Page 91 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
tell-marti g, Puig-Butille Ja, PotronY m, Badenas c, milà m, malVehY J, martí mJ, eZquerra m, Fernán- deZ-santiago r, Puig s. The MC1R melanoma risk variant p.R160W is associated with Parkinson disease. Ann Neu- rol. 2015 May;77(5):889-94
Puig s, PotronY m, cuellar F, Puig-Butille Ja, carrera c, aguilera P, nagore e, garcía-casado Z, requena c, Kumar r, landman g, costa soares de sá B, gargan- tini reZZe g, Facure l, de aVila al, achatZ mi, carraro
K, lóPeZ-serra P, lucariello m, lorden P, delgado-mo- rales r, de la caridad oJ, huertas d, gelPí Jl, oroZco m, lóPeZ-doriga a, milà m, PereZ-Jurado la, Pineda m, armstrong J, láZaro c, esteller m. Mutations in JM- JD1C are involved in Rett syndrome and intellectual disa- bility. Genet Med. 2015 Jul 16
riBero s, daVies Jr, requena c, carrera c, glass d, rull r, Vidal-sicart s, Vilalta a, alos l, soriano V, quaglino P, traVes V, neWton-BishoP Ja, nagore e, malVehY J,
dm, duPrat neto JP, graZZiotin tc, Bonamigo rr, reY mc, Balestrini c, morales e, molgo m, BaKos rm, asht- on-Prolla P, giugliani r, larre Borges a, Barquet V, PéreZ J, martíneZ m, caBo h, cohen saBBan e, latorre c, carlos-ortega B, salas-alanis Jc, gonZáleZ r, ola- Zaran Z, malVehY J, Badenas c. Characterization of in- dividuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma. Gen- et Med. 2015 Dec 17.
sáeZ ma, FernándeZ-rodrígueZ J, moutinho c, sáncheZ-mut JV, gomeZ a, Vidal e, PetaZZi P, sZcZesna
Highlights
During 2015 the U726 group has been working on the genetic aspects of rare diseases within the framework of our scientific projects. We obtained funding for a new three-year project entitled “Iden- tification of modifier gene penetrance in rare inher- ited diseases through massive sequencing” (PI15 / 00483). In addition, the group has also been granted funding to start a new research line on the molec- ular factors associated with the development of Giant Congenital Nevus. In collaboration with the CIBERER we organized the “2nd International Con- ference on FMR1 Premutation: Basic Mechanisms and Clinical Involvement, which took place in Sep- tember 2015 in Barcelona. The PI group has been part of a commission appointed by the Generalitat de Catalunya in order to organize genetic testing and genetic counseling in Catalunya. We work in two CSURs of “Spastic Ataxia and Paraparesia” and another in “Movement Disorders” We have actively collaborated with the Catalan Association of Fragile
Puig s, Bataille V. High nevus counts confer a favorable prognosis in melanoma patients. Int J Cancer. 2015 Oct 1;137(7):1691-8
torrico B, FernàndeZ-castillo n, herVás a, milà m, sal- gado m, rueda i, Buitelaar JK, rommelse n, oerlemans am, Bralten J, Freitag cm, reiF a, Battaglia a, maZZone l, maestrini e, cormand B, toma c. Contribution of com- mon and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability. Eur J Hum Genet. 2015 Dec;23(12):1694-70
X Syndrome in various conferences and specifically in 2nd National Fragile X Congress. The group has been active in the creation of the European Society of Xeroderma Pigmentosum which aims to promote progress on issues Syndrome Xeroderma Pigmen- tosum. The group was responsible for presenting the Society at the 73rd Meeting of the American Academy of Dermatology and the 24th Annual Con- gress of the European Academy of Dermatology and Venereology. The PI has edited the book entitled “Al- lelic forms of the FMR1 gene: Fragile X Syndrome, Primary Ovarian Insufficiency and Tremor Ataxia Syndrome among others” ISBN 978-1-63321-914-4 which involved the collaboration of several group members and other Linked Clinical Groups. The results of the research carried by U726 are evident with the 25 manuscripts published in indexed jour- nals.
Institution: Hospital Clínic de Barcelona · Contact: Hospital Clínic de Barcelona. c/ Villarroel, 170 08036 Barcelona · Tel.: 932275400 ext 3406
CIBERER I Annual report 2015 I 91