List of works - Michael B Bober

A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers.

scientific article published on 30 May 2014

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

scientific article published on 6 August 2015

A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.

scientific article published on 18 June 2012

A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation

scientific journal article

Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy

scientific article published on 07 August 2012

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

scientific article published on 28 October 2017

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

scientific article

Arthroscopic knee anatomy in young achondroplasia patients

scientific article

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

scientific article

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

scientific article published on 23 July 2018

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

scientific article published on 01 August 2017

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

scientific article published on 23 September 2015

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

scientific article

CaGE: cardiac gene expression knowledgebase.

scientific article

Cartilage hair hypoplasia: characteristics and orthopaedic manifestations

scientific article published on 13 March 2015

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

scientific article published on March 2014

Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta

scientific article published on October 2015

Chondrodysplasia Punctata 1, X-Linked

scientific article published on 20 November 2014

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

scientific article

Congenital heart defects common in rhizomelic chondrodysplasia punctata.

scientific article published on 26 September 2015

Developing computational resources in cardiac gene expression

scientific article published in January 2007

Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations.

scientific article published on 29 October 2015

Enzyme-replacement therapy in life-threatening hypophosphatasia.

scientific article published in March 2012

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

scientific article published on 01 August 2017

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

scientific article published on 01 February 2008

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

scientific article

Extreme growth failure is a common presentation of ligase IV deficiency

scientific article

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

scientific article published on January 2013

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

scientific article

Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study

scientific article published on 04 July 2018

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

scientific article

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

scientific article published on 20 July 2012

Growth-sparing spinal instrumentation in skeletal dysplasia

scientific article published on 01 November 2013

Hip pathology in Majewski osteodysplastic primordial dwarfism type II.

scientific article published on September 2014

Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.

scientific article

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

scientific article published on 14 November 2013

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

scientific article published on 23 January 2014

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

scientific article published on 29 November 2014

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

scientific article published on 01 April 2010

Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata.

scientific article

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

scientific article

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

article

Metatropic dysplasia is associated with increased fracture risk

scientific article published on 29 January 2016

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

scientific article

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

scientific article (publication date: April 2017)

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

scientific article published on 13 February 2017

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

scientific article published on 27 February 2011

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

scientific article

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

scientific article

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients

scientific article published on 07 June 2019

Non-invasive pulmonary function test on Morquio patients

scientific article

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

scientific article published on 21 September 2015

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

scientific article published on 14 January 2019

Re-alignment and intramedullary rodding of the humerus and forearm in children with osteogenesis imperfecta: revision rate and effect on fracture rate.

scientific article

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

scientific article published on 10 February 2012

Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?"

scientific article published on 11 January 2016

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update

scientific article published on 25 November 2019

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

scientific article published on 01 September 2008

Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies

scientific article published on 9 September 2016

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

scientific article published in May 2014

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

scientific article

The effect of intravenous pamidronate on bone mineral density, bone histomorphometry, and parameters of bone turnover in adults with type IA osteogenesis imperfecta.

scientific article published on 4 December 2002

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

scientific article published on 19 December 2017

The lower extremity in Morquio syndrome.

scientific article published on July 2012

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

scientific article

point mutations and familial intracranial aneurysms

scientific article published on 09 November 2018

List of works by Michael B Bober

A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers.

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

A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.

A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation

Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy

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

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

Arthroscopic knee anatomy in young achondroplasia patients

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA

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

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

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

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

CaGE: cardiac gene expression knowledgebase.

Cartilage hair hypoplasia: characteristics and orthopaedic manifestations

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

Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta

Chondrodysplasia Punctata 1, X-Linked

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

Congenital heart defects common in rhizomelic chondrodysplasia punctata.

Developing computational resources in cardiac gene expression

Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations.

Enzyme-replacement therapy in life-threatening hypophosphatasia.

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

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

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

Extreme growth failure is a common presentation of ligase IV deficiency

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

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes

Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study

Growth charts for individuals with rhizomelic chondrodysplasia punctata.

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

Growth-sparing spinal instrumentation in skeletal dysplasia

Hip pathology in Majewski osteodysplastic primordial dwarfism type II.

Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

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

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

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

Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata.

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

Metatropic dysplasia is associated with increased fracture risk

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

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis

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

New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients

Non-invasive pulmonary function test on Morquio patients

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

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

Re-alignment and intramedullary rodding of the humerus and forearm in children with osteogenesis imperfecta: revision rate and effect on fracture rate.

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

Response: "Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy" and "Is there a correlation between sleep disordered breathing and foramen magnum stenosis in children with achondroplasia?"

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update

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

Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies

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

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism

The effect of intravenous pamidronate on bone mineral density, bone histomorphometry, and parameters of bone turnover in adults with type IA osteogenesis imperfecta.

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

The lower extremity in Morquio syndrome.

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

point mutations and familial intracranial aneurysms