Connection

FERNANDO SCAGLIA to In Situ Hybridization, Fluorescence

This is a "connection" page, showing publications FERNANDO SCAGLIA has written about In Situ Hybridization, Fluorescence.
  1. Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. Genet Med. 2012 Oct; 14(10):868-76.
    View in: PubMed
    Score: 0.087
  2. The Xp contiguous deletion syndrome and autism. Am J Med Genet A. 2009 Jun; 149A(6):1138-48.
    View in: PubMed
    Score: 0.070
  3. Attenuated phenotype in a child with trisomy for 1q due to unbalanced X;1 translocation [46,X,der(X),t(X;1)(q28;q32.1)]. Am J Med Genet A. 2004 Jul 01; 128A(1):72-7.
    View in: PubMed
    Score: 0.050
  4. Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. Am J Med Genet A. 2012 Aug; 158A(8):1891-6.
    View in: PubMed
    Score: 0.022
  5. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan; 33(1):165-79.
    View in: PubMed
    Score: 0.021
  6. Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 2011 Sep 16; 146(6):889-903.
    View in: PubMed
    Score: 0.021
  7. Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping. Hum Genet. 2009 Oct; 126(4):589-602.
    View in: PubMed
    Score: 0.018
  8. Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. J Med Genet. 2005 Apr; 42(4):328-35.
    View in: PubMed
    Score: 0.013
  9. Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement. Ann Neurol. 2001 Dec; 50(6):747-54.
    View in: PubMed
    Score: 0.010
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.