共 27 条
[1]
Decoding cilia function: Defining specialized genes required for compartmentalized cilia biogenesis
[J].
Avidor-Reiss, T
;
Maer, AM
;
Koundakjian, E
;
Polyanovsky, A
;
Keil, T
;
Subramaniam, S
;
Zuker, CS
.
CELL,
2004, 117 (04)
:527-539

Avidor-Reiss, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Diego, Howard Hughes Med Inst, La Jolla, CA 92093 USA

Maer, AM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Diego, Howard Hughes Med Inst, La Jolla, CA 92093 USA

Koundakjian, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Diego, Howard Hughes Med Inst, La Jolla, CA 92093 USA

Polyanovsky, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Diego, Howard Hughes Med Inst, La Jolla, CA 92093 USA

Keil, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Diego, Howard Hughes Med Inst, La Jolla, CA 92093 USA

Subramaniam, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calif San Diego, Howard Hughes Med Inst, La Jolla, CA 92093 USA

Zuker, CS
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Howard Hughes Med Inst, La Jolla, CA 92093 USA Univ Calif San Diego, Howard Hughes Med Inst, La Jolla, CA 92093 USA
[2]
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
[3]
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome
[J].
Baala, Lekbir
;
Romano, Stephane
;
Khaddour, Rana
;
Saunier, Sophie
;
Smith, Ursula M.
;
Audollent, Sophie
;
Ozilou, Catherine
;
Faivre, Laurence
;
Laurent, Nicole
;
Foliguet, Bernard
;
Munnich, Arnold
;
Lyonnet, Stanislas
;
Salomon, Remi
;
Encha-Razavi, Ferechte
;
Gubler, Marie-Claire
;
Boddaert, Nathalie
;
de Lonlay, Pascale
;
Johnson, Colin A.
;
Vekemans, Michel
;
Antignac, Corinne
;
Attie-Bitach, Tania
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2007, 80 (01)
:186-194

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

Romano, Stephane
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, Assistance Publ Hop Paris, F-75743 Paris 15, France

Khaddour, Rana
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, Assistance Publ Hop Paris, 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, Assistance Publ Hop Paris, F-75743 Paris 15, France

Smith, Ursula M.
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, Assistance Publ Hop Paris, 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, Assistance Publ Hop Paris, 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, Assistance Publ Hop Paris, F-75743 Paris 15, France

Faivre, Laurence
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, Assistance Publ Hop Paris, F-75743 Paris 15, France

Laurent, Nicole
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, Assistance Publ Hop Paris, F-75743 Paris 15, France

Foliguet, Bernard
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, Assistance Publ Hop Paris, 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, Assistance Publ Hop Paris, 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, Assistance Publ Hop Paris, 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, Assistance Publ Hop Paris, 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, Assistance Publ Hop Paris, 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, Assistance Publ Hop Paris, F-75743 Paris 15, France

Boddaert, Nathalie
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, Assistance Publ Hop Paris, F-75743 Paris 15, France

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

Antignac, Corinne
论文数: 0 引用数: 0
h-index: 0
机构: Hop Necker Enfants Malad, Dept Genet, Assistance Publ Hop Paris, 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, Assistance Publ Hop Paris, F-75743 Paris 15, France
[4]
Functional genomics of the cilium, a sensory organelle
[J].
Blacque, OE
;
Perens, EA
;
Boroevich, KA
;
Inglis, PN
;
Li, CM
;
Warner, A
;
Khattra, J
;
Holt, RA
;
Ou, GS
;
Mah, AK
;
McKay, SJ
;
Huang, P
;
Swoboda, P
;
Jones, SJM
;
Marra, MA
;
Baillie, DL
;
Moerman, DG
;
Shaham, S
;
Leroux, MR
.
CURRENT BIOLOGY,
2005, 15 (10)
:935-941

