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
11.
Hall J, Allanson J, Gripp K, Slavotinek A
Am J Med Genet A
. 2012 Oct;
158A(11):2645-6.
PMID: 23038170
No abstract available.
12.
Al-Mohaissen M, Allanson J, OConnor M, Veinot J, Brandys T, Maharajh G, et al.
Vasc Med
. 2012 Sep;
17(5):326-9.
PMID: 22946110
Mutations of the ACTA2 gene, which encodes the smooth muscle cell-specific isoform of α-actin protein, have recently been found to be among the most common genetic abnormalities observed in patients...
13.
Al-Hertani W, McGowan-Jordan J, Allanson J
Am J Med Genet A
. 2012 May;
158A(6):1452-4.
PMID: 22585428
We report on a girl with trisomy 12 mosaicism diagnosed postnatally. She has been followed from 4 months of age for developmental delay, unilateral sensorineural hearing loss, intestinal malrotation, hemi-hyperplasia,...
14.
Nowaczyk M, Tan M, Hamid J, Allanson J
Am J Med Genet A
. 2012 Mar;
158A(5):1020-8.
PMID: 22438180
Smith-Lemli-Opitz syndrome (SLOS), is an autosomal recessive condition caused by cholesterol synthesis deficiency which results in a wide phenotypic spectrum which includes multiple malformations, distinctive facial appearance, and intellectual disability....
15.
Carey J, Allanson J, Hennekam R, Biesecker L
Hum Mutat
. 2012 Feb;
33(5):781-6.
PMID: 22331827
In 2005, the authors of this article formed an international working group to develop standardized definitions and terms to describe the physical variations used in human phenotypic analyses. This project,...
16.
Allanson J, Hennekam R, Moog U, Smeets E
Am J Med Genet A
. 2011 Jun;
155A(7):1563-7.
PMID: 21626673
Rett syndrome is a unique disorder of neurodevelopment that is characterized by an evolving behavioral and developmental phenotype, which emerges after an apparently normal early infantile period. It almost exclusively...
17.
Allanson J, Anneren G, Aoki Y, Armour C, Bondeson M, Cave H, et al.
Am J Med Genet C Semin Med Genet
. 2011 Apr;
157C(2):129-35.
PMID: 21495173
Cardio-facio-cutaneous (CFC) syndrome is a sporadic multiple congenital anomalies/mental retardation condition principally caused by mutations in BRAF, MEK1, and MEK2. Mutations in KRAS and SHOC2 lead to a phenotype with...
18.
Romano A, Allanson J, Dahlgren J, Gelb B, Hall B, Pierpont M, et al.
Pediatrics
. 2010 Sep;
126(4):746-59.
PMID: 20876176
Noonan syndrome (NS) is a common, clinically and genetically heterogeneous condition characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other comorbidities. Gene mutations identified in...
19.
Allanson J, Bohring A, Dorr H, Dufke A, Gillessen-Kaesbach G, Horn D, et al.
Am J Med Genet A
. 2010 Jul;
152A(8):1960-6.
PMID: 20602484
The facial photographs of 81 individuals with Noonan syndrome, from infancy to adulthood, have been evaluated by two dysmorphologists (JA and MZ), each of whom has considerable experience with disorders...
20.
Rauen K, Schoyer L, McCormick F, Lin A, Allanson J, Stevenson D, et al.
Am J Med Genet A
. 2009 Dec;
152A(1):4-24.
PMID: 20014119
The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Some of these syndromes are neurofibromatosis...