Ravi Savarirayan

Ravi Savarirayan

UNVERIFIED PROFILE

Are you Ravi Savarirayan?   Register this Author

Register author
Ravi Savarirayan

Ravi Savarirayan

Publications by authors named "Ravi Savarirayan"

Are you Ravi Savarirayan?   Register this Author

98Publications

2669Reads

48Profile Views

Nosology and classification of genetic skeletal disorders: 2019 revision.

Am J Med Genet A 2019 Dec 21;179(12):2393-2419. Epub 2019 Oct 21.

Orthopaedic Research Laboratories, Boston Children's Hospital, Boston, Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61366DOI Listing
December 2019

Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.

J Paediatr Child Health 2019 Nov 12;55(11):1309-1314. Epub 2019 Feb 12.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jpc.14398DOI Listing
November 2019

Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders.

Genet Med 2019 09 30;21(9):2070-2080. Epub 2019 Jan 30.

Department of Orthopedics and Sports Medicine, Seattle Children's Hospital, University of Washington, Seattle, WA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0446-9DOI Listing
September 2019

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia. Reply.

N Engl J Med 2019 09;381(13):1291-1292

BioMarin, London, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMc1910394DOI Listing
September 2019

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.

N Engl J Med 2019 07 18;381(1):25-35. Epub 2019 Jun 18.

From Murdoch Children's Research Institute, Royal Children's Hospital, University of Melbourne, Parkville, VIC, Australia (R.S.); Guy's and St. Thomas' NHS Foundation Trust, Evelina Children's Hospital, London (M.I.); Baylor College of Medicine, Houston (C.A.B., B.B.); Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago (J.C.); the Medical Genetics Department, Université Paris Descartes-Sorbonne Paris Cité, INSERM Unité Mixte de Recherche 1163, Institute Imagine, Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris (V.C.-D., K.-H.L.Q.S.); Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance (P.D.), University of California, San Francisco, Benioff Children's Hospital Oakland, Oakland (P.H.), and BioMarin Pharmaceutical, Novato (A.C., K.J., G.S.J., K.L., M.L.C.) - all in California; Vanderbilt University Medical Center, Nashville (J.P., N.O.); BioMarin, London (A.H.L., J.D.); and Johns Hopkins University School of Medicine, Baltimore (J.H.-F.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1813446DOI Listing
July 2019

Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?

Orphanet J Rare Dis 2019 06 27;14(1):156. Epub 2019 Jun 27.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON, M5G 1X8, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-019-1138-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598251PMC
June 2019

A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect.

Int J Radiat Oncol Biol Phys 2019 04 30;103(5):1194-1202. Epub 2018 Nov 30.

Cancer Research Division, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia; Clinical Pathology, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville, Victoria, Australia; College of Life Sciences, Shanxi Normal University, Linfen, Shanxi, China. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03603016183404
Publisher Site
http://dx.doi.org/10.1016/j.ijrobp.2018.11.047DOI Listing
April 2019

Current knowledge of medical complications in adults with achondroplasia: A scoping review.

Clin Genet 2019 Mar 27. Epub 2019 Mar 27.

Sunnaas Rehabilitation Hospital, TRS National Resource Centre for Rare Disorders, Nesoddtangen, Norway.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cge.13542DOI Listing
March 2019

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

Am J Obstet Gynecol 2018 12 23;219(6):545-562. Epub 2018 Jul 23.

Department of Orthopedics and Sports Medicine, Seattle Children's Hospital, Seattle, WA; Department of Orthopedics and Sports Medicine, University of Washington, Seattle, WA.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029378183059
Publisher Site
http://dx.doi.org/10.1016/j.ajog.2018.07.017DOI Listing
December 2018

Indigenous Genetics and Rare Diseases: Harmony, Diversity and Equity.

Adv Exp Med Biol 2017 ;1031:511-520

Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-3-319-67144-4_27DOI Listing
June 2018

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

Am J Med Genet A 2017 Oct 1;173(10):2584-2595. Epub 2017 Aug 1.

Department of Anesthesia, Nemour's Alfred I du Pont Hospital for Children, Wilmington, Delaware.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38357DOI Listing
October 2017

Successful Use of Enzyme Replacement Therapy in Infantile Hypophosphatasia.

J Paediatr Child Health 2017 09;53(9):925-926

Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jpc.13638DOI Listing
September 2017

Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders.