Blacque, OE
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

Perens, EA
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

Boroevich, KA
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

Inglis, PN
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

Li, CM
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

Warner, A
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

Khattra, J
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

Holt, RA
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

Ou, GS
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

Mah, AK
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

McKay, SJ
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

Huang, P
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

Swoboda, P
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

Jones, SJM
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

Marra, MA
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

Baillie, DL
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

Moerman, DG
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

Shaham, S
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada

Leroux, MR
论文数: 0 引用数: 0
h-index: 0
机构: Simon Fraser Univ, Dept Mol Biol & Biochem, Burnaby, BC V5A 1S6, Canada
[5]
Lack of cilia and differentiation defects in the liver of human foetuses with the Meckel syndrome
[J].
Clotman, Frederic
;
Libbrecht, Louis
;
Killingsworth, Murray C.
;
Loo, Christine C. K.
;
Roskams, Tania
;
Lemaigre, Frederic P.
.
LIVER INTERNATIONAL,
2008, 28 (03)
:377-384

Clotman, Frederic
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, Sch Med, Hormone & Metab Res Unit, de Duve Inst, B-1200 Brussels, Belgium Catholic Univ Louvain, Sch Med, Hormone & Metab Res Unit, de Duve Inst, B-1200 Brussels, Belgium

Libbrecht, Louis
论文数: 0 引用数: 0
h-index: 0
机构:
Katholieke Univ Leuven, Lab Morphol & Mol Pathol, Louvain, Belgium Catholic Univ Louvain, Sch Med, Hormone & Metab Res Unit, de Duve Inst, B-1200 Brussels, Belgium

Killingsworth, Murray C.
论文数: 0 引用数: 0
h-index: 0
机构:
S Western Area Pathol Serv, Electron Microscopy Lab, Liverpool, NSW, Australia Catholic Univ Louvain, Sch Med, Hormone & Metab Res Unit, de Duve Inst, B-1200 Brussels, Belgium

Loo, Christine C. K.
论文数: 0 引用数: 0
h-index: 0
机构:
S Western Area Pathol Serv, Dept Anat Pathol, Liverpool, NSW, Australia Catholic Univ Louvain, Sch Med, Hormone & Metab Res Unit, de Duve Inst, B-1200 Brussels, Belgium

Roskams, Tania
论文数: 0 引用数: 0
h-index: 0
机构:
Katholieke Univ Leuven, Lab Morphol & Mol Pathol, Louvain, Belgium Catholic Univ Louvain, Sch Med, Hormone & Metab Res Unit, de Duve Inst, B-1200 Brussels, Belgium

Lemaigre, Frederic P.
论文数: 0 引用数: 0
h-index: 0
机构:
Catholic Univ Louvain, Sch Med, Hormone & Metab Res Unit, de Duve Inst, B-1200 Brussels, Belgium Catholic Univ Louvain, Sch Med, Hormone & Metab Res Unit, de Duve Inst, B-1200 Brussels, Belgium
[6]
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3
[J].
Consugar, Mark B.
;
Kubly, Vickie J.
;
Lager, Donna J.
;
Hommerding, Cynthia J.
;
Wong, Wai Chong
;
Bakker, Egbert
;
Gattone, Vincent H., II
;
Torres, Vicente E.
;
Breuning, Martijn H.
;
Harris, Peter C.
.
HUMAN GENETICS,
2007, 121 (05)
:591-599

Consugar, Mark B.
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin & Mayo Fdn, Div Nephrol & Hypertens, Coll Med, Rochester, MN 55905 USA

Kubly, Vickie J.
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin & Mayo Fdn, Div Nephrol & Hypertens, Coll Med, Rochester, MN 55905 USA

Lager, Donna J.
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin & Mayo Fdn, Div Nephrol & Hypertens, Coll Med, Rochester, MN 55905 USA

Hommerding, Cynthia J.
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin & Mayo Fdn, Div Nephrol & Hypertens, Coll Med, Rochester, MN 55905 USA

Wong, Wai Chong
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin & Mayo Fdn, Div Nephrol & Hypertens, Coll Med, Rochester, MN 55905 USA

