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Page 1
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Nat Rev Genet. 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0.
Nat Rev Genet. 2018.
PMID: 29995837
Free PMC article.
Review.
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
Blagowidow N, Nowakowska B, Schindewolf E, Grati FR, Putotto C, Breckpot J, Swillen A, Crowley TB, Loo JCY, Lairson LA, Óskarsdóttir S, Boot E, Garcia-Minaur S, Cristina Digilio M, Marino B, Coleman B, Moldenhauer JS, Bassett AS, McDonald-McGinn DM.
Blagowidow N, et al.
Genes (Basel). 2023 Jan 6;14(1):160. doi: 10.3390/genes14010160.
Genes (Basel). 2023.
PMID: 36672900
Free PMC article.
Review.
Item in Clipboard
Obstetrics and gynecology in Ehlers-Danlos syndrome: A brief review and update.
Blagowidow N.
Blagowidow N.
Am J Med Genet C Semin Med Genet. 2021 Dec;187(4):593-598. doi: 10.1002/ajmg.c.31945. Epub 2021 Nov 12.
Am J Med Genet C Semin Med Genet. 2021.
PMID: 34773390
Review.
Item in Clipboard
Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.
Goldmuntz E, Bassett AS, Boot E, Marino B, Moldenhauer JS, Óskarsdóttir S, Putotto C, Rychik J, Schindewolf E, McDonald-McGinn DM, Blagowidow N.
Goldmuntz E, et al. Among authors: blagowidow n.
Prenat Diagn. 2024 Apr 9. doi: 10.1002/pd.6566. Online ahead of print.
Prenat Diagn. 2024.
PMID: 38593251
Review.
Item in Clipboard
Natural history of aging in Cornelia de Lange syndrome.
Kline AD, Grados M, Sponseller P, Levy HP, Blagowidow N, Schoedel C, Rampolla J, Clemens DK, Krantz I, Kimball A, Pichard C, Tuchman D.
Kline AD, et al. Among authors: blagowidow n.
Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):248-60. doi: 10.1002/ajmg.c.30137.
Am J Med Genet C Semin Med Genet. 2007.
PMID: 17640042
Free PMC article.
Review.
Item in Clipboard
Clinical, developmental and molecular update on Cornelia de Lange syndrome and the cohesin complex: abstracts from the 2014 Scientific and Educational Symposium.
Kline AD, Calof AL, Lander AD, Gerton JL, Krantz ID, Dorsett D, Deardorff MA, Blagowidow N, Yokomori K, Shirahige K, Santos R, Woodman J, Megee PC, O'Connor JT, Egense A, Noon S, Belote M, Goodban MT, Hansen BD, Timmons JG, Musio A, Ishman SL, Bryan Y, Wu Y, Bettini LR, Mehta D, Zakari M, Mills JA, Srivastava S, Haaland RE.
Kline AD, et al. Among authors: blagowidow n.
Am J Med Genet A. 2015 Jun;167(6):1179-92. doi: 10.1002/ajmg.a.37056. Epub 2015 Apr 21.
Am J Med Genet A. 2015.
PMID: 25899772
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Cornelia de Lange syndrome: extending the physical and psychological phenotype.
Oliver C, Bedeschi MF, Blagowidow N, Carrico CS, Cereda A, Fitzpatrick DR, Gervasini C, Griffith GM, Kline AD, Marchisio P, Moss J, Ramos FJ, Selicorni A, Tunnicliffe P, Wierzba J, Hennekam RC.
Oliver C, et al. Among authors: blagowidow n.
Am J Med Genet A. 2010 May;152A(5):1127-35. doi: 10.1002/ajmg.a.33363.
Am J Med Genet A. 2010.
PMID: 20425817
No abstract available.
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