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Items: 1 to 50 of 204

1.

Intellectual functioning in alpha-mannosidosis.

Cathey SS, Sarasua SM, Simensen R, Pietris K, Kimbrell G, Sillence D, Wilson C, Horowitz L.

JIMD Rep. 2019 Sep 21;50(1):44-49. doi: 10.1002/jmd2.12073. eCollection 2019 Nov.

2.

Nosology and classification of genetic skeletal disorders: 2019 revision.

Mortier GR, Cohn DH, Cormier-Daire V, Hall C, Krakow D, Mundlos S, Nishimura G, Robertson S, Sangiorgi L, Savarirayan R, Sillence D, Superti-Furga A, Unger S, Warman ML.

Am J Med Genet A. 2019 Dec;179(12):2393-2419. doi: 10.1002/ajmg.a.61366. Epub 2019 Oct 21.

PMID:
31633310
3.

Niemann-Pick type C disease: cellular pathology and pharmacotherapy.

Wheeler S, Sillence DJ.

J Neurochem. 2019 Oct 14. doi: 10.1111/jnc.14895. [Epub ahead of print] Review.

PMID:
31608980
4.

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP.

Am J Hum Genet. 2019 Sep 5;105(3):669. doi: 10.1016/j.ajhg.2019.08.007. No abstract available.

5.

Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.

Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T.

J Med Genet. 2019 Sep;56(9):629-638. doi: 10.1136/jmedgenet-2019-106019. Epub 2019 May 25.

PMID:
31129566
6.

Biallelic variants in DNA2 cause microcephalic primordial dwarfism.

Tarnauskaitė Ž, Bicknell LS, Marsh JA, Murray JE, Parry DA, Logan CV, Bober MB, de Silva DC, Duker AL, Sillence D, Wise C, Jackson AP, Murina O, Reijns MAM.

Hum Mutat. 2019 Aug;40(8):1063-1070. doi: 10.1002/humu.23776. Epub 2019 Jun 23.

7.

Cytosolic glucosylceramide regulates endolysosomal function in Niemann-Pick type C disease.

Wheeler S, Haberkant P, Bhardwaj M, Tongue P, Ferraz MJ, Halter D, Sprong H, Schmid R, Aerts JMFG, Sullo N, Sillence DJ.

Neurobiol Dis. 2019 Jul;127:242-252. doi: 10.1016/j.nbd.2019.03.005. Epub 2019 Mar 12.

PMID:
30872158
8.

Lipid⁻Protein Interactions in Niemann⁻Pick Type C Disease: Insights from Molecular Modeling.

Wheeler S, Schmid R, Sillence DJ.

Int J Mol Sci. 2019 Feb 7;20(3). pii: E717. doi: 10.3390/ijms20030717.

9.

CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.

Sargolzaeiaval F, Zhang J, Schleit J, Lessel D, Kubisch C, Precioso DR, Sillence D, Hisama FM, Dorschner M, Martin GM, Oshima J.

Mol Genet Genomic Med. 2018 Nov;6(6):1148-1156. doi: 10.1002/mgg3.495. Epub 2018 Nov 4.

10.

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP.

Am J Hum Genet. 2018 Jun 7;102(6):1115-1125. doi: 10.1016/j.ajhg.2018.04.008. Epub 2018 May 24. Erratum in: Am J Hum Genet. 2019 Sep 5;105(3):669.

11.

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL.

N Engl J Med. 2017 Aug 10;377(6):544-552. doi: 10.1056/NEJMoa1616361.

12.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Adés LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP.

Am J Med Genet A. 2017 Jul;173(7):1739-1746. doi: 10.1002/ajmg.a.38267. Epub 2017 May 12.

PMID:
28498505
13.

Osteogenesis imperfecta in southern Africa: Peter Beighton's legacy.

Sillence D.

S Afr Med J. 2016 May 26;106(6 Suppl 1):S13-8. doi: 10.7196/SAMJ.2016.v106i6.11025. No abstract available.

PMID:
27245550
14.

