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Page 1
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Gazdagh G, Hunt D, Gonzalez AMC, Rodriguez MP, Chaudhry A, Madruga M, Vansenne F, Shears D, Curie A, Stattin EL, Anderlid BM, Trajkova S, Angelovska ES, McWilliam C, Wyatt PR, O'Driscoll M, Atton G, Bergman AK, Zacher P, Mewasingh LD, López AG, Alonso-Luengo O, Wai HA, Rohde O, Boiroux P, Debant A, Schmidt S, Baralle D. Gazdagh G, et al. Among authors: anderlid bm. Am J Med Genet A. 2023 Jul;191(7):1722-1740. doi: 10.1002/ajmg.a.63194. Epub 2023 Mar 29. Am J Med Genet A. 2023. PMID: 36987741 Review.
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm.
Lindsay ME, Schepers D, Bolar NA, Doyle JJ, Gallo E, Fert-Bober J, Kempers MJ, Fishman EK, Chen Y, Myers L, Bjeda D, Oswald G, Elias AF, Levy HP, Anderlid BM, Yang MH, Bongers EM, Timmermans J, Braverman AC, Canham N, Mortier GR, Brunner HG, Byers PH, Van Eyk J, Van Laer L, Dietz HC, Loeys BL. Lindsay ME, et al. Among authors: anderlid bm. Nat Genet. 2012 Jul 8;44(8):922-7. doi: 10.1038/ng.2349. Nat Genet. 2012. PMID: 22772368 Free PMC article.
The Roots of Autism and ADHD Twin Study in Sweden (RATSS).
Bölte S, Willfors C, Berggren S, Norberg J, Poltrago L, Mevel K, Coco C, Fransson P, Borg J, Sitnikov R, Toro R, Tammimies K, Anderlid BM, Nordgren A, Falk A, Meyer U, Kere J, Landén M, Dalman C, Ronald A, Anckarsäter H, Lichtenstein P. Bölte S, et al. Among authors: anderlid bm. Twin Res Hum Genet. 2014 Jun;17(3):164-76. doi: 10.1017/thg.2014.12. Epub 2014 Apr 15. Twin Res Hum Genet. 2014. PMID: 24735654
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Nilsson D, Pettersson M, Gustavsson P, Förster A, Hofmeister W, Wincent J, Zachariadis V, Anderlid BM, Nordgren A, Mäkitie O, Wirta V, Käller M, Vezzi F, Lupski JR, Nordenskjöld M, Lundberg ES, Carvalho CMB, Lindstrand A. Nilsson D, et al. Among authors: anderlid bm. Hum Mutat. 2017 Feb;38(2):180-192. doi: 10.1002/humu.23146. Epub 2016 Dec 5. Hum Mutat. 2017. PMID: 27862604 Free PMC article.
X-linked Malformation and Cochlear Implantation.
Smeds H, Wales J, Asp F, Löfkvist U, Falahat B, Anderlid BM, Anmyr L, Karltorp E. Smeds H, et al. Among authors: anderlid bm. Otol Neurotol. 2017 Jan;38(1):38-46. doi: 10.1097/MAO.0000000000001253. Otol Neurotol. 2017. PMID: 27779564
Minor physical anomalies in neurodevelopmental disorders: a twin study.
Myers L, Anderlid BM, Nordgren A, Willfors C, Kuja-Halkola R, Tammimies K, Bölte S. Myers L, et al. Among authors: anderlid bm. Child Adolesc Psychiatry Ment Health. 2017 Nov 28;11:57. doi: 10.1186/s13034-017-0195-y. eCollection 2017. Child Adolesc Psychiatry Ment Health. 2017. PMID: 29209412 Free PMC article.
Deficiency of the Heterogeneous Nuclear Ribonucleoprotein U locus leads to delayed hindbrain neurogenesis.
Mastropasqua F, Oksanen M, Soldini C, Alatar S, Arora A, Ballarino R, Molinari M, Agostini F, Poulet A, Watts M, Rabkina I, Becker M, Li D, Anderlid BM, Isaksson J, Lundin Remnelius K, Moslem M, Jacob Y, Falk A, Crosetto N, Bienko M, Santini E, Borgkvist A, Bölte S, Tammimies K. Mastropasqua F, et al. Among authors: anderlid bm. Biol Open. 2023 Oct 15;12(10):bio060113. doi: 10.1242/bio.060113. Epub 2023 Oct 10. Biol Open. 2023. PMID: 37815090 Free PMC article.
Presynaptic dysfunction in CASK-related neurodevelopmental disorders.
Becker M, Mastropasqua F, Reising JP, Maier S, Ho ML, Rabkina I, Li D, Neufeld J, Ballenberger L, Myers L, Moritz V, Kele M, Wincent J, Willfors C, Sitnikov R, Herlenius E, Anderlid BM, Falk A, Bölte S, Tammimies K. Becker M, et al. Among authors: anderlid bm. Transl Psychiatry. 2020 Sep 14;10(1):312. doi: 10.1038/s41398-020-00994-0. Transl Psychiatry. 2020. PMID: 32929080 Free PMC article.
118 results