Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, Dückers G, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG, Giliani S, Gold MS, Jacobsen EM, Jansen MH, King JR, Laxer RM, Lupski JR, Mace E, Marcenaro S, Maroofian R, Meijer AB, Niehues T, Notarangelo LD, Orange J, Pannicke U, Pearson C, Picco P, Quinn PJ, Schulz A, Seeborg F, Stray-Pedersen A, Tawamie H, van Leeuwen EMM, Aiuti A, Yeung R, Schwarz K, Kuijpers TW. Volpi S, et al. Among authors: tawamie h. J Allergy Clin Immunol. 2019 Jun;143(6):2296-2299. doi: 10.1016/j.jaci.2019.02.003. Epub 2019 Feb 13. J Allergy Clin Immunol. 2019. PMID: 30771411 Free PMC article. No abstract available.

2

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency.

Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, Sticht H, Schwarze B, Lamont RE, Parboosingh JS, Bernier FP, Abou Jamra R. Buchert R, et al. Among authors: tawamie h. Am J Hum Genet. 2014 Nov 6;95(5):602-10. doi: 10.1016/j.ajhg.2014.10.003. Epub 2014 Oct 30. Am J Hum Genet. 2014. PMID: 25439727 Free PMC article.

3

Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.

Buchert R, Uebe S, Radwan F, Tawamie H, Issa S, Shimazaki H, Henneke M, Ekici AB, Reis A, Abou Jamra R. Buchert R, et al. Among authors: tawamie h. Eur J Med Genet. 2013 Nov;56(11):599-602. doi: 10.1016/j.ejmg.2013.09.010. Epub 2013 Sep 28. Eur J Med Genet. 2013. PMID: 24080142

4

Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly.

Tawamie H, Martianov I, Wohlfahrt N, Buchert R, Mengus G, Uebe S, Janiri L, Hirsch FW, Schumacher J, Ferrazzi F, Sticht H, Reis A, Davidson I, Colombo R, Abou Jamra R. Tawamie H, et al. Am J Hum Genet. 2017 Mar 2;100(3):555-561. doi: 10.1016/j.ajhg.2017.01.032. Am J Hum Genet. 2017. PMID: 28257693 Free PMC article.

5

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.

Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nöthen MM, Bennett EP, Maeda Y, Aigner M, Reis A, Kinoshita T, Tommerup N, Baig SM, Abou Jamra R. Hansen L, et al. Among authors: tawamie h. Am J Hum Genet. 2013 Apr 4;92(4):575-83. doi: 10.1016/j.ajhg.2013.03.008. Am J Hum Genet. 2013. PMID: 23561846 Free PMC article.

6

Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.

Murakami Y, Tawamie H, Maeda Y, Büttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA. Murakami Y, et al. Among authors: tawamie h. PLoS Genet. 2014 May 1;10(5):e1004320. doi: 10.1371/journal.pgen.1004320. eCollection 2014 May. PLoS Genet. 2014. PMID: 24784135 Free PMC article.

7

Inhibition of RAS activation due to a homozygous ezrin variant in patients with profound intellectual disability.

Riecken LB, Tawamie H, Dornblut C, Buchert R, Ismayel A, Schulz A, Schumacher J, Sticht H, Pohl KJ, Cui Y, Reis A, Morrison H, Abou Jamra R. Riecken LB, et al. Among authors: tawamie h. Hum Mutat. 2015 Feb;36(2):270-8. doi: 10.1002/humu.22737. Hum Mutat. 2015. PMID: 25504542

8

Recurrent null mutation in SPG20 leads to Troyer syndrome.

Tawamie H, Wohlleber E, Uebe S, Schmäl C, Nöthen MM, Abou Jamra R. Tawamie H, et al. Mol Cell Probes. 2015 Oct;29(5):315-8. doi: 10.1016/j.mcp.2015.05.006. Epub 2015 May 20. Mol Cell Probes. 2015. PMID: 26003402

9

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss.

Buchert R, Nesbitt AI, Tawamie H, Krantz ID, Medne L, Helbig I, Matalon DR, Reis A, Santani A, Sticht H, Abou Jamra R. Buchert R, et al. Among authors: tawamie h. Orphanet J Rare Dis. 2016 Sep 29;11(1):130. doi: 10.1186/s13023-016-0509-9. Orphanet J Rare Dis. 2016. PMID: 27683084 Free PMC article.

10

Loss of function of SVBP leads to autosomal recessive intellectual disability, microcephaly, ataxia, and hypotonia.

Iqbal Z, Tawamie H, Ba W, Reis A, Halak BA, Sticht H, Uebe S, Kasri NN, Riazuddin S, van Bokhoven H, Abou Jamra R. Iqbal Z, et al. Among authors: tawamie h. Genet Med. 2019 Aug;21(8):1790-1796. doi: 10.1038/s41436-018-0415-8. Epub 2019 Jan 4. Genet Med. 2019. PMID: 30607023 Free article.

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