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

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1998 3
1999 1
2000 4
2001 1
2002 1
2003 1
2004 1
2006 1
2007 1
2008 3
2009 2
2010 5
2011 2
2012 2
2016 2
2017 3
2018 6
2019 1
2020 1
2021 1
2022 2
2023 4
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

45 results

Results by year

Filters applied: . Clear all
Page 1
Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J, Canton AP, Chrzanowska KH, Davies JH, Dias RP, Dubern B, Elbracht M, Giabicani E, Grimberg A, Grønskov K, Hokken-Koelega AC, Jorge AA, Kagami M, Linglart A, Maghnie M, Mohnike K, Monk D, Moore GE, Murray PG, Ogata T, Petit IO, Russo S, Said E, Toumba M, Tümer Z, Binder G, Eggermann T, Harbison MD, Temple IK, Mackay DJ, Netchine I. Wakeling EL, et al. Nat Rev Endocrinol. 2017 Feb;13(2):105-124. doi: 10.1038/nrendo.2016.138. Epub 2016 Sep 2. Nat Rev Endocrinol. 2017. PMID: 27585961
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Zampini M, Briggs TA, Jenkinson EM, Bacino CA, Battini R, Bertini E, Brogan PA, Brueton LA, Carpanelli M, De Laet C, de Lonlay P, del Toro M, Desguerre I, Fazzi E, Garcia-Cazorla A, Heiberg A, Kawaguchi M, Kumar R, Lin JP, Lourenco CM, Male AM, Marques W Jr, Mignot C, Olivieri I, Orcesi S, Prabhakar P, Rasmussen M, Robinson RA, Rozenberg F, Schmidt JL, Steindl K, Tan TY, van der Merwe WG, Vanderver A, Vassallo G, Wakeling EL, Wassmer E, Whittaker E, Livingston JH, Lebon P, Suzuki T, McLaughlin PJ, Keegan LP, O'Connell MA, Lovell SC, Crow YJ. Rice GI, et al. Among authors: wakeling el. Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23. Nat Genet. 2012. PMID: 23001123 Free PMC article.
Silver-Russell syndrome.
Wakeling EL. Wakeling EL. Arch Dis Child. 2011 Dec;96(12):1156-61. doi: 10.1136/adc.2010.190165. Epub 2011 Feb 24. Arch Dis Child. 2011. PMID: 21349887 Review.
Bone health and SATB2-associated syndrome.
Zarate YA, Steinraths M, Matthews A, Smith WE, Sun A, Wilson LC, Brain C, Allgove J, Jacobs B, Fish JL, Powell CM, Wasserman WW, van Karnebeek CD, Wakeling EL, Ma NS. Zarate YA, et al. Among authors: wakeling el. Clin Genet. 2018 Mar;93(3):588-594. doi: 10.1111/cge.13121. Epub 2017 Dec 27. Clin Genet. 2018. PMID: 28787087 Review.
Genetics of Silver-Russell syndrome.
Wakeling EL, Abu-Amero S, Price SM, Stanier P, Trembath RC, Moore GE, Preece MA. Wakeling EL, et al. Horm Res. 1998;49 Suppl 2:32-6. doi: 10.1159/000053085. Horm Res. 1998. PMID: 9730670 Review.
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Harms FL, Dingemans AJM, Hempel M, Pfundt R, Bierhals T, Casar C, Müller C, Niermeijer JF, Fischer J, Jahn A, Hübner C, Majore S, Agolini E, Novelli A, van der Smagt J, Ernst R, van Binsbergen E, Mancini GMS, van Slegtenhorst M, Barakat TS, Wakeling EL, Kamath A, Downie L, Pais L, White SM, de Vries BBA, Kutsche K. Harms FL, et al. Among authors: wakeling el. Genet Med. 2023 Oct;25(10):100927. doi: 10.1016/j.gim.2023.100927. Epub 2023 Jul 6. Genet Med. 2023. PMID: 37422718
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Harms FL, Dingemans AJM, Hempel M, Pfundt R, Bierhals T, Casar C, Müller C, Niermeijer JF, Fischer J, Jahn A, Hübner C, Majore S, Agolini E, Novelli A, van der Smagt J, Ernst R, van Binsbergen E, Mancini GMS, van Slegtenhorst M, Barakat TS, Wakeling EL, Kamath A, Downie L, Pais L, White SM, de Vries BBA, Kutsche K. Harms FL, et al. Among authors: wakeling el. Genet Med. 2023 Nov;25(11):100964. doi: 10.1016/j.gim.2023.100964. Epub 2023 Sep 19. Genet Med. 2023. PMID: 37728613 No abstract available.
Epigenetic signatures of Silver-Russell syndrome.
Abu-Amero S, Wakeling EL, Preece M, Whittaker J, Stanier P, Moore GE. Abu-Amero S, et al. Among authors: wakeling el. J Med Genet. 2010 Mar;47(3):150-4. doi: 10.1136/jmg.2009.071316. J Med Genet. 2010. PMID: 20305090 Review. No abstract available.
Experiences of adolescents living with Silver-Russell syndrome.
Ballard LM, Jenkinson E, Byrne CD, Child JC, Inskip H, Lokulo-Sodipe O, Mackay DJG, Wakeling EL, Davies JH, Temple IK, Fenwick A. Ballard LM, et al. Among authors: wakeling el. Arch Dis Child. 2021 Dec;106(12):1195-1201. doi: 10.1136/archdischild-2020-321376. Epub 2021 Mar 19. Arch Dis Child. 2021. PMID: 33741574
45 results