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Papers authored by Savarirayan R

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

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Ahimastos AA, Aggarwal A, Savarirayan R, Dart AM, and Kingwell BA

Atherosclerosis 209(1):211-4, 2010 Mar - Who cited this? | PubMed ID: 19717156 | Fulltext

Developmental milestones in infants and young australasian children with achondroplasia.

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Ireland PJ, Johnson S, Donaghey S, Johnston L, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, and Townshend S

Journal of developmental and behavioral pediatrics : JDBP 31(1):41-7, 2010 Jan - Who cited this? | PubMed ID: 20081435 | Fulltext

Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.

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Dimasi DP, Chen JY, Hewitt AW, Klebe S, Davey R, Stirling J, Thompson E, Forbes R, Tan TY, Savarirayan R, Mackey DA, Healey PR, Mitchell P, Burdon KP, and Craig JE

Human genetics 127(1):33-44, 2010 Jan - Who cited this? | PubMed ID: 19714363 | Fulltext

Osteopathia striata with cranial sclerosis owing to WTX gene defect.

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Perdu B, Freitas F, Frints SG, Schouten M, Schrander-Stumpel C, Barbosa M, Pinto-Basto J, Reis-Lima M, Vernejoul MC, Becker K, Freckmann ML, Keymolen K, Haan E, Savarirayan R, Koenig R, Zabel B,

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Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 25(1):82-90, 2010 Jan - Who cited this? | PubMed ID: 20209645 | Fulltext

Mutations in PYCR1 cause cutis laxa with progeroid features.

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Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, Shboul M, Tham PY, Kayserili H, Al-Gazali L, Shahwan M, Brancati F, Lee H, O'Connor BD, Schmidt-von Kegler M, Merriman B,

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Nature genetics 41(9):1016-21, 2009 Sep - Who cited this? | PubMed ID: 19648921 | Fulltext

Heritability of central corneal thickness in nuclear families.

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Landers JA, Hewitt AW, Dimasi DP, Charlesworth JC, Straga T, Mills RA, Savarirayan R, Mackey DA, Burdon KP, and Craig JE

Investigative ophthalmology & visual science 50(9):4087-90, 2009 Sep - Who cited this? | PubMed ID: 19420341 | Fulltext

Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: An Australian multicenter study.

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James PA, Culling B, Mullan G, Jenkins M, Elakis G, Turner AM, Mowat DM, Wilson M, Anderson P, Savarirayan R, Cliffe ST, Caramins M, Buckley MF, Tucker K, and Roscioli T

Genes, chromosomes & cancer 48(7):533-8, 2009 Jul - Who cited this? | PubMed ID: 19373776 | Fulltext

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.

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Tan TY, Aftimos S, Worgan L, Susman R, Wilson M, Ghedia S, Kirk EP, Love D, Ronan A, Darmanian A, Slavotinek A, Hogue J, Moeschler JB, Ozmore J, Widmer R, Savarirayan R,

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Journal of medical genetics 46(7):480-9, 2009 Jul - Who cited this? | PubMed ID: 19447831 | Fulltext

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.

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Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxová A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R,

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American journal of human genetics 84(6):760-70, 2009 Jun - Who cited this? | PubMed ID: 19481194 | Fulltext

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

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Yeung A, Amor D, and Savarirayan R

American journal of medical genetics. Part A 149A(4):767-9, 2009 Feb 15 - Who cited this? | PubMed ID: 19291776 | Fulltext

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

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Bruno DL, Ganesamoorthy D, Schoumans J, Bankier A, Coman D, Delatycki M, Gardner RJ, Hunter M, James PA, Kannu P, McGillivray G, Pachter N, Peters H, Rieubland C, Savarirayan R, Scheffer IE,

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Journal of medical genetics 46(2):123-31, 2009 Feb - Who cited this? | PubMed ID: 19015223 | Fulltext

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

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Trochet D, Mathieu Y, Pontual L, Savarirayan R, Munnich A, Brunet JF, Lyonnet S, Goridis C, and Amiel J

Human mutation 30(2):E421-31, 2009 Feb - Who cited this? | PubMed ID: 19058226 | Fulltext

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

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Kannu P, Bateman JF, Belluoccio D, Fosang AJ, and Savarirayan R

Arthritis and rheumatism 60(2):325-34, 2009 Feb - Who cited this? | PubMed ID: 19180483 | Fulltext

Osteopetrosis.

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Stark Z and Savarirayan R

Orphanet journal of rare diseases 4:5, 2009 - Who cited this? | PubMed ID: 19232111 | Fulltext

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

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Coman D, Bacic S, Boys A, Sparrow DB, Dunwoodie SL, Savarirayan R, and Amor DJ

American journal of medical genetics. Part A 146A(15):1972-6, 2008 Aug 1 - Who cited this? | PubMed ID: 18627039 | Fulltext

The skeletal manifestations of the congenital disorders of glycosylation.

