Alawi M - Search Results

1

Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.

Harms FL, Nampoothiri S, Anazi S, Yesodharan D, Alawi M, Kutsche K, Alkuraya FS. Harms FL, et al. Among authors: alawi m. Am J Med Genet A. 2018 Feb;176(2):477-482. doi: 10.1002/ajmg.a.38568. Epub 2017 Dec 22. Am J Med Genet A. 2018. PMID: 29271567

2

An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.

Abdollahpour H, Alawi M, Kortüm F, Beckstette M, Seemanova E, Komárek V, Rosenberger G, Kutsche K. Abdollahpour H, et al. Among authors: alawi m. Eur J Hum Genet. 2015 Feb;23(2):256-9. doi: 10.1038/ejhg.2014.73. Epub 2014 Apr 30. Eur J Hum Genet. 2015. PMID: 24781758 Free PMC article.

3

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.

van Rahden VA, Fernandez-Vizarra E, Alawi M, Brand K, Fellmann F, Horn D, Zeviani M, Kutsche K. van Rahden VA, et al. Among authors: alawi m. Am J Hum Genet. 2015 Apr 2;96(4):640-50. doi: 10.1016/j.ajhg.2015.02.002. Epub 2015 Mar 12. Am J Hum Genet. 2015. PMID: 25772934 Free PMC article.

4

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

Kortüm F, Caputo V, Bauer CK, Stella L, Ciolfi A, Alawi M, Bocchinfuso G, Flex E, Paolacci S, Dentici ML, Grammatico P, Korenke GC, Leuzzi V, Mowat D, Nair LD, Nguyen TT, Thierry P, White SM, Dallapiccola B, Pizzuti A, Campeau PM, Tartaglia M, Kutsche K. Kortüm F, et al. Among authors: alawi m. Nat Genet. 2015 Jun;47(6):661-7. doi: 10.1038/ng.3282. Epub 2015 Apr 27. Nat Genet. 2015. PMID: 25915598

5

A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.

Girisha KM, Kortüm F, Shah H, Alawi M, Dalal A, Bhavani GS, Kutsche K. Girisha KM, et al. Among authors: alawi m. Eur J Hum Genet. 2016 Aug;24(8):1206-10. doi: 10.1038/ejhg.2015.261. Epub 2015 Dec 16. Eur J Hum Genet. 2016. PMID: 26669664 Free PMC article.

6

Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis.

Vogel M, Velleuer E, Schmidt-Jiménez LF, Mayatepek E, Borkhardt A, Alawi M, Kutsche K, Kortüm F. Vogel M, et al. Among authors: alawi m. Am J Med Genet A. 2016 Jul;170(7):1813-9. doi: 10.1002/ajmg.a.37682. Epub 2016 May 4. Am J Med Genet A. 2016. PMID: 27144914

7

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Bézieau S, Cogné B, Isidor B, Küry S, Lupski JR, Myers RM, Cooper GM, Kutsche K. Harms FL, et al. Among authors: alawi m. Am J Hum Genet. 2017 Jan 5;100(1):117-127. doi: 10.1016/j.ajhg.2016.11.012. Epub 2016 Dec 22. Am J Hum Genet. 2017. PMID: 28017373 Free PMC article.

8

Acute Liver Failure Meets SOPH Syndrome: A Case Report on an Intermediate Phenotype.

Kortüm F, Marquardt I, Alawi M, Korenke GC, Spranger S, Meinecke P, Kutsche K. Kortüm F, et al. Among authors: alawi m. Pediatrics. 2017 Jan;139(1):e20160550. doi: 10.1542/peds.2016-0550. Pediatrics. 2017. PMID: 28031453

9

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor.

Harms FL, Alawi M, Amor DJ, Tan TY, Cuturilo G, Lissewski C, Brinkmann J, Schanze D, Kutsche K, Zenker M. Harms FL, et al. Among authors: alawi m. Am J Med Genet A. 2018 Feb;176(2):470-476. doi: 10.1002/ajmg.a.38569. Epub 2017 Dec 22. Am J Med Genet A. 2018. PMID: 29271604

10

A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.

Piard J, Umanah GKE, Harms FL, Abalde-Atristain L, Amram D, Chang M, Chen R, Alawi M, Salpietro V, Rees MI, Chung SK, Houlden H, Verloes A, Dawson TM, Dawson VL, Van Maldergem L, Kutsche K. Piard J, et al. Among authors: alawi m. Brain. 2018 Mar 1;141(3):651-661. doi: 10.1093/brain/awx377. Brain. 2018. PMID: 29390050 Free PMC article.

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