Rafi SK - Search Results

1

Double supernumerary isodicentric chromosomes derived from 15 resulting in partial hexasomy.

Qumsiyeh MB, Rafi SK, Sarri C, Grigoriadou M, Gyftodimou J, Pandelia E, Laskari H, Petersen MB. Qumsiyeh MB, et al. Among authors: rafi sk. Am J Med Genet A. 2003 Feb 1;116A(4):356-9. doi: 10.1002/ajmg.a.10050. Am J Med Genet A. 2003. PMID: 12522791

2

ETV6/CBFA2 fusions in childhood B-cell precursor acute lymphoblastic leukemia with myeloid markers.

Rafi SK, El Gebaly H, Qumsiyeh MB. Rafi SK, et al. Diagn Mol Pathol. 2000 Dec;9(4):184-9. doi: 10.1097/00019606-200012000-00002. Diagn Mol Pathol. 2000. PMID: 11129441

3

Effects of hyperoxia and caffeine on the expression of fragile site at Xq27.3.

Rafi SK, Surana RB, Anderson LH, Wilson B, Christopher KL, Mehm WJ. Rafi SK, et al. Am J Med Genet. 1996 Feb 2;61(4):299-303. doi: 10.1002/(SICI)1096-8628(19960202)61:4<299::AID-AJMG1>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8834039

4

Constitutional heteromorphism of 9q13 --> q21 in a patient with chronic myelogenous leukemia.

Surana RB, Rafi SK, Christopher KL, Reid TJ, Weiss RB. Surana RB, et al. Among authors: rafi sk. Clin Genet. 1995 Jun;47(6):321-3. doi: 10.1111/j.1399-0004.1995.tb03973.x. Clin Genet. 1995. PMID: 7554367

5

Mowat-Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions.

St Peter C, Hossain WA, Lovell S, Rafi SK, Butler MG. St Peter C, et al. Among authors: rafi sk. Int J Mol Sci. 2024 Feb 29;25(5):2838. doi: 10.3390/ijms25052838. Int J Mol Sci. 2024. PMID: 38474085 Free PMC article. Review.

6

Anti-epileptic drug topiramate upregulates TGFβ1 and SOX9 expression in primary embryonic palatal mesenchyme cells: Implications for teratogenicity.

Rafi SK, Goering JP, Olm-Shipman AJ, Hipp LA, Ernst NJ, Wilson NR, Hall EG, Gunewardena S, Saadi I. Rafi SK, et al. PLoS One. 2021 Feb 12;16(2):e0246989. doi: 10.1371/journal.pone.0246989. eCollection 2021. PLoS One. 2021. PMID: 33577554 Free PMC article.

7

The 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Phenotypes.

Rafi SK, Butler MG. Rafi SK, et al. Int J Mol Sci. 2020 May 6;21(9):3296. doi: 10.3390/ijms21093296. Int J Mol Sci. 2020. PMID: 32384786 Free PMC article. Review.

8

High Functioning Autism with Missense Mutations in Synaptotagmin-Like Protein 4 (SYTL4) and Transmembrane Protein 187 (TMEM187) Genes: SYTL4- Protein Modeling, Protein-Protein Interaction, Expression Profiling and MicroRNA Studies.

Rafi SK, Fernández-Jaén A, Álvarez S, Nadeau OW, Butler MG. Rafi SK, et al. Int J Mol Sci. 2019 Jul 9;20(13):3358. doi: 10.3390/ijms20133358. Int J Mol Sci. 2019. PMID: 31323913 Free PMC article.

9

Morphometric Analysis of Recognized Genes for Autism Spectrum Disorders and Obesity in Relationship to the Distribution of Protein-Coding Genes on Human Chromosomes.

McGuire AB, Rafi SK, Manzardo AM, Butler MG. McGuire AB, et al. Among authors: rafi sk. Int J Mol Sci. 2016 May 5;17(5):673. doi: 10.3390/ijms17050673. Int J Mol Sci. 2016. PMID: 27164088 Free PMC article.

10

Currently recognized clinically relevant and known genes for human reproduction and related infertility with representation on high-resolution chromosome ideograms.

Butler MG, Rafi SK, McGuire A, Manzardo AM. Butler MG, et al. Among authors: rafi sk. Gene. 2016 Jan 1;575(1):149-59. doi: 10.1016/j.gene.2015.08.057. Epub 2015 Sep 2. Gene. 2016. PMID: 26341055 Free PMC article. Review.

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