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Coman D, Irving M, Kannu P, Jaeken J, and Savarirayan R

Clinical genetics 73(6):507-15, 2008 Jun - Who cited this? | PubMed ID: 18462449 | Fulltext

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia.

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Coman D, Bostock D, Hunter M, Kannu P, Irving M, Mayne V, Fietz M, Jaeken J, and Savarirayan R

American journal of medical genetics. Part A 146(3):389-92, 2008 Feb 1 - Who cited this? | PubMed ID: 18203160 | Fulltext

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

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Kannu P, Aftimos S, Mayne V, Donnan L, and Savarirayan R

American journal of medical genetics. Part A 143(21):2512-22, 2007 Nov 1 - Who cited this? | PubMed ID: 17879966 | Fulltext

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

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Kannu P, McFarlane JH, Savarirayan R, and Aftimos S

American journal of medical genetics. Part A 143(21):2607-11, 2007 Nov 1 - Who cited this? | PubMed ID: 17935248 | Fulltext

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

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Cavanagh JA, Tammen I, Windsor PA, Bateman JF, Savarirayan R, Nicholas FW, and Raadsma HW

Mammalian genome : official journal of the International Mammalian Genome Society 18(11):808-14, 2007 Nov - Who cited this? | PubMed ID: 17952705 | Fulltext

Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial.

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Ahimastos AA, Aggarwal A, D'Orsa KM, Formosa MF, White AJ, Savarirayan R, Dart AM, and Kingwell BA

JAMA : the journal of the American Medical Association 298(13):1539-47, 2007 Oct 3 - Who cited this? | PubMed ID: 17911499 | Fulltext

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

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Tan TY, Whitelaw C, and Savarirayan R

Clinical dysmorphology 16(4):271-3, 2007 Oct - Who cited this? | PubMed ID: 17786121 | Fulltext

Lethal metatropic dysplasia: a case report.

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Kumar B, Kannu P, Savarirayan R, and Chan Y

Pathology 39(1):177-81, 2007 Feb - Who cited this? | PubMed ID: 17365839 | Fulltext

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

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Tan TY, Jameson JL, Campbell PE, Ekert PG, Zacharin M, and Savarirayan R

American journal of medical genetics. Part A 140(16):1778-84, 2006 Aug 15 - Who cited this? | PubMed ID: 16835919 | Fulltext

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

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Tomlinson JK, Liem NT, Savarirayan R, and Meara JG

Annals of plastic surgery 57(2):231-5, 2006 Aug - Who cited this? | PubMed ID: 16862010 | Fulltext

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

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Da Costa AC, Walters I, Savarirayan R, Anderson VA, Wrennall JA, and Meara JG

Plastic and reconstructive surgery 118(1):175-81; discussion 182-3, 2006 Jul - Who cited this? | PubMed ID: 16816692 | Fulltext

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

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Kannu P, Savarirayan R, Ozoemena L, White SM, and McGrath JA

American journal of medical genetics. Part A 140(8):887-91, 2006 Apr 15 - Who cited this? | PubMed ID: 16532463 | Fulltext

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.

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Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PC, Savarirayan R, Basel L, Moss C, Roth J, David A, De Paepe A, Coucke P, and Mortier GR

Human mutation 27(3):290, 2006 Mar - Who cited this? | PubMed ID: 16470551 | Fulltext

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

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Aldred MJ, Talacko AA, Savarirayan R, Murdolo V, Mills AE, Radden BG, Alimov A, Villablanca A, and Larsson C

Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics 101(2):212-8, 2006 Feb - Who cited this? | PubMed ID: 16448924 | Fulltext

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

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Tan TY, Bankier A, Slater HR, Northrop EL, Zacharin M, and Savarirayan R

American journal of medical genetics. Part A 139(3):216-20, 2005 Dec 15 - Who cited this? | PubMed ID: 16278903 | Fulltext

Medial temporal lobe dysgenesis in hypochondroplasia.

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Kannu P, Hayes IM, Mandelstam S, Donnan L, and Savarirayan R

American journal of medical genetics. Part A 138(4):389-91, 2005 Nov 1 - Who cited this? | PubMed ID: 16222682 | Fulltext

Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.

