Judith E Allanson
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Explore the profile of Judith E Allanson including associated specialties, affiliations and a list of published articles.
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35
Citations
1148
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Recent Articles
1.
Carroll J, Grad R, Allanson J, Pluye P, Permaul J, Pimlott N, et al.
J Contin Educ Health Prof
. 2016 Sep;
36(3):178-85.
PMID: 27583994
Introduction: Primary care providers (PCP) will need to be integrally involved in the delivery of genomic medicine. The GenetiKit trial demonstrated effectiveness of a knowledge translation intervention on family physicians'...
2.
Wilson B, Islam R, Francis J, Grimshaw J, Permaul J, Allanson J, et al.
Eur J Hum Genet
. 2016 Jun;
24(11):1541-1546.
PMID: 27329737
Evidence indicates that many barriers exist to the integration of genetic case finding into primary care. We conducted an exploratory study of the determinants of three specific behaviours related to...
3.
Allanson J
Am J Med Genet A
. 2016 May;
170(10):2570-7.
PMID: 27155212
Noonan, Cardio-facio-cutaneous, and Costello syndromes are disorders of the Ras/MAPK pathway that share many clinical features. This observational and anthropometric study was conducted to describe the key facial features of...
4.
Kruszka P, Li D, Harr M, Wilson N, Swarr D, McCormick E, et al.
J Med Genet
. 2014 Nov;
52(2):104-10.
PMID: 25412741
Background: Opitz G/BBB syndrome is a heterogeneous disorder characterised by variable expression of midline defects including cleft lip and palate, hypertelorism, laryngealtracheoesophageal anomalies, congenital heart defects, and hypospadias. The X-linked...
5.
Peddibhotla S, Nagamani S, Erez A, Hunter J, Lloyd Holder Jr J, Carlin M, et al.
Eur J Hum Genet
. 2014 Apr;
23(1):54-60.
PMID: 24736736
Patients with terminal deletions of chromosome 6q present with structural brain abnormalities including agenesis of corpus callosum, hydrocephalus, periventricular nodular heterotopia, and cerebellar malformations. The 6q27 region harbors genes that...
6.
Baker M, Strongosky A, Sanchez-Contreras M, Yang S, Ferguson W, Calne D, et al.
Neurogenetics
. 2013 Oct;
15(1):23-30.
PMID: 24135862
Idiopathic basal ganglia calcification (IBGC) is characterized by bilateral calcification of the basal ganglia associated with a spectrum of neuropsychiatric and motor syndromes. In this study, we set out to...
7.
Hennekam R, Biesecker L, Allanson J, Hall J, Opitz J, Temple I, et al.
Am J Med Genet A
. 2013 Oct;
161A(11):2726-33.
PMID: 24124000
An international group of clinicians working in the field of dysmorphology has established a process for the standardization of terms used to describe human morphology. The goals are to standardize...
8.
Hennekam R, Allanson J, Biesecker L, Carey J, Opitz J, Vilain E
Am J Med Genet A
. 2013 May;
161A(6):1238-63.
PMID: 23650202
An international group of clinicians working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. The goals are to standardize these terms and...
9.
Nikkel S, Dauber A, de Munnik S, Connolly M, Hood R, Caluseriu O, et al.
Orphanet J Rare Dis
. 2013 Apr;
8:63.
PMID: 23621943
Background: Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to...
10.
Roberts A, Allanson J, Tartaglia M, Gelb B
Lancet
. 2013 Jan;
381(9863):333-42.
PMID: 23312968
Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that...