Page 196 - MemoriaER-Eng

RESEARCH GROUPS

ó

í

íí

íí

á

óéú

PROGRAMME:
Linked Clinical Group
Pediatric and

Developmental Medicine

Group Members
Lead Researcher

Gener Querol, Blanca Tejada Mínguez, Ma Isabel
í

Garca Ribes, Ainhoa

Contact:
Lpez Arztegui, Ma Asuncin
éGarca Naveda, Laura
Servicio de Gentica del Hospital Universitario ó
Cruces y BioCruces Health Research Institute. Llano Rivas, Isabel
Martnez Bouzas, Cristina
Pza. de Cruces s/n. 48903 Barakaldo, Bizkaia
Phone: (+34) 94 600 65 14 y 94 600 65 32 Maortua Olabe, Hiart
de la Hoz Rastrollo, Ana Beln í
E.mail: [email protected]
Website: www.hospitalcruces.com
Martnez Gonzlez, Ma Jess
ñ
Olabarrieta Hoyos, Naiara

Main lines of research

• Intellectual disability, particularly X-linked, fragile X syndrome and pa-
thologies associated with the spectrum of Rett syndrome
à

•
Dysmorphology

• Hereditary Cancer

• Neurological diseases

• Advanced therapies á

• Etc.
13
20
T
R
• Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 PO
Most relevant áE
centromere: a possible recurrent chromosome aberration. PlaJa a, lloVeras L R
scientific A
e, Martnez-bouzas c, barrea b, del caMPo M, Fernndez a, herrero M, barran- NU
articles
co l, Palau n, lPez-arzteGui Ma, catal V, teJada Mi. Am J Med Genet A. 2013 N
A
Sep;161(9):2363-8. doi: 10.1002/ajmg.a.36102. Epub 2013 Jul 25.
/
ER
• [Clinical guideline of gene FMR1-associated diseases: fragile X syndrome, pri- ER
mary ovarian insufficiency and tremor-ataxia syndrome]. M M, r F, t- B
ilaMoseCI
Jada Mi; GrouP aeGh/ciberer. Med Clin (Barc). 2014 Mar 4;142(5):219-25.
doi: 10.1016/j.medcli.2013.05.025. Epub 2013 Jul 25. Spanish. No abstract
196
available.