Page 196 - MemoriaER-Eng
P. 196




RESEARCH GROUPS



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PROGRAMME:
Linked Clinical Group
Pediatric and 

Developmental Medicine




Group Members
Lead Researcher

Gener Querol, Blanca Tejada Mínguez, Ma Isabel
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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 
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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
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• 
Dysmorphology 

• Hereditary Cancer 

• Neurological diseases 

• Advanced therapies á

• Etc.
13
20
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• 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 
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