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Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice; Advances in Therapy; (2024).

The patient clinical journey and socioeconomic impact of osteogenesis imperfecta: a systematic scoping review.; Orphanet journal of rare diseases; (2023).

RNU4atac-opathy; Unknown Source; (2023).

Route of Delivery Does Not Impact Postnatal Surgical Morbidity in Pregnancies Affected By Fetal Achondroplasia.; Genetics in medicine : official journal of the American College of Medical Genetics; (2023).

Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study.; Anesthesia and analgesia; (2023).

Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers.; Orphanet journal of rare diseases; (2023).

A qualitative exploration of patient perspectives on psychosocial burdens and positive factors in adults with osteogenesis imperfecta.; American journal of medical genetics. Part A; (2023).

Identification of potential non-invasive biomarkers in diastrophic dysplasia.; Bone; (2023).

Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers.; Journal of neurosurgery. Pediatrics; (2023).

RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation.; American journal of human genetics; (2023).

Once-weekly TransCon CNP (navepegritide) in children with achondroplasia (ACcomplisH): a phase 2, multicentre, randomised, double-blind, placebo-controlled, dose-escalation trial.; EClinicalMedicine; (2023).

Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.; The Lancet. Child & adolescent health; (2023).

Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.; Nature communications; (2023).

Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia; JBMR Plus; (2023).

Overlapping and Distinct Features of Cardiac Pathology in Inherited Human and Murine Ether Lipid Deficiency; International Journal of Molecular Sciences; (2023).

Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III; Journal of Clinical Immunology; (2023).

Cranio-cervical abnormalities in moderate-to-severe osteogenesis imperfecta - Genotypic and phenotypic determinants.; Orthodontics & craniofacial research; (2023).

Microcephalic Osteodysplastic Primordial Dwarfism Type II; Unknown Source; (2022).

Multicenter Series of Deformity Correction Using Guided Growth in the Setting of Osteogenesis Imperfecta.; Journal of pediatric orthopedics; (2022).

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.; Therapeutic advances in musculoskeletal disease; (2022).

Collagen X Marker Levels are Decreased in Individuals with Achondroplasia.; Calcified tissue international; (2022).

Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa.; Molecular genetics and metabolism; (2022).

A multicenter study to evaluate pain characteristics in osteogenesis imperfecta.; American journal of medical genetics. Part A; (2022).

Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.; Genetics in medicine : official journal of the American College of Medical Genetics; (2022).

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.; Nature reviews. Endocrinology; (2021).

Achondroplasia Natural History Study (CLARITY): 60-year experience in cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers.; Journal of neurosurgery. Pediatrics; (2021).

Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.; Genetics in medicine : official journal of the American College of Medical Genetics; (2021).

Long-term vascular access for infants with moderate to severe osteogenesis imperfecta.; Pediatric surgery international; (2021).

Growth in Achondroplasia Including Stature, Weight, Weight-for-Height and Head Circumference from CLARITY: Achondroplasia Natural History Study— A Multi-Center Retrospective Cohort Study of Achondroplasia in the US; Unknown Source; (2021).

Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study.; The Laryngoscope; (2021).

Multidisciplinary Care of Neurosurgical Patients with Genetic Syndromes.; Neurosurgery clinics of North America; (2021).

Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease; Orphanet Journal of Rare Diseases; (2021).

Missing and unerupted teeth in osteogenesis imperfecta.; Bone; (2021).

Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States.; Genetics in medicine : official journal of the American College of Medical Genetics; (2021).

Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study.; Bone; (2021).

Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study-a multi-center retrospective cohort study of achondroplasia in the US.; Orphanet journal of rare diseases; (2021).

Comprehensive pain management strategy for infants with moderate to severe osteogenesis imperfecta in the perinatal period; Paediatric and Neonatal Pain; (2021).

Alterations of a serum marker of collagen X in growing children with osteogenesis imperfecta.; Bone; (2021).

Persistent and Stable Growth Promoting Effects of Vosoritide in Children With Achondroplasia for up to 2 Years: Results From the Ongoing Phase 3 Extension Study; Journal of the Endocrine Society; (2021).

CLARITY: Co-occurrences in achondroplasia-craniosynostosis, seizures, and decreased risk of diabetes mellitus.; American journal of medical genetics. Part A; (2021).

Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia.; Orphanet journal of rare diseases; (2021).

Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia; Unknown Source; (2021).

Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography.; Pediatric radiology; (2021).

Health-related quality of life in adults with osteogenesis imperfecta.; Clinical genetics; (2021).

