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Pablo Lapunzina
Pablo Lapunzina
Altri nomiPablo Lapunzina Badia, Pablo Lupunzina, Pablo Lapunzina Abadia
Professor of Human Genetics; Hospital Universitario La Paz and CIBERER Researcher; INGEMM
Email verificata su salud.madrid.org
Titolo
Citata da
Citata da
Anno
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
463*2018
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
3542005
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
3372010
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
3062009
Risk of tumorigenesis in overgrowth syndromes: a comprehensive review
P Lapunzina
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2005
3002005
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
2952013
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
2732014
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
2432012
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
2402012
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
2372003
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
2282009
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
2112006
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
1702014
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46, XY disorder of sex development
L Audí, M Fernández-Cancio, A Carrascosa, P Andaluz, N Torán, C Piró, ...
The Journal of Clinical Endocrinology & Metabolism 95 (4), 1876-1888, 2010
1522010
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
1522005
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
1402004
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant …
T Kobayashi, Y Aoki, T Niihori, H Cavé, A Verloes, N Okamoto, H Kawame, ...
Human mutation 31 (3), 284-294, 2010
1312010
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
1292012
Epigenetic biomarkers: current strategies and future challenges for their use in the clinical laboratory
JL García-Giménez, M Seco-Cervera, TO Tollefsbol, C Romá-Mateo, ...
Critical reviews in clinical laboratory sciences 54 (7-8), 529-550, 2017
1212017
New microdeletion and microduplication syndromes: A comprehensive review
J Nevado, R Mergener, M Palomares-Bralo, KR Souza, E Vallespín, ...
Genetics and molecular biology 37, 210-219, 2014
1212014
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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