Publications for Lesley Ades
Publications for Lesley Ades
ore Information]</a>
2016
2012
Friez, M., Brooks, S., Stevenson, R., Field, M.,
Basehore, M., Ades, L., Sebold, C., Mcgee, S.,
Saxon, S., Craig, M., et al (2016). HUWE1
mutations in Juberg-Marsidi and Brooks
syndromes: The results of an X-chromosome
exome sequencing study. BMJ Open, 6(4), 1-9.
<a
href="http://dx.doi.org/10.1136/bmjopen-2015-0
09537">[More Information]</a>
Faivre, L., Collod-Beroud, G., Ades, L.,
Arbustini, E., Child, A., Callewaert, B., Loeys,
B., Binquet, C., Gautier, E., Mayer, K., et al
(2012). The new Ghent criteria for Marfan
syndrome: What do they change? Clinical
Genetics, 81(5), 433-442. <a
href="http://dx.doi.org/10.1111/j.1399-0004.201
1.01703.x">[More Information]</a>
Briggs, T., Rice, G., Adib, N., Ades, L., Barète,
S., Baskar, K., Baudouin, V., Cebeci, A.,
Clapuyt, P., Coman, D., et al (2016).
Spondyloenchondrodysplasia Due to Mutations
in ACP5: A Comprehensive Survey. Journal of
Clinical Immunology, 36(3), 220-234. <a
href="http://dx.doi.org/10.1007/s10875-016-025
2-y">[More Information]</a>
Talkowski, M., Mullegama, S., Rosenfeld, J.,
van Bon, B., Shen, Y., Repnikova, E.,
Gastier-Foster, J., Thrush, D., Kathiresan, S.,
Ruderfer, D., Ades, L., et al (2011). Assessment
of 2q23.1 Microdeletion Syndrome Implicates
MBD5 as a Single Causal Locus of Intellectual
Disability, Epilepsy, and Autism Spectrum
Disorder. American Journal of Human Genetics,
89, 551-563. <a
href="http://dx.doi.org/10.1016/j.ajhg.2011.09.0
11">[More Information]</a>
Zhang, J., Barbaro, P., Guo, Y., Alodaib, A., Li,
J., Gold, W., Ades, L., Keating, B., Xu, X., Teo,
J., Christodoulou, J., et al (2016). Utility of
next-generation sequencing technologies for the
efficient genetic resolution of haematological
disorders. Clinical Genetics, 89(2), 163-172. <a
href="http://dx.doi.org/10.1111/cge.12573">[Mo
re Information]</a>
2015
Basart, H., van de Kar, A., Ades, L., Cho, T.,
Carter, E., Maas, S., Wilson, L., van der Horst,
C., Wade, E., Robertson, S., et al (2015).
Frontometaphyseal Dysplasia and Keloid
Formation without FLNA Mutations. American
Journal of Medical Genetics. Part A, 167(6),
1215-1222. <a
href="http://dx.doi.org/10.1002/ajmg.a.37044">[
More Information]</a>
2014
Murray, J., Bicknell, L., Yigit, G., Duker, A.,
Van Kogelenberg, M., Haghayegh, S.,
Wieczorek, D., Kayserili, H., Albert, M., Wise,
C., Ades, L., Ma, A., et al (2014). Extreme
growth failure is a common presentation of
ligase IV deficiency. Human Mutation, 35(1),
76-85. <a
href="http://dx.doi.org/10.1002/humu.22461">[
More Information]</a>
2013
Alders, M., Mendola, A., Ades, L., Al-Gazali, L.,
Bellini, C., Dallapiccola, B., Edery, P., Frank,
U., Hornshuh, F., Huisman, S., et al (2013).