Australas J Dermatol 2016 Nov 9;57(4):312-315. Epub 2015 Jun 9.

Royal Children's Hospital Clinical Genetics Service.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ajd.12367DOI Listing
November 2016

Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures.

Am J Med Genet A 2016 11 2;170(11):2960-2964. Epub 2016 Aug 2.

School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37856DOI Listing
November 2016

Emerging targeted drug therapies in skeletal dysplasias.

Am J Med Genet A 2016 10 7;170(10):2596-604. Epub 2016 May 7.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37734DOI Listing
October 2016

Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis.

Clin Cases Miner Bone Metab 2016 May-Aug;13(2):157-159. Epub 2016 Oct 5.

The Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.11138/ccmbm/2016.13.2.157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5119717PMC
October 2016

Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype.

Am J Med Genet A 2016 May 11;170A(5):1363-6. Epub 2016 Jan 11.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37548DOI Listing
May 2016

Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?

Hum Mutat 2016 Mar 11;37(3):324. Epub 2016 Jan 11.

Victorian Clinical Genetics Service, Murdoch Children's Research Institute, and University of Melbourne, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22937DOI Listing
March 2016

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research.

Transl Vis Sci Technol 2016 Feb 9;5(1). Epub 2016 Feb 9.

Department of Ophthalmology Flinders University, Flinders Medical Centre, Adelaide, Australia.

View Article

Download full-text PDF

Source
http://tvst.arvojournals.org/article.aspx?doi=10.1167/tvst.5
Publisher Site
http://dx.doi.org/10.1167/tvst.5.1.3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757467PMC
February 2016

Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned.

Fam Cancer 2016 Jan;15(1):25-9

Genetics Medicine and Familial Cancer Centre, The Royal Melbourne Hospital, Parkville, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10689-015-9829-5DOI Listing
January 2016

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

Am J Med Genet A 2016 Jan 23;170A(1):42-51. Epub 2015 Sep 23.

Victorian Clinical Genetics Services, Murdoch Children's Research Institute, University of Melbourne, Parkville, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37394DOI Listing
January 2016

SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.

Am J Med Genet A 2015 Oct 8;167A(10):2319-26. Epub 2015 Jun 8.

Newborn Intensive Care Unit, Royal Children's Hospital, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37177DOI Listing
October 2015

Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.

J Med Genet 2015 Jul 1;52(7):476-83. Epub 2015 Jun 1.

Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany Max Planck Institute for Molecular Genetics, Berlin, Germany Berlin-Brandenburg School for Regenerative Therapies (BSRT), Berlin, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2015-103108DOI Listing
July 2015

A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development.

Mol Syndromol 2014 Dec 8;5(6):276-86. Epub 2014 Nov 8.

Murdoch Childrens Research Institute, Department of Plastic and Maxillofacial Surgery, Royal Children's Hospital, Parkville, Vic., Australia ; Department of Paediatrics, University of Melbourne, Parkville, Vic., Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000368865DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4281577PMC
December 2014

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome.

Nat Commun 2014 Jul 22;5:4483. Epub 2014 Jul 22.

1] Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada T2N 4N1 [2] Alberta Children's Hospital Research Institute for Child and Maternal Health, Calgary, Alberta, Canada T3B 6A8 [3] Department of Computer Science, University of Toronto, Ontario, Canada. [4].

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ncomms5483
Publisher Site
http://dx.doi.org/10.1038/ncomms5483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4109005PMC
July 2014

Optimal management of complications associated with achondroplasia.

Appl Clin Genet 2014 24;7:117-25. Epub 2014 Jun 24.

Victorian Clinical Genetics Service, Royal Children's Hospital, Melbourne, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2147/TACG.S51485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4104450PMC
July 2014

The collagenopathies: review of clinical phenotypes and molecular correlations.

Curr Rheumatol Rep 2014 Jan;16(1):394

Bone Health Centre, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, 525 University Avenue, Toronto, ON, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11926-013-0394-3DOI Listing
January 2014

The effect of height, weight and head circumference on gross motor development in achondroplasia.

J Paediatr Child Health 2013 Feb 22;49(2):E122-7. Epub 2013 Jan 22.

Queensland Paediatric Rehabilitation Service, Royal Children's Hospital, Brisbane, Queensland, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jpc.12078DOI Listing
February 2013

TRPV4-associated skeletal dysplasias.

