Yolanda Gyftodimou

Yolanda Gyftodimou

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Yolanda Gyftodimou

Yolanda Gyftodimou

Publications by authors named "Yolanda Gyftodimou"

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De novo 393 kb microdeletion of 7p11.2 characterized by aCGH in a boy with psychomotor retardation and dysmorphic features.

Meta Gene 2014 Dec 15;2:274-82. Epub 2014 Apr 15.

Eurogenetica S.A., Laboratory of Genetics, Athens-Thessaloniki, Greece ; Cattedra di Genetica Medica, Ospedale Binaghi, Cagliari, Italy.

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http://dx.doi.org/10.1016/j.mgene.2014.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287824PMC
December 2014

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

Hum Mol Genet 2014 Jun 8;23(11):2888-900. Epub 2014 Jan 8.

Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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http://dx.doi.org/10.1093/hmg/ddu002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014191PMC
June 2014

Congenital hypothyroidism as the initial presentation that led to the diagnosis of Williams syndrome.

Gene 2012 Feb 14;494(1):102-4. Epub 2011 Dec 14.

1st Paediatric Department, Aristotle University of Thessaloniki, Greece.

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http://dx.doi.org/10.1016/j.gene.2011.12.007DOI Listing
February 2012

Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss.

Int J Pediatr Otorhinolaryngol 2011 Jan 5;75(1):89-94. Epub 2010 Nov 5.

Department of Genetics, Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.

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http://dx.doi.org/10.1016/j.ijporl.2010.10.016DOI Listing
January 2011