共 11 条
[1]
Allelic Heterogeneity in Inbred Populations: The Saudi Experience With Alstrom Syndrome as an Illustrative Example
[J].
Aldahmesh, Mohamed A.
;
Abu-Safieh, Leen
;
Khan, Arif O.
;
Al-Hassnan, Zuhair N.
;
Shaheen, Ranad
;
Rajab, Mohammed
;
Monies, Dorota
;
Meyer, Brian F.
;
Alkuraya, Fowzan S.
.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A,
2009, 149A (04)
:662-665

论文数: 引用数:
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Abu-Safieh, Leen
论文数: 0 引用数: 0
h-index: 0
机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh 11211, Saudi Arabia

Khan, Arif O.
论文数: 0 引用数: 0
h-index: 0
机构:
King Khalid Eye Specialist Hosp, Riyadh 11462, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh 11211, Saudi Arabia

Al-Hassnan, Zuhair N.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Med Genet, Riyadh 11211, Saudi Arabia
Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh 11211, Saudi Arabia

Shaheen, Ranad
论文数: 0 引用数: 0
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机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh 11211, Saudi Arabia

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Monies, Dorota
论文数: 0 引用数: 0
h-index: 0
机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh 11211, Saudi Arabia

Meyer, Brian F.
论文数: 0 引用数: 0
h-index: 0
机构: King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh 11211, Saudi Arabia

Alkuraya, Fowzan S.
论文数: 0 引用数: 0
h-index: 0
机构:
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh 11211, Saudi Arabia
Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia
King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia
King Khalid Univ Hosp, Dept Pediat, Riyadh 11472, Saudi Arabia King Faisal Specialist Hosp & Res Ctr, Dept Genet, Dev Genet Unit, Riyadh 11211, Saudi Arabia
[2]
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome
[J].
Collin, GB
;
Marshall, JD
;
Ikeda, A
;
So, WV
;
Russell-Eggitt, I
;
Maffei, P
;
Beck, S
;
Boerkoel, CF
;
Sicolo, N
;
Martin, M
;
Nishina, PM
;
Naggert, JK
.
NATURE GENETICS,
2002, 31 (01)
:74-78

Collin, GB
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Marshall, JD
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Ikeda, A
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

So, WV
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Russell-Eggitt, I
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Maffei, P
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Beck, S
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Boerkoel, CF
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Sicolo, N
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Martin, M
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Nishina, PM
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Naggert, JK
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA
[3]
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome
[J].
Hearn, T
;
Renforth, GL
;
Spalluto, C
;
Hanley, NA
;
Piper, K
;
Brickwood, S
;
White, C
;
Connolly, V
;
Taylor, JFN
;
Russell-Eggitt, I
;
Bonneau, D
;
Walker, M
;
Wilson, DI
.
NATURE GENETICS,
2002, 31 (01)
:79-83

Hearn, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Southampton, Southampton Gen Hosp, Div Human Genet, Southampton SO16 6YD, Hants, England

Renforth, GL
论文数: 0 引用数: 0
h-index: 0
机构: Univ Southampton, Southampton Gen Hosp, Div Human Genet, Southampton SO16 6YD, Hants, England

Spalluto, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Southampton, Southampton Gen Hosp, Div Human Genet, Southampton SO16 6YD, Hants, England

Hanley, NA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Southampton, Southampton Gen Hosp, Div Human Genet, Southampton SO16 6YD, Hants, England

Piper, K
论文数: 0 引用数: 0
h-index: 0
机构: Univ Southampton, Southampton Gen Hosp, Div Human Genet, Southampton SO16 6YD, Hants, England

Brickwood, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Southampton, Southampton Gen Hosp, Div Human Genet, Southampton SO16 6YD, Hants, England

White, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Southampton, Southampton Gen Hosp, Div Human Genet, Southampton SO16 6YD, Hants, England

Connolly, V
论文数: 0 引用数: 0
h-index: 0
机构: Univ Southampton, Southampton Gen Hosp, Div Human Genet, Southampton SO16 6YD, Hants, England

Taylor, JFN
论文数: 0 引用数: 0
h-index: 0
机构: Univ Southampton, Southampton Gen Hosp, Div Human Genet, Southampton SO16 6YD, Hants, England

Russell-Eggitt, I
论文数: 0 引用数: 0
h-index: 0
机构: Univ Southampton, Southampton Gen Hosp, Div Human Genet, Southampton SO16 6YD, Hants, England

