Publications for David Sillence
Publications for David Sillence
2016
Sillence, D. (2016). Osteogenesis imperfecta in
southern Africa: Peter Beighton's legacy. SAMJ
South African Medical Journal, 106(6), S13-S18.
<a
href="http://dx.doi.org/10.7196/SAMJ.2016.v10
6i6.11025">[More Information]</a>
2015
Munns, C., Fahiminiya, S., Poudel, N.,
Munteanu, M., Majewski, J., Sillence, D.,
Metcalf, J., Biggin, A., Glorieux, F., Fassier, F.,
et al (2015). Homozygosity for Frameshift
Mutations in XYLT2 Result in a
Spondylo-Ocular Syndrome with Bone Fragility,
Cataracts, and Hearing Defects. American
Journal of Human Genetics, 96(6), 971-978. <a
href="http://dx.doi.org/10.1016/j.ajhg.2015.04.0
17">[More Information]</a>
Ilkovski, B., Pagnamenta, A., O'Grady, G.,
Kinoshita, T., Howard, M., Lek, M., Thomas, B.,
Turner, A., Christodoulou, J., Sillence, D.,
Waddell, L., Brilot-Turville, F., North, K.,
Clarke, N., et al (2015). Mutations in PIGY:
expanding the phenotype of inherited
glycosylphosphatidylinositol deficiencies.
Human Molecular Genetics, 24(21), 6146-6159.
<a
href="http://dx.doi.org/10.1093/hmg/ddv331">[
More Information]</a>
Bonafe, L., Cormier-Daire, V., Hall, C.,
Lachman, R., Mortier, G., Mundlos, S.,
Nishimura, G., Sangiorgi, L., Savarirayan, R.,
Sillence, D., et al (2015). Nosology and
classification of genetic skeletal disorders: 2015
revision. American Journal of Medical Genetics.
Part A, 167(12), 2869-2892. <a
href="http://dx.doi.org/10.1002/ajmg.a.37365">[
More Information]</a>
2014
Leroy, J., Sillence, D., Wood, T., Barnes, J.,
Lebel, R., Friez, M., Stevenson, R., Steet, R.,
Cathey, S. (2014). A novel intermediate
mucolipidosis II/IIIβ caused by GNPTAB
mutation in the cytosolic N-terminal domain.
European Journal of Human Genetics, 22(5),
594-601. <a
href="http://dx.doi.org/10.1038/ejhg.2013.207">
[More Information]</a>
Sigmundsdottir, L., Tchan, M., Knopman, A.,
Menzies, G., Batchelor, J., Sillence, D. (2014).
Cognitive and Psychological Functioning in
Fabry Disease. Archives of Clinical
Neuropsychology, 29(7), 642-650. <a
href="http://dx.doi.org/10.1093/arclin/acu047">[
More Information]</a>
Van Dijk, F., Sillence, D. (2014). Osteogenesis
imperfecta: Clinical diagnosis, nomenclature and
severity assessment. American Journal of
Medical Genetics. Part A, 164A (6), 1470-1481.
<a
href="http://dx.doi.org/10.1002/ajmg.a.36545">[
More Information]</a>
Lazarus, S., McInerney-Leo, A., McKenzie, F.,
Baynam, G., Broley, S., Cavan, B., Munns, C.,
Pruijs, H., Sillence, D., Terhal, P., et al (2014).
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. BMC
Musculoskeletal Disorders, 15(1), 1-6. <a
href="http://dx.doi.org/10.1186/1471-2474-15-1
07">[More Information]</a>
2013
Sillence, D. (2013). Genetics and Adolescence.
In Kate Steinbeck, Michael Kohn (Eds.), A
Clinical Handbook in Adolescent Medicine: A
Guide for Health Professionals Who Work with
Adolescents and Young Adults, (pp. 635-643).
Singapore: World Scientific Publishing.
