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Items: 1 to 20 of 97

1.

Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

Russell B, Johnston JJ, Biesecker LG, Kramer N, Pickart A, Rhead W, Tan WH, Brownstein CA, Kate Clarkson L, Dobson A, Rosenberg AZ, Vergano SA, Helm BM, Harrison RE, Graham JM Jr.

Am J Med Genet A. 2015 Sep;167A(9):2122-31. doi: 10.1002/ajmg.a.37131. Epub 2015 Apr 29.

2.

Bohring-Opitz Syndrome.

Russell B, Tan WH, Graham JM Jr.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2018 Feb 15.

3.

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

Magini P, Della Monica M, Uzielli ML, Mongelli P, Scarselli G, Gambineri E, Scarano G, Seri M.

Am J Med Genet A. 2012 Apr;158A(4):917-21. doi: 10.1002/ajmg.a.35265. Epub 2012 Mar 14.

PMID:
22419483
4.

Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.

Urreizti R, Roca-Ayats N, Trepat J, Garcia-Garcia F, Aleman A, Orteschi D, Marangi G, Neri G, Opitz JM, Dopazo J, Cormand B, Vilageliu L, Balcells S, Grinberg D.

Am J Med Genet A. 2016 Jan;170A(1):24-31. doi: 10.1002/ajmg.a.37418. Epub 2015 Oct 7.

PMID:
26768331
5.

De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

Hoischen A, van Bon BW, Rodríguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB.

Nat Genet. 2011 Jun 26;43(8):729-31. doi: 10.1038/ng.868.

PMID:
21706002
6.

Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.

Dangiolo SB, Wilson A, Jobanputra V, Anyane-Yeboa K.

Am J Med Genet A. 2015 Dec;167A(12):3161-6. doi: 10.1002/ajmg.a.37342. Epub 2015 Sep 14. Review.

PMID:
26364555
7.

Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome.

Carlston CM, O'Donnell-Luria AH, Underhill HR, Cummings BB, Weisburd B, Minikel EV, Birnbaum DP; Exome Aggregation Consortium, Tvrdik T, MacArthur DG, Mao R.

Hum Mutat. 2017 May;38(5):517-523. doi: 10.1002/humu.23203. Epub 2017 Mar 21. Review.

8.

Loss of Asxl1 Alters Self-Renewal and Cell Fate of Bone Marrow Stromal Cell, Leading to Bohring-Opitz-like Syndrome in Mice.

Zhang P, Xing C, Rhodes SD, He Y, Deng K, Li Z, He F, Zhu C, Nguyen L, Zhou Y, Chen S, Mohammad KS, Guise TA, Abdel-Wahab O, Xu M, Wang QF, Yang FC.

Stem Cell Reports. 2016 Jun 14;6(6):914-925. doi: 10.1016/j.stemcr.2016.04.013. Epub 2016 May 26.

9.

A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome.

Arunachal G, Danda S, Omprakash S, Kumar S.

Clin Dysmorphol. 2016 Jul;25(3):101-5. doi: 10.1097/MCD.0000000000000126. No abstract available.

PMID:
27043953
10.

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.

Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, Study D, Rivière JB, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C, Thevenon J.

J Med Genet. 2017 Dec;54(12):830-835. doi: 10.1136/jmedgenet-2017-104748. Epub 2017 Oct 26.

PMID:
29074562
11.

Bohring-Opitz syndrome caused by an ASXL1 mutation inherited from a germline mosaic mother.

Bedoukian E, Copenheaver D, Bale S, Deardorff M.

Am J Med Genet A. 2018 May;176(5):1249-1252. doi: 10.1002/ajmg.a.38686.

PMID:
29681100
12.

Cancer-associated ASXL1 mutations may act as gain-of-function mutations of the ASXL1-BAP1 complex.

Balasubramani A, Larjo A, Bassein JA, Chang X, Hastie RB, Togher SM, Lähdesmäki H, Rao A.

Nat Commun. 2015 Jun 22;6:7307. doi: 10.1038/ncomms8307.

13.

Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.

Avila M, Kirchhoff M, Marle N, Hove HD, Chouchane M, Thauvin-Robinet C, Masurel A, Mosca-Boidron AL, Callier P, Mugneret F, Kjaergaard S, Faivre L.

Am J Med Genet A. 2013 Jul;161A(7):1594-8. doi: 10.1002/ajmg.a.35970. Epub 2013 May 22.

PMID:
23704076
14.

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases.

Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH.

Am J Med Genet A. 2014 Oct;164A(10):2557-66. doi: 10.1002/ajmg.a.36696. Epub 2014 Aug 14. Erratum in: Am J Med Genet A. 2015 Jul;167(7):1682-3.

PMID:
25123255
15.

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, Faivre L, Rivière JB, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Lüdecke HJ, Wieczorek D.

Eur J Hum Genet. 2017 Feb;25(2):183-191. doi: 10.1038/ejhg.2016.165. Epub 2016 Nov 30.

16.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM; Undiagnosed Diseases Network, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortüm F.

Am J Hum Genet. 2016 Oct 6;99(4):991-999. doi: 10.1016/j.ajhg.2016.08.017. Epub 2016 Sep 29. Erratum in: Am J Hum Genet. 2017 Jan 5;100(1):179.

17.

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, Okamoto N, Kato M, Tsunoda T, Yamasaki M, Kanemura Y, Kosaki K, Saitoh S.

Am J Med Genet A. 2016 Jul;170(7):1863-7. doi: 10.1002/ajmg.a.37653. Epub 2016 Apr 13.

PMID:
27075689
18.

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz Syndrome.

Urreizti R, Gürsoy S, Castilla-Vallmanya L, Cunill G, Rabionet R, Erçal D, Grinberg D, Balcells S.

Clin Case Rep. 2018 Jun 10;6(8):1452-1456. doi: 10.1002/ccr3.1603. eCollection 2018 Aug.

19.

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.

Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH.

Genome Med. 2013 Feb 5;5(2):11. doi: 10.1186/gm415. eCollection 2013.

20.

Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

Hastings R, Cobben JM, Gillessen-Kaesbach G, Goodship J, Hove H, Kjaergaard S, Kemp H, Kingston H, Lunt P, Mansour S, McGowan R, Metcalfe K, Murdoch-Davis C, Ray M, Rio M, Smithson S, Tolmie J, Turnpenny P, van Bon B, Wieczorek D, Newbury-Ecob R.

Eur J Hum Genet. 2011 May;19(5):513-9. doi: 10.1038/ejhg.2010.234. Epub 2011 Feb 2. Review.

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