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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 2
2004 4
2005 4
2006 2
2007 6
2008 4
2009 11
2010 17
2011 14
2012 8
2013 9
2014 9
2015 9
2016 12
2017 8
2018 2
2019 4
2020 7
2021 14
2022 6
2023 5
2024 3

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133 results

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Page 1
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activity.
Vogel GF, Podpeskar A, Rieder D, Salzer H, Garczarczyk-Asim D, Wang L, Abuduxikuer K, Wang JS, Scharrer A, Faqeih EA, Aseeri AT, Vodopiutz J, Heilos A, Pichler J, Huber WD, Müller T, Knisely AS, Janecke AR. Vogel GF, et al. Among authors: janecke ar. Clin Genet. 2024 Mar 29. doi: 10.1111/cge.14524. Online ahead of print. Clin Genet. 2024. PMID: 38553872
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Stegmann JD, et al. Among authors: janecke ar. NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9. NPJ Genom Med. 2024. PMID: 38429302 Free PMC article.
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.
Patterson K, Chong JX, Chung DD, Lisch W, Karp CL, Dreisler E, Lockington D, Rohrbach JM, Garczarczyk-Asim D, Müller T, Tuft SJ, Skalicka P, Wilnai Y, Samra NN, Ibrahim A, Mandel H, Davidson AE, Liskova P, Aldave AJ, Bamshad MJ, Janecke AR. Patterson K, et al. Among authors: janecke ar. Am J Ophthalmol. 2024 Feb;258:183-195. doi: 10.1016/j.ajo.2023.10.011. Epub 2023 Nov 14. Am J Ophthalmol. 2024. PMID: 37972748 Free article.
CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.
Oppermann H, Marcos-Grañeda E, Weiss LA, Gurnett CA, Jelsig AM, Vineke SH, Isidor B, Mercier S, Magnussen K, Zacher P, Hashim M, Pagnamenta AT, Race S, Srivastava S, Frazier Z, Maiwald R, Pergande M, Milani D, Rinelli M, Levy J, Krey I, Fontana P, Lonardo F, Riley S, Kretzer J, Rankin J, Reis LM, Semina EV, Reuter MS, Scherer SW, Iascone M, Weis D, Fagerberg CR, Brasch-Andersen C, Hansen LK, Kuechler A, Noble N, Gardham A, Tenney J, Rathore G, Beck-Woedl S, Haack TB, Pavlidou DC, Atallah I, Vodopiutz J, Janecke AR, Hsieh TC, Lesmann H, Klinkhammer H, Krawitz PM, Lemke JR, Jamra RA, Nieto M, Tümer Z, Platzer K. Oppermann H, et al. Among authors: janecke ar. Eur J Hum Genet. 2023 Nov;31(11):1251-1260. doi: 10.1038/s41431-023-01445-2. Epub 2023 Aug 30. Eur J Hum Genet. 2023. PMID: 37644171 Free PMC article.
Extremely severe hypochloremic metabolic alkalosis after ileorectal anastomosis in a patient with chronic intestinal pseudo-obstruction.
Heinz-Erian P, Janecke AR, Müller T, Rehder P, Bruder E, Menter T, Zoller H, Pirklbauer M, Rieger M. Heinz-Erian P, et al. Among authors: janecke ar. Gastroenterol Rep (Oxf). 2023 Jun 30;11:goad037. doi: 10.1093/gastro/goad037. eCollection 2023. Gastroenterol Rep (Oxf). 2023. PMID: 37398928 Free PMC article. No abstract available.
Internal Ileal Diversion as Treatment for Progressive Familial Intrahepatic Cholestasis Type 1-Associated Graft Inflammation and Steatosis after Liver Transplantation.
Kavallar AM, Messner F, Scheidl S, Oberhuber R, Schneeberger S, Aldrian D, Berchtold V, Sanal M, Entenmann A, Straub S, Gasser A, Janecke AR, Müller T, Vogel GF. Kavallar AM, et al. Among authors: janecke ar. Children (Basel). 2022 Dec 14;9(12):1964. doi: 10.3390/children9121964. Children (Basel). 2022. PMID: 36553407 Free PMC article.
Further delineation of SLC9A3-related congenital sodium diarrhea.
Bogdanic E, Müller T, Heinz-Erian P, Garczarczyk-Asim D, Janecke AR, Rückel A. Bogdanic E, et al. Among authors: janecke ar. Mol Genet Genomic Med. 2022 Aug;10(8):e2000. doi: 10.1002/mgg3.2000. Epub 2022 Jun 30. Mol Genet Genomic Med. 2022. PMID: 35775128 Free PMC article.
UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.
Duclaux-Loras R, Lebreton C, Berthelet J, Charbit-Henrion F, Nicolle O, Revenu des Courtils C, Waich S, Valovka T, Khiat A, Rabant M, Racine C, Guerrera IC, Baptista J, Mahe MM, Hess MW, Durel B, Lefort N, Banal C, Parisot M, Talbotec C, Lacaille F, Ecochard-Dugelay E, Demir AM, Vogel GF, Faivre L, Rodrigues A, Fowler D, Janecke AR, Müller T, Huber LA, Rodrigues-Lima F, Ruemmele FM, Uhlig HH, Del Bene F, Michaux G, Cerf-Bensussan N, Parlato M. Duclaux-Loras R, et al. Among authors: janecke ar. J Clin Invest. 2022 May 16;132(10):e154997. doi: 10.1172/JCI154997. J Clin Invest. 2022. PMID: 35575086 Free PMC article.
133 results