共 121 条
[1]
Variable expressivity of ciliopathy neurological phenotypes that encompass MeckelGruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects
[J].
Abdelhamed, Zakia A.
;
Wheway, Gabrielle
;
Szymanska, Katarzyna
;
Natarajan, Subaashini
;
Toomes, Carmel
;
Inglehearn, Chris
;
Johnson, Colin A.
.
HUMAN MOLECULAR GENETICS,
2013, 22 (07)
:1358-1372

Abdelhamed, Zakia A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, Leeds Inst Mol Med, Sect Ophthalmol & Neurosci, Ciliopathy Res Grp, Leeds LS9 7TF, W Yorkshire, England
Al Azhar Univ, Fac Med, Dept Anat & Embryol, Cairo, Egypt Univ Leeds, Leeds Inst Mol Med, Sect Ophthalmol & Neurosci, Ciliopathy Res Grp, Leeds LS9 7TF, W Yorkshire, England

Wheway, Gabrielle
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, Leeds Inst Mol Med, Sect Ophthalmol & Neurosci, Ciliopathy Res Grp, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Sect Ophthalmol & Neurosci, Ciliopathy Res Grp, Leeds LS9 7TF, W Yorkshire, England

Szymanska, Katarzyna
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, Leeds Inst Mol Med, Sect Ophthalmol & Neurosci, Ciliopathy Res Grp, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Sect Ophthalmol & Neurosci, Ciliopathy Res Grp, Leeds LS9 7TF, W Yorkshire, England

Natarajan, Subaashini
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, Leeds Inst Mol Med, Sect Ophthalmol & Neurosci, Ciliopathy Res Grp, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Sect Ophthalmol & Neurosci, Ciliopathy Res Grp, Leeds LS9 7TF, W Yorkshire, England

论文数: 引用数:
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Inglehearn, Chris
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, Leeds Inst Mol Med, Sect Ophthalmol & Neurosci, Ciliopathy Res Grp, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Sect Ophthalmol & Neurosci, Ciliopathy Res Grp, Leeds LS9 7TF, W Yorkshire, England

Johnson, Colin A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, Leeds Inst Mol Med, Sect Ophthalmol & Neurosci, Ciliopathy Res Grp, Leeds LS9 7TF, W Yorkshire, England Univ Leeds, Leeds Inst Mol Med, Sect Ophthalmol & Neurosci, Ciliopathy Res Grp, Leeds LS9 7TF, W Yorkshire, England
[2]
A meckelinfilamin A interaction mediates ciliogenesis
[J].
Adams, Matthew
;
Simms, Roslyn J.
;
Abdelhamed, Zakia
;
Dawe, Helen R.
;
Szymanska, Katarzyna
;
Logan, Clare V.
;
Wheway, Gabrielle
;
Pitt, Eva
;
Gull, Keith
;
Knowles, Margaret A.
;
Blair, Edward
;
Cross, Sally H.
;
Sayer, John A.
;
Johnson, Colin A.
.
HUMAN MOLECULAR GENETICS,
2012, 21 (06)
:1272-1286

Adams, Matthew
论文数: 0 引用数: 0
h-index: 0
机构: St James Univ Hosp, Leeds Inst Mol Med, Dept Ophthalmol & Neurosci, Ciliopathy Res Grp,Sect Ophthalmol & Neurosci, Leeds LS9 7TF, W Yorkshire, England

Simms, Roslyn J.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Int Ctr Life, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England St James Univ Hosp, Leeds Inst Mol Med, Dept Ophthalmol & Neurosci, Ciliopathy Res Grp,Sect Ophthalmol & Neurosci, Leeds LS9 7TF, W Yorkshire, England

Abdelhamed, Zakia
论文数: 0 引用数: 0
h-index: 0
机构: St James Univ Hosp, Leeds Inst Mol Med, Dept Ophthalmol & Neurosci, Ciliopathy Res Grp,Sect Ophthalmol & Neurosci, Leeds LS9 7TF, W Yorkshire, England

Dawe, Helen R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Exeter, Coll Life & Environm Sci, Exeter EX4 4QD, Devon, England St James Univ Hosp, Leeds Inst Mol Med, Dept Ophthalmol & Neurosci, Ciliopathy Res Grp,Sect Ophthalmol & Neurosci, Leeds LS9 7TF, W Yorkshire, England

