共 5 条
[1]
Genotype-phenotype correlations in von Hippel-Lindau disease
[J].
Ong, Kai Ren
;
Woodward, Emma R.
;
Killick, Pip
;
Lim, Caron
;
Macdonald, Fiona
;
Maher, Eamorm R.
.
HUMAN MUTATION,
2007, 28 (02)
:143-149

Ong, Kai Ren
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Inst Biomed Res, Canc Res UK Renal Mol Oncol Grp, Birmingham B15 2TT, W Midlands, England

Woodward, Emma R.
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Inst Biomed Res, Canc Res UK Renal Mol Oncol Grp, Birmingham B15 2TT, W Midlands, England

Killick, Pip
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Inst Biomed Res, Canc Res UK Renal Mol Oncol Grp, Birmingham B15 2TT, W Midlands, England

Lim, Caron
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Inst Biomed Res, Canc Res UK Renal Mol Oncol Grp, Birmingham B15 2TT, W Midlands, England

Macdonald, Fiona
论文数: 0 引用数: 0
h-index: 0
机构: Univ Birmingham, Sect Med & Mol Genet, Inst Biomed Res, Canc Res UK Renal Mol Oncol Grp, Birmingham B15 2TT, W Midlands, England

Maher, Eamorm R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Birmingham, Sect Med & Mol Genet, Inst Biomed Res, Canc Res UK Renal Mol Oncol Grp, Birmingham B15 2TT, W Midlands, England Univ Birmingham, Sect Med & Mol Genet, Inst Biomed Res, Canc Res UK Renal Mol Oncol Grp, Birmingham B15 2TT, W Midlands, England
[2]
NF1 Microdeletions in Neurofibromatosis Type 1: From Genotype to Phenotype
[J].
Pasmant, Eric
;
Sabbagh, Audrey
;
Spurlock, Gill
;
Laurendeau, Ingrid
;
Grillo, Elisa
;
Hamel, Marie-Jose
;
Martin, Ludovic
;
Barbarot, Sebastien
;
Leheup, Bruno
;
Rodriguez, Diana
;
Lacombe, Didier
;
Dollfus, Helene
;
Pasquier, Laurent
;
Isidor, Bertrand
;
Ferkal, Salah
;
Soulier, Jean
;
Sanson, Marc
;
Dieux-Coeslier, Anne
;
Bieche, Ivan
;
Parfait, Beatrice
;
Vidaud, Michel
;
Wolkenstein, Pierre
;
Upadhyaya, Meena
;
Vidaud, Dominique
.
HUMAN MUTATION,
2010, 31 (06)
:E1506-E1518

Pasmant, Eric
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France
Hop Beaujon, Serv Biochim & Genet Mol, AP HP, F-92110 Clichy, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Sabbagh, Audrey
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France
Hop Beaujon, Serv Biochim & Genet Mol, AP HP, F-92110 Clichy, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Spurlock, Gill
论文数: 0 引用数: 0
h-index: 0
机构:
Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Laurendeau, Ingrid
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Grillo, Elisa
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Hamel, Marie-Jose
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Beaujon, Serv Biochim & Genet Mol, AP HP, F-92110 Clichy, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Martin, Ludovic
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Angers, Serv Dermatol, CHU Angers, F-49933 Angers 9, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Barbarot, Sebastien
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Nantes, Serv Dermatol, Hotel Dieu, F-44093 Nantes, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Leheup, Bruno
论文数: 0 引用数: 0
h-index: 0
机构:
Nancy Univ Henri Poincare, Serv Med Infantile & Genet Clin 3, Fac Med, Hop Enfants CHU Nancy, Vandoeuvre Les Nancy, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Rodriguez, Diana
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Armand Trousseau, AP HP, Serv Neuropediat, Paris, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

论文数: 引用数:
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机构:

