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D Allingham-Hawkins

Explore the profile of D Allingham-Hawkins including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 5
Citations 174
Followers 0
Related Specialties
Genetics
Oncology
Top 10 Co-Authors
B Fernandez
W Meschino
M Klein
A Summers
R F Kooy
J Schween
H A Lubs
D MacGregor
G Glendon
W T Brown
Published In
Am J Med Genet
Clin Genet
J Natl Cancer Inst
Affiliations
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Recent Articles
1.
WDR45B-related intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia: A consistent neurodevelopmental syndrome
Suleiman J, Allingham-Hawkins D, Hashem M, Shamseldin H, Alkuraya F, El-Hattab A
Clin Genet . 2017 May; 93(2):360-364. PMID: 28503735
The advancement in genomic sequencing has greatly improved the diagnostic yield for neurodevelopmental disorders and led to the discovery of large number of novel genes associated with these disorders. WDR45B...
2.
Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000
Creighton S, Almqvist E, MacGregor D, Fernandez B, Hogg H, Beis J, et al.
Clin Genet . 2003 Jun; 63(6):462-75. PMID: 12786753
Predictive and pre-natal testing for Huntington's Disease (HD) has been available since 1987. Initially this was offered by linkage analysis, which was surpassed by the advent of the direct mutation...
3.
Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer
Warner E, Foulkes W, Goodwin P, Meschino W, Blondal J, Paterson C, et al.
J Natl Cancer Inst . 1999 Jul; 91(14):1241-7. PMID: 10413426
Background: Approximately 2.0%-2.5% of Ashkenazi Jewish women carry one of three founding mutations in the BRCA1 and BRCA2 genes, and each mutation is associated with a high lifetime risk of...
4.
Compound heterozygosity for the Achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome
Chitayat D, Fernandez B, Gardner A, Moore L, Glance P, Dunn M, et al.
Am J Med Genet . 1999 Jun; 84(5):401-5. PMID: 10360393
We report on a male newborn infant, a compound carrier of heterozygous mutations in the FGFR3 gene causing achondroplasia and hypochondroplasia. The mother has achondroplasia and carries the common G1138...
5.
Eighth International workshop on the fragile X syndrome and X-linked mental retardation, August 16-22, 1997
Holden J, PERCY M, Allingham-Hawkins D, Brown W, Chiurazzi P, Fisch G, et al.
Am J Med Genet . 1999 Apr; 83(4):221-36. PMID: 10208154
No abstract available.