Szymanska, Katarzyna
论文数: 0 引用数: 0
h-index: 0
机构: St James Univ Hosp, Leeds Inst Mol Med, Dept Ophthalmol & Neurosci, Ciliopathy Res Grp,Sect Ophthalmol & Neurosci, Leeds LS9 7TF, W Yorkshire, England

Logan, Clare V.
论文数: 0 引用数: 0
h-index: 0
机构: St James Univ Hosp, Leeds Inst Mol Med, Dept Ophthalmol & Neurosci, Ciliopathy Res Grp,Sect Ophthalmol & Neurosci, Leeds LS9 7TF, W Yorkshire, England

Wheway, Gabrielle
论文数: 0 引用数: 0
h-index: 0
机构: St James Univ Hosp, Leeds Inst Mol Med, Dept Ophthalmol & Neurosci, Ciliopathy Res Grp,Sect Ophthalmol & Neurosci, Leeds LS9 7TF, W Yorkshire, England

Pitt, Eva
论文数: 0 引用数: 0
h-index: 0
机构:
St James Univ Hosp, Leeds Inst Mol Med, Sect Expt Oncol, Leeds LS9 7TF, W Yorkshire, England St James Univ Hosp, Leeds Inst Mol Med, Dept Ophthalmol & Neurosci, Ciliopathy Res Grp,Sect Ophthalmol & Neurosci, Leeds LS9 7TF, W Yorkshire, England

Gull, Keith
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Oxford, Sir William Dunn Sch Pathol, Oxford OX1 3RE, England St James Univ Hosp, Leeds Inst Mol Med, Dept Ophthalmol & Neurosci, Ciliopathy Res Grp,Sect Ophthalmol & Neurosci, Leeds LS9 7TF, W Yorkshire, England

Knowles, Margaret A.
论文数: 0 引用数: 0
h-index: 0
机构:
St James Univ Hosp, Leeds Inst Mol Med, Sect Expt Oncol, Leeds LS9 7TF, W Yorkshire, England St James Univ Hosp, Leeds Inst Mol Med, Dept Ophthalmol & Neurosci, Ciliopathy Res Grp,Sect Ophthalmol & Neurosci, Leeds LS9 7TF, W Yorkshire, England

Blair, Edward
论文数: 0 引用数: 0
h-index: 0
机构:
Churchill Hosp, Dept Clin Genet, Oxford OX3 7LJ, England St James Univ Hosp, Leeds Inst Mol Med, Dept Ophthalmol & Neurosci, Ciliopathy Res Grp,Sect Ophthalmol & Neurosci, Leeds LS9 7TF, W Yorkshire, England

Cross, Sally H.
论文数: 0 引用数: 0
h-index: 0
机构:
Western Gen Hosp, MRC Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland St James Univ Hosp, Leeds Inst Mol Med, Dept Ophthalmol & Neurosci, Ciliopathy Res Grp,Sect Ophthalmol & Neurosci, Leeds LS9 7TF, W Yorkshire, England

Sayer, John A.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Int Ctr Life, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England St James Univ Hosp, Leeds Inst Mol Med, Dept Ophthalmol & Neurosci, Ciliopathy Res Grp,Sect Ophthalmol & Neurosci, Leeds LS9 7TF, W Yorkshire, England

Johnson, Colin A.
论文数: 0 引用数: 0
h-index: 0
机构:
St James Univ Hosp, Leeds Inst Mol Med, Dept Ophthalmol & Neurosci, Ciliopathy Res Grp,Sect Ophthalmol & Neurosci, Leeds LS9 7TF, W Yorkshire, England St James Univ Hosp, Leeds Inst Mol Med, Dept Ophthalmol & Neurosci, Ciliopathy Res Grp,Sect Ophthalmol & Neurosci, Leeds LS9 7TF, W Yorkshire, England
[3]
Development and distribution of neuronal cilia in mouse neocortex
[J].
Arellano, Jon I.
;
Guadiana, Sarah M.
;
Breunig, Joshua J.
;
Rakic, Pasko
;
Sarkisian, Matthew R.
.
JOURNAL OF COMPARATIVE NEUROLOGY,
2012, 520 (04)
:848-873

