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Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features.
Spengler S, Begemann M, Ortiz Brüchle N, Baudis M, Denecke B, Kroisel PM, Oehl-Jaschkowitz B, Schulze B, Raabe-Meyer G, Spaich C, Blümel P, Jauch A, Moog U, Zerres K, Eggermann T. Spengler S, et al. Among authors: jauch a. J Pediatr. 2012 Nov;161(5):933-42. doi: 10.1016/j.jpeds.2012.04.045. Epub 2012 Jun 8. J Pediatr. 2012. PMID: 22683032
A boy with Silver-Russell syndrome and Sotos syndrome.
Schwaibold EMC, Beygo J, Obeid K, Jauch A, Hinderhofer K, Moog U. Schwaibold EMC, et al. Among authors: jauch a. Am J Med Genet A. 2021 Feb;185(2):549-554. doi: 10.1002/ajmg.a.61967. Epub 2020 Nov 15. Am J Med Genet A. 2021. PMID: 33191647
Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.
van Rahden VA, Rau I, Fuchs S, Kosyna FK, de Almeida HL Jr, Fryssira H, Isidor B, Jauch A, Joubert M, Lachmeijer AM, Zweier C, Moog U, Kutsche K. van Rahden VA, et al. Among authors: jauch a. Orphanet J Rare Dis. 2014 Apr 15;9:53. doi: 10.1186/1750-1172-9-53. Orphanet J Rare Dis. 2014. PMID: 24735900 Free PMC article.
Germ cell mosaicism for AUTS2 exon 6 deletion.
Gieldon L, Jauch A, Obeid K, Kaufmann L, Hinderhofer K, Haug U, Moog U. Gieldon L, et al. Among authors: jauch a. Am J Med Genet A. 2021 Apr;185(4):1261-1265. doi: 10.1002/ajmg.a.62091. Epub 2021 Feb 12. Am J Med Genet A. 2021. PMID: 33577136
The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?
Dikow N, Maas B, Gaspar H, Kreiss-Nachtsheim M, Engels H, Kuechler A, Garbes L, Netzer C, Neuhann TM, Koehler U, Casteels K, Devriendt K, Janssen JW, Jauch A, Hinderhofer K, Moog U. Dikow N, et al. Among authors: jauch a. Am J Med Genet A. 2013 Sep;161A(9):2158-66. doi: 10.1002/ajmg.a.36046. Epub 2013 Aug 2. Am J Med Genet A. 2013. PMID: 23913520
333 results