Harbison MD - Search Results

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. Among authors: harbison md. 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

2

Effect of Cyproheptadine on Weight and Growth Velocity in Children With Silver-Russell Syndrome.

Lemoine A, Harbison MD, Salem J, Tounian P, Netchine I, Dubern B. Lemoine A, et al. Among authors: harbison md. J Pediatr Gastroenterol Nutr. 2018 Feb;66(2):306-311. doi: 10.1097/MPG.0000000000001708. J Pediatr Gastroenterol Nutr. 2018. PMID: 28806298

3

The Importance of Collaboration in Advancing Understanding of Rare Disorders: US/EU Joint Initiative on Silver-Russell Syndrome.

Salem JB, Netchine I, Harbison MD. Salem JB, et al. Among authors: harbison md. Pediatr Endocrinol Rev. 2017 Nov;15(Suppl 1):98-101. doi: 10.17458/per.vol15.2017.snh.importancecollaborationadvancing. Pediatr Endocrinol Rev. 2017. PMID: 29292872

4

Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome.

Geoffron S, Abi Habib W, Chantot-Bastaraud S, Dubern B, Steunou V, Azzi S, Afenjar A, Busa T, Pinheiro Canton A, Chalouhi C, Dufourg MN, Esteva B, Fradin M, Geneviève D, Heide S, Isidor B, Linglart A, Morice Picard F, Naud-Saudreau C, Oliver Petit I, Philip N, Pienkowski C, Rio M, Rossignol S, Tauber M, Thevenon J, Vu-Hong TA, Harbison MD, Salem J, Brioude F, Netchine I, Giabicani E. Geoffron S, et al. Among authors: harbison md. J Clin Endocrinol Metab. 2018 Jul 1;103(7):2436-2446. doi: 10.1210/jc.2017-02152. J Clin Endocrinol Metab. 2018. PMID: 29659920

5

A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome.

Azzi S, Salem J, Thibaud N, Chantot-Bastaraud S, Lieber E, Netchine I, Harbison MD. Azzi S, et al. Among authors: harbison md. J Med Genet. 2015 Jul;52(7):446-53. doi: 10.1136/jmedgenet-2014-102979. Epub 2015 May 7. J Med Genet. 2015. PMID: 25951829 Free PMC article.

6

11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome.

Abi Habib W, Brioude F, Azzi S, Salem J, Das Neves C, Personnier C, Chantot-Bastaraud S, Keren B, Le Bouc Y, Harbison MD, Netchine I. Abi Habib W, et al. Among authors: harbison md. Hum Mutat. 2017 Jan;38(1):105-111. doi: 10.1002/humu.23131. Epub 2016 Oct 26. Hum Mutat. 2017. PMID: 27701793

7

Transcriptional profiling at the DLK1/MEG3 domain explains clinical overlap between imprinting disorders.

Abi Habib W, Brioude F, Azzi S, Rossignol S, Linglart A, Sobrier ML, Giabicani É, Steunou V, Harbison MD, Le Bouc Y, Netchine I. Abi Habib W, et al. Among authors: harbison md. Sci Adv. 2019 Feb 20;5(2):eaau9425. doi: 10.1126/sciadv.aau9425. eCollection 2019 Feb. Sci Adv. 2019. PMID: 30801013 Free PMC article.

8

Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1.

Fernández-Fructuoso JR, De la Torre-Sandoval C, Harbison MD, Chantot-Bastaraud S, Temple K, Lloreda-Garcia JM, Olmo-Sanchez M, Netchine I. Fernández-Fructuoso JR, et al. Among authors: harbison md. Clin Dysmorphol. 2021 Oct 1;30(4):194-196. doi: 10.1097/MCD.0000000000000375. Clin Dysmorphol. 2021. PMID: 34480472

9

Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation.

Azzi S, Blaise A, Steunou V, Harbison MD, Salem J, Brioude F, Rossignol S, Habib WA, Thibaud N, Neves CD, Jule ML, Brachet C, Heinrichs C, Bouc YL, Netchine I. Azzi S, et al. Among authors: harbison md. Hum Mutat. 2014 Oct;35(10):1211-20. doi: 10.1002/humu.22623. Epub 2014 Aug 22. Hum Mutat. 2014. PMID: 25044976

10

Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction.

Abi Habib W, Brioude F, Edouard T, Bennett JT, Lienhardt-Roussie A, Tixier F, Salem J, Yuen T, Azzi S, Le Bouc Y, Harbison MD, Netchine I. Abi Habib W, et al. Among authors: harbison md. Genet Med. 2018 Feb;20(2):250-258. doi: 10.1038/gim.2017.105. Epub 2017 Aug 10. Genet Med. 2018. PMID: 28796236 Free PMC article.

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