Evaluation of clinical manifestations in patients
with severe lymphedema with and without
CCBE1 mutations. Molecular Syndromology,
4(3), 107-113. <a
href="http://dx.doi.org/10.1159/000342486">[M
2011
Stheneur, C., Faivre, L., Collod-Beroud, G.,
Gautier, E., Binquet, C., Bonithon-Kopp, C.,
Claustres, M., Child, A., Arbustini, E., Ades, L.,
et al (2011). Prognosis Factors in Probands With
an FBN1 Mutation Diagnosed Before the Age of
1 Year. Pediatric Research: international
journal of human developmental biology, 69(3),
265-270. <a
href="http://dx.doi.org/10.1203/PDR.0b013e318
2097219">[More Information]</a>
2010
Renard, M., Holm, T., Veith, R., Callewaert, B.,
Ades, L., Baspinar, O., Pickart, A., Dasouki, M.,
Hoyer, J., Rauch, A., et al (2010). Altered
TGFbeta signaling and cardiovascular
manifestations in patients with autosomal
recessive cutis laxa type I caused by fibulin-4
deficiency. European Journal of Human
Genetics, 18(8), 895-901. <a
href="http://dx.doi.org/10.1038/ejhg.2010.45">[
More Information]</a>
Detaint, D., Faivre, L., Collod-Beroud, G., Child,
A., Loeys, B., Binquet, C., Gautier, E., Arbustini,
E., Mayer, K., Arslan-Kirchner, M., Ades, L., et
al (2010). Cardiovascular manifestations in men
and women carrying a FBN1 mutation.
European Heart Journal, 31(18), 2223-2229. <a
href="http://dx.doi.org/10.1093/eurheartj/ehq258
">[More Information]</a>
Milewicz, D., Ostergaard, J., Ala-Kokko, L.,
Khan, N., Grange, D., Mendoza-Londono, R.,
Bradley, T., Haskins Olney, A., Ades, L., Maher,
J., et al (2010). De novo ACTA2 mutation causes
a novel syndrome of multisystemic smooth
Publications for Lesley Ades
muscle dysfunction. American Journal of
Medical Genetics. Part A, 152A (10),
2437-2443. <a
href="http://dx.doi.org/10.1002/ajmg.a.33657">[
More Information]</a>
van Bon, B., Koolen, D., Brueton, L., McMullan,
D., Lichtenbelt, K., Ades, L., Peters, G., Gibson,
K., Novara, F., Pramparo, T., Wilson, M., et al
(2010). The 2q23.1 microdeletion syndrome:
clinical and behavioural phenotype. European
Journal of Human Genetics, 18(2), 163-170. <a
href="http://dx.doi.org/10.1038/ejhg.2009.152">
[More Information]</a>
2009
Faivre, L., Masurel-Paulet, A., Collod-Beroud,
G., Callewaert, B., Child, A., Stheneur, C.,
Binquet, C., Gautier, E., Chevallier, B., Huet, F.,
Ades, L., et al (2009). Clinical and molecular
study of 320 children with Marfan syndrome and
related type I fibrillinopathies in a series of 1009
probands with pathogenic FBN1 mutations.
Pediatrics, 123(1), 391-398. <a
href="http://dx.doi.org/10.1542/peds.2008-0703"
>[More Information]</a>
Faivre, L., Collod-Beroud, G., Callewaert, B.,
Child, A., Binquet, C., Gautier, E., Loeys, B.,
Arbustini, E., Mayer, K., Arslan-Kirchner, M.,
Ades, L., et al (2009). Clinical and mutation-type
analysis from an international series of 198
probands with a pathogenic FBN1 exons 24-32
mutation. European Journal of Human Genetics,
17(4), 491-501. <a
href="http://dx.doi.org/10.1038/ejhg.2008.207">
[More Information]</a>
Aldinger, K., Lehmann, O., Hudgins, L.,
Chizhikov, V., Bassuk, A., Ades, L., Krantz, I.,
Dobyns, W., Millen, K. (2009). FOXC1 is
required for normal cerebellar development and
is a major contributor to chromosome 6p25.3
Dandy-Walker malformation. Nature Genetics,
41(9), 1037-U116. <a
href="http://dx.doi.org/10.1038/ng.422">[More
Information]</a>
Jenkins, Z., van Kogelenberg, M., Morgan, T.,
Jeffs, A., Fukuzawa, R., Pearl, E., Thaller, C.,
Hing, A., Porteous, M., Ades, L., Tchan, M., et
al (2009). Germline mutations in WTX cause a
sclerosing skeletal dysplasia but do not
predispose to tumorigenesis. Nature Genetics,
41(1), 95-100. <a
href="http://dx.doi.org/10.1038/ng.270">[More
Information]</a>
Faivre, L., Collod-Beroud, G., Callewaert, B.,
