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Page 1
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, Holder-Espinasse M, Roume J, Malan V, Portnoi MF, Jeanne N, Baumann C, Héron D, David A, Gérard M, Bonneau D, Lacombe D, Cormier-Daire V, Billette de Villemeur T, Frébourg T, Bürglen L. Saugier-Veber P, et al. Among authors: fehrenbach s. Hum Mutat. 2007 Nov;28(11):1098-107. doi: 10.1002/humu.20568. Hum Mutat. 2007. PMID: 17565729
A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.
Vezain M, Saugier-Veber P, Melki J, Toutain A, Bieth E, Husson M, Pedespan JM, Viollet L, Pénisson-Besnier I, Fehrenbach S, Bou J, Frébourg T, Tosi M. Vezain M, et al. Among authors: fehrenbach s. Eur J Hum Genet. 2007 Oct;15(10):1054-62. doi: 10.1038/sj.ejhg.5201885. Epub 2007 Jul 4. Eur J Hum Genet. 2007. PMID: 17609673
Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly.
Grotto S, Drouin-Garraud V, Ounap K, Puusepp-Benazzouz H, Schuurs-Hoeijmakers J, Le Meur N, Chambon P, Fehrenbach S, van Bokhoven H, Frébourg T, de Brouwer AP, Saugier-Veber P. Grotto S, et al. Among authors: fehrenbach s. Eur J Med Genet. 2014 Apr;57(5):200-6. doi: 10.1016/j.ejmg.2013.12.012. Epub 2014 Jan 22. Eur J Med Genet. 2014. PMID: 24462886
Retrotransposon insertion as a novel mutational cause of spinal muscular atrophy.
Vezain M, Thauvin-Robinet C, Vial Y, Coutant S, Drunat S, Urtizberea JA, Rolland A, Jacquin-Piques A, Fehrenbach S, Nicolas G, Lecoquierre F, Saugier-Veber P. Vezain M, et al. Among authors: fehrenbach s. Hum Genet. 2023 Jan;142(1):125-138. doi: 10.1007/s00439-022-02473-6. Epub 2022 Sep 23. Hum Genet. 2023. PMID: 36138164
Genetic compensation in a human genomic disorder.
Carelle-Calmels N, Saugier-Veber P, Girard-Lemaire F, Rudolf G, Doray B, Guérin E, Kuhn P, Arrivé M, Gilch C, Schmitt E, Fehrenbach S, Schnebelen A, Frébourg T, Flori E. Carelle-Calmels N, et al. Among authors: fehrenbach s. N Engl J Med. 2009 Mar 19;360(12):1211-6. doi: 10.1056/NEJMoa0806544. N Engl J Med. 2009. PMID: 19297573 Free article.
The CDC Domestic Mpox Response - United States, 2022-2023.
McQuiston JH, Braden CR, Bowen MD, McCollum AM, McDonald R, Carnes N, Carter RJ, Christie A, Doty JB, Ellington S, Fehrenbach SN, Gundlapalli AV, Hutson CL, Kachur RE, Maitland A, Pearson CM, Prejean J, Quilter LAS, Rao AK, Yu Y, Mermin J. McQuiston JH, et al. Among authors: fehrenbach sn. MMWR Morb Mortal Wkly Rep. 2023 May 19;72(20):547-552. doi: 10.15585/mmwr.mm7220a2. MMWR Morb Mortal Wkly Rep. 2023. PMID: 37200231 Free PMC article.
A Field Placement Approach to Enhance State and Local Capacity for Opioid-Related Issues Affecting Pregnant and Postpartum People and Infants Prenatally Exposed to Opioids and Other Substances.
Weber MK, Tran EL, Kroelinger CD, Ellison C, Mueller T, Romero L, Ellick KL, Rice ME, Garcia G, Pliska E, Akbarali S, Dronamraju R, Patterson K, Fehrenbach SN, Barfield WD. Weber MK, et al. Among authors: fehrenbach sn. J Womens Health (Larchmt). 2022 Feb;31(2):145-153. doi: 10.1089/jwh.2022.0011. J Womens Health (Larchmt). 2022. PMID: 35147468 Free PMC article.
22 results