A L Beaudet
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Explore the profile of A L Beaudet including associated specialties, affiliations and a list of published articles.
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233
Citations
7571
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Recent Articles
1.
Gillentine M, Berry L, Goin-Kochel R, Ali M, Ge J, Guffey D, et al.
J Autism Dev Disord
. 2017 Feb;
47(3):563.
PMID: 28168676
No abstract available.
2.
Nambot S, Gavrilov D, Thevenon J, Bruel A, Bainbridge M, Rio M, et al.
Clin Genet
. 2017 Feb;
92(2):188-198.
PMID: 28155230
Background: Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous...
3.
Gillentine M, Berry L, Goin-Kochel R, Ali M, Ge J, Guffey D, et al.
J Autism Dev Disord
. 2016 Nov;
47(3):549-562.
PMID: 27853923
Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs),...
4.
Schaaf C, Scott D, Wiszniewska J, Beaudet A
Lancet
. 2011 Feb;
377(9765):555-6.
PMID: 21315943
No abstract available.
5.
Dhar S, Del Gaudio D, German J, Peters S, Ou Z, Bader P, et al.
Am J Med Genet A
. 2010 Feb;
152A(3):573-81.
PMID: 20186804
The 22q13.3 deletion syndrome results from loss of terminal segments of varying sizes at 22qter. Few genotype-phenotype correlations have been found but all patients have mental retardation and severe delay,...
6.
Ben-Shachar S, Lanpher B, German J, Qasaymeh M, Potocki L, Nagamani S, et al.
J Med Genet
. 2009 Mar;
46(6):382-8.
PMID: 19289393
Background: Microdeletions within chromosome 15q13.3 are associated both with a recently recognised syndrome of mental retardation, seizures, and dysmorphic features, and with schizophrenia. Methods And Results: Based on routine diagnostic...
7.
Sahoo T, Peters S, Madduri N, Glaze D, German J, Bird L, et al.
J Med Genet
. 2005 Sep;
43(6):512-6.
PMID: 16183798
Background: Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, dysmorphic features, ataxia, seizures, and typical behavioural characteristics, including a happy sociable disposition. AS is caused by...
8.
Peters S, Beaudet A, Madduri N, Bacino C
Clin Genet
. 2004 Nov;
66(6):530-6.
PMID: 15521981
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe mental retardation, ataxia, and a happy/sociable disposition. Maternally, but not paternally, derived defects, such as duplications, within the AS critical...
9.
Shaw C, Shaw C, Yu W, Stankiewicz P, White L, Beaudet A, et al.
J Med Genet
. 2004 Feb;
41(2):113-9.
PMID: 14757858
Background: Proximal chromosome 17p is a region rich in low copy repeats (LCRs) and prone to chromosomal rearrangements. Four genomic disorders map within the interval 17p11-p12: Charcot-Marie-Tooth disease type 1A,...
10.
Bercovich D, Beaudet A
Genet Test
. 2003 Dec;
7(3):189-94.
PMID: 14641994
Angelman syndrome (AS) is caused by maternal deficiency of UBE3A, the gene encoding E6-AP ubiquitin-protein ligase. Our objectives were to develop conditions for denaturing high-performance liquid chromatography (dHPLC) analysis of...