Dollfus, Helene
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Strasbourg, Med Genet Lab, Equipe Avenir Inserm, Fac Med Strasbourg,EA 3949, F-67000 Strasbourg, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Pasquier, Laurent
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Rennes 1, CNRS, UMR6061, IFR140, Rennes, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Isidor, Bertrand
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Nantes, Gen Med Serv, Ctr Hosp, F-44000 Nantes, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Ferkal, Salah
论文数: 0 引用数: 0
h-index: 0
机构:
Grp Hosp Henri Mondor Albert Chenevier, INSERM, Ctr Invest Clin 006, AP HP, F-94000 Creteil, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Soulier, Jean
论文数: 0 引用数: 0
h-index: 0
机构:
Hop St Louis, INSERM, U944, Paris, France
Univ Paris Diderot, Plateforme Genom Inst Univ Hematol IUH, Hop St Louis, Paris, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Sanson, Marc
论文数: 0 引用数: 0
h-index: 0
机构:
Hop La Pitie Salpetriere, Serv Neurol Mazarin, INSERM, UMR 975, F-75013 Paris, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Dieux-Coeslier, Anne
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Jeanne Flandre, Serv Genet Clin, F-59000 Lille, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Bieche, Ivan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France
Hop Beaujon, Serv Biochim & Genet Mol, AP HP, F-92110 Clichy, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Parfait, Beatrice
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France
Hop Beaujon, Serv Biochim & Genet Mol, AP HP, F-92110 Clichy, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Vidaud, Michel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France
Hop Beaujon, Serv Biochim & Genet Mol, AP HP, F-92110 Clichy, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Wolkenstein, Pierre
论文数: 0 引用数: 0
h-index: 0
机构:
AP HP, Dept Dermatol, F-94000 Creteil, France
Univ Paris 12, Hop Henri Mondor, F-94000 Creteil, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Upadhyaya, Meena
论文数: 0 引用数: 0
h-index: 0
机构:
Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France

Vidaud, Dominique
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France
Hop Beaujon, Serv Biochim & Genet Mol, AP HP, F-92110 Clichy, France Univ Paris 05, Fac Sci Pharmaceut & Biol, INSERM, UMR745, F-75006 Paris, France
[3]
The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features
[J].
Ruggieri, M.
;
Polizzi, A.
;
Spalice, A.
;
Salpietro, V.
;
Caltabiano, R.
;
D'Orazi, V.
;
Pavone, P.
;
Pirrone, C.
;
Magro, G.
;
Platania, N.
;
Cavallaro, S.
;
Muglia, M.
;
Nicita, F.
.
CLINICAL GENETICS,
2015, 87 (05)
:401-410

论文数: 引用数:
h-index:
机构:

Polizzi, A.
论文数: 0 引用数: 0
h-index: 0
机构:
CNR, Inst Neurol Sci, Catania, Italy
Ist Super Sanita, Natl Ctr Rare Dis, I-00161 Rome, Italy Univ Catania, Chair Paediat, Dept Educ Sci, I-95124 Catania, Italy

Spalice, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Roma La Sapienza, Dept Paediat, Child Neurol Div, I-00185 Rome, Italy Univ Catania, Chair Paediat, Dept Educ Sci, I-95124 Catania, Italy

论文数: 引用数:
h-index:
机构:

Caltabiano, R.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Catania, Sect Anat Pathol, Dept G Ingrassia, I-95124 Catania, Italy Univ Catania, Chair Paediat, Dept Educ Sci, I-95124 Catania, Italy

D'Orazi, V.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Roma La Sapienza, Dept Surg Sci, I-00185 Rome, Italy
Fabia Mater Hosp, Unit Microsurg & Hand Surg, Rome, Italy Univ Catania, Chair Paediat, Dept Educ Sci, I-95124 Catania, Italy

Pavone, P.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Policlin Vittorio Emanuele, Unit Paediat & Paediat Emergency, Catania, Italy Univ Catania, Chair Paediat, Dept Educ Sci, I-95124 Catania, Italy

Pirrone, C.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Catania, Dept Educ Sci, Branches Psychol, I-95124 Catania, Italy Univ Catania, Chair Paediat, Dept Educ Sci, I-95124 Catania, Italy