Bakker, Egbert
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin & Mayo Fdn, Div Nephrol & Hypertens, Coll Med, Rochester, MN 55905 USA

Gattone, Vincent H., II
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin & Mayo Fdn, Div Nephrol & Hypertens, Coll Med, Rochester, MN 55905 USA

Torres, Vicente E.
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin & Mayo Fdn, Div Nephrol & Hypertens, Coll Med, Rochester, MN 55905 USA

Breuning, Martijn H.
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin & Mayo Fdn, Div Nephrol & Hypertens, Coll Med, Rochester, MN 55905 USA

Harris, Peter C.
论文数: 0 引用数: 0
h-index: 0
机构: Mayo Clin & Mayo Fdn, Div Nephrol & Hypertens, Coll Med, Rochester, MN 55905 USA
[7]
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation
[J].
Dawe, Helen R.
;
Smith, Ursula M.
;
Cullinane, Andrew R.
;
Gerrelli, Dianne
;
Cox, Phillip
;
Badano, Jose L.
;
Blair-Reid, Sarah
;
Sriram, Nisha
;
Katsanis, Nicholas
;
Attie-Bitach, Tania
;
Afford, Simon C.
;
Copp, Andrew J.
;
Kelly, Deirdre A.
;
Gull, Keith
;
Johnson, Colin A.
.
HUMAN MOLECULAR GENETICS,
2007, 16 (02)
:173-186

Dawe, Helen R.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sch Med, Div Reprod & Child Hlth, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Smith, Ursula M.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sch Med, Div Reprod & Child Hlth, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Cullinane, Andrew R.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sch Med, Div Reprod & Child Hlth, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Gerrelli, Dianne
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sch Med, Div Reprod & Child Hlth, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Cox, Phillip
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sch Med, Div Reprod & Child Hlth, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Badano, Jose L.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sch Med, Div Reprod & Child Hlth, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Blair-Reid, Sarah
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sch Med, Div Reprod & Child Hlth, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Sriram, Nisha
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sch Med, Div Reprod & Child Hlth, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Katsanis, Nicholas
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sch Med, Div Reprod & Child Hlth, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Attie-Bitach, Tania
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sch Med, Div Reprod & Child Hlth, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Afford, Simon C.
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h-index: 0
机构: Univ Birmingham, Sch Med, Div Reprod & Child Hlth, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Copp, Andrew J.
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h-index: 0
机构: Univ Birmingham, Sch Med, Div Reprod & Child Hlth, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

Kelly, Deirdre A.
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h-index: 0
机构: Univ Birmingham, Sch Med, Div Reprod & Child Hlth, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England

论文数: 引用数:
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机构:

Johnson, Colin A.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sch Med, Div Reprod & Child Hlth, Sect Med & Mol Genet, Birmingham B15 2TT, W Midlands, England
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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
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Delous, Marion
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Baala, Lekbir
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Salomon, Remi
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Laclef, Christine
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Vierkotten, Jeanette
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Tory, Kalman
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Golzio, Christelle
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Lacoste, Tiphanie
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Besse, Laurianne
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Ozilou, Catherine
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Moutkine, Imane
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Hellman, Nathan E.
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Anselme, Isabelle
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Silbermann, Flora
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Vesque, Christine
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Gerhardt, Christoph
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Rattenberry, Eleanor
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Wolf, Matthias T. F.
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Gubler, Marie Claire
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Martinovic, Jelena
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Encha-Razavi, Ferechte
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Boddaert, Nathalie
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Gonzales, Marie
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Macher, Marie Alice
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Nivet, Hubert
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Champion, Gerard
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Bertheleme, Jean Pierre
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Niaudet, Patrick
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McDonald, Fiona
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Hildebrandt, Friedhelm
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Johnson, Colin A.
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Vekemans, Michel
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Antignac, Corinne
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Ruether, Ulrich
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Attie-Bitach, Tania
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NATURE GENETICS,
2007, 39 (07)
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Delous, Marion
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Baala, Lekbir
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Salomon, Remi
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Laclef, Christine
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Vierkotten, Jeanette
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Tory, Kalman
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Golzio, Christelle
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Lacoste, Tiphanie
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Besse, Laurianne
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Ozilou, Catherine
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Moutkine, Imane
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Hellman, Nathan E.
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Anselme, Isabelle
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Silbermann, Flora
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Vesque, Christine
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Gerhardt, Christoph
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Rattenberry, Eleanor
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Wolf, Matthias T. F.
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Gubler, Marie Claire
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Martinovic, Jelena
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Encha-Razavi, Ferechte
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Boddaert, Nathalie
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Gonzales, Marie
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Macher, Marie Alice
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Nivet, Hubert
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Champion, Gerard
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Bertheleme, Jean Pierre
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Niaudet, Patrick
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

