共 8 条
[1]
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
[J].
Bovolenta, Matteo
;
Neri, Marcella
;
Fini, Sergio
;
Fabris, Marina
;
Trabanelli, Cecilia
;
Venturoli, Anna
;
Martoni, Elena
;
Bassi, Elena
;
Spitali, Pietro
;
Brioschi, Simona
;
Falzarano, Maria S.
;
Rimessi, Paola
;
Ciccone, Roberto
;
Ashton, Emma
;
McCauley, Joanne
;
Yau, Shu
;
Abbs, Stephen
;
Muntoni, Francesco
;
Merlini, Luciano
;
Gualandi, Francesca
;
Ferlini, Alessandra
.
BMC GENOMICS,
2008, 9 (1)

Bovolenta, Matteo
论文数: 0 引用数: 0
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机构:
Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy
St Anna Hosp, UO Genet Med, Brescia, Italy Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy

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Fini, Sergio
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机构:
Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy
St Anna Hosp, UO Genet Med, Brescia, Italy Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy

Fabris, Marina
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机构:
Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy
St Anna Hosp, UO Genet Med, Brescia, Italy Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy

Trabanelli, Cecilia
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机构:
Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy
St Anna Hosp, UO Genet Med, Brescia, Italy Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy

Venturoli, Anna
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机构:
Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy
St Anna Hosp, UO Genet Med, Brescia, Italy Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy

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Bassi, Elena
论文数: 0 引用数: 0
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机构:
Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy
St Anna Hosp, UO Genet Med, Brescia, Italy Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy

Spitali, Pietro
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机构:
Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy
St Anna Hosp, UO Genet Med, Brescia, Italy Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy

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Rimessi, Paola
论文数: 0 引用数: 0
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机构:
Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy
St Anna Hosp, UO Genet Med, Brescia, Italy Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy

Ciccone, Roberto
论文数: 0 引用数: 0
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机构:
Univ Pavia, Sez Biol Gen & Genet Med, I-27100 Pavia, Italy Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy

Ashton, Emma
论文数: 0 引用数: 0
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机构:
Guys & St Thomas NHS Fdn Trust, Genet Ctr, DNA Lab, London, England Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy

McCauley, Joanne
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机构:
Guys & St Thomas NHS Fdn Trust, Genet Ctr, DNA Lab, London, England Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy

Yau, Shu
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas NHS Fdn Trust, Genet Ctr, DNA Lab, London, England Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy

Abbs, Stephen
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas NHS Fdn Trust, Genet Ctr, DNA Lab, London, England Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy

Muntoni, Francesco
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机构:
UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy

Merlini, Luciano
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h-index: 0
机构:
Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy
St Anna Hosp, UO Genet Med, Brescia, Italy Univ Ferrara, Sez Genet Med, I-44100 Ferrara, Italy

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[2]
Molecular diagnosis of Duchenne/Becker muscular dystrophy: Enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization
[J].
del Gaudio, Daniela
;
Yang, Yaping
;
Boggs, Barbara A.
;
Schmitt, Eric S.
;
Lee, Jennifer A.
;
Sahoo, Trilochan
;
Pham, Hoang T.
;
Wiszniewska, Joanna
;
Chinault, A. Craig
;
Beaudet, Arthur L.
;
Eng, Christine M.
.
HUMAN MUTATION,
2008, 29 (09)
:1100-1107

del Gaudio, Daniela
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Yang, Yaping
论文数: 0 引用数: 0
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机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Boggs, Barbara A.
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机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Schmitt, Eric S.
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机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Lee, Jennifer A.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Sahoo, Trilochan
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Pham, Hoang T.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Wiszniewska, Joanna
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Chinault, A. Craig
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Beaudet, Arthur L.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

Eng, Christine M.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[3]
Exon array CGH: Detection of copy-number changes at the resolution of individual exons in the human genome
[J].
Dhami, P
;
Coffey, AJ
;
Abbs, S
;
Vermeesch, JR
;
Dumanski, JP
;
Woodward, KJ
;
Andrews, RM
;
Langford, C
;
Vetrie, D
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2005, 76 (05)
:750-762

Dhami, P
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Sanger Inst, Microarray Facil, Hinxton CB10 1SA, Cambs, England

Coffey, AJ
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Sanger Inst, Microarray Facil, Hinxton CB10 1SA, Cambs, England

Abbs, S
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Sanger Inst, Microarray Facil, Hinxton CB10 1SA, Cambs, England

