Al-Yafee Y - Search Results

1

Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.

Faqeih EA, Al-Owain M, Colak D, Kenana R, Al-Yafee Y, Al-Dosary M, Al-Saman A, Albalawi F, Al-Sarar D, Domiaty D, Daghestani M, Kaya N. Faqeih EA, et al. Among authors: al yafee y. Am J Med Genet A. 2014 Jun;164A(6):1565-70. doi: 10.1002/ajmg.a.36482. Epub 2014 Mar 25. Am J Med Genet A. 2014. PMID: 24668509

2

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.

Al-Sayed MD, Al-Zaidan H, Albakheet A, Hakami H, Kenana R, Al-Yafee Y, Al-Dosary M, Qari A, Al-Sheddi T, Al-Muheiza M, Al-Qubbaj W, Lakmache Y, Al-Hindi H, Ghaziuddin M, Colak D, Kaya N. Al-Sayed MD, et al. Among authors: al yafee y. Am J Hum Genet. 2013 Oct 3;93(4):721-6. doi: 10.1016/j.ajhg.2013.08.001. Epub 2013 Sep 26. Am J Hum Genet. 2013. PMID: 24075186 Free PMC article.

3

A missense mutation in the CRBN gene that segregates with intellectual disability and self-mutilating behaviour in a consanguineous Saudi family.

Sheereen A, Alaamery M, Bawazeer S, Al Yafee Y, Massadeh S, Eyaid W. Sheereen A, et al. Among authors: al yafee y. J Med Genet. 2017 Apr;54(4):236-240. doi: 10.1136/jmedgenet-2016-104117. Epub 2017 Jan 31. J Med Genet. 2017. PMID: 28143899 Free PMC article.

4

Preparation of anastrozole loaded PEG-PLA nanoparticles: evaluation of apoptotic response of breast cancer cell lines.

Alyafee YA, Alaamery M, Bawazeer S, Almutairi MS, Alghamdi B, Alomran N, Sheereen A, Daghestani M, Massadeh S. Alyafee YA, et al. Int J Nanomedicine. 2017 Dec 28;13:199-208. doi: 10.2147/IJN.S151139. eCollection 2018. Int J Nanomedicine. 2017. PMID: 29343958 Free PMC article.

5

First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient.

Alsagob M, Salih MA, Hamad MHA, Al-Yafee Y, Al-Zahrani J, Al-Bakheet A, Nester M, Sakati N, Wakil SM, AlOdaib A, Colak D, Kaya N. Alsagob M, et al. Among authors: al yafee y. Mol Cytogenet. 2019 May 18;12:21. doi: 10.1186/s13039-019-0432-6. eCollection 2019. Mol Cytogenet. 2019. PMID: 31131027 Free PMC article.

6

EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.

Umair M, Ballow M, Asiri A, Alyafee Y, Al Tuwaijri A, Alhamoudi KM, Aloraini T, Abdelhakim M, Althagafi AT, Kafkas S, Alsubaie L, Alrifai MT, Hoehndorf R, Alfares A, Alfadhel M. Umair M, et al. Clin Genet. 2020 Dec;98(6):555-561. doi: 10.1111/cge.13842. Epub 2020 Sep 15. Clin Genet. 2020. PMID: 32869858 Free PMC article.

7

Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations.

Alfadhel M, Umair M, Almuzzaini B, Asiri A, Al Tuwaijri A, Alhamoudi K, Alyafee Y, Al-Owain M. Alfadhel M, et al. Mol Syndromol. 2021 Jun;12(3):133-140. doi: 10.1159/000513829. Epub 2021 May 11. Mol Syndromol. 2021. PMID: 34177428 Free PMC article.

8

Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay.

Asiri A, Aloyouni E, Umair M, Alyafee Y, Al Tuwaijri A, Alhamoudi KM, Almuzzaini B, Al Baz A, Alwadaani D, Nashabat M, Alfadhel M. Asiri A, et al. Ann Clin Transl Neurol. 2020 Jun;7(6):956-964. doi: 10.1002/acn3.51059. Epub 2020 May 19. Ann Clin Transl Neurol. 2020. PMID: 32431071 Free PMC article.

9

Non-invasive prenatal testing for autosomal recessive disorders: A new promising approach.

Alyafee Y, Al Tuwaijri A, Umair M, Alharbi M, Haddad S, Ballow M, Alayyar L, Alam Q, Althenayyan S, Al Ghilan N, Al Khaldi A, Faden MS, Al Sufyan H, Alfadhel M. Alyafee Y, et al. Front Genet. 2022 Nov 3;13:1047474. doi: 10.3389/fgene.2022.1047474. eCollection 2022. Front Genet. 2022. PMID: 36406136 Free PMC article.

10

A Missense Mutation in the UGDH Gene Is Associated With Developmental Delay and Axial Hypotonia.

Alhamoudi KM, Bhat J, Nashabat M, Alharbi M, Alyafee Y, Asiri A, Umair M, Alfadhel M. Alhamoudi KM, et al. Front Pediatr. 2020 Feb 27;8:71. doi: 10.3389/fped.2020.00071. eCollection 2020. Front Pediatr. 2020. PMID: 32175296 Free PMC article.

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