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Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J, Signer R, Torring PM, Engelund MB, Gripp KW, Amlie-Wolf L, Henderson LB, Midro AT, Tarasów E, Stasiewicz-Jarocka B, Moskal-Jasinska D, Vos P, Boschann F, Stoltenburg C, Puk O, Mero IL, Lossius K, Mignot C, Keren B, Acosta Guio JC, Briceño I, Gomez A, Yang Y, Stankiewicz P. Glinton KE, et al. Among authors: midro at. Am J Med Genet A. 2021 May;185(5):1366-1378. doi: 10.1002/ajmg.a.62102. Epub 2021 Jan 31. Am J Med Genet A. 2021. PMID: 33522091 Free PMC article.
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome.
Midro AT, Tommerup N, Borys J, Panasiuk B, Kosztyła-Hojna B, Zalewska R, Konstantynowicz J, Łebkowska U, Cooper L, Scherer SE, Mehrjouy MM, Liu Q, Skowroński R, Stankiewicz P. Midro AT, et al. Clin Genet. 2019 Apr;95(4):534-536. doi: 10.1111/cge.13490. Epub 2019 Jan 11. Clin Genet. 2019. PMID: 30633344 No abstract available.
Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome.
Midro AT, Panasiuk B, Tümer Z, Stankiewicz P, Silahtaroglu A, Lupski JR, Zemanova Z, Stasiewicz-Jarocka B, Hubert E, Tarasów E, Famulski W, Zadrozna-Tołwińska B, Wasilewska E, Kirchhoff M, Kalscheuer V, Michalova K, Tommerup N. Midro AT, et al. Am J Med Genet A. 2004 Jan 15;124A(2):179-91. doi: 10.1002/ajmg.a.20367. Am J Med Genet A. 2004. PMID: 14699618 Review.
A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.
Midro AT, Stasiewicz-Jarocka B, Borys J, Kozłowski K, Skotnicka B, Tarasów E, Hubert E, Konstantynowicz J, Panasiuk B, Rydzanicz M, Pollak A, Stawiński P, Skowroński R, Płoski R. Midro AT, et al. Am J Med Genet A. 2018 Nov;176(11):2382-2388. doi: 10.1002/ajmg.a.40431. Epub 2018 Oct 17. Am J Med Genet A. 2018. PMID: 30329210
Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter.
Iwanowski PS, Panasiuk B, Van Buggenhout G, Murdolo M, Myśliwiec M, Maas NM, Lattante S, Korniszewski L, Posmyk R, Pilch J, Zajączek S, Fryns JP, Zollino M, Midro AT. Iwanowski PS, et al. Among authors: midro at. Am J Med Genet A. 2011 Aug;155A(8):1833-47. doi: 10.1002/ajmg.a.34005. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744486
104 results