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Evidence of feedback regulation of C-type natriuretic peptide during Vosoritide therapy in Achondroplasia.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-03593-1
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- Publication type:
- Article
Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32707-0
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- Publication type:
- Article
Optimal management of complications associated with achondroplasia.
- Published in:
- Application of Clinical Genetics, 2014, v. 7, p. 117, doi. 10.2147/TACG.S51485
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- Publication type:
- Article
Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family.
- Published in:
- Clinical Genetics, 1997, v. 52, n. 4, p. 199, doi. 10.1111/j.1399-0004.1997.tb02547.x
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- Publication type:
- Article
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.
- Published in:
- 2011
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- Publication type:
- journal article
Osteopetrosis.
- Published in:
- 2009
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- Publication type:
- journal article
Osteopetrosis.
- Published in:
- Orphanet Journal of Rare Diseases, 2009, v. 4, p. 1, doi. 10.1186/1750-1172-4-5
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- 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
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- Publication type:
- Article
A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley–Kendall dysplasia are allelic disorders.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 6, p. 1, doi. 10.1002/mgg3.1173
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- Publication type:
- Article
Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders.
- Published in:
- Australasian Journal of Dermatology, 2016, v. 57, n. 4, p. 312, doi. 10.1111/ajd.12367
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- Publication type:
- Article
The effect of height, weight and head circumference on gross motor development in achondroplasia.
- Published in:
- Journal of Paediatrics & Child Health, 2013, v. 49, n. 2, p. E122, doi. 10.1111/jpc.12078
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- Publication type:
- Article
Medical management of children with achondroplasia: Evaluation of an Australasian cohort aged 0-5 years.
- Published in:
- Journal of Paediatrics & Child Health, 2012, v. 48, n. 5, p. 443, doi. 10.1111/j.1440-1754.2011.02255.x
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- Publication type:
- Article
Clinical phenotypes associated with type II collagen mutations.
- Published in:
- Journal of Paediatrics & Child Health, 2012, v. 48, n. 2, p. E38, doi. 10.1111/j.1440-1754.2010.01979.x
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- Publication type:
- Article
The natural history and osteodystrophy of mucolipidosis types II and III.
- Published in:
- Journal of Paediatrics & Child Health, 2010, v. 46, n. 6, p. 316, doi. 10.1111/j.1440-1754.2010.01715.x
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- Publication type:
- Article
Nosology of genetic skeletal disorders: 2023 revision.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1164, doi. 10.1002/ajmg.a.63132
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- Publication type:
- Article
Nosology and classification of genetic skeletal disorders: 2019 revision.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2393, doi. 10.1002/ajmg.a.61366
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- 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
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- Publication type:
- Article
Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2960, doi. 10.1002/ajmg.a.37856
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- Publication type:
- Article
Emerging targeted drug therapies in skeletal dysplasias.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 10, p. 2596, doi. 10.1002/ajmg.a.37734
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- Publication type:
- Article
Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1363, doi. 10.1002/ajmg.a.37548
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- 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
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- Publication type:
- Article
Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2869, doi. 10.1002/ajmg.a.37365
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- Publication type:
- Article
SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2319, doi. 10.1002/ajmg.a.37177
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- Publication type:
- Article
International guidelines for the management and treatment of Morquio A syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 1, p. 11, doi. 10.1002/ajmg.a.36833
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- Publication type:
- Article
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 77, doi. 10.1002/ajmg.a.36203
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- Publication type:
- Article
Osteopathia Striata With Cranial Sclerosis Owing to WTX Gene Defect.
- Published in:
- Journal of Bone & Mineral Research, 2010, v. 25, n. 1, p. 82, doi. 10.1359/jbmr.090707
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- Publication type:
- Article
Mutations in TRPV4 cause an inherited arthropathy of hands and feet.
- Published in:
- Nature Genetics, 2011, v. 43, n. 11, p. 1142, doi. 10.1038/ng.945
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- Publication type:
- Article
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
- Published in:
- Nature Genetics, 2004, v. 36, n. 11, p. 1213, doi. 10.1038/ng1453
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- Publication type:
- Article
“Duplicate calcaneus”: a rare developmental defect observed in several skeletal dysplasias.
- Published in:
- Pediatric Radiology, 2001, v. 31, n. 1, p. 38, doi. 10.1007/s002470000354
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- Publication type:
- Article
Neurodevelopmental functioning of infants with untreated single-suture craniosynostosis during early infancy.
- Published in:
- Child's Nervous System, 2012, v. 28, n. 6, p. 869, doi. 10.1007/s00381-011-1660-1
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- Publication type:
- Article
Expanding the cleft phenotype: the dental characteristics of unaffected parents of Australian children with non-syndromic cleft lip and palate.
- Published in:
- International Journal of Paediatric Dentistry, 2014, v. 24, n. 4, p. 286, doi. 10.1111/ipd.12072
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- Publication type:
- Article
Expanding the cleft phenotype: the dental characteristics of unaffected parents of Australian children with non-syndromic cleft lip and palate.
- Published in:
- 2013
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- Publication type:
- Journal Article
Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?
- Published in:
- 2019
- By:
- Publication type:
- journal article
Development in children with achondroplasia: a prospective clinical cohort study.
- Published in:
- Developmental Medicine & Child Neurology, 2012, v. 54, n. 6, p. 532, doi. 10.1111/j.1469-8749.2012.04234.x
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- Publication type:
- Article
Functional performance in young Australian children with achondroplasia.
- Published in:
- Developmental Medicine & Child Neurology, 2011, v. 53, n. 10, p. 944, doi. 10.1111/j.1469-8749.2011.04050.x
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- Publication type:
- Article
"This is my boy's health! Talk straight to me!" perspectives on accessible and culturally safe care among Aboriginal and Torres Strait Islander patients of clinical genetics services.
- Published in:
- International Journal for Equity in Health, 2021, v. 20, n. 1, p. 1, doi. 10.1186/s12939-021-01443-0
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- Publication type:
- Article
Culturally competent communication in Indigenous disability assessment: a qualitative study.
- Published in:
- International Journal for Equity in Health, 2021, v. 20, n. 1, p. 1, doi. 10.1186/s12939-021-01402-9
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- Publication type:
- Article
Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.
- Published in:
- Human Genetics, 2010, v. 127, n. 1, p. 33, doi. 10.1007/s00439-009-0729-3
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- Publication type:
- Article
Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease.
- Published in:
- Human Genetics, 2001, v. 109, n. 6, p. 653, doi. 10.1007/s00439-001-0644-8
- By:
- Publication type:
- Article
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 7, p. 753, doi. 10.1038/ejhg.2011.11
- By:
- Publication type:
- Article
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 639, doi. 10.1038/sj.ejhg.5201025
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- Publication type:
- Article
Australian guidelines for the management of children with achondroplasia.
- Published in:
- Journal of Paediatrics & Child Health, 2023, v. 59, n. 2, p. 229, doi. 10.1111/jpc.16290
- By:
- Publication type:
- Article
Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Successful Use of Enzyme Replacement Therapy in Infantile Hypophosphatasia.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
A community-based co-designed genetic health service model for Aboriginal Australians.
- Published in:
- PLoS ONE, 2020, v. 15, n. 10, p. 1, doi. 10.1371/journal.pone.0239765
- By:
- Publication type:
- Article
Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial.
- Published in:
- 2007
- By:
- Publication type:
- journal article
Effect of Perindopril on Large Artery Stiffness and Aortic Root Diameter in Patients With Marfan Syndrome.
- Published in:
- JAMA: Journal of the American Medical Association, 2007, v. 298, n. 13, p. 1539, doi. 10.1001/jama.298.13.1539
- By:
- Publication type:
- Article
Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02641-5
- By:
- Publication type:
- Article
Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study.
- Published in:
- 2022
- By:
- Publication type:
- journal article