Aldinger KA - Search Results

1

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.

Marzin P, Rondeau S, Aldinger KA, Alessandri JL, Isidor B, Heron D, Keren B, Dobyns WB, Cormier-Daire V. Marzin P, et al. Among authors: aldinger ka. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):509-518. doi: 10.1002/ajmg.c.31746. Epub 2019 Oct 23. Am J Med Genet C Semin Med Genet. 2019. PMID: 31643139 Review.

2

Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2.

Rajab A, Aldinger KA, El-Shirbini HA, Dobyns WB, Ross ME. Rajab A, et al. Among authors: aldinger ka. Am J Med Genet A. 2009 Feb;149A(2):129-37. doi: 10.1002/ajmg.a.32630. Am J Med Genet A. 2009. PMID: 19161147 Free PMC article.

3

Association and mutation analyses of 16p11.2 autism candidate genes.

Kumar RA, Marshall CR, Badner JA, Babatz TD, Mukamel Z, Aldinger KA, Sudi J, Brune CW, Goh G, Karamohamed S, Sutcliffe JS, Cook EH, Geschwind DH, Dobyns WB, Scherer SW, Christian SL. Kumar RA, et al. Among authors: aldinger ka. PLoS One. 2009;4(2):e4582. doi: 10.1371/journal.pone.0004582. Epub 2009 Feb 26. PLoS One. 2009. PMID: 19242545 Free PMC article.

4

FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation.

Aldinger KA, Lehmann OJ, Hudgins L, Chizhikov VV, Bassuk AG, Ades LC, Krantz ID, Dobyns WB, Millen KJ. Aldinger KA, et al. Nat Genet. 2009 Sep;41(9):1037-42. doi: 10.1038/ng.422. Epub 2009 Aug 9. Nat Genet. 2009. PMID: 19668217 Free PMC article.

5

X-linked hereditary hemihypotrophy hemiparesis hemiathetosis.

Reese J Jr, Aldinger KA, Dobyns WB, Gripp KW. Reese J Jr, et al. Among authors: aldinger ka. Am J Med Genet A. 2010 Nov;152A(11):2727-30. doi: 10.1002/ajmg.a.33545. Am J Med Genet A. 2010. PMID: 20949603

6

Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion.

Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB. Aldinger KA, et al. Am J Med Genet A. 2013 Jan;161A(1):131-6. doi: 10.1002/ajmg.a.35700. Epub 2012 Dec 7. Am J Med Genet A. 2013. PMID: 23225497 Free PMC article.

7

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.

Aldinger KA, Mendelsohn NJ, Chung BH, Zhang W, Cohn DH, Fernandez B, Alkuraya FS, Dobyns WB, Curry CJ. Aldinger KA, et al. J Med Genet. 2016 Jun;53(6):427-30. doi: 10.1136/jmedgenet-2015-103476. Epub 2015 Dec 15. J Med Genet. 2016. PMID: 26671912 Free PMC article. No abstract available.

8

A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.

Gripp KW, Aldinger KA, Bennett JT, Baker L, Tusi J, Powell-Hamilton N, Stabley D, Sol-Church K, Timms AE, Dobyns WB. Gripp KW, et al. Among authors: aldinger ka. Am J Med Genet A. 2016 Sep;170(9):2237-47. doi: 10.1002/ajmg.a.37781. Epub 2016 Jun 5. Am J Med Genet A. 2016. PMID: 27264673 Free PMC article.

9

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.

Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN. Di Donato N, et al. Among authors: aldinger ka. Am J Hum Genet. 2016 Nov 3;99(5):1117-1129. doi: 10.1016/j.ajhg.2016.09.010. Epub 2016 Oct 20. Am J Hum Genet. 2016. PMID: 27773430 Free PMC article.

10

Phenotypic outcomes in Mouse and Human Foxc1 dependent Dandy-Walker cerebellar malformation suggest shared mechanisms.

Haldipur P, Dang D, Aldinger KA, Janson OK, Guimiot F, Adle-Biasette H, Dobyns WB, Siebert JR, Russo R, Millen KJ. Haldipur P, et al. Among authors: aldinger ka. Elife. 2017 Jan 16;6:e20898. doi: 10.7554/eLife.20898. Elife. 2017. PMID: 28092268 Free PMC article.

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