Arellano, Jon I.
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Sch Med, Dept Neurobiol, New Haven, CT 06510 USA Univ Florida, Dept Neurosci, McKnight Brain Inst, Gainesville, FL 32610 USA

Guadiana, Sarah M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Florida, Dept Neurosci, McKnight Brain Inst, Gainesville, FL 32610 USA Univ Florida, Dept Neurosci, McKnight Brain Inst, Gainesville, FL 32610 USA

Breunig, Joshua J.
论文数: 0 引用数: 0
h-index: 0
机构:
Cedars Sinai Med Ctr, Dept Biomed Sci, Regenerat Med Inst, Los Angeles, CA 90048 USA
Cedars Sinai Med Ctr, Dept Neurosurg, Maxine Dunitz Neurosurg Inst, Los Angeles, CA 90048 USA Univ Florida, Dept Neurosci, McKnight Brain Inst, Gainesville, FL 32610 USA

Rakic, Pasko
论文数: 0 引用数: 0
h-index: 0
机构:
Yale Univ, Sch Med, Dept Neurobiol, New Haven, CT 06510 USA Univ Florida, Dept Neurosci, McKnight Brain Inst, Gainesville, FL 32610 USA

Sarkisian, Matthew R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Florida, Dept Neurosci, McKnight Brain Inst, Gainesville, FL 32610 USA Univ Florida, Dept Neurosci, McKnight Brain Inst, Gainesville, FL 32610 USA
[4]
Basten Sander G, 2013, Cilia, V2, P6, DOI 10.1186/2046-2530-2-6
[5]
IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy
[J].
Beales, Philip L.
;
Bland, Elizabeth
;
Tobin, Jonathan L.
;
Bacchelli, Chiara
;
Tuysuz, Beyhan
;
Hill, Josephine
;
Rix, Suzanne
;
Pearson, Chad G.
;
Kai, Masatake
;
Hartley, Jane
;
Johnson, Colin
;
Irving, Melita
;
Elcioglu, Nursel
;
Winey, Mark
;
Tada, Masazumi
;
Scambler, Peter J.
.
NATURE GENETICS,
2007, 39 (06)
:727-729

Beales, Philip L.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Bland, Elizabeth
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Tobin, Jonathan L.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Bacchelli, Chiara
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Tuysuz, Beyhan
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Hill, Josephine
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Rix, Suzanne
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Pearson, Chad G.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Kai, Masatake
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Hartley, Jane
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

论文数: 引用数:
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Irving, Melita
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Elcioglu, Nursel
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Winey, Mark
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Tada, Masazumi
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England

Scambler, Peter J.
论文数: 0 引用数: 0
h-index: 0
机构: UCL, Inst Child Hlth, Mol Med Unit, London WC1N 1EH, England
[6]
Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia
[J].
Berbari, Nicolas F.
;
Lewis, Jacqueline S.
;
Bishop, Georgia A.
;
Askwith, Candice C.
;
Mykytyn, Kirk
.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
2008, 105 (11)
:4242-4246

Berbari, Nicolas F.
论文数: 0 引用数: 0
h-index: 0
机构:
Ohio State Univ, Coll Med, Dept Pharmacol, Columbus, OH 43210 USA
Ohio State Univ, Coll Med, Dept Internal Med, Div Human Genet, Columbus, OH 43210 USA Ohio State Univ, Coll Med, Dept Pharmacol, Columbus, OH 43210 USA

Lewis, Jacqueline S.
论文数: 0 引用数: 0
h-index: 0
机构:
Ohio State Univ, Coll Med, Dept Pharmacol, Columbus, OH 43210 USA
Ohio State Univ, Coll Med, Dept Internal Med, Div Human Genet, Columbus, OH 43210 USA Ohio State Univ, Coll Med, Dept Pharmacol, Columbus, OH 43210 USA

Bishop, Georgia A.
论文数: 0 引用数: 0
h-index: 0
机构:
Ohio State Univ, Coll Med, Dept Neurosci, Columbus, OH 43210 USA Ohio State Univ, Coll Med, Dept Pharmacol, Columbus, OH 43210 USA

Askwith, Candice C.
论文数: 0 引用数: 0
h-index: 0
机构:
Ohio State Univ, Coll Med, Dept Neurosci, Columbus, OH 43210 USA Ohio State Univ, Coll Med, Dept Pharmacol, Columbus, OH 43210 USA

