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Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification.
Tasse C, Böhringer S, Fischer S, Lüdecke HJ, Albrecht B, Horn D, Janecke A, Kling R, König R, Lorenz B, Majewski F, Maeyens E, Meinecke P, Mitulla B, Mohr C, Preischl M, Umstadt H, Kohlhase J, Gillessen-Kaesbach G, Wieczorek D. Tasse C, et al. Among authors: janecke a. Eur J Med Genet. 2005 Oct-Dec;48(4):397-411. doi: 10.1016/j.ejmg.2005.04.015. Epub 2005 Jun 8. Eur J Med Genet. 2005. PMID: 16378924
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad MH, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie MG, Boycott KM, Gilissen C, Janecke AR, Hoischen A, Zenker M. Acuna-Hidalgo R, et al. Among authors: janecke ar. Am J Hum Genet. 2014 Sep 4;95(3):285-93. doi: 10.1016/j.ajhg.2014.07.012. Epub 2014 Aug 21. Am J Hum Genet. 2014. PMID: 25152457 Free PMC article.
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
Lausch E, Janecke A, Bros M, Trojandt S, Alanay Y, De Laet C, Hübner CA, Meinecke P, Nishimura G, Matsuo M, Hirano Y, Tenoutasse S, Kiss A, Rosa RF, Unger SL, Renella R, Bonafé L, Spranger J, Unger S, Zabel B, Superti-Furga A. Lausch E, et al. Among authors: janecke a. Nat Genet. 2011 Feb;43(2):132-7. doi: 10.1038/ng.749. Epub 2011 Jan 9. Nat Genet. 2011. PMID: 21217752
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia.
Nik-Zainal S, Strick R, Storer M, Huang N, Rad R, Willatt L, Fitzgerald T, Martin V, Sandford R, Carter NP, Janecke AR, Renner SP, Oppelt PG, Oppelt P, Schulze C, Brucker S, Hurles M, Beckmann MW, Strissel PL, Shaw-Smith C. Nik-Zainal S, et al. J Med Genet. 2011 Mar;48(3):197-204. doi: 10.1136/jmg.2010.082412. Epub 2011 Jan 28. J Med Genet. 2011. PMID: 21278390 Free PMC article.
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Vodopiutz J, Seidl R, Prayer D, Khan MI, Mayr JA, Streubel B, Steiß JO, Hahn A, Csaicsich D, Castro C, Assoum M, Müller T, Wieczorek D, Mancini GM, Sadowski CE, Lévy N, Mégarbané A, Godbole K, Schanze D, Hildebrandt F, Delague V, Janecke AR, Zenker M. Vodopiutz J, et al. Among authors: janecke ar. Hum Mutat. 2015 Nov;36(11):1021-8. doi: 10.1002/humu.22828. Epub 2015 Aug 6. Hum Mutat. 2015. PMID: 26123727 Free PMC article.
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T. Minatogawa M, et al. Among authors: janecke ar. J Med Genet. 2022 Sep;59(9):865-877. doi: 10.1136/jmedgenet-2020-107623. Epub 2021 Nov 23. J Med Genet. 2022. PMID: 34815299 Free PMC article.
183 results