共 19 条
Molecular Cytogenetic Characterization of an 8p22-8p23.2 Duplication Derived From a Maternal Intrachromosomal Insertion in a Child With Congenital Heart Malformation, Delayed Puberty, and Learning Disabilities
被引:7
作者:

Basinko, Audrey
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bretagne Occidentale, Fac Med & Sci Sante, Lab Histol Embryol & Cytogenet, F-29238 Brest 3, France
CHU Brest, Hop Morvan, Serv Cytogenet Cytol & Biol Reprod, F-29285 Brest, France Univ Bretagne Occidentale, Fac Med & Sci Sante, Lab Histol Embryol & Cytogenet, F-29238 Brest 3, France

Douet-Guilbert, Nathalie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bretagne Occidentale, Fac Med & Sci Sante, Lab Histol Embryol & Cytogenet, F-29238 Brest 3, France
CHU Brest, Hop Morvan, Serv Cytogenet Cytol & Biol Reprod, F-29285 Brest, France Univ Bretagne Occidentale, Fac Med & Sci Sante, Lab Histol Embryol & Cytogenet, F-29238 Brest 3, France

Le Bris, Marie Josee
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Brest, Hop Morvan, Serv Cytogenet Cytol & Biol Reprod, F-29285 Brest, France Univ Bretagne Occidentale, Fac Med & Sci Sante, Lab Histol Embryol & Cytogenet, F-29238 Brest 3, France

Parent, Philippe
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Brest, Hop Morvan, Dept Pediat & Genet Med, F-29285 Brest, France Univ Bretagne Occidentale, Fac Med & Sci Sante, Lab Histol Embryol & Cytogenet, F-29238 Brest 3, France

Ansquer, Helene
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h-index: 0
机构:
CHU Brest, Hop Morvan, Dept Pediat & Genet Med, F-29285 Brest, France Univ Bretagne Occidentale, Fac Med & Sci Sante, Lab Histol Embryol & Cytogenet, F-29238 Brest 3, France

Morel, Frederic
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bretagne Occidentale, Fac Med & Sci Sante, Lab Histol Embryol & Cytogenet, F-29238 Brest 3, France
CHU Brest, Hop Morvan, Serv Cytogenet Cytol & Biol Reprod, F-29285 Brest, France Univ Bretagne Occidentale, Fac Med & Sci Sante, Lab Histol Embryol & Cytogenet, F-29238 Brest 3, France

De Braekeleer, Marc
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Bretagne Occidentale, Fac Med & Sci Sante, Lab Histol Embryol & Cytogenet, F-29238 Brest 3, France
CHU Brest, Hop Morvan, Serv Cytogenet Cytol & Biol Reprod, F-29285 Brest, France Univ Bretagne Occidentale, Fac Med & Sci Sante, Lab Histol Embryol & Cytogenet, F-29238 Brest 3, France
机构:
[1] Univ Bretagne Occidentale, Fac Med & Sci Sante, Lab Histol Embryol & Cytogenet, F-29238 Brest 3, France
[2] CHU Brest, Hop Morvan, Serv Cytogenet Cytol & Biol Reprod, F-29285 Brest, France
[3] CHU Brest, Hop Morvan, Dept Pediat & Genet Med, F-29285 Brest, France
关键词:
D O I:
10.1002/ajmg.a.32522
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
引用
收藏
页码:2950 / 2954
页数:5
相关论文
共 19 条
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Intrachromosomal insertion mimicking a pericentric inversion: Molecular cytogenetic characterization of a three break rearrangement of chromosome 20
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Ardalan, A
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h-index: 0
机构: Grp Hosp Cochin St Vincent de Paul, Lab Cytogenet, F-75014 Paris, France

Prieur, M
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h-index: 0
机构: Grp Hosp Cochin St Vincent de Paul, Lab Cytogenet, F-75014 Paris, France

Choiset, A
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Cochin St Vincent de Paul, Lab Cytogenet, F-75014 Paris, France

Turleau, C
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h-index: 0
机构: Grp Hosp Cochin St Vincent de Paul, Lab Cytogenet, F-75014 Paris, France

Goutieres, F
论文数: 0 引用数: 0
h-index: 0
机构: Grp Hosp Cochin St Vincent de Paul, Lab Cytogenet, F-75014 Paris, France

