Bober MB - Search Results

1

Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.

Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA. Weaver KN, et al. Among authors: bober mb. Am J Med Genet A. 2014 Apr;164A(4):1062-8. doi: 10.1002/ajmg.a.36390. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458983

2

Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.

Nino M, Matos-Miranda C, Maeda M, Chen L, Allanson J, Armour C, Greene C, Kamaluddeen M, Rita D, Medne L, Zackai E, Mansour S, Superti-Furga A, Lewanda A, Bober M, Rosenbaum K, Braverman N. Nino M, et al. Am J Med Genet A. 2008 Apr 15;146A(8):997-1008. doi: 10.1002/ajmg.a.32159. Am J Med Genet A. 2008. PMID: 18348268

3

Congenital heart defects common in rhizomelic chondrodysplasia punctata.

Duker AL, Eldridge G, Braverman NE, Bober MB. Duker AL, et al. Among authors: bober mb. Am J Med Genet A. 2016 Jan;170A(1):270-2. doi: 10.1002/ajmg.a.37404. Epub 2015 Sep 26. Am J Med Genet A. 2016. PMID: 26408048 No abstract available.

4

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

Duker AL, Niiler T, Eldridge G, Brereton NH, Braverman NE, Bober MB. Duker AL, et al. Among authors: bober mb. Am J Med Genet A. 2017 Jan;173(1):108-113. doi: 10.1002/ajmg.a.37961. Epub 2016 Sep 12. Am J Med Genet A. 2017. PMID: 27616591

5

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.

Farach LS, Little ME, Duker AL, Logan CV, Jackson A, Hecht JT, Bober M. Farach LS, et al. Am J Med Genet A. 2018 Feb;176(2):465-469. doi: 10.1002/ajmg.a.38581. Epub 2017 Dec 19. Am J Med Genet A. 2018. PMID: 29265708 Free PMC article.

6

Growth in individuals with Saul-Wilson syndrome.

Ferreira CR, Niiler T, Duker AL, Jackson AP, Bober MB. Ferreira CR, et al. Among authors: bober mb. Am J Med Genet A. 2020 Sep;182(9):2110-2116. doi: 10.1002/ajmg.a.61754. Epub 2020 Jul 11. Am J Med Genet A. 2020. PMID: 32652690 Free PMC article.

7

Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.

Gripp KW, Johnson C, Scott CI Jr, Nicholson L, Bober M, Butler MG, Shaw L, Gorlin RJ. Gripp KW, et al. Am J Med Genet A. 2008 Feb 15;146A(4):468-73. doi: 10.1002/ajmg.a.32155. Am J Med Genet A. 2008. PMID: 18203204 Free PMC article. Review.

8

Scott sign: a clinical measure of ligamentous laxity in achondroplastic infants.

Bober M, Johnson C, Nicholson L, Scott C Jr. Bober M, et al. Am J Med Genet A. 2008 Sep 1;146A(17):2291-2. doi: 10.1002/ajmg.a.31977. Am J Med Genet A. 2008. PMID: 18666221 No abstract available.

9

Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.

Bober MB, Khan N, Kaplan J, Lewis K, Feinstein JA, Scott CI Jr, Steinberg GK. Bober MB, et al. Am J Med Genet A. 2010 Apr;152A(4):960-5. doi: 10.1002/ajmg.a.33252. Am J Med Genet A. 2010. PMID: 20358609

10

Mutations in the pre-replication complex cause Meier-Gorlin syndrome.

Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP. Bicknell LS, et al. Nat Genet. 2011 Feb 27;43(4):356-9. doi: 10.1038/ng.775. Nat Genet. 2011. PMID: 21358632 Free PMC article.

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