Alcausin, M., Briody, J., Pacey, V., Ault, J.,
McQuade, M., Bridge, C., Engelbert, R.,
Sillence, D., Munns, C. (2013). Intravenous
Pamidronate Treatment in Children with
Moderate-to-Severe Osteogenesis Imperfecta
Started under Three Years of Age. Hormone
Research in Paediatrics, 79(6), 333-340. <a
href="http://dx.doi.org/10.1159/000351374">[M
ore Information]</a>
Boyd, A., Lo, Q., Devine, K., Tchan, M.,
Sillence, D., Sadick, N., Richards, D., Thomas,
L. (2013). Left atrial enlargement and reduced
atrial compliance occurs early in fabry
cardiomyopathy. Journal of the American
Society of Echocardiography, 26(12),
1415-1423. <a
href="http://dx.doi.org/10.1016/j.echo.2013.08.0
24">[More Information]</a>
Ireland, P., Ware, R., Donaghey, S., McGill, J.,
Zankl, A., Pacey, V., Ault, J., Savarirayan, R.,
Sillence, D., Thompson, E., et al (2013). The
effect of height, weight and head circumference
on gross motor development in achondroplasia.
Journal of Paediatrics and Child Health, 49(2),
E122-E127. <a
href="http://dx.doi.org/10.1111/jpc.12078">[Mo
re Information]</a>
2012
Wu, K., Kohn, M., Turner, A., Sillence, D.
(2012). A common presentation of a rare genetic
disorder clinically mimicking primary myopathy.
Adolescent Medicine: State of the Art Reviews,
23(2), 393-403. <a
Publications for David Sillence
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=23162949">[More Information]</a>
399-406. <a
href="http://dx.doi.org/10.1111/j.1529-8027.201
2.00438.x">[More Information]</a>
Sillence, D., Waters, K., Donaldson, S., Shaw,
P., Ellaway, C. (2012). Combined Enzyme
Replacement Therapy and Hematopoietic Stem
Cell Transplantation in Mucopolysacharidosis
Type VI. In Society for the Study of Inborn
Errors of Metabolism (Eds.), JIMD Reports Case and Research Reports, 2011/2, (pp.
103-106). Heidelberg: Springer.
2011
Ireland, P., Donaghey, S., McGill, J., Zankl, A.,
Ware, R., Pacey, V., Ault, J., Savarirayan, R.,
Sillence, D., Thompson, E., et al (2012).
Development in children with achondroplasia: a
prospective clinical cohort study. Developmental
Medicine and Child Neurology, 54(6), 532`-537.
<a
href="http://dx.doi.org/10.1111/j.1469-8749.201
2.04234.x">[More Information]</a>
Ireland, P., McGill, J., Zankl, A., Ware, R.,
Pacey, V., Ault, J., Savarirayan, R., Sillence, D.,
Thompson, E., Townshend, S., et al (2011).
Functional performance in young Australian
children with achondroplasia. Developmental
Medicine and Child Neurology, 53(10), 944-950.
<a
href="http://dx.doi.org/10.1111/j.1469-8749.201
1.04050.x">[More Information]</a>
Nizon, M., Huber, C., De Leonardis, F., Merrina,
R., Forlino, A., Fradin, M., Tuysuz, B.,
Abu-Libdeh, B., Alanay, Y., Albrecht, B.,
Sillence, D., et al (2012). Further Delineation of
CANT1 Phenotypic Spectrum and
Demonstration of Its Role in Proteoglycan
Synthesis. Human Mutation, 33(8), 1261-1266.
<a
href="http://dx.doi.org/10.1002/humu.22104">[
More Information]</a>
Gray, P., Sillence, D., Kakakios, A. (2011). Is
Roifman syndrome an X-linked ciliopathy with
humoral immunodeficiency? Evidence from 2
new cases. International Journal of
Immunogenetics, 38(6), 501-505. <a
href="http://dx.doi.org/10.1111/j.1744-313X.201
1.01041.">[More Information]</a>
Cheung, R., Sillence, D., Tchan, M. (2012).
Homocysteine and Erythrocyte Sedimentation
Rate Correlate with Cerebrovascular Disease in
Fabry Disease. In Society for the Study of
Inborn Errors of Metabolism (Eds.), JIMD
Reports - Case and Research Reports, 2012/3,
(pp. 101-105). New York: Springer.
