Resources & Links
Resources & Links
Studies and Papers
From Karyotypes to Precision Genomics in 9p Deletion and Duplication Syndromes
Eleanor I. Sams, Jeffrey K. Ng, Victoria Tate, Ying-Chen Claire Hou, Yang Cao, Lucinda Antonacci-Fulton, Khadija Belhassan, Julie Neidich, Robi D. Mitra, F. Sessions Cole, Patricia Dickson, Jeffrey Milbrandt, Tychele N. Turner (2022)
Scientific Data of Network 9p Minus members
Research data that was presented at our 2008 Triennial Reunion
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Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders.
European Journal of Medical Genetics
Volume 62, Issue 1, January 2019, Pages 15-20
Lineagen, Inc., Salt Lake City, UT, United StatesUniversity of Utah, Department of Pediatrics, United States(2018)
Case Report: Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations.
Case Report in Genetics, 2013, Article ID 785830
Sirisena, N.D., Wijetunge, U.K.S., de Silva, R., & Dissanayake, V.W.H. (2013)
Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA.
European Journal of Human Genetics, 2009(17), 1439-1447
Barbaro, M. Balsamo, A., Anderlid, B.M., Myhre, A.G., Gennari, M., Nicoletti, A., Pittalis, M.A., Oscarson, M., & Wedell, A. (2009)
Association of deletion 9p,46,XY gonadal dysgenesis and autistic spectrum disorder.
Molecular Human Reproduction, 13(9), 685-689
Vinci, G., Chantot-Bastaraud, S., El Houate, B., Lortat-Jacob, S., Brauner, R., & McElreavey, K.(2007)
Chromosome Breakage Hotspots and Delineation of the Critical Region for the 9p-Deletion Syndrome
Laurie A. Christ, Carol A. Crowe, Mark A. Micale, Jeffrey M. Conroy, Stuart Schwartz (1999)
Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review
Flaminia Pugnaloni, Roberta Onesimo, Rita Blandino, Carolina Putotto, Paolo Versacci, Angelica Bibiana Delogu, Chiara Leoni, Valentina Trevisan, Ileana Croci, Federica Calì,Maria Cristina Digilio, Giuseppe Zampino, Bruno Marino, Giulio Calcagni (2023)
Case Report: Idiopathic Central Precocious Puberty Associated with 11 Mb De Novo Distal Deletion of the Chromosome 9 Short Arm