Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

21 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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
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
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.
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
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.
A Preparedness Model for Mother-Baby Linked Longitudinal Surveillance for Emerging Threats.
Woodworth KR, Reynolds MR, Burkel V, Gates C, Eckert V, McDermott C, Barton J, Wilburn A, Halai UA, Brown CM, Bocour A, Longcore N, Orkis L, Lopez CD, Sizemore L, Ellis EM, Schillie S, Gupta N, Bowen VB, Torrone E, Ellington SR, Delaney A, Olson SM, Roth NM, Whitehill F, Zambrano LD, Meaney-Delman D, Fehrenbach SN, Honein MA, Tong VT, Gilboa SM. Woodworth KR, et al. Among authors: fehrenbach sn. Matern Child Health J. 2021 Feb;25(2):198-206. doi: 10.1007/s10995-020-03106-y. Epub 2021 Jan 4. Matern Child Health J. 2021. PMID: 33394275 Free PMC article.
21 results