Michael Bober
Overview
Explore the profile of Michael Bober including associated specialties, affiliations and a list of published articles.
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Articles
12
Citations
416
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Recent Articles
1.
Hoover-Fong J, Alade A, Ain M, Berkowitz I, Bober M, Carter E, et al.
Am J Med Genet A
. 2019 Nov;
182(1):150-161.
PMID: 31729121
Hypertension, compounded by obesity, contributes to cardiovascular disease and mortality. Data describing hypertension prevalence in adults with short stature skeletal dysplasias are lacking, perhaps due to poor fit of typical...
2.
Farach L, Little M, Duker A, Logan C, Jackson A, Hecht J, et al.
Am J Med Genet A
. 2017 Dec;
176(2):465-469.
PMID: 29265708
RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and Roifman syndrome. Both conditions are clinically distinct skeletal dysplasias with microcephalic osteodysplastic primordial dwarfism,...
3.
Chen C, Hehnly H, Yu Q, Farkas D, Zheng G, Redick S, et al.
Curr Biol
. 2014 Sep;
24(19):2327-2334.
PMID: 25220058
Majewski osteodysplastic primordial dwarfism type II (MOPDII) is caused by mutations in the centrosome gene pericentrin (PCNT) that lead to severe pre- and postnatal growth retardation. As in MOPDII patients,...
4.
Karatas A, Dede O, Rogers K, Ditro C, Holmes L, Bober M, et al.
Spine (Phila Pa 1976)
. 2013 Aug;
38(24):E1517-26.
PMID: 23921322
Study Design: Retrospective case series. Objective: To report the outcomes of distraction-based, growth-sparing spinal instrumentation in patients with skeletal dysplasia. Summary Of Background Data: Patients with skeletal dysplasia with spinal...
5.
Bicknell L, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, et al.
Nat Genet
. 2011 Mar;
43(4):350-5.
PMID: 21358633
Studies into disorders of extreme growth failure (for example, Seckel syndrome and Majewski osteodysplastic primordial dwarfism type II) have implicated fundamental cellular processes of DNA damage response signaling and centrosome...
6.
Bicknell L, Bongers E, Leitch A, Brown S, Schoots J, Harley M, et al.
Nat Genet
. 2011 Mar;
43(4):356-9.
PMID: 21358632
Meier-Gorlin syndrome (ear, patella and short-stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly small ears¹⁻³. Both pre- and post-natal growth are...
7.
Huang-Doran I, Bicknell L, Finucane F, Rocha N, Porter K, Tung Y, et al.
Diabetes
. 2011 Jan;
60(3):925-35.
PMID: 21270239
Objective: Genetic defects in human pericentrin (PCNT), encoding the centrosomal protein pericentrin, cause a form of osteodysplastic primordial dwarfism that is sometimes reported to be associated with diabetes. We thus...
8.
Schulz S, Bober M, Johnson C, Braverman N, Jimenez S
Semin Arthritis Rheum
. 2008 Dec;
39(5):410-6.
PMID: 19110299
Objectives: To describe the case of a mother with mixed connective tissue disease (MCTD) whose male and female offspring from 2 successive pregnancies had chondrodysplasia punctata (CDP) in the absence...
9.
Bober M, Johnson C, Nicholson L, Scott Jr C
Am J Med Genet A
. 2008 Jul;
146A(17):2291-2.
PMID: 18666221
No abstract available.
10.
Nino M, Matos-Miranda C, Maeda M, Chen L, Allanson J, Armour C, et al.
Am J Med Genet A
. 2008 Mar;
146A(8):997-1008.
PMID: 18348268
X-linked Recessive Chondrodysplasia Punctata (CDPX1) is due to a defect in arylsulfatase E (ARSE), located on Xp22.3. Neither the substrate nor function of the encoded warfarin-sensitive arylsulfatase has been identified...