共 15 条
[1]
The tumor-necrosis-factor receptor-associated periodic syndrome:: New mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers
[J].
Aksentijevich, I
;
Galon, J
;
Soares, M
;
Mansfield, E
;
Hull, K
;
Oh, HH
;
Goldbach-Mansky, R
;
Dean, J
;
Athreya, B
;
Reginato, AJ
;
Henrickson, M
;
Pons-Estel, B
;
O'Shea, JJ
;
Kastner, DL
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2001, 69 (02)
:301-314

Aksentijevich, I
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Genet Sect, Arthrit & Rheumatism Branch, NIH, Bethesda, MD 20892 USA

Galon, J
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Genet Sect, Arthrit & Rheumatism Branch, NIH, Bethesda, MD 20892 USA

Soares, M
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Genet Sect, Arthrit & Rheumatism Branch, NIH, Bethesda, MD 20892 USA

Mansfield, E
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Genet Sect, Arthrit & Rheumatism Branch, NIH, Bethesda, MD 20892 USA

Hull, K
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Genet Sect, Arthrit & Rheumatism Branch, NIH, Bethesda, MD 20892 USA

Oh, HH
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Genet Sect, Arthrit & Rheumatism Branch, NIH, Bethesda, MD 20892 USA

Goldbach-Mansky, R
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Genet Sect, Arthrit & Rheumatism Branch, NIH, Bethesda, MD 20892 USA

Dean, J
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Genet Sect, Arthrit & Rheumatism Branch, NIH, Bethesda, MD 20892 USA

Athreya, B
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Genet Sect, Arthrit & Rheumatism Branch, NIH, Bethesda, MD 20892 USA

Reginato, AJ
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Genet Sect, Arthrit & Rheumatism Branch, NIH, Bethesda, MD 20892 USA

Henrickson, M
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Genet Sect, Arthrit & Rheumatism Branch, NIH, Bethesda, MD 20892 USA

Pons-Estel, B
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Genet Sect, Arthrit & Rheumatism Branch, NIH, Bethesda, MD 20892 USA

O'Shea, JJ
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Genet Sect, Arthrit & Rheumatism Branch, NIH, Bethesda, MD 20892 USA

Kastner, DL
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Genet Sect, Arthrit & Rheumatism Branch, NIH, Bethesda, MD 20892 USA
[2]
Aksentijevich I, 1997, CELL, V90, P797
[3]
Bodar EJ, 2005, NETH J MED, V63, P260
[4]
TNFRSF1A mutations and autoinflammatory syndromes
[J].
Galon, J
;
Aksentijevich, I
;
McDermott, MF
;
O'Shea, JJ
;
Kastner, DL
.
CURRENT OPINION IN IMMUNOLOGY,
2000, 12 (04)
:479-486

Galon, J
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Arthrit & Rheumatism Branch, Bethesda, MD 20892 USA

Aksentijevich, I
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Arthrit & Rheumatism Branch, Bethesda, MD 20892 USA

McDermott, MF
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Arthrit & Rheumatism Branch, Bethesda, MD 20892 USA

O'Shea, JJ
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Arthrit & Rheumatism Branch, Bethesda, MD 20892 USA

Kastner, DL
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Arthrit & Rheumatism Branch, Bethesda, MD 20892 USA
[5]
Clinical and genetic aspects of the hereditary periodic fever syndromes
[J].
Grateau, G
.
RHEUMATOLOGY,
2004, 43 (04)
:410-415

Grateau, G
论文数: 0 引用数: 0
h-index: 0
机构: Hop Hotel Dieu, Assistance Publ Hop Paris, Serv Med Interne, F-75181 Paris 04, France
[6]
Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra
[J].
Hawkins, PN
;
Lachmann, HJ
;
Aganna, E
;
McDermott, MF
.
ARTHRITIS AND RHEUMATISM,
2004, 50 (02)
:607-612

Hawkins, PN
论文数: 0 引用数: 0
h-index: 0
机构: UCL Royal Free & Univ Coll Med Sch, Ctr Amyloidosis & Acute Phase Prot, Dept Med, Royal Free Hosp, London NW3 2PF, England