Child, A., Loeys, B., Binquet, C., Gautier, E.,
Arbustini, E., Mayer, K., Arslan-Kirchner, M.,
Ades, L., et al (2009). Pathogenic FBN1
Mutations in 146 Adults Not Meeting Clinical
Diagnostic Criteria for Marfan Syndrome:
Further Delineation of Type 1 Fibrillinopathies
and Focus on Patients With an Isolated Major
Criterion. American Journal of Medical
Genetics. Part A, 149A (5), 854-860. <a
href="http://dx.doi.org/10.1002/ajmg.a.32809">[
More Information]</a>
2008
Faivre, L., Collod-Beroud, G., Child,, A.,
Callewaert, B., Loeys, B., Binquet, C., Gautier,
E., Arbustini, E., Mayer, K., Arslan-Kirchner,
M., Ades, L., et al (2008). Contribution of
molecular analyses in diagnosing Marfan
syndrome and type I fibrillinopathies: an
international study of 1009 probands. Journal of
Medical Genetics, 45(6), 384-390. <a
href="http://dx.doi.org/10.1136/jmg.2007.05638
2">[More Information]</a>
Jaeckle Santos, L., Xing, C., Barnes, R., Ades,
L., Megarbane, A., Vidal, C., Xuereb, A.,
Tarpey, P., Smith, R., Khazab, M., et al (2008).
Refined mapping of X-linked reticulate
pigmentary disorder and sequencing of candidate
genes. Human Genetics, 123(5), 469-476. <a
href="http://dx.doi.org/10.1007/s00439-008-049
8-4">[More Information]</a>
2007
Jatana, V., Gillis, J., Webster, B., Ades, L.
(2007). Deletion 22q11.2 syndrome-Implications
for the intensive care physician. Pediatric
Critical Care Medicine, 8(5), 459-463. <a
href="http://dx.doi.org/10.1097/01.PCC.0000282
177.88809.F8">[More Information]</a>
Jatana, V., Gillis, J., Webster, B., Ades, L.
(2007). Deletion 22q11.2 syndrome-Implications
for the intensive care physician. Pediatric
Critical Care Medicine, 8(5), 459-463.
Maclean, K., Holme, S., Gilmour, E., Taylor, M.,
Scheffer, H., Smith, G., Onikul, E., van
Bokhoven, H., Moss, C., Ades, L., et al (2007).
EEC syndrome, Arg227Gln TP63 mutation and
micturition difficulties: Is there a
genotype-phenotype correlation? American
Journal of Medical Genetics. Part A, 143(10),
1114-1119. <a
href="http://dx.doi.org/10.1002/ajmg.a.31664">[
More Information]</a>
Faivre, L., Collod-Beroud, G., Loeys, B., Child,
A., Binquet, C., Gautier, E., Callewaert, B.,
Arbustini, E., Mayer, K., Ades, L., et al (2007).
Effect of Mutation Type and Location on
Clinical Outcome in 1,013 Probands with Marfan
Syndrome or Related Phenotypes and FBN1
Mutations: An International Study. American
Journal of Human Genetics, 81(3), 454-466. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17701892">[More Information]</a>
Publications for Lesley Ades
Ades, L. (2007). Guidelines for the Diagnosis
and Management of Marfan Syndrome. Heart,
Lung and Circulation, 16(1), 28-30. <a
href="http://dx.doi.org/10.1016/j.hlc.2006.10.02
2">[More Information]</a>
Uyanik, G., Morris-Rosendahl, D., Stiegler, J.,
Klapecki, J., Gross, C., Berman, Y., Martin, P.,
Dey, L., Spranger, S., Korenke, G., Ades, L., et
al (2007). Location and type of mutation in the
LIS1 gene do not predict phenotypic severity.
Neurology, 69(5), 442-447. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17664403">[More Information]</a>
microdeletion syndrome. American Journal of
Medical Genetics. Part A, 132a (4), 381-385. <a
href="http://dx.doi.org/10.1002/ajmg.a.30274">[
More Information]</a>
Milledge, J., Ades, L., Cooper, M., Jaumees, A.,
Onikul, E. (2005). Severe spontaneous
intracranial hypotension and Marfan syndrome in
an adolescent. Journal of Paediatrics and Child
Health, 41(1-2), 68-71. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=15670230">[More Information]</a>
2004
Guo, D., Pannu, H., Tran-Fadulu, V., Papke, C.,
Yu, R., Avidan, N., Bourgeois, S., Estrera, A.,
Safi, H., Ades, L., et al (2007). Mutations in
smooth muscle alpha-actin (ACTA2) lead to
thoracic aortic aneurysms and dissections.