Nosology and classification of genetic skeletal disorders: 2015 revision.

Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, Nishimura G, Sangiorgi L, Savarirayan R, Sillence D, Spranger J, Superti-Furga A, Warman M, Unger S.

Am J Med Genet A. 2015 Dec;167A(12):2869-92. doi: 10.1002/ajmg.a.37365. Epub 2015 Sep 23.

PMID:
26394607
15.

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.

Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF.

Hum Mol Genet. 2015 Nov 1;24(21):6146-59. doi: 10.1093/hmg/ddv331. Epub 2015 Aug 20.

16.

Mechanisms of Gaucher disease pathogenesis.

Wheeler S, Sillence DJ.

Ann Transl Med. 2015 May;3(Suppl 1):S1. doi: 10.3978/j.issn.2305-5839.2015.03.42. No abstract available.

17.

Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.

Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME.

Am J Hum Genet. 2015 Jun 4;96(6):971-8. doi: 10.1016/j.ajhg.2015.04.017. Epub 2015 May 28.

18.

Cognitive and psychological functioning in Fabry disease.

Sigmundsdottir L, Tchan MC, Knopman AA, Menzies GC, Batchelor J, Sillence DO.

Arch Clin Neuropsychol. 2014 Nov;29(7):642-50. doi: 10.1093/arclin/acu047.

19.

Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.

Van Dijk FS, Sillence DO.

Am J Med Genet A. 2014 Jun;164A(6):1470-81. doi: 10.1002/ajmg.a.36545. Epub 2014 Apr 8. Review. Erratum in: Am J Med Genet A. 2015 May;167A(5):1178.

20.

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V.

Lazarus S, McInerney-Leo AM, McKenzie FA, Baynam G, Broley S, Cavan BV, Munns CF, Pruijs JE, Sillence D, Terhal PA, Pryce K, Brown MA, Zankl A, Thomas G, Duncan EL.

BMC Musculoskelet Disord. 2014 Mar 27;15:107. doi: 10.1186/1471-2474-15-107.

21.

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.

te Vruchte D, Speak AO, Wallom KL, Al Eisa N, Smith DA, Hendriksz CJ, Simmons L, Lachmann RH, Cousins A, Hartung R, Mengel E, Runz H, Beck M, Amraoui Y, Imrie J, Jacklin E, Riddick K, Yanjanin NM, Wassif CA, Rolfs A, Rimmele F, Wright N, Taylor C, Ramaswami U, Cox TM, Hastings C, Jiang X, Sidhu R, Ory DS, Arias B, Jeyakumar M, Sillence DJ, Wraith JE, Porter FD, Cortina-Borja M, Platt FM.

J Clin Invest. 2014 Mar;124(3):1320-8.

22.

Left atrial enlargement and reduced atrial compliance occurs early in Fabry cardiomyopathy.

Boyd AC, Lo Q, Devine K, Tchan MC, Sillence DO, Sadick N, Richards DA, Thomas L.

J Am Soc Echocardiogr. 2013 Dec;26(12):1415-23. doi: 10.1016/j.echo.2013.08.024. Epub 2013 Oct 3.

PMID:
24094560
23.

A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.

Leroy JG, Sillence D, Wood T, Barnes J, Lebel RR, Friez MJ, Stevenson RE, Steet R, Cathey SS.

Eur J Hum Genet. 2014 May;22(5):594-601. doi: 10.1038/ejhg.2013.207. Epub 2013 Sep 18.

24.

Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial.

Bishop N, Adami S, Ahmed SF, Antón J, Arundel P, Burren CP, Devogelaer JP, Hangartner T, Hosszú E, Lane JM, Lorenc R, Mäkitie O, Munns CF, Paredes A, Pavlov H, Plotkin H, Raggio CL, Reyes ML, Schoenau E, Semler O, Sillence DO, Steiner RD.

Lancet. 2013 Oct 26;382(9902):1424-32. doi: 10.1016/S0140-6736(13)61091-0. Epub 2013 Aug 6.

PMID:
23927913
25.