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McGillivray G, Savarirayan R, Cox TC, Stojkoski C, McNeil R, Bankier A, Bateman JF, Roscioli T, Gardner RJ, and Lamandé SR

Journal of medical genetics 42(8):656-62, 2005 Aug - Who cited this? | PubMed ID: 16061565 | Fulltext

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

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Hayes IM, Varigos G, Upjohn EJ, Orchard DC, Penny DJ, and Savarirayan R

American journal of medical genetics. Part A 135(3):302-3, 2005 Jun 15 - Who cited this? | PubMed ID: 15884011 | Fulltext

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

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Tan TY, McGillivray G, Kornman L, Fink AM, Superti-Furga A, Bonafé L, Francis DI, and Savarirayan R

American journal of medical genetics. Part A 135(3):324-7, 2005 Jun 15 - Who cited this? | PubMed ID: 15887278 | Fulltext

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

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Bateman JF, Wilson R, Freddi S, Lamandé SR, and Savarirayan R

Human mutation 25(6):525-34, 2005 Jun - Who cited this? | PubMed ID: 15880705 | Fulltext

Neuropsychological diversity in Apert syndrome: a comparison of cognitive profiles.

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Da Costa AC, Savarirayan R, Wrennall JA, Walters I, Gardiner N, Tucker A, Anderson V, and Meara JG

Annals of plastic surgery 54(4):450-5, 2005 Apr - Who cited this? | PubMed ID: 15785290 | Fulltext

Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3.

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Amor DJ, Voullaire L, Bentley K, Savarirayan R, and Choo KH

American journal of medical genetics. Part A 133(2):151-7, 2005 Mar 1 - Who cited this? | PubMed ID: 15666312 | Fulltext

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

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Cohn AC, Kearns LS, Savarirayan R, Ryan J, Craig JE, and Mackey DA

Ophthalmic genetics 26(1):45-53, 2005 Mar - Who cited this? | PubMed ID: 15823925 | Fulltext

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.

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Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM,

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Nature genetics 36(11):1213-8, 2004 Nov - Who cited this? | PubMed ID: 15489854 | Fulltext

TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.

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Susani L, Pangrazio A, Sobacchi C, Taranta A, Mortier G, Savarirayan R, Villa A, Orchard P, Vezzoni P, Albertini A, Frattini A, and Pagani F

Human mutation 24(3):225-35, 2004 Sep - Who cited this? | PubMed ID: 15300850 | Fulltext

Are Duane syndrome and infantile esotropia allelic?.

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Connell BJ, Wilkinson RM, Barbour JM, Scotter LW, Poulsen JL, Wirth MG, Essex RW, Savarirayan R, and Mackey DA

Ophthalmic genetics 25(3):189-98, 2004 Sep - Who cited this? | PubMed ID: 15512995 | Fulltext

Primary trabeculodysgenesis in association with neonatal Marfan syndrome.

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Whitelaw CM, Anwar S, Adès LC, Gole GA, Elder JE, and Savarirayan R

American journal of medical genetics. Part A 128(4):418-21, 2004 Aug 1 - Who cited this? | PubMed ID: 15264290 | Fulltext

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

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White SM, Thompson EM, Kidd A, Savarirayan R, Turner A, Amor D, Delatycki MB, Fahey M, Baxendale A, White S, Haan E, Gibson K, Halliday JL, and Bankier A

American journal of medical genetics. Part A 127(2):118-27, 2004 Jun 1 - Who cited this? | PubMed ID: 15108197 | Fulltext

Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly.

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Bateman JF, Freddi S, McNeil R, Thompson E, Hermanns P, Savarirayan R, and Lamandé SR

Human mutation 23(4):396, 2004 Apr - Who cited this? | PubMed ID: 15024737 | Fulltext

Jaw lesions and hyperparathyroidism.

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Aldred MJ, Talacko AA, and Savarirayan R

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons 62(4):519, 2004 Apr - Who cited this? | PubMed ID: 15085526 | Fulltext

IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development.

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Pedreira CC, Savarirayan R, and Zacharin MR

The Journal of pediatrics 144(2):274-7, 2004 Feb - Who cited this? | PubMed ID: 14760276 | Fulltext

Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history.

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Savarirayan R, Boyle RJ, Masel J, Rogers JG, and Sheffield LJ

American journal of medical genetics. Part A 124(2):148-57, 2004 Jan 15 - Who cited this? | PubMed ID: 14699613 | Fulltext

Ossifying fibroma of the face and hyperparathyroidism in a chronic hemodialysis patient.

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Aldred MJ, Talacko AA, and Savarirayan R

Nephrologie 25(1):33; author reply 33, 2004 - Who cited this? | PubMed ID: 15022872 | Fulltext

Skeletal dysplasias.

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Savarirayan R and Rimoin DL

Advances in pediatrics 51:209-29, 2004 - Who cited this? | PubMed ID: 15366775 | Fulltext

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign.

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Mäkitie O, Savarirayan R, Bonafé L, Robertson S, Susic M, Superti-Furga A, and Cole WG

American journal of medical genetics. Part A 122(3):187-92, 2003 Oct 15 - Who cited this? | PubMed ID: 12966518 | Fulltext

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