Nature Genetics, 39(12), 1488-1493. <a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17994018">[More Information]</a>
Biggin, A., Holman, K., Brett, M., Bennetts, B.,
Ades, L. (2004). Detection Of Thirty Novel
FBN1 Mutations In Patients With Marfan
Syndrome Or A Related Fibrillinopathy. Human
Mutation, 23(1), 99-106.
Tay, T., Smith, J., Berman, Y., Ades, L.,
Missotte, I., Saglibene, H., Martin, F., Mitchell,
P., Taylor, D. (2007). Nanophthalmos in a
Melanesian population. Clinical and
Experimental Ophthalmology, 35(4), 348-354.
<a
href="http://www.ncbi.nlm.nih.gov/entrez/query.
fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract
&list_uids=17539787">[More Information]</a>
Balmer, R., Cameron, A., Ades, L., Aldred, M.
(2004). Enamel Defects And Lyonization In
Focal Dermal Hypoplasia. Oral Surgery, Oral
Medicine, Oral Pathology, Oral Radiology,
98(6), 686-691.
2006
Ades, L., Sullivan, K., Biggin, A., Haan, E.,
Brett, M., Holman, K., Dixon, J., Robertson, S.,
Holmes, A., Rogers, J., Bennetts, B. (2006).
FBN1, TGFBR1, and the
Marfan-craniosynostosis/mental retardation
disorders revisited. American Journal of Medical
Genetics. Part A, 140(10), 1047-1058. <a
href="http://dx.doi.org/10.1002/ajmg.a.31202">[
More Information]</a>
Robertson, S., Jenkins, Z., Morgan, T., Ades, L.,
Aftimos, S., Boute, O., Fiskerstrand, T.,
Garcia-Miñaur, S., Grix, A., Green, A., et al
(2006). Frontometaphyseal dysplasia: mutations
in FLNA and phenotypic diversity. American
Journal of Medical Genetics. Part A, 140(16),
1726-1736. <a
href="http://dx.doi.org/10.1002/ajmg.a.31322">[
More Information]</a>
2005
Maclean, K., Smith, J., St Heaps, L., Chia, N.,
Williams, R., Peters, G., Onikul, E., McCrossin,
T., Lehmann, O., Ades, L. (2005).
Axenfeld-Rieger malformation and distinctive
facial features: Clues to a recognizable 6p25
Ades, L., Holman, K., Brett, M., Edwards, M.,
Bennetts, B. (2004). Ectopia Lentis Phenotypes
And The Fbn1 Gene. American Journal of
Medical Genetics. Part A, 126A (3), 284-289.
Daniel, A., Wu, Z., Darmanian, A., Malafiej, P.,
Tembe, V., Peters, G., Kennedy, C., Ades, L.
(2004). Issues Arising From The Prenatal
Diagnosis Of Some Rare Trisomy Mosaics--The
Importance Of Cryptic Fetal Mosaicism.
Prenatal diagnosis, 24(7), 524-536. <a
href="http://dx.doi.org/10.1002/pd.936">[More
Information]</a>
Colige, A., Nuytinck, L., Hausser, I., van Essen,
A., Thiry, M., Herens, C., Ades, L., Malfait, F.,
De Paepe, A., Franck, P., et al (2004). Novel
Types Of Mutation Responsible For The
Dermatosparactic Type Of Ehlers-Danlos
Syndrome (Type Viic) And Common
Polymorphisms In The Adamts2 Gene. Journal
of Investigative Dermatology, 123(4), 656-663.
Whitelaw, C., Anwar, S., Ades, L., Gole, G.,
Elder, J., Savarirayan, R. (2004). Primary
Trabeculodysgenesis In Association With
Neonatal Marfan Syndrome. American Journal
of Medical Genetics. Part A, 128A (4), 418-421.