Am J Med Genet C Semin Med Genet 2012 Aug 12;160C(3):190-204. Epub 2012 Jul 12.

Génétique Médicale, CHUV, Av. Decker 2, 1011 Lausanne, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31335DOI Listing
August 2012

Neurodevelopmental functioning of infants with untreated single-suture craniosynostosis during early infancy.

Childs Nerv Syst 2012 Jun 14;28(6):869-77. Epub 2012 Jan 14.

Department of Plastic and Maxillofacial Surgery, The Royal Children's Hospital, Melbourne, VIC 3052, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-011-1660-1DOI Listing
June 2012

Development in children with achondroplasia: a prospective clinical cohort study.

Dev Med Child Neurol 2012 Jun 12;54(6):532-7. Epub 2012 Mar 12.

Queensland Paediatric Rehabilitation Service, Royal Children's Hospital, Brisbane, Qld., Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1469-8749.2012.04234.xDOI Listing
June 2012

Medical management of children with achondroplasia: evaluation of an Australasian cohort aged 0-5 years.

J Paediatr Child Health 2012 May 23;48(5):443-9. Epub 2011 Nov 23.

School of Health and Rehabilitation Sciences School of Population Health, The University of Queensland, Brisbane, Queensland, Australia.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/j.1440-1754.2011.02255.x
Publisher Site
http://dx.doi.org/10.1111/j.1440-1754.2011.02255.xDOI Listing
May 2012

Clinical phenotypes associated with type II collagen mutations.

J Paediatr Child Health 2012 Feb 18;48(2):E38-43. Epub 2011 Feb 18.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1440-1754.2010.01979.xDOI Listing
February 2012

Functional performance in young Australian children with achondroplasia.

Dev Med Child Neurol 2011 Oct 12;53(10):944-50. Epub 2011 Aug 12.

School of Health and Rehabilitation Sciences, The University of Queensland, Brisbane, Queensland, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1469-8749.2011.04050.xDOI Listing
October 2011

Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

Nat Genet 2011 Oct 2;43(11):1142-6. Epub 2011 Oct 2.

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ng.945DOI Listing
October 2011

Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.

Eur J Hum Genet 2011 Jul 16;19(7):753-6. Epub 2011 Feb 16.

Genetic Health Services Victoria, and Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg201111
Publisher Site
http://dx.doi.org/10.1038/ejhg.2011.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137491PMC
July 2011

Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation.

Clin Orthop Relat Res 2011 Jun 26;469(6):1785-90. Epub 2011 Mar 26.

Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11999-011-1850-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3094608PMC
June 2011

Nosology and classification of genetic skeletal disorders: 2010 revision.

Am J Med Genet A 2011 May 15;155A(5):943-68. Epub 2011 Mar 15.

Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, The Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33909DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3166781PMC
May 2011

WTX mutations can occur both early and late in the pathogenesis of Wilms tumour.

J Med Genet 2010 Nov 2;47(11):791-4. Epub 2010 Aug 2.

Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, PO Box 913 Dunedin, New Zealand.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmg.2010.080663DOI Listing
November 2010

Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.

Am J Med Genet A 2010 Sep;152A(9):2342-5

Genetic Health Services Victoria, and Murdoch Children's Research Institute, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33590DOI Listing
September 2010

The natural history and osteodystrophy of mucolipidosis types II and III.

J Paediatr Child Health 2010 Jun 29;46(6):316-22. Epub 2010 Mar 29.

Department of Clinical Genetics, The Children's Hospital at Westmead, New South Wales, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1440-1754.2010.01715.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188554PMC
June 2010

Premature arthritis is a distinct type II collagen phenotype.

Arthritis Rheum 2010 May;62(5):1421-30

Murdoch Childrens Research Institute, University of Melbourne, and Genetic Health Services Victoria, Parkville, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/art.27354DOI Listing
May 2010

A role for plasma transforming growth factor-beta and matrix metalloproteinases in aortic aneurysm surveillance in Marfan syndrome?

Atherosclerosis 2010 Mar 8;209(1):211-4. Epub 2009 Aug 8.

Alfred and Baker Medical Unit, Baker IDI Heart and Diabetes Research Institute, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.atherosclerosis.2009.08.003DOI Listing
March 2010

Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.

