Page 192 - MemoriaER-Eng

RESEARCH GROUPS

PROGRAMME:
Linked Clinical Group
Pediatric and
Developmental Medicine

í
á

Group Members
Lead Researcher

ñóRamos Fuentes, Feliciano J.
Bueno Martínez, Inés é
á
Bueno Lozano, Gloria
Muoz Jalle, Elena é
Contact:
Samper Villagrasa, Pilar
Servicio de Pediatría. M. Ruiz Lzaro, Pedro
Hospital Clínico Universitario “Lozano Blesa”.
Zapata Usabel, Maite A. óó
Facultad de Medicina. Universidad de Zaragoza Carmen Sampriz, Luis í
c/ San Juan Bosco, 15. 50009 Zaragoza · Phone: (+34) 97 661 739
Remn Garijo, Len
E-mail: [email protected] · Website: www.unizar.es
Ayerza Casas, Ariadna
Pi Juste, Juan
Main lines of research
Puisac Uriol, Beatriz
Hernndez Marcos, Mara
• Cornelia de Lange Syndrome and Cohesinopathies (main).
de Teresa Rodrigo, Ma Esperanza
Gil Rodrguez, Ma Concepcin
• Intellectual Disability of Genetic Origin: Fragile X Syndrome.

é
• Innborn Errors of Metabolism: HMG-CoA Lyase Deficiency.

• Short stature and overgrowth syndromes.

• Genetic Hearing Loss.

• Paediatric Dysmorphic Syndromes.
í
• Genetic Neuromuscular Diseases in Childhood.
é
é

ó
Most relevant • Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia
de Lange syndrome-like features, ocular hypertelorism, large fontanelle and é
scientific
X-linked inheritance. kaiser FJ, ansari M, braunholz d, concePción Gil-rodríGuez
articles
M, decroos c, Wilde JJ, Fincher ct, kaur M, bando M, aMor dJ, atWal Ps, bahlo
M, boWMan cM, bradley JJ, brunner hG, clark d, del caMPo M, di donato n, diaku- é

Mis P, dubbs h, dyMent da, eckhold J, ernst s, Ferreira Jc, Francey lJ, Gehlken
u, Guilln-naVarro e, GyFtodiMou y, hall bd, hennekaM r, hudGins l, hullinGs M,

hunter JM, ynteMa h, innes aM, kline ad, kruMina z, lee h, lePPiG k, lynch sa,
M Mb, M l, Mk s, M sG, M i; c4r c c-
allozzianniniceeehtaiculeareareanadaonsor
tiuM, MohaMMed s, Moran e, Mortier Gr, Moser Ja, noon se, nozaki n, nunes l,
P JG, P ls, P-a a, P Mb, P b, r n, r e,
aPPasenneyrezytsetersenuisaceVencuoeder
saitta s, scheuerle ae, schindeler kl, siu VM, stark z, stroM sP, thiese h, Vater i,
W P, W k, W lc; u W c M 13
illeMsilliaMsonilsonniVersityoF ashinGtonenterFor endelian20
GenoMics, hakonarson h, quintero-riVera F, Wierzba J, Musio a, Gillessen-kaesbach T
R
G, raMos FJ, Jackson lG, shirahiGe k, Pi J, christianson dW, krantz id, FitzPatrick PO
dr, deardorFF Ma. Hum Mol Genet. 2014 Jan 31. [Epub ahead of print] PMID: E
L R
24403048 [PubMed - as supplied by publisher].
A
NU
• Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mu- N
tation identified by different next generation sequencing approaches. b- A
aquero /
Montoya c, Gil-rodrGuez Mc, braunholz d, teresa-rodriGo Me, obieGlo c, Gener b, ER
s t, s tM, G-P P, P b, G-k G, M ER
chWarzMayrtroMMezuertasuisacillessenaesbachusioB
a, raMos FJ, kaiser FJ, Pi J. Clin Genet. 2014 Jan 26. doi: 10.1111/cge.12333. CI
[Epub ahead of print] No abstract available. PMID: 24635725 [PubMed - as

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supplied by publisher].