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Page 1
Loeys-Dietz syndrome in pregnancy.
Thomas KE, Hogan J, Pitcher A, Mackillop L, Blair E, Frise CJ. Thomas KE, et al. Among authors: blair e. Obstet Med. 2021 Mar;14(1):42-45. doi: 10.1177/1753495X19852819. Epub 2019 Jun 15. Obstet Med. 2021. PMID: 33995573 Free PMC article.
A clinical scoring system for congenital contractural arachnodactyly.
Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B. Meerschaut I, et al. Among authors: blair em. Genet Med. 2020 Jan;22(1):124-131. doi: 10.1038/s41436-019-0609-8. Epub 2019 Jul 18. Genet Med. 2020. PMID: 31316167 Free article.
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
Schepers D, Doyle AJ, Oswald G, Sparks E, Myers L, Willems PJ, Mansour S, Simpson MA, Frysira H, Maat-Kievit A, Van Minkelen R, Hoogeboom JM, Mortier GR, Titheradge H, Brueton L, Starr L, Stark Z, Ockeloen C, Lourenco CM, Blair E, Hobson E, Hurst J, Maystadt I, Destrée A, Girisha KM, Miller M, Dietz HC, Loeys B, Van Laer L. Schepers D, et al. Among authors: blair e. Eur J Hum Genet. 2015 Feb;23(2):224-8. doi: 10.1038/ejhg.2014.61. Epub 2014 Apr 16. Eur J Hum Genet. 2015. PMID: 24736733 Free PMC article.
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study; Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Among authors: blair e. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Musante L, Faletra F, Meier K, Tomoum H, Najarzadeh Torbati P, Blair E, North S, Gärtner J, Diegmann S, Beiraghi Toosi M, Ashrafzadeh F, Ghayoor Karimiani E, Murphy D, Murru FM, Zanus C, Magnolato A, La Bianca M, Feresin A, Girotto G, Gasparini P, Costa P, Carrozzi M. Musante L, et al. Among authors: blair e. Am J Med Genet A. 2022 Sep;188(9):2652-2665. doi: 10.1002/ajmg.a.62852. Epub 2022 Jun 7. Am J Med Genet A. 2022. PMID: 35670379 Free PMC article.
675 results