El-Shanti H - Search Results

1

Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome.

Kambouris M, Maroun RC, Ben-Omran T, Al-Sarraj Y, Errafii K, Ali R, Boulos H, Curmi PA, El-Shanti H. Kambouris M, et al. Orphanet J Rare Dis. 2014 Jun 7;9:80. doi: 10.1186/1750-1172-9-80. Orphanet J Rare Dis. 2014. PMID: 24907849 Free PMC article.

2

Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.

Hadj-Rabia S, Brideau G, Al-Sarraj Y, Maroun RC, Figueres ML, Leclerc-Mercier S, Olinger E, Baron S, Chaussain C, Nochy D, Taha RZ, Knebelmann B, Joshi V, Curmi PA, Kambouris M, Vargas-Poussou R, Bodemer C, Devuyst O, Houillier P, El-Shanti H. Hadj-Rabia S, et al. Among authors: el shanti h. Genet Med. 2018 Feb;20(2):190-201. doi: 10.1038/gim.2017.71. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771254 Free article.

3

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

Kambouris M, Thevenon J, Soldatos A, Cox A, Stephen J, Ben-Omran T, Al-Sarraj Y, Boulos H, Bone W, Mullikin JC; NISC Comparative Sequencing Program; Masurel-Paulet A, St-Onge J, Dufford Y, Chantegret C, Thauvin-Robinet C, Al-Alami J, Faivre L, Riviere JB, Gahl WA, Bassuk AG, Malicdan MC, El-Shanti H. Kambouris M, et al. Ann Clin Transl Neurol. 2016 Dec 20;4(1):26-35. doi: 10.1002/acn3.372. eCollection 2017 Jan. Ann Clin Transl Neurol. 2016. PMID: 28078312 Free PMC article.

4

A chromosomal microdeletion of 15q in a female patient with epilepsy, ID, and autism spectrum disorder: a case report.

Ahram DF, Al-Sarraj Y, Taha RZ, Elhag SF, Al-Shaban FA, El-Shanti H, Kambouris M. Ahram DF, et al. Among authors: el shanti h. Clin Case Rep. 2017 May 12;5(6):1013-1017. doi: 10.1002/ccr3.945. eCollection 2017 Jun. Clin Case Rep. 2017. PMID: 28588858 Free PMC article.

5

Mosaic partial pericentromeric trisomy 8 and maternal uniparental disomy in a male patient with autism spectrum disorder.

Ahram DF, Stambouli D, Syrogianni A, Al-Sarraj Y, Gerou S, El-Shanti H, Kambouris M. Ahram DF, et al. Clin Case Rep. 2016 Oct 21;4(12):1125-1131. doi: 10.1002/ccr3.705. eCollection 2016 Dec. Clin Case Rep. 2016. PMID: 27980747 Free PMC article.

6

A novel de novo PSTPIP1 mutation in a boy with pyogenic arthritis, pyoderma gangrenosum, acne (PAPA) syndrome.

Fathalla BM, Al-Wahadneh AM, Al-Mutawa M, Kambouris M, El-Shanti H. Fathalla BM, et al. Clin Exp Rheumatol. 2014 Nov-Dec;32(6):956-8. Epub 2014 Jun 24. Clin Exp Rheumatol. 2014. PMID: 24960411

7

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Rehman AU, Najafi M, Kambouris M, Al-Gazali L, Makrythanasis P, Rad A, Maroofian R, Rajab A, Stark Z, Hunter JV, Bakey Z, Tokita MJ, He W, Vetrini F, Petersen A, Santoni FA, Hamamy H, Wu K, Al-Jasmi F, Helmstädter M, Arnold SJ, Xia F, Richmond C, Liu P, Karimiani EG, Karami Madani G, Lunke S, El-Shanti H, Eng CM, Antonarakis SE, Hertecant J, Walkiewicz M, Yang Y, Schmidts M. Rehman AU, et al. Among authors: el shanti h. Hum Mutat. 2019 Mar;40(3):267-280. doi: 10.1002/humu.23694. Epub 2018 Dec 25. Hum Mutat. 2019. PMID: 30520571 Free PMC article.

8

Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 - qter, autism spectrum disorder and unusual features.

Al-Sarraj Y, Al-Khair HA, Taha RZ, Khattab N, El Sayed ZH, Elhusein B, El-Shanti H. Al-Sarraj Y, et al. Clin Case Rep. 2014 Oct;2(5):201-5. doi: 10.1002/ccr3.94. Epub 2014 Jul 25. Clin Case Rep. 2014. PMID: 25614812 Free PMC article.

9

Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis.

Lepelletier C, Al-Sarraj Y, Bodemer C, Shaath H, Fraitag S, Kambouris M, Hamel-Teillac D, El Shanti H, Hadj-Rabia S. Lepelletier C, et al. Acta Derm Venereol. 2017 Jul 6;97(7):858-859. doi: 10.2340/00015555-2671. Acta Derm Venereol. 2017. PMID: 28417142 Free article. No abstract available.

10

Family-Based Genome-Wide Association Study of Autism Spectrum Disorder in Middle Eastern Families.

Al-Sarraj Y, Al-Dous E, Taha RZ, Ahram D, Alshaban F, Tolfat M, El-Shanti H, Albagha OME. Al-Sarraj Y, et al. Among authors: el shanti h. Genes (Basel). 2021 May 18;12(5):761. doi: 10.3390/genes12050761. Genes (Basel). 2021. PMID: 34069769 Free PMC article.

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