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Page 1
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Bestetti I, Crippa M, Sironi A, Tumiatti F, Masciadri M, Smeland MF, Naik S, Murch O, Bonati MT, Spano A, Cattaneo E, Mariani M, Gotta F, Crosti F, Cavalli P, Pantaleoni C, Natacci F, Bedeschi MF, Milani D, Maitz S, Selicorni A, Spaccini L, Peron A, Russo S, Larizza L, Low K, Finelli P. Bestetti I, et al. Among authors: spano a. Int J Mol Sci. 2022 May 25;23(11):5912. doi: 10.3390/ijms23115912. Int J Mol Sci. 2022. PMID: 35682590 Free PMC article.
The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.
Ostrowski PJ, Zachariou A, Loveday C, Beleza-Meireles A, Bertoli M, Dean J, Douglas AGL, Ellis I, Foster A, Graham JM, Hague J, Hilhorst-Hofstee Y, Hoffer M, Johnson D, Josifova D, Kant SG, Kini U, Lachlan K, Lam W, Lees M, Lynch S, Maitz S, McKee S, Metcalfe K, Nathanson K, Ockeloen CW, Parker MJ, Pierson TM, Rahikkala E, Sanchez-Lara PA, Spano A, Van Maldergem L, Cole T, Douzgou S, Tatton-Brown K. Ostrowski PJ, et al. Among authors: spano a. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):557-564. doi: 10.1002/ajmg.c.31749. Epub 2019 Nov 13. Am J Med Genet C Semin Med Genet. 2019. PMID: 31721432
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome.
Crippa M, Bestetti I, Maitz S, Weiss K, Spano A, Masciadri M, Smithson S, Larizza L, Low K, Cohen L, Finelli P. Crippa M, et al. Among authors: spano a. Front Neurol. 2020 Jul 24;11:631. doi: 10.3389/fneur.2020.00631. eCollection 2020. Front Neurol. 2020. PMID: 32793091 Free PMC article.
The Potential Synergic Effect of a Complex Pattern of Multiple Inherited Genetic Variants as a Pathogenic Factor for Ovarian Dysgenesis: A Case Report.
Cattoni A, Spano A, Tulone A, Boneschi A, Masera N, Maitz S, Di Blasio AM, Persani L, Guizzardi F, Rossetti R. Cattoni A, et al. Among authors: spano a. Front Endocrinol (Lausanne). 2020 Sep 25;11:540683. doi: 10.3389/fendo.2020.540683. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 33101191 Free PMC article.
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
Mellone S, Puricelli C, Vurchio D, Ronzani S, Favini S, Maruzzi A, Peruzzi C, Papa A, Spano A, Sirchia F, Mandrile G, Pelle A, Rasmini P, Vercellino F, Zonta A, Rabbone I, Dianzani U, Viri M, Giordano M. Mellone S, et al. Among authors: spano a. Front Genet. 2022 Aug 11;13:875182. doi: 10.3389/fgene.2022.875182. eCollection 2022. Front Genet. 2022. PMID: 36035117 Free PMC article.
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, Spano A, Gómez-Lozano I, Kumar A, Poke G, Phillips JA 3rd, Underhill HR, Gimenez G, Namba T, Robertson SP. Jones AG, et al. Among authors: spano a. Am J Hum Genet. 2024 Apr 4;111(4):729-741. doi: 10.1016/j.ajhg.2024.03.005. Am J Hum Genet. 2024. PMID: 38579670
A case of early-onset Parkinson's disease in a patient with KBG syndrome.
Magistrelli L, Contaldi E, Caushi F, Spano A, Cantello R, D'Alfonso S, Corrado L. Magistrelli L, et al. Among authors: spano a. Neurol Sci. 2023 Dec;44(12):4537-4539. doi: 10.1007/s10072-023-06988-2. Epub 2023 Aug 4. Neurol Sci. 2023. PMID: 37540342 No abstract available.
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Stegmann JD, et al. Among authors: spano a. NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9. NPJ Genom Med. 2024. PMID: 38429302 Free PMC article.
217 results