Magro, G.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Catania, Sect Anat Pathol, Dept G Ingrassia, I-95124 Catania, Italy Univ Catania, Chair Paediat, Dept Educ Sci, I-95124 Catania, Italy

Platania, N.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Catania, Dept Neurosci G Ingrassia, Inst Neurosurg, I-95124 Catania, Italy Univ Catania, Chair Paediat, Dept Educ Sci, I-95124 Catania, Italy

Cavallaro, S.
论文数: 0 引用数: 0
h-index: 0
机构:
CNR, Inst Neurol Sci, Catania, Italy Univ Catania, Chair Paediat, Dept Educ Sci, I-95124 Catania, Italy

Muglia, M.
论文数: 0 引用数: 0
h-index: 0
机构:
CNR, Inst Neurol Sci, Cosenza, Italy Univ Catania, Chair Paediat, Dept Educ Sci, I-95124 Catania, Italy

Nicita, F.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Roma La Sapienza, Dept Paediat, Child Neurol Div, I-00185 Rome, Italy Univ Catania, Chair Paediat, Dept Educ Sci, I-95124 Catania, Italy
[4]
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT):: evidence of a clinically significant NF1 genotype-phenotype correlation
[J].
Upadhyaya, M.
;
Huson, S. M.
;
Davies, M.
;
Thomas, N.
;
Chuzhanova, N.
;
Giovannini, S.
;
Evans, D. G.
;
Howard, E.
;
Kerr, B.
;
Griffiths, S.
;
Consoli, C.
;
Side, L.
;
Adams, D.
;
Pierpont, M.
;
Hachen, R.
;
Barnicoat, A.
;
Li, H.
;
Wallace, P.
;
Van Biervliet, J. P.
;
Stevenson, D.
;
Viskochil, D.
;
Baralle, D.
;
Haan, E.
;
Riccardi, V.
;
Turnpenny, P.
;
Lazaro, C.
;
Messiaen, L.
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2007, 80 (01)
:140-151

Upadhyaya, M.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Huson, S. M.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Davies, M.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Thomas, N.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Chuzhanova, N.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Giovannini, S.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Evans, D. G.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Howard, E.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Kerr, B.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Griffiths, S.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Consoli, C.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Side, L.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Adams, D.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Pierpont, M.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Hachen, R.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Barnicoat, A.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Li, H.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Wallace, P.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Van Biervliet, J. P.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Stevenson, D.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Viskochil, D.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Baralle, D.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Haan, E.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Riccardi, V.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Turnpenny, P.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Lazaro, C.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Messiaen, L.
论文数: 0 引用数: 0
h-index: 0
机构: Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales
[5]
The spectrum of somatic and germline NF1 mutations in NF1 patients with spinal neurofibromas
[J].
Upadhyaya, Meena
;
Spurlock, Gill
;
Kluwe, Lan
;
Chuzhanova, Nadia
;
Bennett, Emma
;
Thomas, Nick
;
Guha, Abhijit
;
Mautner, Victor
.
NEUROGENETICS,
2009, 10 (03)
:251-263

Upadhyaya, Meena
论文数: 0 引用数: 0
h-index: 0
机构:
Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Spurlock, Gill
论文数: 0 引用数: 0
h-index: 0
机构:
Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Kluwe, Lan
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Eppendorf, Lab Tumor Biol & Dev Disorders, Dept Maxillofacial Surg, D-20246 Hamburg, Germany Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

论文数: 引用数:
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机构:

Bennett, Emma
论文数: 0 引用数: 0
h-index: 0
机构:
Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Thomas, Nick
论文数: 0 引用数: 0
h-index: 0
机构:
Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Guha, Abhijit
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toronto, Hosp Sick Children, Western Hosp, Toronto, ON M5G 1X8, Canada Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales

Mautner, Victor
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Hosp Eppendorf, Lab Tumor Biol & Dev Disorders, Dept Maxillofacial Surg, D-20246 Hamburg, Germany Cardiff Univ, Inst Med Genet, Cardiff CF14 4XN, S Glam, Wales