Vermeesch, JR
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Sanger Inst, Microarray Facil, Hinxton CB10 1SA, Cambs, England

Dumanski, JP
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Sanger Inst, Microarray Facil, Hinxton CB10 1SA, Cambs, England

Woodward, KJ
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Sanger Inst, Microarray Facil, Hinxton CB10 1SA, Cambs, England

Andrews, RM
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Sanger Inst, Microarray Facil, Hinxton CB10 1SA, Cambs, England

Langford, C
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Sanger Inst, Microarray Facil, Hinxton CB10 1SA, Cambs, England

Vetrie, D
论文数: 0 引用数: 0
h-index: 0
机构: Wellcome Trust Sanger Inst, Microarray Facil, Hinxton CB10 1SA, Cambs, England
[4]
Microarray-based mutation detection in the dystrophin gene
[J].
Hegde, Madhuri R.
;
Chin, Ephrem L. H.
;
Mulle, Jennifer G.
;
Okou, David T.
;
Warren, Stephen I.
;
Zwick, Michael E.
.
HUMAN MUTATION,
2008, 29 (09)
:1091-1099

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Chin, Ephrem L. H.
论文数: 0 引用数: 0
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机构:
Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA

Mulle, Jennifer G.
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA

Okou, David T.
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA

Warren, Stephen I.
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA

Zwick, Michael E.
论文数: 0 引用数: 0
h-index: 0
机构:
Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA 30322 USA
[5]
Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule
[J].
Kesari, Akanchha
;
Pirra, Laura N.
;
Bremadesam, Lakshmi
;
McIntyre, Orinthal
;
Gordon, Erynn
;
Dubrovsky, Alberto L.
;
Viswanathan, V.
;
Hoffman, Eric P.
.
HUMAN MUTATION,
2008, 29 (05)
:728-737

Kesari, Akanchha
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Natl Med Ctr, Res Ctr Genet Med, Washington, DC 20010 USA Childrens Natl Med Ctr, Res Ctr Genet Med, Washington, DC 20010 USA

Pirra, Laura N.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Natl Med Ctr, Res Ctr Genet Med, Washington, DC 20010 USA
French Hosp, Alfredo Thomson Neurol Fdn, Buenos Aires, DF, Argentina Childrens Natl Med Ctr, Res Ctr Genet Med, Washington, DC 20010 USA

Bremadesam, Lakshmi
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Natl Med Ctr, Res Ctr Genet Med, Washington, DC 20010 USA
Dr Rangarajan Mem Hosp, Sundaram Med Fdn, Madras, Tamil Nadu, India Childrens Natl Med Ctr, Res Ctr Genet Med, Washington, DC 20010 USA

McIntyre, Orinthal
论文数: 0 引用数: 0
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机构:
Childrens Natl Med Ctr, Res Ctr Genet Med, Washington, DC 20010 USA Childrens Natl Med Ctr, Res Ctr Genet Med, Washington, DC 20010 USA

Gordon, Erynn
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机构:
Childrens Natl Med Ctr, Res Ctr Genet Med, Washington, DC 20010 USA Childrens Natl Med Ctr, Res Ctr Genet Med, Washington, DC 20010 USA

Dubrovsky, Alberto L.
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机构:
French Hosp, Alfredo Thomson Neurol Fdn, Buenos Aires, DF, Argentina Childrens Natl Med Ctr, Res Ctr Genet Med, Washington, DC 20010 USA

Viswanathan, V.
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机构: Childrens Natl Med Ctr, Res Ctr Genet Med, Washington, DC 20010 USA

Hoffman, Eric P.
论文数: 0 引用数: 0
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机构:
Childrens Natl Med Ctr, Res Ctr Genet Med, Washington, DC 20010 USA Childrens Natl Med Ctr, Res Ctr Genet Med, Washington, DC 20010 USA
[6]
An Explanation for the Phenotypic Differences between Patients Bearing Partial Deletions of the DMD Locus
[J].
Monaco, Anthony P.
;
Bertelson, Corlee J.
;
Liechti-Gallati, Sabina
;
Moser, Hans
;
Kunkel, Louis M.
.
GENOMICS,
1988, 2 (01)
:90-95

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Bertelson, Corlee J.
论文数: 0 引用数: 0
h-index: 0
机构:
Childrens Hosp, Div Genet, Mental Retardat Program, Boston, MA 02115 USA
Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA Childrens Hosp, Div Genet, Mental Retardat Program, Boston, MA 02115 USA