Nizon, M., Alanay, Y., Tuysuz, B., Kiper, P.,
Genevieve, D., Sillence, D., Huber, C., Munnich,
A., Cormier-Daire, V. (2012). IMPAD1
Mutations in Two Catel-Manzke Like Patients.
American Journal of Medical Genetics. Part A,
158A (9), 2183-2187. <a
href="http://dx.doi.org/10.1002/ajmg.a.35504">[
More Information]</a>
Ireland, P., Johnson, S., Donaghey, S., Johnston,
L., Ware, R., Zankl, A., Pacey, V., Ault, J.,
Savarirayan, R., Sillence, D., et al (2012).
Medical management of children with
achondroplasia: Evaluation of an Australasian
cohort aged 0-5 years. Journal of Paediatrics
and Child Health, 48(5), 443-449. <a
href="http://dx.doi.org/10.1111/j.1440-1754.201
1.02255.x">[More Information]</a>
Geevasinga, N., Tchan, M., Sillence, D., Vucic,
S. (2012). Upregulation of inward rectifying
currents and Fabry disease neuropathy. Journal
of the Peripheral Nervous System, 17(4),
Tchan, M., Sillence, D. (2011). Fabry disease
and Factor V Leiden: a potent vascular risk
combination. Internal Medicine Journal, 41(5),
422-426. <a
href="http://dx.doi.org/10.1111/j.1445-5994.201
1.02483.x">[More Information]</a>
Warman, M., Cormier-Daire, V., Hall, C.,
Krakow, D., Lachman, R., LeMerrer, M.,
Mortier, G., Mundlos, S., Nishimura, G., et al,
Sillence, D. (2011). Nosology and Classification
of Genetic Skeletal
Disorders: 2010 Revision. American Journal of
Medical Genetics. Part A, 155A (5), 943-968. <a
href="http://dx.doi.org/10.1002/ajmg.a.33909">[
More Information]</a>
Tchan, M., Graf, N., Sillence, D. (2011).
Sub-pleural bullous changes in two adults with
Mucopolysaccharidosis type I (Hurler-Scheie).
Journal of Inherited Metabolic Disease (JIMD),
34(2), 547-548. <a
href="http://dx.doi.org/10.1007/s10545-010-927
3-5">[More Information]</a>
Tchan, M., Sillence, D., Devine, K. (2011).
Three adult siblings with Mucopolysaccharidosis
type II (Hunter syndrome): a report on clinical
heterogeneity and 12 months of therapy with
idursulfase. JIMD Reports, (pp. 57-64). Berlin:
Springer Verlag.
Andreucci, E., Aftimos, S., Alcausin, M., Haan,
E., Hunter, W., Kannu, P., Kerr, B., McGillivray,
G., McKinlay Gardner, R., Patricelli, M.,
Sillence, D., et al (2011). TRPV4 related skeletal
dysplasias: a phenotypic spectrum highlighted
byclinical, radiographic, and molecular studies in
21 new families. Orphanet Journal of Rare
Diseases, 6(1), A37-1-A37-8. <a
href="http://dx.doi.org/10.1186/1750-1172-6-37"
Publications for David Sillence
>[More Information]</a>
2010
Ireland, P., Johnson, S., Donaghey, S., Johnson,
L., McGill, J., Zankl, A., Ware, R., Pacey, V.,
Ault, J., Sillence, D., et al (2010). Developmental
milestones in infants and young Australasian
children with achondroplasia. Journal of
Developmental and Behavioral Pediatrics, 31(1),
41-47. <a
href="http://dx.doi.org/10.1097/DBP.0b013e318
1c72052">[More Information]</a>
Balasubramaniam, S., Bowling, F., Earl, J.,
Chaitow, J., Pitt, J., Mornet, E., Sillence, D.,
Ellaway, C. (2010). Perinatal hypophosphatasia
presenting as neonatal epileptic encephalopathy
with abnormal neurotransmitter metabolism
secondary to reduced co-factor
pyridoxal-5'-phosphate availability. Journal of
Inherited Metabolic Disease (JIMD). <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=20049532">[More Information]</a>
Unger, S., Lausch, E., Rossi, A., Megarbane, A.,
Sillence, D., Alcausin, M., Aytes, A.,
Mendoza-Londono, R., Nampoothiri, S., Afroze,
B., et al (2010). Phenotypic Features of
Carbohydrate
Sulfotransferase 3 (CHST3) Deficiency in 24
Patients: Congenital Dislocations and Vertebral
Changes as Principal Diagnostic Features.
