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Page 1
Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.
Balestrini S, Mikati MA, Álvarez-García-Rovés R, Carboni M, Hunanyan AS, Kherallah B, McLean M, Prange L, De Grandis E, Gagliardi A, Pisciotta L, Stagnaro M, Veneselli E, Campistol J, Fons C, Pias-Peleteiro L, Brashear A, Miller C, Samões R, Brankovic V, Padiath QS, Potic A, Pilch J, Vezyroglou A, Bye AME, Davis AM, Ryan MM, Semsarian C, Hollingsworth G, Scheffer IE, Granata T, Nardocci N, Ragona F, Arzimanoglou A, Panagiotakaki E, Carrilho I, Zucca C, Novy J, Dzieżyc K, Parowicz M, Mazurkiewicz-Bełdzińska M, Weckhuysen S, Pons R, Groppa S, Sinden DS, Pitt GS, Tinker A, Ashworth M, Michalak Z, Thom M, Cross JH, Vavassori R, Kaski JP, Sisodiya SM. Balestrini S, et al. Among authors: pilch j. Neurology. 2020 Nov 24;95(21):e2866-e2879. doi: 10.1212/WNL.0000000000010794. Epub 2020 Sep 10. Neurology. 2020. PMID: 32913013 Free PMC article.
Nusinersen treatment of Spinal Muscular Atrophy Type 1 - results of expanded access programme in Poland.
Modrzejewska S, Kotulska K, Kopyta I, Grędowska E, Emich-Widera E, Tomaszek K, Paprocka J, Chmielewski D, Pilch J, Pietruszewski J, Lemska A, Zawadzka M, Mazurkiewicz-Bełdzińska M. Modrzejewska S, et al. Among authors: pilch j. Neurol Neurochir Pol. 2021;55(3):289-294. doi: 10.5603/PJNNS.a2021.0020. Epub 2021 Feb 10. Neurol Neurochir Pol. 2021. PMID: 33565602 Free article.
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Giunta C, Baumann M, Fauth C, Lindert U, Abdalla EM, Brady AF, Collins J, Dastgir J, Donkervoort S, Ghali N, Johnson DS, Kariminejad A, Koch J, Kraenzlin M, Lahiri N, Lozic B, Manzur AY, Morton JEV, Pilch J, Pollitt RC, Schreiber G, Shannon NL, Sobey G, Vandersteen A, van Dijk FS, Witsch-Baumgartner M, Zschocke J, Pope FM, Bönnemann CG, Rohrbach M. Giunta C, et al. Among authors: pilch j. Genet Med. 2018 Jan;20(1):42-54. doi: 10.1038/gim.2017.70. Epub 2017 Jun 15. Genet Med. 2018. PMID: 28617417 Free PMC article.
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.
Maas SM, Shaw AC, Bikker H, Lüdecke HJ, van der Tuin K, Badura-Stronka M, Belligni E, Biamino E, Bonati MT, Carvalho DR, Cobben J, de Man SA, Den Hollander NS, Di Donato N, Garavelli L, Grønborg S, Herkert JC, Hoogeboom AJ, Jamsheer A, Latos-Bielenska A, Maat-Kievit A, Magnani C, Marcelis C, Mathijssen IB, Nielsen M, Otten E, Ousager LB, Pilch J, Plomp A, Poke G, Poluha A, Posmyk R, Rieubland C, Silengo M, Simon M, Steichen E, Stumpel C, Szakszon K, Polonkai E, van den Ende J, van der Steen A, van Essen T, van Haeringen A, van Hagen JM, Verheij JB, Mannens MM, Hennekam RC. Maas SM, et al. Among authors: pilch j. Eur J Med Genet. 2015 May;58(5):279-92. doi: 10.1016/j.ejmg.2015.03.002. Epub 2015 Mar 16. Eur J Med Genet. 2015. PMID: 25792522
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
Jenkins ZA, Macharg A, Chang CY, van Kogelenberg M, Morgan T, Frentz S, Wei W, Pilch J, Hannibal M, Foulds N, McGillivray G, Leventer RJ, García-Miñaúr S, Sugito S, Nightingale S, Markie DM, Dudding T, Kapur RP, Robertson SP. Jenkins ZA, et al. Among authors: pilch j. Hum Mutat. 2018 Jan;39(1):103-113. doi: 10.1002/humu.23355. Epub 2017 Nov 2. Hum Mutat. 2018. PMID: 29024177
No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction.
Piekutowska-Abramczuk D, Kocyła-Karczmarewicz B, Małkowska M, Łuczak S, Iwanicka-Pronicka K, Siegmund S, Yang H, Wen Q, Hoang QV, Silverman RH, Kowalski P, Szczypińska O, Czornak K, Zimowski J, Płoski R, Pilch J, Ciara E, Zaremba J, Krajewska-Walasek M, Schon EA, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: pilch j. JIMD Rep. 2016;27:63-8. doi: 10.1007/8904_2015_468. Epub 2015 Oct 2. JIMD Rep. 2016. PMID: 26427993 Free PMC article.
Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18.
Stankiewicz P, Brozek I, Hélias-Rodzewicz Z, Wierzba J, Pilch J, Bocian E, Balcerska A, Wozniak A, Kardaś I, Wirth J, Mazurczak T, Limon J. Stankiewicz P, et al. Among authors: pilch j. Am J Med Genet. 2001 Jul 1;101(3):226-39. doi: 10.1002/1096-8628(20010701)101:3<226::aid-ajmg1349>3.0.co;2-#. Am J Med Genet. 2001. PMID: 11424138
The ARX mutations: a frequent cause of X-linked mental retardation.
Nawara M, Szczaluba K, Poirier K, Chrzanowska K, Pilch J, Bal J, Chelly J, Mazurczak T. Nawara M, et al. Among authors: pilch j. Am J Med Genet A. 2006 Apr 1;140(7):727-32. doi: 10.1002/ajmg.a.31151. Am J Med Genet A. 2006. PMID: 16523516
166 results