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Plos One|March 14, 2013
Parental imbalances involving chromosomes 15q and 22q may predispose to the formation of de novo pathogenic microdeletions and microduplications in the offspringValeria Capra, Samantha Mascelli, Maria Luisa Garrè, et al.
Orphanet Journal of Rare Diseases|November 27, 2019
Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung diseaseFrancesca Lantieri, Stefania Gimelli, Chiara Viaggi, et al.
BMC Medical Genetics|June 3, 2014
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland SyndromeCarlotta Maria Vaccari, Maria Victoria Romanini, Ilaria Musante, et al.
European Journal of Medical Genetics|September 3, 2008
Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephalyVirginia M Ginocchio, Daniele De Brasi, Rita Genesio, et al.
Human Mutation|March 22, 2007
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocationRenata Bocciardi, Roberto Giorda, Jens Buttgereit, et al.
EMBO Molecular Medicine|December 31, 2013
Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21Youssef Hibaoui, Iwona Grad, Audrey Letourneau, et al.
European Journal of Medical Genetics|June 29, 2011
A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre-Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-ocPatrizia De Marco, Alessandro Raso, Silvana Beri, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|November 7, 2015
A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal DysgenesisPierre Calvel, Kamila Kusz-Zamelczyk, Periklis Makrythanasis, et al.
American Journal of Medical Genetics. Part A|November 24, 2011
Familial Poland anomaly revisitedAnwar Baban, Michele Torre, Sara Costanzo, et al.
American Journal of Medical Genetics. Part A|February 7, 2015
Congenital aural atresia associated with agenesis of internal carotid artery in a girl with a FOXI3 deletionElisa Tassano, Vidhya Jagannathan, Cord Drögemüller, et al.
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