American Journal of Medical Genetics. Part A,
152A (10), 2543-2549. <a
href="http://dx.doi.org/10.1002/ajmg.a.33641">[
More Information]</a>
David-Vizcarra, G., Briody, J., Ault, J., Fietz,
M., Fletcher, J., Savarirayan, R., Wilson, M.,
McGill, J., Edwards, M., Munns, C., Sillence, D.,
et al (2010). The natural history and
osteodystrophy of mucolipidosis types II and III.
Journal of Paediatrics and Child Health, 46(6),
316-322. <a
href="http://dx.doi.org/10.1111/j.1440-1754.201
0.01715.x">[More Information]</a>
Sparrow, D., Sillence, D., Wouters, M.,
Turnpenny, P., Dunwoodie, S. (2010). Two
novel missense mutations in
HAIRY-AND-ENHANCER-OF-SPLIT-7 in a
family with spondylocostal dysostosis. European
Journal of Human Genetics, 18(6), 674-679. <a
href="http://dx.doi.org/10.1038/ejhg.2009.241">
[More Information]</a>
2009
Huber, C., Delezoide, A., Guimiot, F., Baumann,
C., Malan, V., Le Merrer, M., Bezerra Da Silva,
D., Bonneau, D., Chatelain, P., Sillence, D., et al
(2009). A large-scale mutation search reveals
genetic heterogeneity in 3M syndrome.
European Journal of Human Genetics, 17(3),
395-400. <a
href="http://dx.doi.org/10.1038/ejhg.2008.200">
[More Information]</a>
Bijarnia, S., Vimpani, A., Smith, R., Pacey, V.,
O'Grady, H., Christodoulou, J., Sillence, D.
(2009). Combined enzyme replacement and
haematopoietic stem cell transplantation in
Hurler syndrome. Journal of Paediatrics and
Child Health, 45, 469-472. <a
href="http://dx.doi.org/10.1111/j.1440-1754.200
9.01537.x">[More Information]</a>
Ramjan, K., Roscioli, T., Rutsch, F., Sillence, D.,
Munns, C. (2009). Generalized arterial
calcification of infancy: treatment with
bisphosphonates. Nature clinical practice:
Endocrinology and metabolism, 5(3), 167-172.
<a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=19229237">[More Information]</a>
Reversade, B., Escande-Beillard, N.,
Dimopoulou, A., Fischer, B., Ch'ng, S., Li, Y.,
Shboul, M., Tham, P., et al, Sillence, D. (2009).
Mutations in PYCR1 cause cutis laxa with
progeroid features. Nature Genetics, 41(9),
1016-1021. <a
href="http://dx.doi.org/10.1038/ng.413">[More
Information]</a>
Tofts, L., Elliott, E., Munns, C., Pacey, V.,
Sillence, D. (2009). The differential diagnosis of
children with joint hypermobility: a review of the
literature. Pediatric Rheumatology Online
Journal, 7(1), 1-1-1-10. <a
href="http://dx.doi.org/10.1186/1546-0096-7-1"
>[More Information]</a>
Tinkle, B., Bird, H., Grahame, R., Lavallee, M.,
Levy, H., Sillence, D. (2009). The lack of
clinical distinction between the hypermobility
type of Ehlers-Danlos syndrome and the joint
hypermobility syndrome (a.k.a. hypermobility
syndrome). American Journal of Medical
Genetics. Part A, 149(11), 2368-2370. <a
href="http://dx.doi.org/10.1002/ajmg.a.33070">[
More Information]</a>
2008
Gleeson, H., Wiltshire, E., Briody, J., Hall, J.,
Chaitow, J., Sillence, D., Cowell, C., Munns, C.