Intravenous pamidronate treatment in children with moderate-to-severe osteogenesis imperfecta started under three years of age.

Alcausin MB, Briody J, Pacey V, Ault J, McQuade M, Bridge C, Engelbert RH, Sillence DO, Munns CF.

Horm Res Paediatr. 2013;79(6):333-40. doi: 10.1159/000351374. Epub 2013 May 31.

PMID:
23735642
26.

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

Rohrbach M, Spencer HL, Porter LF, Burkitt-Wright EM, Bürer C, Janecke A, Bakshi M, Sillence D, Al-Hussain H, Baumgartner M, Steinmann B, Black GC, Manson FD, Giunta C.

Mol Genet Metab. 2013 Jul;109(3):289-95. doi: 10.1016/j.ymgme.2013.04.014. Epub 2013 Apr 26.

27.

Glucosylceramide modulates endolysosomal pH in Gaucher disease.

Sillence DJ.

Mol Genet Metab. 2013 Jun;109(2):194-200. doi: 10.1016/j.ymgme.2013.03.015. Epub 2013 Apr 3.

PMID:
23628459
28.

Homocysteine and erythrocyte sedimentation rate correlate with cerebrovascular disease in fabry disease.

Cheung R, Sillence DO, Tchan MC.

JIMD Rep. 2012;6:101-5. doi: 10.1007/8904_2011_123. Epub 2012 Feb 1.

29.

Effect of reduced agalsidase Beta dosage in fabry patients: the Australian experience.

Ghali J, Nicholls K, Denaro C, Sillence D, Chapman I, Goldblatt J, Thomas M, Fletcher J; Australian State Fabry Disease Treatment Centres.

JIMD Rep. 2012;3:33-43. doi: 10.1007/8904_2011_44. Epub 2011 Sep 15.

30.

Combined Enzyme Replacement Therapy and Hematopoietic Stem Cell Transplantation in Mucopolysacharidosis Type VI.

Sillence D, Waters K, Donaldson S, Shaw PJ, Ellaway C.

JIMD Rep. 2012;2:103-6. doi: 10.1007/8904_2011_56. Epub 2011 Sep 6.

31.

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

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

J Paediatr Child Health. 2013 Feb;49(2):E122-7. doi: 10.1111/jpc.12078. Epub 2013 Jan 22.

PMID:
23336715
32.

Upregulation of inward rectifying currents and Fabry disease neuropathy.

Geevasinga N, Tchan M, Sillence D, Vucic S.

J Peripher Nerv Syst. 2012 Dec;17(4):399-406. doi: 10.1111/j.1529-8027.2012.00438.x.

PMID:
23279341
33.

A common presentation of a rare genetic disorder clinically mimicking primary myopathy.

Wu KH, Kohn MR, Turner A, Sillence DO.

Adolesc Med State Art Rev. 2012 Aug;23(2):393-403. Review. No abstract available.

PMID:
23162949
34.

IMPAD1 mutations in two Catel-Manzke like patients.

Nizon M, Alanay Y, Tuysuz B, Kiper PO, Geneviève D, Sillence D, Huber C, Munnich A, Cormier-Daire V.

Am J Med Genet A. 2012 Sep;158A(9):2183-7. doi: 10.1002/ajmg.a.35504. Epub 2012 Aug 6.

PMID:
22887726
35.

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

Nizon M, Huber C, De Leonardis F, Merrina R, Forlino A, Fradin M, Tuysuz B, Abu-Libdeh BY, Alanay Y, Albrecht B, Al-Gazali L, Basaran SY, Clayton-Smith J, Désir J, Gill H, Greally MT, Koparir E, van Maarle MC, MacKay S, Mortier G, Morton J, Sillence D, Vilain C, Young I, Zerres K, Le Merrer M, Munnich A, Le Goff C, Rossi A, Cormier-Daire V.

Hum Mutat. 2012 Aug;33(8):1261-6. doi: 10.1002/humu.22104. Epub 2012 May 22.

36.