McDonald, Fiona
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Hildebrandt, Friedhelm
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Johnson, Colin A.
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Vekemans, Michel
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Antignac, Corinne
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Ruether, Ulrich
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Schneider-Maunoury, Sylvie
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Attie-Bitach, Tania
论文数: 0 引用数: 0
h-index: 0
机构: INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France

Saunier, Sophie
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France INSERM, Hop Necker Enfants Malad, U574, F-75015 Paris, France
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Mechanisms of disease - When cilia go bad: cilia defects and ciliopathies
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Fliegauf, Manfred
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Benzing, Thomas
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Omran, Heymut
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NATURE REVIEWS MOLECULAR CELL BIOLOGY,
2007, 8 (11)
:880-893

Fliegauf, Manfred
论文数: 0 引用数: 0
h-index: 0
机构: Univ Hosp Freiburg, Dept Paediat & Adolescent Med, D-79106 Freiburg, Germany

Benzing, Thomas
论文数: 0 引用数: 0
h-index: 0
机构: Univ Hosp Freiburg, Dept Paediat & Adolescent Med, D-79106 Freiburg, Germany

Omran, Heymut
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Freiburg, Dept Paediat & Adolescent Med, D-79106 Freiburg, Germany Univ Hosp Freiburg, Dept Paediat & Adolescent Med, D-79106 Freiburg, Germany
[10]
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome
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Frank, Valeska
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den Hollander, Anneke I.
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Bruechle, Nadina Ortiz
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Zonneveld, Marijke N.
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Nuernberg, Gudrun
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Becker, Christian
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Du Bois, Gabriele
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Kendziorra, Heide
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Roosing, Susanne
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Senderek, Jan
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Nuernberg, Peter
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Cremers, Frans P. M.
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Zerres, Klaus
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Bergmann, Carsten
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HUMAN MUTATION,
2008, 29 (01)
:45-52

Frank, Valeska
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

den Hollander, Anneke I.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Bruechle, Nadina Ortiz
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Zonneveld, Marijke N.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Nuernberg, Gudrun
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Cologne Ctr Genom, Cologne, Germany
RZPD Deutsch Ressourcenzentrum Genomforsch GmbH, Berlin, Germany Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Becker, Christian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Cologne Ctr Genom, Cologne, Germany
RZPD Deutsch Ressourcenzentrum Genomforsch GmbH, Berlin, Germany Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Du Bois, Gabriele
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Chromosomal Diagnost & Genet Counselling, Boblingen, Germany Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Kendziorra, Heide
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Tubingen, Dept Pathol, Tubingen, Germany Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Roosing, Susanne
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Senderek, Jan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Nuernberg, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Cologne Ctr Genom, Cologne, Germany
Univ Cologne, Inst Genet, D-5000 Cologne, Germany Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Cremers, Frans P. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen Med Ctr, Nijmegen Ctr Mol Life Sci, Dept Human Genet, Nijmegen, Netherlands Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Zerres, Klaus
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Bergmann, Carsten
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany Univ Aachen, Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany