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1
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84935902591
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Wolf-Hirschhorn Syndrome
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University of Washington, Seattle, Seattle (WA)
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Battaglia A., Carey J.C., South S.T., Wright T.J. Wolf-Hirschhorn Syndrome. GeneReviews [Internet] 2002, University of Washington, Seattle, Seattle (WA).
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Battaglia, A.1
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Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision
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Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice
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Deletion of a 760kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome
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Complexin 1 knockout mice exhibit marked deficits in social behaviours but appear to be cognitively normal
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Drew C.J.G., Kyd R.J., Morton A.J. Complexin 1 knockout mice exhibit marked deficits in social behaviours but appear to be cognitively normal. Hum. Mol. Genet. 2007, 16:2288-2305.
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Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions
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Engbers H., van der Smagt J.J., van't Slot R., Vermeesch J.R., Hochstenbach R., Poot M. Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions. Eur. J. Hum. Genet. 2009, 17:129-132.
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Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome: preliminary report of 12 cases
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Fisch G.S., Battaglia A., Parrini B., Youngblom J., Simensen R. Cognitive-behavioral features of children with Wolf-Hirschhorn syndrome: preliminary report of 12 cases. Am J Med Genet C 2008, 148C:252-256.
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Profound ataxia in complexin I knockout mice masks a complex phenotype that includes exploratory and habituation deficits
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Analysis of relative gene expression data using real-time quantitative PCR and the 2(T)(-delta delta C) method
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Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)
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Maas N.M.C., et al. Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). J. Med. Genet. 2008, 45:71-80.
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Investigation of adaptive and maladaptive behaviour in people with Wolf Hirschhorn syndrome
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First known microdeletion within the Wolf-Hirschhorn-syndrome critical region refines genotype-phenotype correlation
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Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: Implications for critical region designation
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Characterization of double ring chromosome 4 mosaicism associated with bilateral hip dislocation, cortical dysgenesis, and epilepsy
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Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently defined Wolf-Hirschhorn syndrome critical region
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