Found: 51
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Factors associated with health-related quality of life (HRQOL) in adults with short stature skeletal dysplasias.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Local vs Central Institutional Review Boards for Multicenter Studies—Reply.
- Published in:
- 2003
- By:
- Publication type:
- Letter
Problematic variation in local institutional review of a multicenter genetic epidemiology study.
- Published in:
- 2003
- By:
- Publication type:
- journal article
Achondroplasia Natural History Study (CLARITY): 60-year experience with hydrocephalus in achondroplasia from four skeletal dysplasia centers.
- Published in:
- Journal of Neurosurgery: Pediatrics, 2023, v. 32, n. 6, p. 649, doi. 10.3171/2023.7.PEDS2354
- By:
- Publication type:
- Article
Achondroplasia Natural History Study (CLARITY): 60-year experience in cervicomedullary decompression in achondroplasia from four skeletal dysplasia centers.
- Published in:
- Journal of Neurosurgery: Pediatrics, 2021, v. 28, n. 2, p. 229, doi. 10.3171/2020.12.PEDS20715
- By:
- Publication type:
- Article
High-Dose Glucocorticoid Therapy in the Management of Seizures in Neonatal Incontinentia Pigmenti: A Case Report.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 1, p. 100, doi. 10.1177/0883073813517509
- By:
- Publication type:
- Article
Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening.
- Published in:
- Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 1, p. 1, doi. 10.1002/mgg3.2056
- By:
- Publication type:
- Article
Experiences of children and adolescents living with achondroplasia and their caregivers.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 4, p. 1, doi. 10.1002/mgg3.1891
- By:
- Publication type:
- Article
The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Description of 14 new affected individuals and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1261, doi. 10.1002/ajmg.a.63142
- By:
- Publication type:
- Article
CLARITY: Co-occurrences in achondroplasia—craniosynostosis, seizures, and decreased risk of diabetes mellitus.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1168, doi. 10.1002/ajmg.a.62096
- By:
- Publication type:
- Article
Blood pressure in adults with short stature skeletal dysplasias.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 150, doi. 10.1002/ajmg.a.61402
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- Publication type:
- Article
Prenatal diagnosis of Desbuquois dysplasia Type 1: Utilization of high‐density SNP array to map homozygosity and identify the gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2490, doi. 10.1002/ajmg.a.61372
- By:
- Publication type:
- Article
Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 3, p. 410, doi. 10.1002/ajmg.a.61037
- By:
- Publication type:
- Article
Multicenter study of mortality in achondroplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2359, doi. 10.1002/ajmg.a.40528
- By:
- Publication type:
- Article
Best practices in peri-operative management of patients with skeletal dysplasias.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2584, doi. 10.1002/ajmg.a.38357
- By:
- Publication type:
- Article
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2763, doi. 10.1002/ajmg.a.38375
- By:
- Publication type:
- Article
A height-for-age growth reference for children with achondroplasia: Expanded applications and comparison with original reference data.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1226, doi. 10.1002/ajmg.a.38150
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- Publication type:
- Article
The society for craniofacial genetics and developmental biology 38th annual meeting.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 7, p. 1732, doi. 10.1002/ajmg.a.37651
- By:
- Publication type:
- Article
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?'.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1101, doi. 10.1002/ajmg.a.37546
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- Publication type:
- Article
Best Practices in the Evaluation and Treatment of Foramen Magnum Stenosis in Achondroplasia during Infancy.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 42, doi. 10.1002/ajmg.a.37394
- By:
- Publication type:
- Article
Genotype-Phenotype Correlation of Congenital Anomalies in Multiple Congenital Anomalies Hypotonia Seizures Syndrome (MCAHS1)/PIGN-Related Epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 77, doi. 10.1002/ajmg.a.37369
- By:
- Publication type:
- Article
An anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor ( LBR) gene mutations: Further definition of the phenotypic heterogeneity of LBR-bone dysplasias.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 159, doi. 10.1002/ajmg.a.36808
- By:
- Publication type:
- Article
Body mass index (BMI): The case for condition-specific cut-offs for overweight and obesity in skeletal dysplasias.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 8, p. 2110, doi. 10.1002/ajmg.a.35947
- By:
- Publication type:
- Article
Normative growth charts for individuals with Costello syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 11, p. 2692, doi. 10.1002/ajmg.a.35534
- By:
- Publication type:
- Article
Hearing loss in skeletal dysplasia patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1551, doi. 10.1002/ajmg.a.35373
- By:
- Publication type:
- Article
Postnatal Progressive Craniosynostosis in Syndromic Conditions: Two Patients With Saethre-Chotzen Due to TWIST1 Gene Deletions and Review of the Literature.
