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• MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy
controls (519 females and 342 males). M h, M-b c, G-r a,
aortuaartínezouzasarcíaibes
Martínez MJ, Guillen e, doMinGo Mr, calVo Mt, Guitart M, Gabau e, botella MP, Gener b, ru-
i, l-a Ma, t Mi. J Mol Diagn. 2013 Sep;15(5):723-9. doi: 10.1016/j.
bio óPezrízteGuieJada
jmoldx.2013.05.002. Epub 2013 Jun 26.

• Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated

with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a
case-control study. rice Gi, Forte GM, szynkieWicz M, chase ds, aeby a, abdel-haMid Ms,

ackroyd s, allcock r, bailey kM, balottin u, barnerias c, bernard G, bodeMer c, botella MP,
cereda c, chandler ke, dabydeen l, dale rc, de laet c, de Goede cG, del toro M, eFFat l,

enaMorado nn, Fazzi e, Gener b, et al. Lancet Neurol. 2013 Dec;12(12):1159-69. doi:
10.1016/S1474-4422(13)70258-8. Epub 2013 Oct 30.

• A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes

identifies a broad molecular and clinical spectrum converging on altered chromatin
remodeling. W d, b n, b F, s-h s, P e, l y,
ieczoreköGershauseneleGGiateineraldenstättohli
Milz e, Martín M, thiele h, altMüller J, alanay y, kayserili h, klein-hitPass l, böhrinGer s,
W a, a b, b k, c a, c k, c o, c F,
ollsteinlbrechtoduroGlualiebehrzanoWskaoGuluristoFoli
czeschik Jc, deVriendt k, dotti Mt, elcioGlu n, Gener b, et al. Hum Mol Genet. 2013 Dec

20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1.

RESEARCH PROJECTS:
Highlights
The two most important were:
•
Genetic study of primary ovarian insufficiency in follicular cells in young women
carriers of premutation of the fragile X syndrome: correlation with clinical
parameters. PI: Tejada MI. FIS-Reference: PI10/00550.

• Genetic approach to Rett syndrome and its variants: clinical and molecular

characterization of phenotypes that overlap. PI: Tejada MI. Basque Government-
Reference: 2011111090.

RESULTS:

The most important results were published (see previous section) or in press, having

been presented in the following national and international meetings:
• Exome sequencing application to decipher the gene responsible for the MRX82

family: a unique UPF3B gene mutation produces a variety of phenotypes. Tejada
MI, et al. XXVII National Congress of the Spanish Association of Human Genetics.

Madrid 10-12 April 2013.

• Study of triple CGG repeats (FMR1 gene) in 157 patients with ovarian failure of
unknown origin. Tejada MI, et al. European Human Genetics Conference 2013. Paris

8-11 June 2013.
•
Study of triple CGG repeats and AGG interruptions in 41 low-responder women with
a reduced ovarian response in ISCI program: A preliminary study on the comparison

between blood and granulosa cells. Tejada MI, et al. The 1st International Conference 13
on the FMR1 premutation: basic mechanisms and clinical involvement. Perugia 20
(Italy) 23-26 June 2013.
T
OR
• Study of triple CGG repeats (FMR1 gene) in 41 patients with a reduced ovarian P
RE
response to gonadotropin stimulation: no correlation found with four ovarian L
parameters. Tejada MI, et al. European Society of Human Reproduction and A
NU
Embryology (ESHRE) 7-10 July 2013. London
N
A
CLINICAL GUIDELINES: R /
The aforementioned in the publications’ section. E
ER
CLINICAL TRIALS:
B
CI
Authorization by the AEM (Spanish Agency of medicines) in August 2013 of the trial:

Cell therapy, mesenchymal stem cells-based, applied to pediatric patients with Osteoge- 197
nesis Imperfecta (TERCELOI). Reference: EC10-219. Clinical Coordinator: Blanca Gener.