Lista de obras - Michael B Bober - Dominio Público Uruguay

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

Arthroscopic knee anatomy in young achondroplasia patients

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

CaGE: cardiac gene expression knowledgebase.

artículo científico publicado en 2002

Cartilage hair hypoplasia: characteristics and orthopaedic manifestations

artículo científico publicado en 2015

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

artículo científico

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

artículo científico publicado en 2015

Chondrodysplasia Punctata 1, X-Linked

artículo científico publicado en 2014

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

artículo científico publicado en 2008

Congenital heart defects common in rhizomelic chondrodysplasia punctata

artículo científico publicado en 2015

Developing computational resources in cardiac gene expression

artículo científico publicado en 2007

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

artículo científico publicado en 2015

Enzyme-replacement therapy in life-threatening hypophosphatasia.

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 2017

Extreme growth failure is a common presentation of ligase IV deficiency

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2018

Growth charts for individuals with rhizomelic chondrodysplasia punctata

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Hip pathology in Majewski osteodysplastic primordial dwarfism type II.

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata.

artículo científico publicado en 2008

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

artículo científico publicado en 2012

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

article

Metatropic dysplasia is associated with increased fracture risk

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review

artículo científico publicado en 2017

Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels ⬇️

artículo científico publicado el 26 de junio de 2013

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2019

Non-invasive pulmonary function test on Morquio patients

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2019

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

artículo científico publicado en 2017

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?"

artículo científico publicado en 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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2002

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

artículo científico publicado en 2017

The lower extremity in Morquio syndrome.

artículo científico publicado en 2012

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

artículo científico publicado en 2017

point mutations and familial intracranial aneurysms

scientific article published on 09 November 2018

Lista de obras de 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

Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels ⬇️

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