Research

Our Medical Team

Dr. F. Sessions Cole, MD

cole_sessions_pic

Dr. Cole sees newborn patients while they are in the St. Louis Children’s Hospital neonatal intensive care unit. Dr. Cole is consistently recognized in “The Best Doctors in America” list.

http://www.stlouischildrens.org/our-services/physicians/f-sessions-cole-md#

Dr. Cole is our main contact for any 9p minus family, doctor, etc who has a medical question or needs a medical contact.  You may email him anytime as he is very good at getting back to you.  He also has a wonderful administrator who helps him as well.

COLE@KIDS.WUSTL.EDU

 

Dr. Marwan Shinawi, MD

shinawi_marwan_pic

Dr. Shinawi is a clinical genetic specialist. He concentrates his practice on genetic skeletal dysplasia, congenital malformation syndrome, chromosomal disorders, autistic spectrum disorders, bone diseases, metabolic disorders, inherited disorders, and microarray abnormalities.

http://www.stlouischildrens.org/our-services/physicians/marwan-shinawi-md

 

Dr. Dorothy Grange, MD

grange_dk_pic

Dr. Grange is the Director of the St. Louis Children’s Hospital Down Syndrome Center.  She specializes in medical genetics, inherited disorders, phenylketonuria (PKU), birth defects, malformation syndromes, chromosomal disorders, metabolic disorders, Marfan syndrome, connective tissue disorders, overgrowth disorders, craniofacial disorders and pediatric pathology.

http://www.stlouischildrens.org/our-services/physicians/dorothy-katherine-grange-md

 

 

Academic Papers and Data

Research data that was presented at our 2008 Family Reunion

Scientific Data of Network 9pminus members

Open Access (Free) Journal Articles

Sirisena, N.D., Wijetunge, U.K.S., de Silva, R., & Dissanayake, V.H.W. (2013). Case Report: Child with Deletion 9p Syndrome Presenting with Craniofacial Dysmorphism, Developmental Delay, and Multiple Congenital Malformations. Case Reports in Genetics, 2013, Article ID 785830.

Climent Alcalá, F.J., Molina Rodríguez, M.A., González Casado, I., Osona Bris, L., Salamanca Fresno, L., Guerrero-Fernández, J., Martínez-Frías, M.L., & Gracia Bouthelier, R. (2010). Delecio´n 9p-. Disgenesia gonadal asociada a retraso mental e hipoplasia del cuerpo calloso. ¿Sı´ndrome de genes contiguos? Anales De Pediatría, 72(3), 210-214.

Barbaro, M. Balsamo, A., Anderlid, B.M., Myhre, A.G., Gennari, M., Nicoletti, A., Pittalis, M.A., Oscarson, M., & Wedell, A. (2009). 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.

Vinci, G., Chantot-Bastaraud, S., El Houate, B., Lortat-Jacob, S., Brauner, R., & McElreavey, K.(2007). Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder. Molecular Human Reproduction, 13(9), 685-689.

 

There are a couple of papers that are not open access (listed below), but if you are interested in obtaining them, please email us at Membership-Services@9pminus.org.

Pedurupillay, C.R.J., Misceo, D., Gamage, T.H., Dissanayake, V.H.W., & Frengen, E. (2014). Post-zygotic breakage of a dicentric chromosome results in mosaicism for a telocentric 9p marker chromosome in a boy with developmental delay. Elsevier: Gene, 533, 403-410.

Recalcati, M.P., Bellini, M., Norsa, L. Ballarati, L., Caselli, R., Russo, S., Larizza, L., & Giardino, D. (2012). Complex rearrangement involving 9p deletion and duplication in a syndromic patient: Genotype/phenotype correlation and review of the literature. Elsevier: Gene, 502, 40-45.

Eshel, G., Lahat, E., Reish, O. & Barr, J. (January 2002). Neurodevelopmental and Behavioral Abnormalities Associated With Deletion of Chromosome 9p. Journal of Child Neurology, 17(1), 50-51.

css.php