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31
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Cloning and characterization of human FTCD on 21q22.3, a candidate gene for glutamate formiminotransferase deficiency
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Solans, A.;
Estivill, X.;
de la Luna, S.;
Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, Barcelona (Spain);
Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, Barcelona (Spain);
Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, Barcelona (Spain);
(Cytogenetics and cell genetics,
v.88,
2000,
pp.43-49)
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32
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Optimization of a simple and rapid single-strand conformation analysis for detection of mutations in the PROS1 gene: Identification of seven novel mutations and three novel, apparently neutral, variants
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Espinosa-Parrilla, Yolanda;
Morell, Marta;
Borrell, Montserrat;
Souto, Joan Carles;
Fontcuberta, Jordi;
Estivill, Xavier;
Sala, Nú
ria;
Centre de Genè
tica Mè
dica i Molecular, Institut de Recerca Oncolò
gica (IRO), Barcelona, Spain;
Centre de Genè
tica Mè
dica i Molecular, Institut de Recerca Oncolò
gica (IRO), Barcelona, Spain;
Unitat d'Hemostasia i Trombosi, Hospital de Sant Pau, Barcelona, Spain;
Unitat d'Hemostasia i Trombosi, Hospital de Sant Pau, Barcelona, Spain;
Unitat d'Hemostasia i Trombosi, Hospital de Sant Pau, Barcelona, Spain;
Centre de Genè
tica Mè
dica i Molecular, Institut de Recerca Oncolò
gica (IRO), Barcelona, Spain;
Centre de Genè
tica Mè
dica i Molecular, Institut de Recerca Oncolò
gica (IRO), Barcelona, Spain;
(Human mutation,
v.15,
2000,
pp.463-473)
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33
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Protein S gene analysis reveals the presence of a cosegregating mutation in most pedigrees with type I but not type III PS deficiency
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Espinosa-Parrilla, Yolanda;
Morell, Marta;
Souto, Joan Carles;
Tirado, Isabel;
Fontcuberta, Jordi;
Estivill, Xavier;
Sala, Nú
ria;
Departament de Genè
tica Mè
dica i Molecular, Institut de Recerca Oncolò
gica (IRO), Barcelona, Spain;
Departament de Genè
tica Mè
dica i Molecular, Institut de Recerca Oncolò
gica (IRO), Barcelona, Spain;
Unitat d'Hemostasia i Trombosi, Hospital de Sant Pau, Barcelona, Spain;
Unitat d'Hemostasia i Trombosi, Hospital de Sant Pau, Barcelona, Spain;
Unitat d'Hemostasia i Trombosi, Hospital de Sant Pau, Barcelona, Spain;
Departament de Genè
tica Mè
dica i Molecular, Institut de Recerca Oncolò
gica (IRO), Barcelona, Spain;
Departament de Genè
tica Mè
dica i Molecular, Institut de Recerca Oncolò
gica (IRO), Barcelona, Spain;
(Human mutation,
v.14,
1999,
pp.30-39)
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34
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Retrovirus-mediated transfer of the herpes simplex virus thymidine kinase and connexin26 genes in pancreatic cells results in variable efficiency on the bystander killing: Implications for gene therapy
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Carrió
, Meritxell;
Mazo, Adela;
Ló
pez-Iglesias, Carmen;
Estivill, Xavier;
Fillat, Cristina;
Centre de Genè
tica Mè
dica i Molecular, Institut de Recerca Oncolò
gica (IRO), Barcelona, Spain;
Departament de Bioquí
mica i Biologia Molecular, Universitat de Barcelona, Barcelona, Spain;
Serveis Cientificotè
cnics (Parc Cientfific), Universitat de Barcelona, Barcelona, Spain;
Centre de Genè
tica Mè
dica i Molecular, Institut de Recerca Oncolò
gica (IRO), Barcelona, Spain;
Centre de Genè
tica Mè
dica i Molecular, Institut de Recerca Oncolò
gica (IRO), Barcelona, Spain;
(International journal of cancer: Journal international du cancer,
v.94,
2001,
pp.81-88)
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35
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Differential expression of MHC class II molecules in highly metastatic breast cancer cells is mediated by the regulation of the CIITA transcription : Implication of CIITA in tumor and metastasis development
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Shi, Bo;
Vinyals, Antò
nia;
Alia, Pedro;
Broceñ
o, Cristina;
Chen, Feisong;
Adrover, Marc;
Gelpi, Carme;
Price, Janet E.;
Fabra, À
ngels;
Institut de Recerca Oncologica (IDIBELL-IRO), Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, Hospitalet de Llobregat, Barcelona 08907, Spain;
Institut de Recerca Oncologica (IDIBELL-IRO), Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, Hospitalet de Llobregat, Barcelona 08907, Spain;