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[7]
Dystrophin and mutations: one gene, several proteins, multiple phenotypes
[J].
Muntoni, F
;
Torelli, S
;
Ferlini, A
.
LANCET NEUROLOGY,
2003, 2 (12)
:731-740

Muntoni, F
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机构: Univ London Imperial Coll Sci Technol & Med, Dubowitz Neuromuscular Unit, Dept Paediat, London W12 0NN, England

Torelli, S
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机构: Univ London Imperial Coll Sci Technol & Med, Dubowitz Neuromuscular Unit, Dept Paediat, London W12 0NN, England

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[8]
Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method
[J].
Saillour, Yoann
;
Cossee, Mireille
;
Leturcq, France
;
Vasson, Aurelie
;
Beugnet, Caroline
;
Poirier, Karine
;
Commere, Virginie
;
Sublemontier, Sebastien
;
Viel, Marion
;
Letourneur, Franck
;
Barbot, Jean Claude
;
Deburgrave, Nathalie
;
Chelly, Jamel
;
Bienvenu, Thierry
.
HUMAN MUTATION,
2008, 29 (09)
:1083-1090

Saillour, Yoann
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Inst Cochin, Lab Genet Maladies Neurodev, CHU Cochin, F-75014 Paris, France
INSERM, U567, Paris, France Univ Paris 05, Inst Cochin, Lab Genet Maladies Neurodev, CHU Cochin, F-75014 Paris, France

Cossee, Mireille
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Inst Cochin, Lab Genet Maladies Neurodev, CHU Cochin, F-75014 Paris, France
INSERM, U567, Paris, France
Hop Cochin, AP HP, Lab Biochem & Genet Mol, F-75674 Paris, France Univ Paris 05, Inst Cochin, Lab Genet Maladies Neurodev, CHU Cochin, F-75014 Paris, France

Leturcq, France
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Inst Cochin, Lab Genet Maladies Neurodev, CHU Cochin, F-75014 Paris, France
INSERM, U567, Paris, France
Hop Cochin, AP HP, Lab Biochem & Genet Mol, F-75674 Paris, France Univ Paris 05, Inst Cochin, Lab Genet Maladies Neurodev, CHU Cochin, F-75014 Paris, France

Vasson, Aurelie
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h-index: 0
机构:
Hop Cochin, AP HP, Lab Biochem & Genet Mol, F-75674 Paris, France Univ Paris 05, Inst Cochin, Lab Genet Maladies Neurodev, CHU Cochin, F-75014 Paris, France

Beugnet, Caroline
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机构:
Hop Cochin, AP HP, Lab Biochem & Genet Mol, F-75674 Paris, France Univ Paris 05, Inst Cochin, Lab Genet Maladies Neurodev, CHU Cochin, F-75014 Paris, France

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Commere, Virginie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Cochin, AP HP, Lab Biochem & Genet Mol, F-75674 Paris, France Univ Paris 05, Inst Cochin, Lab Genet Maladies Neurodev, CHU Cochin, F-75014 Paris, France

Sublemontier, Sebastien
论文数: 0 引用数: 0
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机构:
Hop Cochin, AP HP, Lab Biochem & Genet Mol, F-75674 Paris, France Univ Paris 05, Inst Cochin, Lab Genet Maladies Neurodev, CHU Cochin, F-75014 Paris, France

Viel, Marion
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机构:
Hop Cochin, AP HP, Lab Biochem & Genet Mol, F-75674 Paris, France Univ Paris 05, Inst Cochin, Lab Genet Maladies Neurodev, CHU Cochin, F-75014 Paris, France

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Barbot, Jean Claude
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机构:
Hop Cochin, AP HP, Lab Biochem & Genet Mol, F-75674 Paris, France Univ Paris 05, Inst Cochin, Lab Genet Maladies Neurodev, CHU Cochin, F-75014 Paris, France

Deburgrave, Nathalie
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Cochin, AP HP, Lab Biochem & Genet Mol, F-75674 Paris, France Univ Paris 05, Inst Cochin, Lab Genet Maladies Neurodev, CHU Cochin, F-75014 Paris, France

Chelly, Jamel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Inst Cochin, Lab Genet Maladies Neurodev, CHU Cochin, F-75014 Paris, France
INSERM, U567, Paris, France
Hop Cochin, AP HP, Lab Biochem & Genet Mol, F-75674 Paris, France Univ Paris 05, Inst Cochin, Lab Genet Maladies Neurodev, CHU Cochin, F-75014 Paris, France

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