(2008). Childhood chronic recurrent multifocal
osteomyelitis: pamidronate therapy decreases
pain and improves vertebral shape. Journal of
Rheumatology, 35(4), 707-712. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=18381777">[More Information]</a>
Kaplan, F., Xu, M., Glaser, D., Collins, F.,
Connor, M., Kitterman, J., Sillence, D., Zackai,
Publications for David Sillence
E., Ravitsky, V., Zasloff, M., et al (2008). Early
diagnosis of Fibrodysplasia Ossificans
Progressiva. Pediatrics, 121(5), e1295-e1300. <a
href="http://dx.doi.org/10.1542/peds.2007-1980"
>[More Information]</a>
2007
Ho, M., Tsang, K., Lo, R., Susic, M., Makitie,
O., Chan, T., Ng, V., Sillence, D.,
Boot-Handford, R., Gibson, G., et al (2007).
COL10A1 nonsense and frame-shift mutations
have a gain-of-function effect on the growth
plate in human and mouse metaphyseal
chondrodysplasia type Schmid. Human
Molecular Genetics, 16(10), 1201-1215. <a
href="http://dx.doi.org/10.1093/hmg/ddm067">[
More Information]</a>
Hoornaert, K., Marik, I., Kozlowski, K., Cole,
T., Merrer, M., Leroy, J., Coucke, P., Sillence,
D., Mortier, G. (2007). Czech dysplasia
metatarsal type: another type II collagen
disorder. European Journal of Human Genetics,
15(12), 1269-1275. <a
href="http://dx.doi.org/10.1038/sj.ejhg.5201913"
>[More Information]</a>
Martin, L., Sturgess, A., Sillence, D., Murrell, D.
(2007). Fabry disease in a heterozygote
presenting as hand ischaemia and painful
acroparaesthesia. Australasian Journal of
Dermatology, 48(1), 40-42. <a
href="http://dx.doi.org/10.1111/j.1440-0960.200
7.00326.x">[More Information]</a>
Eng, C., Fletcher, J., Wilcox, W., Waldek, S.,
Scott, C., Sillence, D., Breunig, F., Charrow, J.,
Germain, D., Nicholls, K., et al (2007). Fabry
disease: baseline medical characteristics of a
cohort of 1765 males and females in the Fabry
Registry. Journal of Inherited Metabolic Disease
(JIMD), 30(2), 184-192. <a
href="http://dx.doi.org/10.1007/s10545-007-052
1-2">[More Information]</a>
2006
Sparrow, D., Wouters, M., Whittock, N., Ellard,
S., Fatkin, D., Turnpenny, P., Kusumi, K.,
Dunwoodie, S., Sillence, D., Chapman, G.
(2006). Mutation of the LUNATIC FRINGE
gene in humans causes spondylocostal dysostosis
with a severe vertebral phenotype. American
Journal of Human Genetics, 78(1). <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=16385447">[More Information]</a>
Gabbett, M., Jones, K., Cowell, C., Sillence, D.,
Wilson, M. (2006). Neonatal severe
hyperparathyroidism: An important clue to the
aetiology. Journal of Paediatrics and Child
Health, 42(12), 813-816. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17096719">[More Information]</a>
2005
Gensure, R., Makitie, O., Barclay, C., Chan, C.,
DePalma, S., Bastepe, M., Abuzahra, H., Couper,
R., Mundlos, S., Sillence, D., et al (2005). A
novel COL1A1 mutation in infantile cortical
hyperostosis (Caffey disease) expands the
spectrum of collagen-related disorders. Journal
of Clinical Investigation, 115(5), 1250-1257. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15864348">[More Information]</a>
Bajaj, R., Smith, J., Trochet, D., Pitkin, J.,
Ouvrier, R., Graf, N., Sillence, D., Kluckow, M.
(2005). Congenital central hypoventilation
syndrome and Hirschsprung's disease in an
extremely preterm infant. Pediatrics, 115(6),
e737-e738. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15930201">[More Information]</a>
Fleming, F., Woodhead, H., Briody, J., Hall, J.,
Cowell, C., Ault, J., Kozlowski, K., Sillence, D.
