共 52 条
[1]
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
[J].
Baala, Lekbir
;
Audollent, Sophie
;
Martinovic, Jelena
;
Ozilou, Catherine
;
Babron, Marie-Claude
;
Sivanandamoorthy, Sivanthiny
;
Saunier, Sophie
;
Salomon, Remi
;
Gonzales, Marie
;
Rattenberry, Eleanor
;
Esculpavit, Chantal
;
Toutain, Annick
;
Moraine, Claude
;
Parent, Philippe
;
Marcorelles, Pascale
;
Dauge, Marie-Christine
;
Roume, Joelle
;
Le Merrer, Martine
;
Meiner, Vardiella
;
Meir, Karen
;
Menez, Francoise
;
Beaufrere, Anne-Marie
;
Francannet, Christine
;
Tantau, Julia
;
Sinico, Martine
;
Dumez, Yves
;
MacDonald, Fiona
;
Munnich, Arnold
;
Lyonnet, Stanislas
;
Gubler, Marie-Claire
;
Genin, Emmanuelle
;
Johnson, Colin A.
;
Vekemans, Michel
;
Encha-Razavi, Ferechte
;
Attie-Bitach, Tania
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2007, 81 (01)
:170-179

Baala, Lekbir
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Audollent, Sophie
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Martinovic, Jelena
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Ozilou, Catherine
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Babron, Marie-Claude
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Sivanandamoorthy, Sivanthiny
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Saunier, Sophie
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Salomon, Remi
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Gonzales, Marie
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Rattenberry, Eleanor
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Esculpavit, Chantal
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Toutain, Annick
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Moraine, Claude
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Parent, Philippe
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Marcorelles, Pascale
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Dauge, Marie-Christine
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Roume, Joelle
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Le Merrer, Martine
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Meiner, Vardiella
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Meir, Karen
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Menez, Francoise
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Beaufrere, Anne-Marie
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Francannet, Christine
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Tantau, Julia
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Sinico, Martine
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Dumez, Yves
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

MacDonald, Fiona
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Munnich, Arnold
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Lyonnet, Stanislas
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Gubler, Marie-Claire
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Genin, Emmanuelle
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Johnson, Colin A.
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Vekemans, Michel
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Encha-Razavi, Ferechte
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France

Attie-Bitach, Tania
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, F-75743 Paris 15, France
[2]
Novel approaches with targeted therapies in bladder cancer - Therapy of bladder cancer by blockade of the epidermal growth factor receptor family
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Bellmunt, J
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CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY,
2003, 46
:S85-S104

Bellmunt, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Vall Hebron, Gen Hosp, Med Oncol Serv, Barcelona 08035, Spain

Hussain, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Vall Hebron, Gen Hosp, Med Oncol Serv, Barcelona 08035, Spain

Dinney, CP
论文数: 0 引用数: 0
h-index: 0
机构: Univ Vall Hebron, Gen Hosp, Med Oncol Serv, Barcelona 08035, Spain
[3]
Mechanisms of alternative pre-messenger RNA splicing
[J].
Black, DL
.
ANNUAL REVIEW OF BIOCHEMISTRY,
2003, 72
:291-336

Black, DL
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif Los Angeles, Howard Hughes Med Inst, Dept Microbiol Immunol & Mol Genet, Los Angeles, CA 90095 USA Univ Calif Los Angeles, Howard Hughes Med Inst, Dept Microbiol Immunol & Mol Genet, Los Angeles, CA 90095 USA
[4]
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
[J].
Brancati, Francesco
;
Barrano, Giuseppe
;
Silhavy, Jennifer L.
;
Marsh, Sarah E.
;
Travaglini, Lorena
;
Bielas, Stephanie L.
;
Amorini, Maria
;
Zablocka, Dominika
;
Kayserili, Hulya
;
Al-Gazali, Lihadh
;
Bertini, Enrico
;
Boltshauser, Eugen
;
D'Hooghe, Marc
;
Fazzi, Elisa
;
Fenerci, Elif Y.
;
Hennekam, Raoul C. M.
;
Kiss, Andrea
;
Lees, Melissa M.
;
Marco, Elysa
;
Phadke, Shubha R.
;
Rigoli, Luciana
;
Romano, Stephane
;
Salpietro, Carmelo D.
;
Sherr, Elliott H.
;
Signorini, Sabrina
;
Stromme, Petter
;
Stuart, Bernard
;
Sztriha, Laszlo
;
Viskochil, David H.
;
Yuksel, Adnan
;
Dallapiccola, Bruno
;
Valente, Enza Maria
;
Gleeson, Joseph G.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2007, 81 (01)
:104-113