Mykytyn, Kirk
论文数: 0 引用数: 0
h-index: 0
机构:
Ohio State Univ, Coll Med, Dept Pharmacol, Columbus, OH 43210 USA
Ohio State Univ, Coll Med, Dept Internal Med, Div Human Genet, Columbus, OH 43210 USA Ohio State Univ, Coll Med, Dept Pharmacol, Columbus, OH 43210 USA
[7]
Hippocampal neurons possess primary cilia in culture
[J].
Berbari, Nicolas F.
;
Bishop, Georgia A.
;
Askwith, Candice C.
;
Lewis, Jacqueline S.
;
Mykytyn, Kirk
.
JOURNAL OF NEUROSCIENCE RESEARCH,
2007, 85 (05)
:1095-1100

Berbari, Nicolas F.
论文数: 0 引用数: 0
h-index: 0
机构: Ohio State Univ, Coll Med, Dept Pharmacol, Columbus, OH 43210 USA

Bishop, Georgia A.
论文数: 0 引用数: 0
h-index: 0
机构: Ohio State Univ, Coll Med, Dept Pharmacol, Columbus, OH 43210 USA

Askwith, Candice C.
论文数: 0 引用数: 0
h-index: 0
机构: Ohio State Univ, Coll Med, Dept Pharmacol, Columbus, OH 43210 USA

Lewis, Jacqueline S.
论文数: 0 引用数: 0
h-index: 0
机构: Ohio State Univ, Coll Med, Dept Pharmacol, Columbus, OH 43210 USA

Mykytyn, Kirk
论文数: 0 引用数: 0
h-index: 0
机构: Ohio State Univ, Coll Med, Dept Pharmacol, Columbus, OH 43210 USA
[8]
Loss of nephrocystin-3 function can cause embryonic lethality, meckel-gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia
[J].
Bergmann, Carsten
;
Fliegauf, Manfred
;
Bruechle, Nadina Ortiz
;
Frank, Valeska
;
Olbrich, Heike
;
Kirschner, Jan
;
Schermer, Bernhard
;
Schmedding, Ingolf
;
Kispert, Andreas
;
Kraenzlin, Bettina
;
Nuernberg, Gudrun
;
Becker, Christian
;
Grimm, Tiemo
;
Girschick, Gundula
;
Lynch, Sally A.
;
Kelehan, Peter
;
Senderek, Jan
;
Neuhaus, Thomas J.
;
Stallmach, Thomas
;
Zentgraf, Hanswalter
;
Nuernberg, Peter
;
Gretz, Norbert
;
Lo, Cecilia
;
Lienkamp, Soeren
;
Schaefer, Tobias
;
Walz, Gerd
;
Benzing, Thomas
;
Zerres, Klaus
;
Omran, Heymut
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2008, 82 (04)
:959-970

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

Fliegauf, Manfred
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Med Ctr, Dept Pediat & Adolescent Med, D-79106 Freiburg, Germany 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:
Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

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

Olbrich, Heike
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Med Ctr, Dept Pediat & Adolescent Med, D-79106 Freiburg, Germany Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Kirschner, Jan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Med Ctr, Dept Pediat & Adolescent Med, D-79106 Freiburg, Germany Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Schermer, Bernhard
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Dept Med 4, D-50924 Cologne, Germany
Univ Cologne, Kidney Res Ctr Cologne, D-50924 Cologne, Germany Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Schmedding, Ingolf
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Dept Med 4, D-50924 Cologne, Germany
Univ Cologne, Kidney Res Ctr Cologne, D-50924 Cologne, Germany Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Kispert, Andreas
论文数: 0 引用数: 0
h-index: 0
机构:
Hannover Med Sch, Inst Mol Biol, D-30625 Hannover, Germany Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Kraenzlin, Bettina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Heidelberg, Klinikum Mannheim, Med Res Ctr, D-68167 Mannheim, Germany 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, D-50674 Cologne, Germany
RZPD Deutsch Ressourcenzentrum Genomforsch Gmbh, D-13125 Berlin, Germany
Univ Wurzburg, Dept Obstet & Gynecol, D-97080 Wurzburg, Germany 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, D-50674 Cologne, Germany
RZPD Deutsch Ressourcenzentrum Genomforsch Gmbh, D-13125 Berlin, Germany Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Grimm, Tiemo
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Wurzburg, Dept Human Genet, D-97074 Wurzburg, Germany Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

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

Lynch, Sally A.
论文数: 0 引用数: 0
h-index: 0
机构:
Our Ladys Hosp Sick Children, Natl Ctr Med Genet, Dublin 12, Ireland Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Kelehan, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Matern Hosp, Dept Histopathol, Dublin 2, Ireland 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: Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Neuhaus, Thomas J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zurich, Childrens Hosp, Nephrol Unit, CH-8032 Zurich, Switzerland Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Stallmach, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Zurich, Dept Pathol, CH-8091 Zurich, Switzerland Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Zentgraf, Hanswalter
论文数: 0 引用数: 0
h-index: 0
机构:
Deutsch Krebsforschungszentrum, D-69120 Heidelberg, Germany 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, D-50674 Cologne, Germany
Univ Cologne, Inst Genet, D-50674 Cologne, Germany Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Gretz, Norbert
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Heidelberg, Klinikum Mannheim, Med Res Ctr, D-68167 Mannheim, Germany Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Lo, Cecilia
论文数: 0 引用数: 0
h-index: 0
机构:
NHLBI, Dev Biol Lab, NIH, Bethesda, MD 20892 USA Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Lienkamp, Soeren
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Freiburg, Div Renal, D-79106 Freiburg, Germany Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Schaefer, Tobias
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Freiburg, Div Renal, D-79106 Freiburg, Germany Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Walz, Gerd
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Freiburg, Div Renal, D-79106 Freiburg, Germany Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Benzing, Thomas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cologne, Dept Med 4, D-50924 Cologne, Germany
Univ Cologne, Kidney Res Ctr Cologne, D-50924 Cologne, Germany 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:
Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany

Omran, Heymut
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Med Ctr, Dept Pediat & Adolescent Med, D-79106 Freiburg, Germany Rhein Westfal TH Aachen, Dept Human Genet, D-52074 Aachen, Germany
[9]
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
[J].
Bielas, Stephanie L.
;
Silhavy, Jennifer L.
;
Brancati, Francesco
;
Kisseleva, Marina V.
;
Al-Gazali, Lihadh
;
Laszlo Sztriha
;
Bayoumi, Riad A.
;
Zaki, Maha S.
;
Abdel-Aleem, Alice
;
Rosti, Rasim Ozgur
;
Kayserili, Hulya
;
Swistun, Dominika
;
Scott, Lesley C.
;
Bertini, Enrico
;
Boltshauser, Eugen
;
Fazzi, Elisa
;
Travaglini, Lorena
;
Field, Seth J.
;
Gayral, Stephanie
;
Jacoby, Monique
;
Schurmans, Stephane
;
Dallapiccola, Bruno
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Majerus, Philip W.
;
Valente, Enza Maria
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Gleeson, Joseph G.
.
NATURE GENETICS,
2009, 41 (09)
:1032-U108

Bielas, Stephanie L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Silhavy, Jennifer L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Brancati, Francesco
论文数: 0 引用数: 0
h-index: 0
机构:
Casa Sollievo Sofferenza Hosp, Casa Sollievo Sofferenza Mendel Inst, Rome, Italy
G Annunzio Univ Fdn, Dept Biomed Sci, Ctr Studi Invecchiamento, Chieti, Italy
G Annunzio Univ Fdn, Aging Res Ctr, Ctr Studi Invecchiamento, Chieti, Italy Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Kisseleva, Marina V.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Dept Internal Med, Div Hematol, St Louis, MO 63110 USA Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Al-Gazali, Lihadh
论文数: 0 引用数: 0
h-index: 0
机构:
United Arab Emirates Univ, Fac Med & Hlth Sci, Dept Pediat, Al Ain, U Arab Emirates
United Arab Emirates Univ, Fac Med & Hlth Sci, Dept Pathol, Al Ain, U Arab Emirates Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Laszlo Sztriha
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Szeged, Dept Pediat, Szeged, Hungary Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Bayoumi, Riad A.
论文数: 0 引用数: 0
h-index: 0
机构:
Sultan Qaboos Univ, Coll Med, Al Khoud, Oman Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Zaki, Maha S.
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Dept Clin Genet, Cairo, Egypt Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Abdel-Aleem, Alice
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Ctr, Med Mol Genet Dept, Human Genet & Genome Res Div, Cairo, Egypt Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Rosti, Rasim Ozgur
论文数: 0 引用数: 0
h-index: 0
机构:
Istanbul Univ, Istanbul Fac Med, Istanbul, Turkey Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Kayserili, Hulya
论文数: 0 引用数: 0
h-index: 0
机构:
Istanbul Univ, Istanbul Fac Med, Istanbul, Turkey Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Swistun, Dominika
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Scott, Lesley C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Bertini, Enrico
论文数: 0 引用数: 0
h-index: 0
机构:
Bambino Gesu Childrens Res Hosp, Mol Med Unit, Dept Lab Med, Rome, Italy Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Boltshauser, Eugen
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Childrens Hosp Zurich, Dept Paediat Neurol, Zurich, Switzerland Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Fazzi, Elisa
论文数: 0 引用数: 0
h-index: 0
机构:
Dept Child Neurol & Psychiat, Pavia, Italy Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Travaglini, Lorena
论文数: 0 引用数: 0
h-index: 0
机构:
Casa Sollievo Sofferenza Hosp, Casa Sollievo Sofferenza Mendel Inst, Rome, Italy Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Field, Seth J.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Dept Med, Div Endocrinol & Metab, La Jolla, CA 92093 USA Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Gayral, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles, IRIBHM, IBMM, Gosselies, Belgium Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Jacoby, Monique
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles, IRIBHM, IBMM, Gosselies, Belgium Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Schurmans, Stephane
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Libre Bruxelles, IRIBHM, IBMM, Gosselies, Belgium Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Dallapiccola, Bruno
论文数: 0 引用数: 0
h-index: 0
机构:
Casa Sollievo Sofferenza Hosp, Casa Sollievo Sofferenza Mendel Inst, Rome, Italy
Univ Roma La Sapienza, Dept Expt Med, I-00185 Rome, Italy Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

Majerus, Philip W.
论文数: 0 引用数: 0
h-index: 0
机构:
Washington Univ, Sch Med, Dept Internal Med, Div Hematol, St Louis, MO 63110 USA Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA

论文数: 引用数:
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Gleeson, Joseph G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA Univ Calif San Diego, Howard Hughes Med Inst, Neurogenet Lab, Dept Neurosci & Pediat, La Jolla, CA 92093 USA
[10]
Primary cilia regulate mTORC1 activity and cell size through Lkb1
[J].
Boehlke, Christopher
;
Kotsis, Fruzsina
;
Patel, Vishal
;
Braeg, Simone
;
Voelker, Henriette
;
Bredt, Saskia
;
Beyer, Theresa
;
Janusch, Heike
;
Hamann, Christoph
;
Goedel, Markus
;
Mueller, Klaus
;
Herbst, Martin
;
Hornung, Miriam
;
Doerken, Mara
;
Koettgen, Michael
;
Nitschke, Roland
;
Igarashi, Peter
;
Walz, Gerd
;
Kuehn, E. Wolfgang
.
NATURE CELL BIOLOGY,
2010, 12 (11)
:1115-U126

Boehlke, Christopher
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany

Kotsis, Fruzsina
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany

Patel, Vishal
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas Dallas, SW Med Ctr, Div Nephrol, Dallas, TX 75390 USA Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany

Braeg, Simone
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany

Voelker, Henriette
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany

Bredt, Saskia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany

Beyer, Theresa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany

Janusch, Heike
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany

Hamann, Christoph
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany

Goedel, Markus
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany

Mueller, Klaus
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany

Herbst, Martin
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany

Hornung, Miriam
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany

Doerken, Mara
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany

Koettgen, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany

Nitschke, Roland
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Life Imaging Ctr, Ctr Biol Syst Anal, D-79104 Freiburg, Germany
Univ Freiburg, Ctr Biol Signalling Studies BIOSS, D-79108 Freiburg, Germany Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany

Igarashi, Peter
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Texas Dallas, SW Med Ctr, Div Nephrol, Dallas, TX 75390 USA Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany

论文数: 引用数:
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Kuehn, E. Wolfgang
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany Univ Freiburg, Renal Unit, Dept Med, Univ Med Ctr, D-79106 Freiburg, Germany