Girard-Orgeolet, S
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h-index: 0
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Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level
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Barber, JCK
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Salisbury Dist Hosp, Wessex Reg Genet Lab, NHS Trust, Salisbury SP2 8BJ, Wilts, England Salisbury Dist Hosp, Wessex Reg Genet Lab, NHS Trust, Salisbury SP2 8BJ, Wilts, England

Maloney, V
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h-index: 0
机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, NHS Trust, Salisbury SP2 8BJ, Wilts, England

Hollox, EJ
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机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, NHS Trust, Salisbury SP2 8BJ, Wilts, England

Stuke-Sontheimer, A
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h-index: 0
机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, NHS Trust, Salisbury SP2 8BJ, Wilts, England

du Bois, G
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h-index: 0
机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, NHS Trust, Salisbury SP2 8BJ, Wilts, England

Daumiller, E
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h-index: 0
机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, NHS Trust, Salisbury SP2 8BJ, Wilts, England

Klein-Vogler, U
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h-index: 0
机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, NHS Trust, Salisbury SP2 8BJ, Wilts, England

Dufke, A
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机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, NHS Trust, Salisbury SP2 8BJ, Wilts, England

Armour, JAL
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h-index: 0
机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, NHS Trust, Salisbury SP2 8BJ, Wilts, England

Liehr, T
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机构: Salisbury Dist Hosp, Wessex Reg Genet Lab, NHS Trust, Salisbury SP2 8BJ, Wilts, England
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BARBER, JCK
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ELLIS, KH
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机构: UCL, DEPT GENET & BIOMETRY, GALTON LAB, LONDON NW1 2HE, ENGLAND

BOWLES, LV
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机构: UCL, DEPT GENET & BIOMETRY, GALTON LAB, LONDON NW1 2HE, ENGLAND

DELHANTY, JDA
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机构: UCL, DEPT GENET & BIOMETRY, GALTON LAB, LONDON NW1 2HE, ENGLAND

EDE, RF
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机构: UCL, DEPT GENET & BIOMETRY, GALTON LAB, LONDON NW1 2HE, ENGLAND

MALE, BM
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机构: UCL, DEPT GENET & BIOMETRY, GALTON LAB, LONDON NW1 2HE, ENGLAND

ECCLES, DM
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8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH
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Barber, John C. K.
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机构:
Salisbury NHS Fdn Trust, Natl Genet Reference Lab, Salisbury, Wilts, England
Salisbury NHS Fdn Trust, Wessex Regl Genet Lab, Salisbury, Wilts, England
Univ Southampton, Southampton Gen Hosp, Sch Med, Div Human Genet, Southampton, Hants, England Salisbury NHS Fdn Trust, Natl Genet Reference Lab, Salisbury, Wilts, England

Maloney, Viv K.
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Salisbury NHS Fdn Trust, Natl Genet Reference Lab, Salisbury, Wilts, England Salisbury NHS Fdn Trust, Natl Genet Reference Lab, Salisbury, Wilts, England

Huang, Shuwen
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h-index: 0
机构:
Salisbury NHS Fdn Trust, Natl Genet Reference Lab, Salisbury, Wilts, England Salisbury NHS Fdn Trust, Natl Genet Reference Lab, Salisbury, Wilts, England

Bunyan, David J.
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h-index: 0
机构:
Salisbury NHS Fdn Trust, Wessex Regl Genet Lab, Salisbury, Wilts, England Salisbury NHS Fdn Trust, Natl Genet Reference Lab, Salisbury, Wilts, England

Cresswell, Lara
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h-index: 0
机构:
Leicester Royal Infirm, Leicester Genet Ctr, Leicester, Leics, England Salisbury NHS Fdn Trust, Natl Genet Reference Lab, Salisbury, Wilts, England

Kinning, Esther
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h-index: 0
机构:
Leicester Royal Infirm, Leicester Genet Ctr, Leicester, Leics, England Salisbury NHS Fdn Trust, Natl Genet Reference Lab, Salisbury, Wilts, England

Benson, Anna
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h-index: 0
机构:
Ctr Int Life, Inst Human Genet, Newcastle Upon Tyne, Tyne & Wear, England Salisbury NHS Fdn Trust, Natl Genet Reference Lab, Salisbury, Wilts, England

Cheetham, Tim
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h-index: 0
机构:
Ctr Int Life, Inst Human Genet, Newcastle Upon Tyne, Tyne & Wear, England Salisbury NHS Fdn Trust, Natl Genet Reference Lab, Salisbury, Wilts, England

