FERNANDO SCAGLIA to Developmental Disabilities
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Developmental Disabilities.
Connection Strength
1.522
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Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension. Am J Med Genet A. 2020 04; 182(4):755-761.
Score: 0.453
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Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty. Am J Med Genet A. 2009 May; 149A(5):993-6.
Score: 0.215
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Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency. J Autism Dev Disord. 2008 Jul; 38(6):1170-7.
Score: 0.195
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Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology. 2005 Mar 22; 64(6):1088-90.
Score: 0.162
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Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy. Am J Med Genet A. 2004 Feb 01; 124A(4):392-6.
Score: 0.150
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Deletion (9) (p13.1 p21.1). Am J Med Genet. 2000 Mar 13; 91(2):113-5.
Score: 0.114
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Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 2011 Sep 16; 146(6):889-903.
Score: 0.063
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Deletion and duplication of 15q24: molecular mechanisms and potential modification by additional copy number variants. Genet Med. 2010 Sep; 12(9):573-86.
Score: 0.059
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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males. Genet Med. 2006 Dec; 8(12):784-92.
Score: 0.046
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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. Am J Hum Genet. 2017 Jan 05; 100(1):91-104.
Score: 0.023
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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.
Score: 0.016
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Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011 Mar; 19(3):280-6.
Score: 0.015
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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: 0.012