Brancati, Francesco
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Barrano, Giuseppe
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Silhavy, Jennifer L.
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Marsh, Sarah E.
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Travaglini, Lorena
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Bielas, Stephanie L.
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Amorini, Maria
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Zablocka, Dominika
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Kayserili, Hulya
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Al-Gazali, Lihadh
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Bertini, Enrico
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Boltshauser, Eugen
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

D'Hooghe, Marc
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Fazzi, Elisa
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Fenerci, Elif Y.
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Hennekam, Raoul C. M.
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Kiss, Andrea
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Lees, Melissa M.
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Marco, Elysa
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Phadke, Shubha R.
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Rigoli, Luciana
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Romano, Stephane
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Salpietro, Carmelo D.
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Sherr, Elliott H.
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Signorini, Sabrina
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Stromme, Petter
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Stuart, Bernard
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Sztriha, Laszlo
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Viskochil, David H.
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Yuksel, Adnan
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Dallapiccola, Bruno
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Valente, Enza Maria
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy

Gleeson, Joseph G.
论文数: 0 引用数: 0
h-index: 0
机构: IRCCS, CSS, Mendel Inst, I-00198 Rome, Italy
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Mutations in the CEP290 (NPHP6) gene are a frequent cause of leber congenital amaurosis
[J].
den Hollander, Anneke I.
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Koenekoop, Robert K.
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Yzer, Suzanne
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Lopez, Irma
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Arends, Maarten L.
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Voesenek, Krysta E. J.
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AMERICAN JOURNAL OF HUMAN GENETICS,
2006, 79 (03)
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den Hollander, Anneke I.
论文数: 0 引用数: 0
h-index: 0
机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Koenekoop, Robert K.
论文数: 0 引用数: 0
h-index: 0
机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Yzer, Suzanne
论文数: 0 引用数: 0
h-index: 0
机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Lopez, Irma
论文数: 0 引用数: 0
h-index: 0
机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Arends, Maarten L.
论文数: 0 引用数: 0
h-index: 0
机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Voesenek, Krysta E. J.
论文数: 0 引用数: 0
h-index: 0
机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Zonneveld, Marijke N.
论文数: 0 引用数: 0
h-index: 0
机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Strom, Tim M.
论文数: 0 引用数: 0
h-index: 0
机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Meitinger, Thomas
论文数: 0 引用数: 0
h-index: 0
机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Brunner, Han G.
论文数: 0 引用数: 0
h-index: 0
机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Hoyng, Carel B.
论文数: 0 引用数: 0
h-index: 0
机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

van den Born, L. Ingeborgh
论文数: 0 引用数: 0
h-index: 0
机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Rohrschneider, Klaus
论文数: 0 引用数: 0
h-index: 0
机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

Cremers, Frans P. M.
论文数: 0 引用数: 0
h-index: 0
机构: Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
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Delineation of prognostic biomarkers in prostate cancer
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Dhanasekaran, SM
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机构: Univ Michigan, Sch Med, Dept Pathol, Ann Arbor, MI 48109 USA

Barrette, TR
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Sch Med, Dept Pathol, Ann Arbor, MI 48109 USA

Ghosh, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Sch Med, Dept Pathol, Ann Arbor, MI 48109 USA

Shah, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Sch Med, Dept Pathol, Ann Arbor, MI 48109 USA

Varambally, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Sch Med, Dept Pathol, Ann Arbor, MI 48109 USA

Kurachi, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Sch Med, Dept Pathol, Ann Arbor, MI 48109 USA

Pienta, KJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Sch Med, Dept Pathol, Ann Arbor, MI 48109 USA

Rubin, MA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Sch Med, Dept Pathol, Ann Arbor, MI 48109 USA

Chinnaiyan, AM
论文数: 0 引用数: 0
h-index: 0
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Univ Michigan, Sch Med, Dept Pathol, Ann Arbor, MI 48109 USA Univ Michigan, Sch Med, Dept Pathol, Ann Arbor, MI 48109 USA
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Early identification of individuals with prostate cancer in negative biopsies
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Dhir, R
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2004, 171 (04)
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Dhir, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pittsburgh, Shadyside Med Ctr, Dept Urol, Pittsburgh, PA 15232 USA

Vietmeier, B
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pittsburgh, Shadyside Med Ctr, Dept Urol, Pittsburgh, PA 15232 USA

Arlotti, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pittsburgh, Shadyside Med Ctr, Dept Urol, Pittsburgh, PA 15232 USA

Acquafondata, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pittsburgh, Shadyside Med Ctr, Dept Urol, Pittsburgh, PA 15232 USA

论文数: 引用数:
h-index:
机构:

Masterson, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pittsburgh, Shadyside Med Ctr, Dept Urol, Pittsburgh, PA 15232 USA

Getzenberg, RH
论文数: 0 引用数: 0
h-index: 0
机构: Univ Pittsburgh, Shadyside Med Ctr, Dept Urol, Pittsburgh, PA 15232 USA