Mol Vis 2010 Mar 31;16:562-9. Epub 2010 Mar 31.

Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2847681PMC
March 2010

Heritability of central corneal thickness in nuclear families.

Invest Ophthalmol Vis Sci 2009 Sep 6;50(9):4087-90. Epub 2009 May 6.

Department of Ophthalmology, Flinders Medical Centre, Adelaide, South Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1167/iovs.08-3271DOI Listing
September 2009

In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation.

Hum Mutat 2009 Feb;30(2):E421-31

INSERM U781 et Département de Génétique, Hôpital Necker-Enfants Malades, Université Paris Descartes, Faculté de Médecine, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.20923DOI Listing
February 2009

Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritis.

Arthritis Rheum 2009 Feb;60(2):325-34

University of Melbourne, Murdoch Childrens Research Institute, Royal Children's Hospital, and Genetic Health Services Victoria, Parkville, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/art.24251DOI Listing
February 2009

Osteopetrosis.

Orphanet J Rare Dis 2009 Feb 20;4. Epub 2009 Feb 20.

Genetic Health Services Victoria, and Murdoch Childrens Research Institute, Melbourne, Australia.

View Article

Download full-text PDF

Source
https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-4-
Publisher Site
http://dx.doi.org/10.1186/1750-1172-4-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2654865PMC
February 2009

Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome.

Am J Med Genet A 2009 Feb;149A(4):767-9

Genetic Health Services Victoria, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32743DOI Listing
February 2009

Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p.

Am J Med Genet A 2008 Aug;146A(15):1972-6

Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32299DOI Listing
August 2008

Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural history.

Am J Med Genet A 2007 Nov;143A(21):2512-22

Genetic Health Services Victoria, 10th Floor Royal Children's Hospital, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.31941
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31941DOI Listing
November 2007

An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings.

Am J Med Genet A 2007 Nov;143A(21):2607-11

Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31989DOI Listing
November 2007

Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN.

Mamm Genome 2007 Nov 22;18(11):808-14. Epub 2007 Oct 22.

ReproGen, The University of Sydney, PMB3, Camden, New South Wales 2570, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00335-007-9066-9DOI Listing
November 2007

A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus?

Clin Dysmorphol 2007 Oct;16(4):271-3

Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MCD.0b013e32827425d2DOI Listing
October 2007

Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review.

Am J Med Genet A 2006 Aug;140(16):1778-84

Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31365DOI Listing
August 2006

Isolated and syndromic syngnathism: management, implications, and genetics.

Ann Plast Surg 2006 Aug;57(2):231-5

Royal Children's Hospital Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.sap.0000215265.68252.f0DOI Listing
August 2006

Intellectual outcomes in children and adolescents with syndromic and nonsyndromic craniosynostosis.

Plast Reconstr Surg 2006 Jul;118(1):175-81; discussion 182-3

Royal Children's Hospital, Parkville, Victoria 3052, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.prs.0000221009.93022.50DOI Listing
July 2006

Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome.

Am J Med Genet A 2006 Apr;140(8):887-91

Genetic Health Services Victoria, Flemington Road, Parkville, Australia.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.31187
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.31187DOI Listing
April 2006

Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2006 Feb 12;101(2):212-8. Epub 2005 Oct 12.

Dorevitch Pathology, Victoria 3084, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.tripleo.2005.06.011DOI Listing
February 2006

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome.

Am J Med Genet A 2005 Dec;139(3):216-20

Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.31013DOI Listing
December 2005

Medial temporal lobe dysgenesis in hypochondroplasia.

Am J Med Genet A 2005 Nov;138(4):389-91

Genetic Health Services, Victoria, Australia.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.30974
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.30974DOI Listing
November 2005

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

Hum Mutat 2005 Jun;25(6):525-34

Murdoch Childrens Research Institute, Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.20183DOI Listing
June 2005

Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti.

Am J Med Genet A 2005 Jun;135(3):302-3

Genetic Health Services Victoria, MCRI, Parkville, Australia.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.30698
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.30698DOI Listing
June 2005

Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location.

Am J Med Genet A 2005 Jun;135(3):324-7

Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.30754DOI Listing
June 2005

Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter.

Ophthalmic Genet 2005 Mar;26(1):45-53

Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, Eats Melbourne, VIC 3002, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/13816810590918398DOI Listing
March 2005