Bonneau, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Southampton, Southampton Gen Hosp, Div Human Genet, Southampton SO16 6YD, Hants, England

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Wilson, DI
论文数: 0 引用数: 0
h-index: 0
机构: Univ Southampton, Southampton Gen Hosp, Div Human Genet, Southampton SO16 6YD, Hants, England
[4]
Alstrom syndrome (OMIM 203800): a case report and literature review
[J].
Joy, Tisha
;
Cao, Henian
;
Black, Graeme
;
Malik, Rayaz
;
Charlton-Menys, Valentine
;
Hegele, Robert A.
;
Durrington, Paul N.
.
ORPHANET JOURNAL OF RARE DISEASES,
2007, 2

Joy, Tisha
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Ontario, Robarts Res Inst, Dept Vasc Biol & Med, London, ON, Canada
Univ Western Ontario, Schulich Sch Med & Dent, London, ON, Canada Univ Western Ontario, Robarts Res Inst, Dept Vasc Biol & Med, London, ON, Canada

Cao, Henian
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Ontario, Robarts Res Inst, Dept Vasc Biol & Med, London, ON, Canada
Univ Western Ontario, Schulich Sch Med & Dent, London, ON, Canada Univ Western Ontario, Robarts Res Inst, Dept Vasc Biol & Med, London, ON, Canada

Black, Graeme
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Eye, Med Genet, Clin Sci Lab, Manchester, Lancs, England Univ Western Ontario, Robarts Res Inst, Dept Vasc Biol & Med, London, ON, Canada

Malik, Rayaz
论文数: 0 引用数: 0
h-index: 0
机构: Univ Western Ontario, Robarts Res Inst, Dept Vasc Biol & Med, London, ON, Canada

Charlton-Menys, Valentine
论文数: 0 引用数: 0
h-index: 0
机构:
Core Technol Facil, Sch Clin & Lab Sci, Cardiovasc Res Grp, Manchester, Lancs, England Univ Western Ontario, Robarts Res Inst, Dept Vasc Biol & Med, London, ON, Canada

Hegele, Robert A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Western Ontario, Robarts Res Inst, Dept Vasc Biol & Med, London, ON, Canada
Univ Western Ontario, Schulich Sch Med & Dent, London, ON, Canada Univ Western Ontario, Robarts Res Inst, Dept Vasc Biol & Med, London, ON, Canada

Durrington, Paul N.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Western Ontario, Robarts Res Inst, Dept Vasc Biol & Med, London, ON, Canada
[5]
Alstrom syndrome
[J].
Marshall, Jan D.
;
Beck, Sebastian
;
Maffei, Pietro
;
Naggert, Juergen K.
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2007, 15 (12)
:1193-1202

Marshall, Jan D.
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Genet Coordiantor Alstrom Sydrome Studies, Bar Harbor, ME 04609 USA

Beck, Sebastian
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Genet Coordiantor Alstrom Sydrome Studies, Bar Harbor, ME 04609 USA

Maffei, Pietro
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Genet Coordiantor Alstrom Sydrome Studies, Bar Harbor, ME 04609 USA

Naggert, Juergen K.
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Genet Coordiantor Alstrom Sydrome Studies, Bar Harbor, ME 04609 USA
[6]
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome
[J].
Marshall, Jan D.
;
Hinman, Elizabeth G.
;
Collin, Gayle B.
;
Beck, Sebastian
;
Cerqueira, Rita
;
Maffei, Pietro
;
Milan, Gabriella
;
Zhang, Weidong
;
Wilson, David I.
;
Hearn, Tom
;
Tavares, Purificao
;
Vettor, Roberto
;
Veronese, Caterina
;
Martin, Mitchell
;
So, W. Venus
;
Nishina, Patsy M.
;
Naggert, Juergen K.
.
HUMAN MUTATION,
2007, 28 (11)
:1114-1123

Marshall, Jan D.
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Hinman, Elizabeth G.
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Collin, Gayle B.
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Beck, Sebastian
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Cerqueira, Rita
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Maffei, Pietro
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Milan, Gabriella
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Zhang, Weidong
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Wilson, David I.
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Hearn, Tom
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Tavares, Purificao
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Vettor, Roberto
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Veronese, Caterina
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Martin, Mitchell
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

So, W. Venus
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Nishina, Patsy M.
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA

Naggert, Juergen K.
论文数: 0 引用数: 0
h-index: 0
机构: Jackson Lab, Bar Harbor, ME 04609 USA
[7]
Marshall JD, 2011, CURR GENOMICS, V12, P225, DOI 10.2174/138920211795677912
[8]
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alstrom syndrome
[J].
Pereiro, Ines
;
Hoskins, Bethan E.
;
Marshall, Jan D.
;
Collin, Gayle B.
;
Naggert, Juergen K.
;
Pineiro-Gallego, Teresa
;
Oitmaa, Eneli
;
Katsanis, Nicholas
;
Valverde, Diana
;
Beales, Philip L.
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2011, 19 (04)
:485-488

Pereiro, Ines
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Vigo, Fac Biol, Dept Bioquim Genet & Inmunol, Vigo 36310, Spain Univ Vigo, Fac Biol, Dept Bioquim Genet & Inmunol, Vigo 36310, Spain

Hoskins, Bethan E.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Child Hlth, Mol Med Unit, London, England Univ Vigo, Fac Biol, Dept Bioquim Genet & Inmunol, Vigo 36310, Spain

Marshall, Jan D.
论文数: 0 引用数: 0
h-index: 0
机构:
Jackson Lab, Bar Harbor, ME 04609 USA Univ Vigo, Fac Biol, Dept Bioquim Genet & Inmunol, Vigo 36310, Spain

Collin, Gayle B.
论文数: 0 引用数: 0
h-index: 0
机构:
Jackson Lab, Bar Harbor, ME 04609 USA Univ Vigo, Fac Biol, Dept Bioquim Genet & Inmunol, Vigo 36310, Spain

Naggert, Juergen K.
论文数: 0 引用数: 0
h-index: 0
机构:
Jackson Lab, Bar Harbor, ME 04609 USA Univ Vigo, Fac Biol, Dept Bioquim Genet & Inmunol, Vigo 36310, Spain

Pineiro-Gallego, Teresa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Vigo, Fac Biol, Dept Bioquim Genet & Inmunol, Vigo 36310, Spain Univ Vigo, Fac Biol, Dept Bioquim Genet & Inmunol, Vigo 36310, Spain

Oitmaa, Eneli
论文数: 0 引用数: 0
h-index: 0
机构:
Asper Biotech, Tartu, Estonia Univ Vigo, Fac Biol, Dept Bioquim Genet & Inmunol, Vigo 36310, Spain

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Valverde, Diana
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Vigo, Fac Biol, Dept Bioquim Genet & Inmunol, Vigo 36310, Spain Univ Vigo, Fac Biol, Dept Bioquim Genet & Inmunol, Vigo 36310, Spain

Beales, Philip L.
论文数: 0 引用数: 0
h-index: 0
机构:
UCL Inst Child Hlth, Mol Med Unit, London, England Univ Vigo, Fac Biol, Dept Bioquim Genet & Inmunol, Vigo 36310, Spain
[9]
Piñeiro-Gallego T, 2012, MOL VIS, V18, P1794
[10]
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom Syndromes
[J].
Redin, Claire
;
Le Gras, Stephanie
;
Mhamdi, Oussema
;
Geoffroy, Veronique
;
Stoetzel, Corinne
;
Vincent, Marie-Claire
;
Chiurazzi, Pietro
;
Lacombe, Didier
;
Ouertani, Ines
;
Petit, Florence
;
Till, Marianne
;
Verloes, Alain
;
Jost, Bernard
;
Chaabouni, Habiba Bouhamed
;
Dollfus, Helene
;
Mandel, Jean-Louis
;
Muller, Jean
.
JOURNAL OF MEDICAL GENETICS,
2012, 49 (08)
:502-512

Redin, Claire
论文数: 0 引用数: 0
h-index: 0
机构: Univ Strasbourg, IGBMC, Dept Neurogenet & Translat Med, CNRS,INSERM,U964,UMR7104, F-67404 Illkirch Graffenstaden, France

Le Gras, Stephanie
论文数: 0 引用数: 0
h-index: 0
机构: Univ Strasbourg, IGBMC, Dept Neurogenet & Translat Med, CNRS,INSERM,U964,UMR7104, F-67404 Illkirch Graffenstaden, France

Mhamdi, Oussema
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Tunis, Lab Human Genet, Tunis, Tunisia Univ Strasbourg, IGBMC, Dept Neurogenet & Translat Med, CNRS,INSERM,U964,UMR7104, F-67404 Illkirch Graffenstaden, France

