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A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Ben-Mahmoud A, Kishikawa S, Gupta V, Leach NT, Shen Y, Moldovan O, Goel H, Hopper B, Ranguin K, Gruchy N, Maas SM, Lacassie Y, Kim SH, Kim WY, Quade BJ, Morton CC, Kim CH, Layman LC, Kim HG. Ben-Mahmoud A, et al. Sci Rep. 2023 Aug 10;13(1):12984. doi: 10.1038/s41598-023-40037-4. Sci Rep. 2023. PMID: 37563198 Free PMC article.
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.
Ben-Mahmoud A, Jun KR, Gupta V, Shastri P, de la Fuente A, Park Y, Shin KC, Kim CA, da Cruz AD, Pinto IP, Minasi LB, Silva da Cruz A, Faivre L, Callier P, Racine C, Layman LC, Kong IK, Kim CH, Kim WY, Kim HG. Ben-Mahmoud A, et al. Front Mol Neurosci. 2022 Oct 6;15:979061. doi: 10.3389/fnmol.2022.979061. eCollection 2022. Front Mol Neurosci. 2022. PMID: 36277487 Free PMC article.
A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Ben-Mahmoud A, Kishikawa S, Gupta V, Leach NT, Shen Y, Moldovan O, Goel H, Hopper B, Ranguin K, Gruchy N, Maas SM, Lacassie Y, Kim SH, Kim WY, Quade BJ, Morton CC, Kim CH, Layman LC, Kim HG. Ben-Mahmoud A, et al. Res Sq [Preprint]. 2023 Mar 27:rs.3.rs-2572736. doi: 10.21203/rs.3.rs-2572736/v1. Res Sq. 2023. Update in: Sci Rep. 2023 Aug 10;13(1):12984. doi: 10.1038/s41598-023-40037-4 PMID: 37034680 Free PMC article. Updated. Preprint.
Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.
Ghasemi MR, Sadeghi H, Hashemi-Gorji F, Mirfakhraie R, Gupta V, Ben-Mahmoud A, Bagheri S, Razjouyan K, Salehpour S, Tonekaboni SH, Dianatpour M, Omrani D, Jang MH, Layman LC, Miryounesi M, Kim HG. Ghasemi MR, et al. Among authors: ben mahmoud a. BMC Med Genomics. 2024 Aug 5;17(1):196. doi: 10.1186/s12920-024-01969-6. BMC Med Genomics. 2024. PMID: 39103847 Free PMC article.
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
Ghasemi MR, Fateh ST, Ben-Mahmoud A, Gupta V, Stühn LG, Lesca G, Chatron N, Platzer K, Edery P, Sadeghi H, Isidor B, Cogné B, Schulz HL, Krauspe-Stübecke I, Periyasamy R, Nampoothiri S, Mirfakhraie R, Alijanpour S, Syrbe S, Pfeifer U, Spranger S, Grundmann-Hauser K, Haack TB, Papadopoulou MT, da Silva Gonçalves T, Panagiotakaki E, Arzimanoglou A, Tonekaboni SH, Rossi M, Korenke GC, Lacassie Y, Jang MH, Layman LC, Miryounesi M, Kim HG. Ghasemi MR, et al. Among authors: ben mahmoud a. Am J Med Genet A. 2024 Dec 20:e63963. doi: 10.1002/ajmg.a.63963. Online ahead of print. Am J Med Genet A. 2024. PMID: 39707601
Abdominal pseudohernia as an exceptional complication of herpes-zoster.
Atri S, Hammami M, Ben Mahmoud A, Sebai A, Maghrebi H, Kacem M. Atri S, et al. Among authors: ben mahmoud a. Int J Surg Case Rep. 2024 Jan;114:109191. doi: 10.1016/j.ijscr.2023.109191. Epub 2023 Dec 24. Int J Surg Case Rep. 2024. PMID: 38150997 Free PMC article.
43 results