High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of theTYR, OCA2, andSLC45A2genes and a complex rearrangement of theOCA2gene
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Title
High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of theTYR, OCA2, andSLC45A2genes and a complex rearrangement of theOCA2gene
Authors
Keywords
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Journal
Pigment Cell & Melanoma Research
Volume 27, Issue 1, Pages 59-71
Publisher
Wiley
Online
2013-10-12
DOI
10.1111/pcmr.12173
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- (2012) Judith M.A. Verhagen et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- OCA5,a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24
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- Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4
- (2012) Nadége Bondurand et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Microduplications upstream ofMSX2are associated with a phenocopy of cleidocranial dysplasia
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- (2011) Daren Low et al. Pigment Cell & Melanoma Research
- High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients
- (2010) Caroline Rooryck et al. HUMAN GENETICS
- The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans
- (2009) Feng Zhang et al. NATURE GENETICS
- Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
- (2009) Sabina Benko et al. NATURE GENETICS
- Mechanisms of change in gene copy number
- (2009) P. J. Hastings et al. NATURE REVIEWS GENETICS
- A Microhomology-Mediated Break-Induced Replication Model for the Origin of Human Copy Number Variation
- (2009) P. J. Hastings et al. PLoS Genetics
- Velvet: Algorithms for de novo short read assembly using de Bruijn graphs
- (2008) D. R. Zerbino et al. GENOME RESEARCH
- Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects
- (2008) Caroline Rooryck et al. Pigment Cell & Melanoma Research
- Highly Conserved Non-Coding Sequences and the 18q Critical Region for Short Stature: A Common Mechanism of Disease?
- (2008) Flavio Rizzolio et al. PLoS One
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