Lachmann, HJ
论文数: 0 引用数: 0
h-index: 0
机构: UCL Royal Free & Univ Coll Med Sch, Ctr Amyloidosis & Acute Phase Prot, Dept Med, Royal Free Hosp, London NW3 2PF, England

Aganna, E
论文数: 0 引用数: 0
h-index: 0
机构: UCL Royal Free & Univ Coll Med Sch, Ctr Amyloidosis & Acute Phase Prot, Dept Med, Royal Free Hosp, London NW3 2PF, England

McDermott, MF
论文数: 0 引用数: 0
h-index: 0
机构: UCL Royal Free & Univ Coll Med Sch, Ctr Amyloidosis & Acute Phase Prot, Dept Med, Royal Free Hosp, London NW3 2PF, England
[7]
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
[J].
Houten, SM
;
Kuis, W
;
Duran, M
;
de Koning, TJ
;
van Royen-Kerkhof, A
;
Romeijn, GJ
;
Frenkel, J
;
Dorland, L
;
de Barse, MMJ
;
Huijbers, WAR
;
Rijkers, GT
;
Waterham, HR
;
Wanders, RJA
;
Poll-The, BT
.
NATURE GENETICS,
1999, 22 (02)
:175-177

Houten, SM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Childrens Hosp Het Wilhelmina Kinderziekenhuis, Dept Metab Disorders, Utrecht, Netherlands

Kuis, W
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Childrens Hosp Het Wilhelmina Kinderziekenhuis, Dept Metab Disorders, Utrecht, Netherlands

Duran, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Childrens Hosp Het Wilhelmina Kinderziekenhuis, Dept Metab Disorders, Utrecht, Netherlands

de Koning, TJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Childrens Hosp Het Wilhelmina Kinderziekenhuis, Dept Metab Disorders, Utrecht, Netherlands

van Royen-Kerkhof, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Childrens Hosp Het Wilhelmina Kinderziekenhuis, Dept Metab Disorders, Utrecht, Netherlands

Romeijn, GJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Childrens Hosp Het Wilhelmina Kinderziekenhuis, Dept Metab Disorders, Utrecht, Netherlands

Frenkel, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Childrens Hosp Het Wilhelmina Kinderziekenhuis, Dept Metab Disorders, Utrecht, Netherlands

Dorland, L
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Childrens Hosp Het Wilhelmina Kinderziekenhuis, Dept Metab Disorders, Utrecht, Netherlands

de Barse, MMJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Childrens Hosp Het Wilhelmina Kinderziekenhuis, Dept Metab Disorders, Utrecht, Netherlands

Huijbers, WAR
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Childrens Hosp Het Wilhelmina Kinderziekenhuis, Dept Metab Disorders, Utrecht, Netherlands

Rijkers, GT
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Childrens Hosp Het Wilhelmina Kinderziekenhuis, Dept Metab Disorders, Utrecht, Netherlands

Waterham, HR
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Utrecht, Childrens Hosp Het Wilhelmina Kinderziekenhuis, Dept Metab Disorders, Utrecht, Netherlands Univ Utrecht, Childrens Hosp Het Wilhelmina Kinderziekenhuis, Dept Metab Disorders, Utrecht, Netherlands

Wanders, RJA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Childrens Hosp Het Wilhelmina Kinderziekenhuis, Dept Metab Disorders, Utrecht, Netherlands

Poll-The, BT
论文数: 0 引用数: 0
h-index: 0
机构: Univ Utrecht, Childrens Hosp Het Wilhelmina Kinderziekenhuis, Dept Metab Disorders, Utrecht, Netherlands
[8]
The TNF receptor-associate periodic syndrome (TRAPS) - Emerging concepts of an autoinflammatory disorder
[J].
Hull, KM
;
Drewe, E
;
Aksentijevich, I
;
Singh, HK
;
Wong, K
;
McDermott, EM
;
Dean, J
;
Powell, RJ
;
Kastner, DL
.
MEDICINE,
2002, 81 (05)
:349-368

Hull, KM
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Off Clin Director, NIH, Bethesda, MD 20892 USA

Drewe, E
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Off Clin Director, NIH, Bethesda, MD 20892 USA

