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Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome.
Šedivá M, Laššuthová P, Zámečník J, Sedláčková L, Seeman P, Haberlová J. Šedivá M, et al. Eur J Med Genet. 2020 Jan;63(1):103619. doi: 10.1016/j.ejmg.2019.01.009. Epub 2019 Jan 25. Eur J Med Genet. 2020. PMID: 30690205
Birk Barel syndrome also known as KCNK9 imprinting syndrome is a rare developmental disorder associated with a loss-of-function variant in KCNK9, an imprinted gene with maternal expression on the 8th chromosome encoding the TASK3 (TWIK-related acidity inhibited K + -channe …
Birk Barel syndrome also known as KCNK9 imprinting syndrome is a rare developmental disorder associated with a loss-of-function varia …
Netrin-G2 dysfunction causes a Rett-like phenotype with areflexia.
Heimer G, van Woerden GM, Barel O, Marek-Yagel D, Kol N, Munting JB, Borghei M, Atawneh OM, Nissenkorn A, Rechavi G, Anikster Y, Elgersma Y, Kushner SA, Ben Zeev B. Heimer G, et al. Hum Mutat. 2020 Feb;41(2):476-486. doi: 10.1002/humu.23945. Epub 2019 Nov 15. Hum Mutat. 2020. PMID: 31692205
Somatic NRAS mutation in patient with generalized lymphatic anomaly.
Manevitz-Mendelson E, Leichner GS, Barel O, Davidi-Avrahami I, Ziv-Strasser L, Eyal E, Pessach I, Rimon U, Barzilai A, Hirshberg A, Chechekes K, Amariglio N, Rechavi G, Yaniv K, Greenberger S. Manevitz-Mendelson E, et al. Angiogenesis. 2018 May;21(2):287-298. doi: 10.1007/s10456-018-9595-8. Epub 2018 Feb 3. Angiogenesis. 2018. PMID: 29397482
Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.
Greenbaum L, Ben-David M, Nikitin V, Gera O, Barel O, Hersalis-Eldar A, Shamash J, Shimshoviz N, Reznik-Wolf H, Shohat M, Dominissini D, Pras E, Dori A. Greenbaum L, et al. Ann Clin Transl Neurol. 2021 Jun;8(6):1260-1268. doi: 10.1002/acn3.51362. Epub 2021 May 11. Ann Clin Transl Neurol. 2021. PMID: 33973728 Free PMC article.
OBJECTIVE: Mutations in the HSPB1 gene are associated with a distal hereditary motor neuropathy type 2 (dHMN2) or Charcot-Marie-Tooth disease type 2F (CMT2F), usually with autosomal dominant inheritance. ...
OBJECTIVE: Mutations in the HSPB1 gene are associated with a distal hereditary motor neuropathy type 2 (dHMN2) or Charcot-Marie-Tooth …