Should We Stop Calling Thanatophoric Dysplasia a Lethal Condition? A Case Report of a Long-Term Survivor.; Palliative medicine reports; (2020).

SAT-LB18 A Randomized Controlled Trial of Vosoritide in Children With Achondroplasia; Journal of the Endocrine Society; (2020).

Best practice guidelines for management of spinal disorders in skeletal dysplasia; Unknown Source; (2020).

Best practice guidelines for management of spinal disorders in skeletal dysplasia.; Orphanet journal of rare diseases; (2020).

Malocclusion traits and oral health-related quality of life in children with osteogenesis imperfecta: A cross-sectional study.; Journal of the American Dental Association (1939); (2020).

Growth in individuals with Saul-Wilson syndrome.; American journal of medical genetics. Part A; (2020).

A Multicenter Study of Intramedullary Rodding in Osteogenesis Imperfecta. ; JB & JS open access; (2020).

Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.; Lancet (London, England); (2020).

Case Report: Safety and Efficacy of Denosumab in Four Children With Noonan Syndrome With Multiple Giant Cell Lesions of the Jaw.; Frontiers in pediatrics; (2020).

Rhizomelic chondrodysplasia punctata morbidity and mortality, an update; American Journal of Medical Genetics Part A; (2020).

Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5.; Bone reports; (2020).

Rhizomelic Chondrodysplasia Punctata Type 1; Unknown Source; (2020).

Defining the clinical phenotype of Saul-Wilson syndrome.; Genetics in medicine : official journal of the American College of Medical Genetics; (2020).

Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders.; Genetics in medicine : official journal of the American College of Medical Genetics; (2019).

Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study.; Orphanet journal of rare diseases; (2019).

A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta.; JBMR plus; (2019).

Mobility in osteogenesis imperfecta: a multicenter North American study.; Genetics in medicine : official journal of the American College of Medical Genetics; (2019).

Biallelic variants in DNA2 cause microcephalic primordial dwarfism.; Human mutation; (2019).

Prevalence of mental health conditions and pain in adults with skeletal dysplasia; Quality of Life Research; (2019).

NOVEL <i>XRCC4</i> MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF <i>XRCC4</i> MUTATIONS.; AACE clinical case reports; (2019).

New insights into minor splicing—a transcriptomic analysis of cells derived from TALS patients; RNA; (2019).

Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta.; Genetics in medicine : official journal of the American College of Medical Genetics; (2019).

Blood pressure in adults with short stature skeletal dysplasias.; American journal of medical genetics. Part A; (2019).

Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.; American journal of medical genetics. Part A; (2019).

DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.; American journal of human genetics; (2018).

<i>PCNT</i> point mutations and familial intracranial aneurysms.; Neurology; (2018).

Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V.; European journal of medical genetics; (2018).

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.; American journal of human genetics; (2018).

Multicenter study of mortality in achondroplasia.; American journal of medical genetics. Part A; (2018).

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.; American journal of human genetics; (2018).

Oral health-related quality of life in children and adolescents with osteogenesis imperfecta: cross-sectional study.; Orphanet journal of rare diseases; (2018).

A moderate form of osteogenesis imperfecta caused by compound heterozygous <i>LEPRE1</i> mutations.; Bone reports; (2018).

Mobility in Osteogenesis Imperfecta: A Multicenter North American Study; Unknown Source; (2018).

The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome; American journal of medical genetics. Part A; (2018).

Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study; Genetics in medicine : official journal of the American College of Medical Genetics; (2018).

Best Practice Guidelines regarding Prenatal Evaluation and Delivery of Patients with Skeletal Dysplasia; American journal of obstetrics and gynecology; (2018).

Dental and facial characteristics of osteogenesis imperfecta type V; Unknown Source; (2018).

A multicenter study to evaluate pulmonary function in osteogenesis imperfecta.; Clinical genetics; (2018).

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.; Current osteoporosis reports; (2017).

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.; Nature genetics; (2017).

Corrigendum: Mutations in genes encoding condensins cause microcephaly through decatenation failure at mitosis.; Genes & development; (2017).

Re-alignment and intramedullary rodding of the humerus and forearm in children with osteogenesis imperfecta: revision rate and effect on fracture rate.; Journal of children's orthopaedics; (2017).

Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns.; Paediatric anaesthesia; (2017).

Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata.; Journal of pediatric orthopedics; (2017).

Arthroscopic knee anatomy in young achondroplasia patients.; Journal of children's orthopaedics; (2017).

