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Page 1
Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.
Yan D, Tekin D, Bademci G, Foster J 2nd, Cengiz FB, Kannan-Sundhari A, Guo S, Mittal R, Zou B, Grati M, Kabahuma RI, Kameswaran M, Lasisi TJ, Adedeji WA, Lasisi AO, Menendez I, Herrera M, Carranza C, Maroofian R, Crosby AH, Bensaid M, Masmoudi S, Behnam M, Mojarrad M, Feng Y, Duman D, Mawla AM, Nord AS, Blanton SH, Liu XZ, Tekin M. Yan D, et al. Among authors: behnam m. Hum Genet. 2016 Aug;135(8):953-61. doi: 10.1007/s00439-016-1697-z. Epub 2016 Jun 25. Hum Genet. 2016. PMID: 27344577 Free PMC article.
Association of AHSG with alopecia and mental retardation (APMR) syndrome.
Reza Sailani M, Jahanbani F, Nasiri J, Behnam M, Salehi M, Sedghi M, Hoseinzadeh M, Takahashi S, Zia A, Gruber J, Lynch JL, Lam D, Winkelmann J, Amirkiai S, Pang B, Rego S, Mazroui S, Bernstein JA, Snyder MP. Reza Sailani M, et al. Among authors: behnam m. Hum Genet. 2017 Mar;136(3):287-296. doi: 10.1007/s00439-016-1756-5. Epub 2017 Jan 4. Hum Genet. 2017. PMID: 28054173
Novel EYA1 variants causing Branchio-oto-renal syndrome.
Klingbeil KD, Greenland CM, Arslan S, Llamos Paneque A, Gurkan H, Demir Ulusal S, Maroofian R, Carrera-Gonzalez A, Montufar-Armendariz S, Paredes R, Elcioglu N, Menendez I, Behnam M, Foster J 2nd, Guo S, Escarfuller S, Cengiz FB, Duman D, Bademci G, Tekin M. Klingbeil KD, et al. Among authors: behnam m. Int J Pediatr Otorhinolaryngol. 2017 Jul;98:59-63. doi: 10.1016/j.ijporl.2017.04.037. Epub 2017 Apr 26. Int J Pediatr Otorhinolaryngol. 2017. PMID: 28583505 Free PMC article.
A homozygous NOP14 variant is likely to cause recurrent pregnancy loss.
Suzuki T, Behnam M, Ronasian F, Salehi M, Shiina M, Koshimizu E, Fujita A, Sekiguchi F, Miyatake S, Mizuguchi T, Nakashima M, Ogata K, Takeda S, Matsumoto N, Miyake N. Suzuki T, et al. Among authors: behnam m. J Hum Genet. 2018 Apr;63(4):425-430. doi: 10.1038/s10038-018-0410-6. Epub 2018 Feb 13. J Hum Genet. 2018. PMID: 29440706
Further supporting evidence for REEP1 phenotypic and allelic heterogeneity.
Maroofian R, Behnam M, Kaiyrzhanov R, Salpietro V, Salehi M, Houlden H. Maroofian R, et al. Among authors: behnam m. Neurol Genet. 2019 Nov 15;5(6):e379. doi: 10.1212/NXG.0000000000000379. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 31872057 Free PMC article. No abstract available.
Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.
Sakamoto M, Iwama K, Sekiguchi F, Mashimo H, Kumada S, Ishigaki K, Okamoto N, Behnam M, Ghadami M, Koshimizu E, Miyatake S, Mitsuhashi S, Mizuguchi T, Takata A, Saitsu H, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: behnam m. J Hum Genet. 2021 Apr;66(4):401-407. doi: 10.1038/s10038-020-00853-2. Epub 2020 Oct 10. J Hum Genet. 2021. PMID: 33040083
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Ansari M, Poke G, Ferry Q, Williamson K, Aldridge R, Meynert AM, Bengani H, Chan CY, Kayserili H, Avci S, Hennekam RC, Lampe AK, Redeker E, Homfray T, Ross A, Falkenberg Smeland M, Mansour S, Parker MJ, Cook JA, Splitt M, Fisher RB, Fryer A, Magee AC, Wilkie A, Barnicoat A, Brady AF, Cooper NS, Mercer C, Deshpande C, Bennett CP, Pilz DT, Ruddy D, Cilliers D, Johnson DS, Josifova D, Rosser E, Thompson EM, Wakeling E, Kinning E, Stewart F, Flinter F, Girisha KM, Cox H, Firth HV, Kingston H, Wee JS, Hurst JA, Clayton-Smith J, Tolmie J, Vogt J, Tatton-Brown K, Chandler K, Prescott K, Wilson L, Behnam M, McEntagart M, Davidson R, Lynch SA, Sisodiya S, Mehta SG, McKee SA, Mohammed S, Holden S, Park SM, Holder SE, Harrison V, McConnell V, Lam WK, Green AJ, Donnai D, Bitner-Glindzicz M, Donnelly DE, Nellåker C, Taylor MS, FitzPatrick DR. Ansari M, et al. Among authors: behnam m. J Med Genet. 2014 Oct;51(10):659-68. doi: 10.1136/jmedgenet-2014-102573. Epub 2014 Aug 14. J Med Genet. 2014. PMID: 25125236 Free PMC article.
100 results