Sinnerbrink, I., Ades, L. (2004). Short Stature,
Sensorineural Deafness, Ocular Abnormalities
And Severe Mental Retardation In Two Siblings.
A New Syndrome? Clinical Dysmorphology,
13(3), 173-177.
2003
Neas, K., Chia, N., Clarke, M., Peters, G., Ades,
L. (2003). A case of partial trisomy 4p syndrome
Publications for Lesley Ades
presenting as severe hydronephrosis in utero.
Clinical Dysmorphology, 11, 179-181.
Field, M., Grattan-Smith, P., Piper, S.,
Thompson, E., Haan, E., Edwards, M., James, S.,
Wilkinson,, I., Ades, L. (2003). PEHO and
PEHO-like syndromes. Report of five Australian
cases. American Journal of Medical Genetics.
Part A, 122A (1), 6-12.
Daniel, A., Baker, E., Chia, N., Haan, E.,
Malafiej, P., Hinton, L., Clarke, N., Ades, L.,
Darmanian, A., Callen, D. (2003). Recombinants
of intrachromosomal transposition of
subtelomeres in chromosomes 1 and 2. A cause
of minute terminal chromosomal imbalances.
American Journal of Medical Genetics. Part A,
117A (1), 57-64.
Ades, L., White, S., Amor, D., Liebelt, J.,
Bankier, A., Baker, E., Wilson, M., Savarirayan,
R. (2003). Two further cases of Ohdo syndrome
delineate the phenotypic variability of the
condition. Clinical Dysmorphology, 12(2),
109-113.
Collod-Beroud, G., Le Bourdelles, S., Ades, L.,
Ala-Kokko, L., Booms, P., Boxer, M., Child, A.,
Comeglio, P., De Paepe, A., Hyland, J., et al
(2003). Update of the UMD-FBN1 mutation
database and creation of an FBN1 polymorphism
database. Human Mutation, 22(3), 199-208. <a
href="http://dx.doi.org/10.1002/humu.10249">[
More Information]</a>
2002
Ades, L., Sreetharan, D., Onikul, E., Stockton,
V., Watson, K., Holman, K. (2002). Segregation
of Novel FBN1 Gene Mutation, G1796E, with
Kyphoscoliosis and radiographic evidence of
vertebral dysplasia in three generations.
American Journal of Medical Genetics. Part A,
109(4), 261-270.
Kamei, M., Ades, L., Eyre, H., Callen, D.,
Campbell, H. (2002). SOLH, a human
homologue of the Drosophila Melanogaster
small optic lobes gene is deleted in ATR-16
syndrome. Applied Genomics and Proteomics,
1(1), 65-71.
Gupta, P., Putnam, E., Carmical, S., Kaitila, I.,
Steinmann, B., Child, A., Danesino, C.,
Metcalfe, K., Berry, S., Chen, E., Ades, L., et al
(2002). Ten Novel FBN2 Mutations in
Congenital
Contractural Arachnodactyly: Delineation of the
Molecular Pathogenesis and Clinical Phenotype.
Human Mutation, 19(1), 39-48.
2000
Reardon, W., Smith, A., Honour, J., Hindmarsh,
P., Das, D., Rumsby, G., Nelson, I., Malcolm, S.,
Ades, L., Sillence, D., et al (2000). Evidence for
digenic inheritance in some cases of
Antley-Bixler syndrome? Journal of Medical
Genetics, 37, 26-32.
Gecz, J., Fontes, M., Ades, L., Villard, L. (2000).
Identification of a mutation in the XNP/ATR-X
gene in a family reported as
Smith-Fineman-Myers Syndrome. American
Journal of Medical Genetics. Part A, 91(1),
83-85.
Robertson, S., Gattas, M., Rogers, M., Ades, L.
(2000). Macrocephaly - cutis marmorata
telangiectatica congenita: report of five patients
and a review of the literature. Clinical
Dysmorphology, 9, 1-9.
Gripp, K., Wootton, D., Edwards, M., Roessler,
E., Ades, L., Meinecke, P., Riches, J., Zakai, E.,
Massague, J., Muenke, M., et al (2000).
Mutations in TGIF cause holoprosencephaly and
link NODAL signalling to human neural axis
determination. Nature Genetics, 25(2), 205-208.