(2005). Cyclic bisphosphonate therapy in
osteogenesis imperfecta type V. Journal of
Paediatrics and Child Health, 41(3), 147-151. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15790328">[More Information]</a>
Sillence, D., Grewal, S., Wynn, R., Abdenur, J.,
Burton, B., Gharib, M., Haase, C., Hayashi, R.,
Shenoy, S., Tiller, G., et al (2005). Safety and
efficacy of enzyme replacement therapy in
combination with hematopoietic stem cell
transplantation in Hurler syndrome. Genetics in
Medicine, 7(2), 143-146. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15714083">[More Information]</a>
Neas, K., Smith, J., Chia, N., Huseyin, S., St
Heaps, L., Sholler, G., Tzioumi, D., Sillence, D.,
Mowat, D. (2005). Three patients with terminal
deletions within the subtelomeric region of
chromosome 9q. American Journal of Medical
Genetics. Part A, 132(4), 425-30. <a
href="http://dx.doi.org/10.1002/ajmg.a.30496">[
More Information]</a>
2004
Hein, L., Bawden, M., Muller, V., Sillence, D.,
Hopwood, J., Brooks, D. (2004).
Alpha-L-Iduronidase Premature Stop Codons
And Potential Read-Through In
Mucopolysaccharidosis Type I Patients. Journal
of Molecular Biology, 338(3), 453-462. <a
href="http://dx.doi.org/10.1016/j.jmb.2004.03.01
2">[More Information]</a>
Publications for David Sillence
2003
Zealand Dental Journal, 97, 16-18.
Lam, W., Sillence, D., Chan, H. (2003).
Desbuquois syndrome: Clinical and radiological
report of the first two Chinese cases from a
consanguineous family. Journal of Paediatrics
and Child Health, 39(9), 707-712.
Sillence, D., Taillandier, A., Lia-Baldini,, A.,
Mouchard, M., Muller, F., Simon-Bouy, B.,
Serre, J., Bera-Louville, A., Bonduelle,, M.,
Eckhardt,, J., et al (2001). Twelve novel
mutations in the tissue-nonspecific alkaline
phosphatase gene (ALPL) in patients with
various forms of hypophosphatasia. Human
Mutation, 18, 83-84.
Van der Slot, A., Zuurmond, A., Bardoel, A.,
Wijmenga, C., Pruijs, H., Sillence, D.,
Brinckmann, J., Abraham, D., Black, C., Verzijl,
N., et al (2003). Identification of PLOD2 as
Telopeptide Lysyl Hydroxylase, an Important
Enzyme in Fibrosis. Journal of Biological
Chemistry, 278(42), 40967-40972.
Robinson, C., Sillence, D. (2003). The
osteodystrophy of mucolipidosis type III and the
effects of intravenous pamidronate treatment.
Journal of Inherited Metabolic Disease (JIMD),
11, 681-693.
2002
Kozlowski, K., Masel, J., Sillence, D., Arbuckle,
S., Juttnerova, V. (2002). Gracile bone
dysplasias. Pediatric Radiology: roentgenology,
nuclear medicine, ultrasonics, CT, MRI, 32(9),
629-634. <a
href="http://dx.doi.org/10.1007/s00247-002-071
9-2">[More Information]</a>
Beighton, P., Francomano, C., Giedion, A., Hall,
C., Hall, J., Horton, W., Kaitila, I., Krakow, D.,
Lachman, R., Sillence, D., et al (2002).
International nosology and classification of
constitutional disorders of bone (2001).
American Journal of Medical Genetics. Part A,
113(1), 65-77.
2001
Cowell, C., Sillence, D., Al-Agha,, A., Briody,
J., Hall, J., Anderson, D. (2001). Cyclic
intravenous Pamidronate therapy in chronic
recurrent multifocal osteomyelitis (CRMO): A
report of two cases. 6th Joint Meeting of the
Lawslon Wilkins Pediatric Endocrine Society &
the European Society for Paediatric
Endocrinology, : World Scientific Publishing.
Dahlstrom, J., Peek, M., Reynolds, G., Sillence,
D., Arbuckle, S., Kozlowski, K., Thomson, M.
(2001). Lethal prenatal onset infantile cortical
hyperostosis (Caffey disease). Pathology, 33,
521-525.
Cowell, C., Sillence, D., Hooper, M., Briody, J.,
Hall, J., Ault, J. (2001). Monthly versus second
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