Pablo Lapunzina
Pablo Lapunzina
Profesor de Genética Clínica: Investigador CIBERER; INGEMM; Director Científico
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Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis
N Huang, AV Pandey, V Agrawal, W Reardon, PD Lapunzina, D Mowat, ...
The American Journal of Human Genetics 76 (5), 729-749, 2005
Extending the phenotype of recurrent rearrangements of 16p11. 2: deletions in mentally retarded patients without autism and in normal individuals
EK Bijlsma, ACJ Gijsbers, JHM Schuurs-Hoeijmakers, A Van Haeringen, ...
European journal of medical genetics 52 (2-3), 77-87, 2009
Risk of tumorigenesis in overgrowth syndromes: a comprehensive review
P Lapunzina
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2005
Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta
P Lapunzina, M Aglan, S Temtamy, JA Caparrós-Martín, M Valencia, ...
The American Journal of Human Genetics 87 (1), 110-114, 2010
Mutations in WNT1 cause different forms of bone fragility
K Keupp, F Beleggia, H Kayserili, AM Barnes, M Steiner, O Semler, ...
The American Journal of Human Genetics 92 (4), 565-574, 2013
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome
VL Ruiz-Perez, WJS Tompson, JH Blair, C Espinoza-Valdez, P Lapunzina, ...
The American Journal of Human Genetics 72 (3), 728-732, 2003
HRAS mutation analysis in Costello syndrome: Genotype and phenotype correlation
KW Gripp, AE Lin, DL Stabley, L Nicholson, CI Scott Jr, D Doyle, Y Aoki, ...
American Journal of Medical Genetics Part A 140 (1), 1-7, 2006
Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
V Martínez‐Glez, M Valencia, JA Caparrós‐Martín, M Aglan, S Temtamy, ...
Human mutation 33 (2), 343-350, 2012
NOTCH2 mutations in Alagille syndrome
BM Kamath, RC Bauer, KM Loomes, G Chao, J Gerfen, A Hutchinson, ...
Journal of medical genetics 49 (2), 138-144, 2012
Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma
M Berdasco, S Ropero, F Setien, MF Fraga, P Lapunzina, R Losson, ...
Proceedings of the National Academy of Sciences 106 (51), 21830-21835, 2009
Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment
C Tayama, V Romanelli, A Martin-Trujillo, I Iglesias-Platas, K Okamura, ...
Genome research 24 (4), 554-569, 2014
Expert consensus document: clinical and molecular diagnosis, screening and management of Beckwith–Wiedemann syndrome: an international consensus statement
F Brioude, JM Kalish, A Mussa, AC Foster, J Bliek, GB Ferrero, ...
Nature Reviews Endocrinology 14 (4), 229, 2018
Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome
D Beysen, J Raes, BP Leroy, A Lucassen, JRW Yates, J Clayton-Smith, ...
The American Journal of Human Genetics 77 (2), 205-218, 2005
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
M Yuen, SA Sandaradura, JJ Dowling, AS Kostyukova, N Moroz, ...
The Journal of clinical investigation 124 (11), 4693-4708, 2014
Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1
L Alvarez, P Jara, E Sánchez-Sabate, L Hierro, J Larrauri, MC Díaz, ...
Human molecular genetics 13 (20), 2451-2460, 2004
Molecular and clinical characterization of cardio‐facio‐cutaneous (CFC) syndrome: Overlapping clinical manifestations with Costello syndrome
Y Narumi, Y Aoki, T Niihori, G Neri, H Cavé, A Verloes, C Nava, ...
American Journal of Medical Genetics Part A 143 (8), 799-807, 2007
Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis
L Armengol, J Nevado, C Serra-Juhé, A Plaja, C Mediano, ...
Human genetics 131 (3), 513-523, 2012
Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11. 2 deletion syndrome
L Fernandez, P Lapunzina, D Arjona, I López Pajares, L García‐Guereta, ...
Clinical genetics 68 (4), 373-378, 2005
Stratification of Wilms tumor by genetic and epigenetic analysis
RH Scott, A Murray, L Baskcomb, C Turnbull, C Loveday, R Al-Saadi, ...
Oncotarget 3 (3), 327, 2012
Cancer genes hypermethylated in human embryonic stem cells
V Calvanese, A Horrillo, A Hmadcha, B Suarez-Álvarez, AF Fernandez, ...
PloS one 3 (9), e3294, 2008
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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