Institut de Recerca Oncologica (IDIBELL-IRO), Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, Hospitalet de Llobregat, Barcelona 08907, Spain;
Institut de Recerca Oncologica (IDIBELL-IRO), Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, Hospitalet de Llobregat, Barcelona 08907, Spain;
Institut de Recerca Oncologica (IDIBELL-IRO), Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, Hospitalet de Llobregat, Barcelona 08907, Spain;
Institut de Recerca Oncologica (IDIBELL-IRO), Hospital Duran i Reynals, Autovia de Castelldefels Km 2,7, Hospitalet de Llobregat, Barcelona 08907, Spain;
Servei d’Inmunologí
a, Hospital de la Santa Creu i Sant Pau, B;
(The international journal of biochemistry & cell biology,
v.38,
2006,
pp.544-562)
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36
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Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene
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Ló
pez-Bigas, Nú
ria;
Rabionet, Raquel;
Martí
nez, Elisabeth;
Banchs, Isabel;
Volpini, Ví
ctor;
Vance, Jeffery M.;
Arboné
s, Maria Lourdes;
Estivill, Xavier;
;
(Human mutation,
v.15,
2000,
pp.481-482)
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37
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Presence of a Major <I>WFS1</I> Mutation in Spanish Wolfram Syndrome Pedigrees
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Gó
mez-Zaera, Montse;
Strom, Tim M.;
Rodrı
́
guez, Benjamı
́
n;
Estivill, Xavier;
Meitinger, Thomas;
Nunes, Virginia;
;
(Molecular genetics and metabolism,
v.72,
2001,
pp.72-81)
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38
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PP-1-16 Apoptosis-loss and expression of death-related genes in breast carcinomas
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Sierra, A.;
Castellsague, X.;
Coll, A.;
Mañ
as, S.;
Escobedo, A.;
Fabra, A.;
;
(European journal of cancer,
v.32,
1996,
pp.12-13)
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39
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A Polymorphic Genomic Duplication on Human Chromosome 15 Is a Susceptibility Factor for Panic and Phobic Disorders
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Gratacò
s, Mò
nica;
Nadal, Marga;
Martı́
n-Santos, Rocı́
o;
Pujana, Miguel Angel;
Gago, Jordi;
Peral, Belé
n;
Armengol, Lluı́
s;
Ponsa, Immaculada;
Miró
, Rosa;
Bulbena, Antoni;
Estivill, Xavier;
Centre de Genè
tica Mè
dica i Molecular—
IRO, L'Hospitalet de Llobregat, E-08907, Barcelona, Catalonia, Spain;
Centre de Genè
tica Mè
dica i Molecular—
IRO, L'Hospitalet de Llobregat, E-08907, Barcelona, Catalonia, Spain;
Departament de Psiquiatria, Hospital del Mar, IMAS, Barcelona, Catalonia, Spain;
Centre de Genè
tica Mè
dica i Molecular—
IRO, L'Hospitalet de Llobregat, E-08907, Barcelona, Catalonia, Spain;
Unitat de Recerca en Psiquiatria, IMIM, E-08083, Barcelona, Catalonia, Spain;
Centre de Genè
tica Mè
dica i Molecular—
IRO, L'Hospitalet de Llobregat, E-08907, Barcelona, Catalonia, Spain;
Centre de Genè
tica Mè
dica i Molecular—
IRO, L'Hospitalet de Llobregat, E-08907, Barcelona, Catalonia, Spain;
Departament de Biologia Cellular, Fisiologia i Immunologia, Universitat Autò
noma de Barcelona, E-08193, Bellaterra, Catalonia, Spain;
Departament de Biologia Cellular, Fisiologia i;
(Cell,
v.106,
2001,
pp.367-379)
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40
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Alu-splice cloning of human Intersectin (ITSN), a putative multivalent binding protein expressed in proliferating and differentiating neurons and overexpressed in Down syndrome
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Pucharcó
s, Carles;
Fuentes, Juan-José
;
Casas, Caty;
de la Luna, Susana;
Alcá
ntara, Soledad;
Arboné
s, Maria L;
Soriano, Eduardo;
Estivill, Xavier;
Pritchard, Melanie;
Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona;
Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona;
Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona;
Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona;
Department of Animal and Plant Cell Biology, Faculty of Biology, University of Barcelona, Barcelona, Spain;
Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Duran i Reynals, L'Hospitalet de Llobregat, Barcelona;
Department of Animal and Plant Cell Biology, Faculty of Biology, University of Barcelona, Barcelona, Spain;
Down Syndrome Research Group, Medical and Molecular Genetics Center, IRO, Hospital Dura;
(European journal of human genetics : EJHG,
v.7,
1999,
pp.704-712)