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

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

Dev Med Child Neurol. 2012 Jun;54(6):532-7. doi: 10.1111/j.1469-8749.2012.04234.x. Epub 2012 Mar 12.

37.

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

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

J Paediatr Child Health. 2012 May;48(5):443-9. doi: 10.1111/j.1440-1754.2011.02255.x. Epub 2011 Nov 23.

PMID:
22112170
38.

Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases.

Gray PE, Sillence D, Kakakios A.

Int J Immunogenet. 2011 Dec;38(6):501-5. doi: 10.1111/j.1744-313X.2011.01041.x. Epub 2011 Oct 7.

PMID:
21977988
39.

Functional performance in young Australian children with achondroplasia.

Ireland PJ, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson EM, Townshend S, Johnston LM.

Dev Med Child Neurol. 2011 Oct;53(10):944-50. doi: 10.1111/j.1469-8749.2011.04050.x. Epub 2011 Aug 12.

40.

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V.

Am J Hum Genet. 2011 Jul 15;89(1):7-14. doi: 10.1016/j.ajhg.2011.05.012. Epub 2011 Jun 16.

41.

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.

Andreucci E, Aftimos S, Alcausin M, Haan E, Hunter W, Kannu P, Kerr B, McGillivray G, McKinlay Gardner RJ, Patricelli MG, Sillence D, Thompson E, Zacharin M, Zankl A, Lamandé SR, Savarirayan R.

Orphanet J Rare Dis. 2011 Jun 9;6:37. doi: 10.1186/1750-1172-6-37.

42.

Fabry disease and Factor V Leiden: a potent vascular risk combination.

Tchan M, Sillence D.

Intern Med J. 2011 May;41(5):422-6. doi: 10.1111/j.1445-5994.2011.02483.x.

PMID:
21605293
43.

Nosology and classification of genetic skeletal disorders: 2010 revision.

Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL, Robertson S, Savarirayan R, Sillence D, Spranger J, Unger S, Zabel B, Superti-Furga A.

Am J Med Genet A. 2011 May;155A(5):943-68. doi: 10.1002/ajmg.a.33909. Epub 2011 Mar 15. Review.

44.

Sub-pleural bullous changes in two adults with Mucopolysaccharidosis type I (Hurler-Scheie).

Tchan MC, Graf N, Sillence DO.

J Inherit Metab Dis. 2011 Apr;34(2):547-8. doi: 10.1007/s10545-010-9273-5. Epub 2011 Feb 1.

PMID:
21286938
45.

Respiratory events and obstructive sleep apnea in children with achondroplasia: investigation and treatment outcomes.

Afsharpaiman S, Sillence DO, Sheikhvatan M, Ault JE, Waters K.

Sleep Breath. 2011 Dec;15(4):755-61. doi: 10.1007/s11325-010-0432-6. Epub 2011 Jan 13.

PMID:
21225355
46.
47.

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.

Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A.

Am J Med Genet A. 2010 Oct;152A(10):2543-9. doi: 10.1002/ajmg.a.33641.

PMID:
20830804
48.

Glycosphingolipid storage leads to the enhanced degradation of the B cell receptor in Sandhoff disease mice.

te Vruchte D, Jeans A, Platt FM, Sillence DJ.

J Inherit Metab Dis. 2010 Jun;33(3):261-70. doi: 10.1007/s10545-010-9109-3. Epub 2010 May 11.

49.

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

David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, Wilson M, McGill J, Edwards M, Munns C, Alcausin M, Cathey S, Sillence D.

J Paediatr Child Health. 2010 Jun;46(6):316-22. doi: 10.1111/j.1440-1754.2010.01715.x. Epub 2010 Mar 29.

50.

Two novel missense mutations in HAIRY-AND-ENHANCER-OF-SPLIT-7 in a family with spondylocostal dysostosis.

Sparrow DB, Sillence D, Wouters MA, Turnpenny PD, Dunwoodie SL.

Eur J Hum Genet. 2010 Jun;18(6):674-9. doi: 10.1038/ejhg.2009.241. Epub 2010 Jan 20.

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