JOHN BELMONT to Chromosome Deletion
This is a "connection" page, showing publications JOHN BELMONT has written about Chromosome Deletion.
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SNP genotyping to screen for a common deletion in CHARGE syndrome. BMC Med Genet. 2005 Feb 14; 6:8.
Score: 0.174
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Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum. Genet Med. 2019 07; 21(7):1652-1656.
Score: 0.114
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Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion. Am J Med Genet A. 2011 Sep; 155A(9):2215-20.
Score: 0.068
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22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome. Am J Hum Genet. 2008 Jan; 82(1):214-21.
Score: 0.053
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Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007 Oct; 72(4):329-38.
Score: 0.052
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De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. Orphanet J Rare Dis. 2015 Jun 14; 10:75.
Score: 0.022
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41.
Score: 0.015
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Mild phenotypic effects of a de novo deletion Xpter-->Xp22.3 and duplication 3pter-->3p23. Am J Med Genet. 1995 Mar 13; 56(1):16-21.
Score: 0.005