Wyllie, Jonathan
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h-index: 0
机构:
James Cook Univ Hosp, Middlesbrough, Cleveland, England Salisbury NHS Fdn Trust, Natl Genet Reference Lab, Salisbury, Wilts, England

Lynch, Sally Ann
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h-index: 0
机构:
Ctr Int Life, Inst Human Genet, Newcastle Upon Tyne, Tyne & Wear, England Salisbury NHS Fdn Trust, Natl Genet Reference Lab, Salisbury, Wilts, England

Zwolinski, Simon
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h-index: 0
机构:
Ctr Int Life, Inst Human Genet, Newcastle Upon Tyne, Tyne & Wear, England Salisbury NHS Fdn Trust, Natl Genet Reference Lab, Salisbury, Wilts, England

Prescott, Laura
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h-index: 0
机构:
St James Hosp, Regl Cytogenet Unit, Leeds LS9 7TF, W Yorkshire, England Salisbury NHS Fdn Trust, Natl Genet Reference Lab, Salisbury, Wilts, England

Crow, Yanick
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h-index: 0
机构:
St James Hosp, Leeds LS9 7TF, W Yorkshire, England Salisbury NHS Fdn Trust, Natl Genet Reference Lab, Salisbury, Wilts, England

Morgan, Rob
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h-index: 0
机构:
St James Hosp, Regl Cytogenet Unit, Leeds LS9 7TF, W Yorkshire, England Salisbury NHS Fdn Trust, Natl Genet Reference Lab, Salisbury, Wilts, England

Hobson, Emma
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St James Hosp, Leeds LS9 7TF, W Yorkshire, England Salisbury NHS Fdn Trust, Natl Genet Reference Lab, Salisbury, Wilts, England
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CHU Morvan, Serv Cytogenet Cytol & Biol Reprod, Brest, France
Univ Bretagne Occidentale, Fac Med & Sci Sante, Lab Histol Embryol & Cytogenet, F-29238 Brest 3, France CHU Morvan, Serv Cytogenet Cytol & Biol Reprod, Brest, France

Douet-Guilbert, Nathalie
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h-index: 0
机构:
CHU Morvan, Serv Cytogenet Cytol & Biol Reprod, Brest, France
Univ Bretagne Occidentale, Fac Med & Sci Sante, Lab Histol Embryol & Cytogenet, F-29238 Brest 3, France CHU Morvan, Serv Cytogenet Cytol & Biol Reprod, Brest, France

Parent, Philippe
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h-index: 0
机构:
CHU Morvan, Serv Pediat & Genet Med, Brest, France CHU Morvan, Serv Cytogenet Cytol & Biol Reprod, Brest, France

Blondin, Gilles
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CH Laennec, Serv Pediat, Quimper, France CHU Morvan, Serv Cytogenet Cytol & Biol Reprod, Brest, France

Mingam, M.
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CH Laennec, Ctr Act Med Sociale Precoce, Quimper, France CHU Morvan, Serv Cytogenet Cytol & Biol Reprod, Brest, France

Monot, Francoise
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h-index: 0
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CH Laennec, Gynecol Serv, Quimper, France CHU Morvan, Serv Cytogenet Cytol & Biol Reprod, Brest, France

Morel, Frederic
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h-index: 0
机构:
CHU Morvan, Serv Cytogenet Cytol & Biol Reprod, Brest, France
Univ Bretagne Occidentale, Fac Med & Sci Sante, Lab Histol Embryol & Cytogenet, F-29238 Brest 3, France CHU Morvan, Serv Cytogenet Cytol & Biol Reprod, Brest, France

Le Bris, Marie-Josee
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h-index: 0
机构:
CHU Morvan, Serv Cytogenet Cytol & Biol Reprod, Brest, France CHU Morvan, Serv Cytogenet Cytol & Biol Reprod, Brest, France

De Braekeleer, Marc
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h-index: 0
机构:
CHU Morvan, Serv Cytogenet Cytol & Biol Reprod, Brest, France
Univ Bretagne Occidentale, Fac Med & Sci Sante, Lab Histol Embryol & Cytogenet, F-29238 Brest 3, France CHU Morvan, Serv Cytogenet Cytol & Biol Reprod, Brest, France
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Moradkhani, K.
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Mrasek, K.
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