Erratum to: Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.; Current osteoporosis reports; (2017).

Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II.; American journal of medical genetics. Part A; (2017).

Best practices in peri-operative management of patients with skeletal dysplasias.; American journal of medical genetics. Part A; (2017).

Aneurysmal bone cysts and pathologic fracture associated with supernumerary ring chromosome 6 in two unrelated patients; American Journal of Medical Genetics Part A; (2017).

Growth charts for individuals with rhizomelic chondrodysplasia punctata.; Unknown Source; (2017).

Valgus Hip Osteotomy in Children With Spondyloepiphyseal Dysplasia Congenita: Midterm Results.; Unknown Source; (2017).

Arthroscopic Treatment of Discoid Lateral Meniscus Tears in Children With Achondroplasia.; Unknown Source; (2016).

Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies.; Unknown Source; (2016).

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?".; Unknown Source; (2016).

Metatropic dysplasia is associated with increased fracture risk.; Unknown Source; (2016).

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.; Unknown Source; (2016).

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.; Unknown Source; (2016).

Magnetic resonance evaluation of the knee in children and adolescents with achondroplasia.; Unknown Source; (2015).

Non-invasive pulmonary function test on Morquio patients.; Unknown Source; (2015).

Congenital heart defects common in rhizomelic chondrodysplasia punctata.; Unknown Source; (2015).

Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy.; Unknown Source; (2015).

Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta.; Unknown Source; (2015).

A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.; Unknown Source; (2015).

Obstructive airway in Morquio A syndrome, the past, the present and the future.; Unknown Source; (2015).

Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations.; Unknown Source; (2015).

Cartilage hair hypoplasia: characteristics and orthopaedic manifestations.; Unknown Source; (2015).

C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia.; Unknown Source; (2015).

Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.; Unknown Source; (2015).

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.; Unknown Source; (2015).

Extreme growth failure is a common presentation of ligase IV deficiency.; Unknown Source; (2014).

Cervicothoracic myelopathy in children with Morquio syndrome A: a report of 4 cases.; Unknown Source; (2014).

Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis.; Unknown Source; (2014).

0041 Cross-sectional Multicenter Study of Osteogenesis Imperfecta in North America - Results from the Linked Clinical Research Centers.; Unknown Source; (2014).

Surgical treatment of scoliosis in osteogenesis imperfecta with cement-augmented pedicle screw instrumentation.; Unknown Source; (2014).

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.; Unknown Source; (2014).

Hip pathology in Majewski osteodysplastic primordial dwarfism type II.; Unknown Source; (2014).

A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation.; Unknown Source; (2014).

Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.; Unknown Source; (2013).

Flexion-extension cervical spine MRI in children with skeletal dysplasia: is it safe and effective?; Unknown Source; (2013).

Growth-sparing spinal instrumentation in skeletal dysplasia.; Unknown Source; (2013).

Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.; Unknown Source; (2012).

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis.; Unknown Source; (2012).

The lower extremity in Morquio syndrome.; Unknown Source; (2012).

Enzyme-replacement therapy in life-threatening hypophosphatasia.; Unknown Source; (2012).

A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay.; Unknown Source; (2012).

Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy.; Unknown Source; (2012).

Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy.; Unknown Source; (2012).

Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder.; Unknown Source; (2012).

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.; Unknown Source; (2011).

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes.; Unknown Source; (2011).

Mutations in the pre-replication complex cause Meier-Gorlin syndrome.; Unknown Source; (2011).

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.; Unknown Source; (2011).

Maternal mixed connective tissue disease and offspring with chondrodysplasia punctata.; Unknown Source; (2010).

Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.; Unknown Source; (2010).

Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.; Unknown Source; (2010).

Expanding the phenotype of SPONASTRIME dysplasia to include short dental roots, hypogammaglobulinemia, and cataracts.; Unknown Source; (2008).

Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.; Unknown Source; (2008).

Scott sign: a clinical measure of ligamentous laxity in achondroplastic infants.; Unknown Source; (2008).

Developing computational resources in cardiac gene expression.; Unknown Source; (2007).

The effect of intravenous pamidronate on bone mineral density, bone histomorphometry, and parameters of bone turnover in adults with type IA osteogenesis imperfecta.; Unknown Source; (2003).

CaGE: cardiac gene expression knowledgebase.; Unknown Source; (2002).

Chondrodysplasia Punctata 1, X-Linked; Unknown Source; (0000).

Hypochondroplasia; Unknown Source; (0000).