Michael B Bober

Michael B Bober

UNVERIFIED PROFILE

Are you Michael B Bober?   Register this Author

Register author
Michael B Bober

Michael B Bober

Publications by authors named "Michael B Bober"

Are you Michael B Bober?   Register this Author

64Publications

2276Reads

26Profile Views

Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.

J Pediatr Orthop 2019 Oct;39(9):e680-e686

Department of Orthopedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/BPO.0000000000001014DOI Listing
October 2019

Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders.

Genet Med 2019 Sep 30;21(9):2070-2080. Epub 2019 Jan 30.

Department of Orthopedics and Sports Medicine, Seattle Children's Hospital, University of Washington, Seattle, WA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0446-9DOI Listing
September 2019

Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

Hum Mutat 2019 Aug 23;40(8):1063-1070. Epub 2019 Jun 23.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.

View Article

Download full-text PDF

Source
https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23776
Publisher Site
http://dx.doi.org/10.1002/humu.23776DOI Listing
August 2019

Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results.

J Pediatr Orthop 2019 Jul;39(6):282-288

Department of Orthopedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/BPO.0000000000000945DOI Listing
July 2019

Prevalence of mental health conditions and pain in adults with skeletal dysplasia.

Qual Life Res 2019 Jun 14;28(6):1457-1464. Epub 2019 Jan 14.

Division of Orthogenetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11136-019-02102-2DOI Listing
June 2019

Best practice guidelines regarding prenatal evaluation and delivery of patients with skeletal dysplasia.

Am J Obstet Gynecol 2018 12 23;219(6):545-562. Epub 2018 Jul 23.

Department of Orthopedics and Sports Medicine, Seattle Children's Hospital, Seattle, WA; Department of Orthopedics and Sports Medicine, University of Washington, Seattle, WA.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029378183059
Publisher Site
http://dx.doi.org/10.1016/j.ajog.2018.07.017DOI Listing
December 2018

A moderate form of osteogenesis imperfecta caused by compound heterozygous mutations.

Bone Rep 2018 Dec 15;9:132-135. Epub 2018 Sep 15.

Division of Genetics, Department of Pediatrics, Alfred I. duPont Hospital for, Children, Wilmington, DE, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bonr.2018.09.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146588PMC
December 2018

point mutations and familial intracranial aneurysms.

Neurology 2018 12 9;91(23):e2170-e2181. Epub 2018 Nov 9.

From the Department of Neuroscience (O.L.-B., C.L., K.H., P.G., A.I.S., R.L.W., O.A.R.), Center for Individualized Medicine (P.R.B., J.M.), Department of Health Sciences Research (P.R.B., Y.A.), Department of Neurology (E.E., R.V.-d-C., W.D.F., J.M.), Clinical Research Internship Study Program (P.G.), Department of Neurosurgery (D.M., W.D.F.), and Department of Clinical Genomics (O.A.R.), Mayo Clinic, Jacksonville, FL; Center for Individualized Medicine (E.W.K.), Department of Health Sciences Research (E.W.K.), Department of Laboratory Medicine and Pathology (E.W.K.), Department of Clinical Genomics (E.W.K.), and Department of Biochemistry and Molecular Biology (A.N.S., K.J.C.), Mayo Clinic, Rochester, MN; Department of Biology (K.H., O.A.R.), Basic Research Internship in Neuroscience and Cancer, University of North Florida, Jacksonville; Program in Molecular Medicine (S.D.), University of Massachusetts Medical School, Worcester; Division of Genetics (M.B.B.), Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE; and Section of Clinical Genetics & Genetic Counseling (S.J.), St. Christopher's Hospital for Children, Philadelphia, PA.

View Article

Download full-text PDF

Source
http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000006614DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282233PMC
December 2018

Multicenter study of mortality in achondroplasia.

Am J Med Genet A 2018 11 1;176(11):2359-2364. Epub 2018 Oct 1.

Department of Pediatrics, McGovern Medical School at UTHealth, Houston, Texas.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.40528
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.40528DOI Listing
November 2018

Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients.

Am J Med Genet A 2017 Dec 28;173(12):3205-3210. Epub 2017 Oct 28.

Division of Medical Genetics, Nemours-Alfred I. duPont Hospital for Children, Wilmington, Delaware.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38498DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5687301PMC
December 2017

Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II.

Am J Med Genet A 2017 11 22;173(11):3067-3069. Epub 2017 Sep 22.

Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38467DOI Listing
November 2017

Best practices in peri-operative management of patients with skeletal dysplasias.

Am J Med Genet A 2017 Oct 1;173(10):2584-2595. Epub 2017 Aug 1.

Department of Anesthesia, Nemour's Alfred I du Pont Hospital for Children, Wilmington, Delaware.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38357DOI Listing
October 2017

Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.

Curr Osteoporos Rep 2017 08;15(4):399

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11914-017-0389-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6728284PMC
August 2017

Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns.

Paediatr Anaesth 2017 Jun 21;27(6):596-603. Epub 2017 Mar 21.

Department of Nursing, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/pan.13101DOI Listing
June 2017

Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.

J Pediatr Orthop 2017 Jun 13. Epub 2017 Jun 13.

Department of Orthopedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/BPO.0000000000001014DOI Listing
June 2017

Arthroscopic Treatment of Discoid Lateral Meniscus Tears in Children With Achondroplasia.

J Pediatr Orthop 2016 Jul-Aug;36(5):e55-8

Department of Orthopaedic Surgery, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/BPO.0000000000000622DOI Listing
April 2017

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.

Curr Osteoporos Rep 2017 04;15(2):61-69

MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, EH4 2XU, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11914-017-0348-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5561166PMC
April 2017

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

Am J Med Genet A 2017 Jan 12;173(1):108-113. Epub 2016 Sep 12.

Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37961DOI Listing
January 2017

Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results.

J Pediatr Orthop 2017 Jan 30. Epub 2017 Jan 30.

Department of Orthopedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/BPO.0000000000000945DOI Listing
January 2017

Metatropic dysplasia is associated with increased fracture risk.

Am J Med Genet A 2016 May 29;170A(5):1373-6. Epub 2016 Jan 29.

Department of Orthopaedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37576DOI Listing
May 2016

Obstructive airway in Morquio A syndrome, the past, the present and the future.

Mol Genet Metab 2016 Feb 21;117(2):150-6. Epub 2015 Sep 21.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2015.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4755902PMC
February 2016

Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy.

Am J Med Genet A 2016 Jan 23;170A(1):42-51. Epub 2015 Sep 23.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, University of Melbourne, Parkville, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37394DOI Listing
January 2016

Congenital heart defects common in rhizomelic chondrodysplasia punctata.

Am J Med Genet A 2016 Jan 26;170A(1):270-2. Epub 2015 Sep 26.

Division of Medical Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37404DOI Listing
January 2016

A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.

Am J Med Genet A 2015 Oct 6;167A(10):2286-93. Epub 2015 Aug 6.

Department of Biological Sciences, University of Delaware, Newark, Delaware.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37182DOI Listing
October 2015

Non-invasive pulmonary function test on Morquio patients.

Mol Genet Metab 2015 Aug 23;115(4):186-92. Epub 2015 Jun 23.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA; Center for Pediatric Lung Research, Nemours/Alfred I. DuPont Hospital for Children, Wilmington, DE, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2015.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4706533PMC
August 2015

Magnetic resonance evaluation of the knee in children and adolescents with achondroplasia.

Pediatr Radiol 2015 Jun 29;45(6):888-95. Epub 2014 Nov 29.

Department of Medical Imaging, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE, 19803-3607, USA.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007%2Fs00247-014-32
Web Search
http://link.springer.com/10.1007/s00247-014-3228-1
Publisher Site
http://dx.doi.org/10.1007/s00247-014-3228-1DOI Listing
June 2015

C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.

J Clin Endocrinol Metab 2015 Feb 11;100(2):E355-9. Epub 2014 Nov 11.

Nemours Children's Clinic (R.C.O.), Jacksonville, Florida 32207; University of Otago (T.C.R.P., E.A.E.), Christchurch 8011, New Zealand; Nemours/Alfred I. duPont Hospital for Children (W.G.M., A.L.D., C.D., M.B.B.), Wilmington, Delaware 19803; University Hospital Freiburg (B.Z.), 79106 Freiburg, Germany; Keio University School of Medicine (T.H.), Tokyo 108-8345, Japan; Nagoya University School of Medicine (H.K.), Nagoya 464-8601, Japan; and University of North Carolina (A.S.A.), Chapel Hill, North Carolina 27599-2100.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2014-2814DOI Listing
February 2015

Surgical treatment of scoliosis in osteogenesis imperfecta with cement-augmented pedicle screw instrumentation.

J Spinal Disord Tech 2014 May;27(3):174-80

*Department of Orthopaedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE †Shriners Hospital for Children, Philadelphia, PA ‡Department of Pediatrics, Division of Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/BSD.0b013e3182624b76DOI Listing
May 2014

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

Am J Med Genet A 2014 Apr 23;164A(4):1062-8. Epub 2014 Jan 23.

Department of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.36390
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36390DOI Listing
April 2014

Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.

Mol Genet Metab 2013 Sep-Oct;110(1-2):129-38. Epub 2013 Jun 26.

Department of Endocrinology, Metabolism & Genetics, Vietnam National Hospital of Pediatrics, Hanoi, Viet Nam.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2013.06.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3779837PMC
March 2014

Cervicothoracic myelopathy in children with Morquio syndrome A: a report of 4 cases.

J Pediatr Orthop 2014 Mar;34(2):223-8

Department of Orthopaedic Surgery, Alfred I duPont Hospital for Children, Wilmington, DE.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/BPO.0000000000000074DOI Listing
March 2014

Flexion-extension cervical spine MRI in children with skeletal dysplasia: is it safe and effective?

J Pediatr Orthop 2013 Jan;33(1):91-8

Department of Orthopaedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19889, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/BPO.0b013e318279c51fDOI Listing
January 2013

The lower extremity in Morquio syndrome.

J Pediatr Orthop 2012 Jul-Aug;32(5):534-40

Department of Orthopaedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/BPO.0b013e318259fe57DOI Listing
November 2012

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.

Am J Med Genet A 2012 Nov 20;158A(11):2719-25. Epub 2012 Jul 20.

Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware 19083, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35447DOI Listing
November 2012

Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy.

Pediatr Pulmonol 2012 Sep 10;47(9):917-22. Epub 2012 Feb 10.

Nemours Research Lung Center, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ppul.22527DOI Listing
September 2012

Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy.

Am J Med Genet A 2012 Sep 7;158A(9):2336-41. Epub 2012 Aug 7.

Division of Medical Genetics, Alfred I. duPont Hospital for Children, Wilmington, Delaware 19803, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.35530DOI Listing
September 2012

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

Am J Med Genet A 2010 Apr;152A(4):960-5

Division of Genetics, Department of Pediatrics, AI DuPont Hospital for Children, Wilmington, Delaware 19803, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33252DOI Listing
April 2010

Developing computational resources in cardiac gene expression.

Methods Mol Biol 2007 ;366:253-63

Division of Medical Genetics, A.I. DuPont Hospital for Children, Wilmington, DE, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-1-59745-030-0_14DOI Listing
July 2007