- Published in:
- Cleft Palate Craniofacial Journal, 2023, v. 60, n. 8, p. 1021, doi. 10.1177/10556656221090844
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- Publication type:
- Article
Mapping the Relationship between Dysmorphology and Cognitive, Behavioral, and Developmental Outcomes in Children with Autism Spectrum Disorder.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2020, v. 13, n. 7, p. 1227, doi. 10.1002/aur.2314
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- Publication type:
- Article
A Novel Approach to Dysmorphology to Enhance the Phenotypic Classification of Autism Spectrum Disorder in the Study to Explore Early Development.
- Published in:
- Journal of Autism & Developmental Disorders, 2019, v. 49, n. 5, p. 2184, doi. 10.1007/s10803-019-03899-0
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- Publication type:
- Article
Associations Between the 2nd to 4th Digit Ratio and Autism Spectrum Disorder in Population-Based Samples of Boys and Girls: Findings from the Study to Explore Early Development.
- Published in:
- Journal of Autism & Developmental Disorders, 2018, v. 48, n. 7, p. 2379, doi. 10.1007/s10803-018-3495-z
- By:
- Publication type:
- Article
Genomic analysis of partial 21q monosomies with variable phenotypes.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 235, doi. 10.1038/ejhg.2010.150
- By:
- Publication type:
- Article
Achondroplasia natural history study (CLARITY): 60-year experience in orthopedic surgery from four skeletal dysplasia centers.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02738-x
- By:
- Publication type:
- Article
Otolaryngology Utilization in Patients With Achondroplasia: Results From the CLARITY Study.
- Published in:
- Laryngoscope, 2022, v. 132, n. 8, p. 1548, doi. 10.1002/lary.29915
- By:
- Publication type:
- Article
Oligodontia and skeletal anomalies in a young boy.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Prevalence of Hearing Loss and Hearing Aid Use Among US Medicare Beneficiaries Aged 71 Years and Older.
- Published in:
- JAMA Network Open, 2023, v. 6, n. 7, p. e2326320, doi. 10.1001/jamanetworkopen.2023.26320
- By:
- Publication type:
- Article
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.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.
- Published in:
- Nature Communications, 2014, v. 5, n. 7, p. 4483, doi. 10.1038/ncomms5483
- By:
- Publication type:
- Article
Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Best practice guidelines for management of spinal disorders in skeletal dysplasia.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Heritability of Lung Disease Severity in Cystic Fibrosis.
- Published in:
- American Journal of Respiratory & Critical Care Medicine, 2007, v. 175, n. 10, p. 1036, doi. 10.1164/rccm.200608-1164OC
- By:
- Publication type:
- Article
A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABA<sub>A</sub>-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome.
- Published in:
- Journal of Neurodevelopmental Disorders, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s11689-022-09418-0
- By:
- Publication type:
- Article
Skeletal Dysplasias: Growing Therapy for Growing Bones.
- Published in:
- Frontiers in Pharmacology, 2017, v. 8, p. 1, doi. 10.3389/fphar.2017.00079
- By:
- Publication type:
- Article
Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model.
- Published in:
- Clinical Pharmacokinetics, 2024, v. 63, n. 5, p. 707, doi. 10.1007/s40262-024-01371-6
- By:
- Publication type:
- Article
Pharmacokinetics and Exposure–Response of Vosoritide in Children with Achondroplasia.
- Published in:
- Clinical Pharmacokinetics, 2022, v. 61, n. 2, p. 263, doi. 10.1007/s40262-021-01059-1
- By:
- Publication type:
- Article
Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 6, p. 1, doi. 10.1371/journal.pgen.1000991
- By:
- Publication type:
- Article
Pheno DB: A New Web-Based Tool for the Collection, Storage, and Analysis of Phenotypic Features.
- Published in:
- Human Mutation, 2013, v. 34, n. 4, p. 566, doi. 10.1002/humu.22283
- By:
- Publication type:
- Article
Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.
- Published in:
- Human Mutation, 2009, v. 30, n. 3, p. 379, doi. 10.1002/humu.20868
- By:
- Publication type:
- Article
Overview: referrals for genetic evaluation from child psychiatrists.
- Published in:
- Child & Adolescent Psychiatry & Mental Health, 2016, v. 10, p. 1, doi. 10.1186/s13034-016-0095-6
- By:
- Publication type:
- Article
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.
- Published in:
- Advances in Therapy, 2024, v. 41, n. 1, p. 198, doi. 10.1007/s12325-023-02705-9
- By:
- Publication type:
- Article
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
- Published in:
- PLoS Genetics, 2022, v. 18, n. 12, p. 1, doi. 10.1371/journal.pgen.1010504
- By:
- Publication type:
- Article