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Page 1
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.
Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nürnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernández-Martínez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nürnberg P, Reis A, Rauch A. Pasutto F, et al. Among authors: von der wense a. Am J Hum Genet. 2007 Mar;80(3):550-60. doi: 10.1086/512203. Epub 2007 Jan 29. Am J Hum Genet. 2007. PMID: 17273977 Free PMC article.
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Martin-Almedina S, Ogmen K, Sackey E, Grigoriadis D, Karapouliou C, Nadarajah N, Ebbing C, Lord J, Mellis R, Kortuem F, Dinulos MB, Polun C, Bale S, Atton G, Robinson A, Reigstad H, Houge G, von der Wense A, Becker WH, Jeffery S, Mortimer PS, Gordon K, Josephs KS, Robart S, Kilby MD, Vallee S, Gorski JL, Hempel M, Berland S, Mansour S, Ostergaard P. Martin-Almedina S, et al. Among authors: von der wense a. Genet Med. 2021 Jul;23(7):1315-1324. doi: 10.1038/s41436-021-01136-7. Epub 2021 Apr 16. Genet Med. 2021. PMID: 33864021 Free PMC article.
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Martin-Almedina S, Ogmen K, Sackey E, Grigoriadis D, Karapouliou C, Nadarajah N, Ebbing C, Lord J, Mellis R, Kortuem F, Dinulos MB, Polun C, Bale S, Atton G, Robinson A, Reigstad H, Houge G, von der Wense A, Becker WH, Jeffery S, Mortimer PS, Gordon K, Josephs KS, Robart S, Kilby MD, Vallee S, Gorski JL, Hempel M, Berland S, Mansour S, Ostergaard P. Martin-Almedina S, et al. Among authors: von der wense a. Genet Med. 2021 Jul;23(7):1376-1377. doi: 10.1038/s41436-021-01202-0. Genet Med. 2021. PMID: 34040196 Free PMC article. No abstract available.
Prenatal latex sensitization in patients with spina bifida: a pilot study.
Boettcher M, Goettler S, Eschenburg G, Kracht T, Kunkel P, Von der Wense A, Reinshagen K. Boettcher M, et al. Among authors: von der wense a. J Neurosurg Pediatr. 2014 Mar;13(3):291-4. doi: 10.3171/2013.12.PEDS13402. Epub 2014 Jan 3. J Neurosurg Pediatr. 2014. PMID: 24404967
Less invasive surfactant administration is associated with improved pulmonary outcomes in spontaneously breathing preterm infants.
Göpel W, Kribs A, Härtel C, Avenarius S, Teig N, Groneck P, Olbertz D, Roll C, Vochem M, Weller U, von der Wense A, Wieg C, Wintgens J, Preuss M, Ziegler A, Roth B, Herting E; German Neonatal Network (GNN). Göpel W, et al. Among authors: von der wense a. Acta Paediatr. 2015 Mar;104(3):241-6. doi: 10.1111/apa.12883. Acta Paediatr. 2015. PMID: 25474712 Clinical Trial.
Risk for late-onset blood-culture proven sepsis in very-low-birth weight infants born small for gestational age: a large multicenter study from the German Neonatal Network.
Tröger B, Göpel W, Faust K, Müller T, Jorch G, Felderhoff-Müser U, Gortner L, Heitmann F, Hoehn T, Kribs A, Laux R, Roll C, Emeis M, Mögel M, Siegel J, Vochem M, von der Wense A, Wieg C, Herting E, Härtel C; German Neonatal Network. Tröger B, et al. Among authors: von der wense a. Pediatr Infect Dis J. 2014 Mar;33(3):238-43. doi: 10.1097/INF.0000000000000031. Pediatr Infect Dis J. 2014. PMID: 24030351
Association of Administration of Surfactant Using Less Invasive Methods With Outcomes in Extremely Preterm Infants Less Than 27 Weeks of Gestation.
Härtel C, Herting E, Humberg A, Hanke K, Mehler K, Keller T, Mauer I, Frieauff E, Meyer S, Thome UH, Wieg C, Schmidtke S, Kribs A, Göpel W; German Neonatal Network. Härtel C, et al. JAMA Netw Open. 2022 Aug 1;5(8):e2225810. doi: 10.1001/jamanetworkopen.2022.25810. JAMA Netw Open. 2022. PMID: 35943742 Free PMC article.
Preterm prelabor rupture of membranes and outcome of very-low-birth-weight infants in the German Neonatal Network.
Hanke K, Hartz A, Manz M, Bendiks M, Heitmann F, Orlikowsky T, Müller A, Olbertz D, Kühn T, Siegel J, von der Wense A, Wieg C, Kribs A, Stein A, Pagel J, Herting E, Göpel W, Härtel C; German Neonatal Network (GNN). Hanke K, et al. Among authors: von der wense a. PLoS One. 2015 Apr 9;10(4):e0122564. doi: 10.1371/journal.pone.0122564. eCollection 2015. PLoS One. 2015. PMID: 25856083 Free PMC article.
Active perinatal care of preterm infants in the German Neonatal Network.
Humberg A, Härtel C, Rausch TK, Stichtenoth G, Jung P, Wieg C, Kribs A, von der Wense A, Weller U, Höhn T, Olbertz DM, Felderhoff-Müser U, Rossi R, Teig N, Heitmann F, Schmidtke S, Bohnhorst B, Vochem M, Segerer H, Möller J, Eichhorn JG, Wintgens J, Böttger R, Hubert M, Dördelmann M, Hillebrand G, Roll C, Jensen R, Zemlin M, Mögel M, Werner C, Schäfer S, Schaible T, Franz A, Heldmann M, Ehlers S, Kannt O, Orlikowsky T, Gerleve H, Schneider K, Haase R, Böckenholt K, Linnemann K, Herting E, Göpel W. Humberg A, et al. Among authors: von der wense a. Arch Dis Child Fetal Neonatal Ed. 2020 Mar;105(2):190-195. doi: 10.1136/archdischild-2018-316770. Epub 2019 Jun 27. Arch Dis Child Fetal Neonatal Ed. 2020. PMID: 31248963
39 results