Geoffroy, Veronique
论文数: 0 引用数: 0
h-index: 0
机构: Univ Strasbourg, IGBMC, Dept Neurogenet & Translat Med, CNRS,INSERM,U964,UMR7104, F-67404 Illkirch Graffenstaden, France

Stoetzel, Corinne
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Strasbourg, Lab Genet Med Inserm Avenir EA3949, Strasbourg, France Univ Strasbourg, IGBMC, Dept Neurogenet & Translat Med, CNRS,INSERM,U964,UMR7104, F-67404 Illkirch Graffenstaden, France

Vincent, Marie-Claire
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Univ Strasbourg, Lab Diagnost Genet, Strasbourg, France Univ Strasbourg, IGBMC, Dept Neurogenet & Translat Med, CNRS,INSERM,U964,UMR7104, F-67404 Illkirch Graffenstaden, France

Chiurazzi, Pietro
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Cattolica, Ist Genet Med, Rome, Italy Univ Strasbourg, IGBMC, Dept Neurogenet & Translat Med, CNRS,INSERM,U964,UMR7104, F-67404 Illkirch Graffenstaden, France

Lacombe, Didier
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bordeaux, CHU Bordeaux, Dept Med Genet, Bordeaux, France Univ Strasbourg, IGBMC, Dept Neurogenet & Translat Med, CNRS,INSERM,U964,UMR7104, F-67404 Illkirch Graffenstaden, France

Ouertani, Ines
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Tunis, Lab Human Genet, Tunis, Tunisia Univ Strasbourg, IGBMC, Dept Neurogenet & Translat Med, CNRS,INSERM,U964,UMR7104, F-67404 Illkirch Graffenstaden, France

Petit, Florence
论文数: 0 引用数: 0
h-index: 0
机构:
CHRU Lille, Hop Jeanne de Flandre, Serv Genet Clin, Lille, France Univ Strasbourg, IGBMC, Dept Neurogenet & Translat Med, CNRS,INSERM,U964,UMR7104, F-67404 Illkirch Graffenstaden, France

Till, Marianne
论文数: 0 引用数: 0
h-index: 0
机构:
Hosp Civils Lyon, CBPE, Serv Cytogenet Constitut, Bron, France Univ Strasbourg, IGBMC, Dept Neurogenet & Translat Med, CNRS,INSERM,U964,UMR7104, F-67404 Illkirch Graffenstaden, France

Verloes, Alain
论文数: 0 引用数: 0
h-index: 0
机构:
Robert Debre Univ Hosp, AP HP, INSERM U676, Dept Genet, Paris, France Univ Strasbourg, IGBMC, Dept Neurogenet & Translat Med, CNRS,INSERM,U964,UMR7104, F-67404 Illkirch Graffenstaden, France

Jost, Bernard
论文数: 0 引用数: 0
h-index: 0
机构: Univ Strasbourg, IGBMC, Dept Neurogenet & Translat Med, CNRS,INSERM,U964,UMR7104, F-67404 Illkirch Graffenstaden, France

Chaabouni, Habiba Bouhamed
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Tunis, Lab Human Genet, Tunis, Tunisia Univ Strasbourg, IGBMC, Dept Neurogenet & Translat Med, CNRS,INSERM,U964,UMR7104, F-67404 Illkirch Graffenstaden, France

Dollfus, Helene
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Strasbourg, Lab Genet Med Inserm Avenir EA3949, Strasbourg, France
Hop Univ Strasbourg, Serv Genet Med, Ctr Reference Affect Rares Genet Ophtalmol CARGO, Strasbourg, France Univ Strasbourg, IGBMC, Dept Neurogenet & Translat Med, CNRS,INSERM,U964,UMR7104, F-67404 Illkirch Graffenstaden, France

Mandel, Jean-Louis
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Strasbourg, IGBMC, Dept Neurogenet & Translat Med, CNRS,INSERM,U964,UMR7104, F-67404 Illkirch Graffenstaden, France
Coll France, Chaire Genet Humaine, Illkirch Graffenstaden, France Univ Strasbourg, IGBMC, Dept Neurogenet & Translat Med, CNRS,INSERM,U964,UMR7104, F-67404 Illkirch Graffenstaden, France

Muller, Jean
论文数: 0 引用数: 0
h-index: 0
机构: Univ Strasbourg, IGBMC, Dept Neurogenet & Translat Med, CNRS,INSERM,U964,UMR7104, F-67404 Illkirch Graffenstaden, France