Aksentijevich, I
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Off Clin Director, NIH, Bethesda, MD 20892 USA

Singh, HK
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Off Clin Director, NIH, Bethesda, MD 20892 USA

Wong, K
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Off Clin Director, NIH, Bethesda, MD 20892 USA

McDermott, EM
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Off Clin Director, NIH, Bethesda, MD 20892 USA

Dean, J
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Off Clin Director, NIH, Bethesda, MD 20892 USA

Powell, RJ
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Off Clin Director, NIH, Bethesda, MD 20892 USA

Kastner, DL
论文数: 0 引用数: 0
h-index: 0
机构: NIAMSD, Off Clin Director, NIH, Bethesda, MD 20892 USA
[9]
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
[J].
McDermott, MF
;
Aksentijevich, I
;
Galon, J
;
McDermott, EM
;
Ogunkolade, BW
;
Centola, M
;
Mansfield, E
;
Gadina, M
;
Karenko, L
;
Pettersson, T
;
McCarthy, J
;
Frucht, DM
;
Aringer, M
;
Torosyan, Y
;
Teppo, AM
;
Wilson, M
;
Karaarslan, HM
;
Wan, Y
;
Todd, I
;
Wood, G
;
Schlimgen, R
;
Kumarajeewa, TR
;
Cooper, SM
;
Vella, JP
;
Amos, CI
;
Mulley, J
;
Quane, KA
;
Molloy, MG
;
Ranki, A
;
Powell, RJ
;
Hitman, GA
;
O'Shea, JJ
;
Kastner, DL
.
CELL,
1999, 97 (01)
:133-144

McDermott, MF
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Aksentijevich, I
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Galon, J
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

McDermott, EM
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Ogunkolade, BW
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Centola, M
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Mansfield, E
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Gadina, M
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Karenko, L
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Pettersson, T
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

McCarthy, J
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Frucht, DM
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Aringer, M
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Torosyan, Y
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Teppo, AM
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Wilson, M
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Karaarslan, HM
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Wan, Y
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Todd, I
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Wood, G
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Schlimgen, R
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Kumarajeewa, TR
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Cooper, SM
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Vella, JP
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Amos, CI
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Mulley, J
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Quane, KA
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Molloy, MG
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Ranki, A
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Powell, RJ
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Hitman, GA
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

O'Shea, JJ
论文数: 0 引用数: 0
h-index: 0
机构: St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England

Kastner, DL
论文数: 0 引用数: 0
h-index: 0
机构:
St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England St Bartholomews & Royal London Hosp Sch Med & Den, Med Unit, London E1 1BB, England
[10]
Familial Mediterranean Fever:: association of elevated IgD plasma levels with specific MEFV mutations
[J].
Medlej-Hashim, M
;
Petit, I
;
Adib, S
;
Chouery, E
;
Salem, N
;
Delague, V
;
Rawashdeh, M
;
Mansour, I
;
Lefranc, G
;
Naman, R
;
Loiselet, J
;
Lecron, JC
;
Serre, JL
;
Mégarbané, A
.
EUROPEAN JOURNAL OF HUMAN GENETICS,
2001, 9 (11)
:849-854

Medlej-Hashim, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ St Joseph, Fac Med, Unite Genet Med, Beirut, Lebanon

Petit, I
论文数: 0 引用数: 0
h-index: 0
机构: Univ St Joseph, Fac Med, Unite Genet Med, Beirut, Lebanon

Adib, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ St Joseph, Fac Med, Unite Genet Med, Beirut, Lebanon

Chouery, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ St Joseph, Fac Med, Unite Genet Med, Beirut, Lebanon

Salem, N
论文数: 0 引用数: 0
h-index: 0
机构: Univ St Joseph, Fac Med, Unite Genet Med, Beirut, Lebanon

Delague, V
论文数: 0 引用数: 0
h-index: 0
机构: Univ St Joseph, Fac Med, Unite Genet Med, Beirut, Lebanon

论文数: 引用数:
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机构:

Mansour, I
论文数: 0 引用数: 0
h-index: 0
机构: Univ St Joseph, Fac Med, Unite Genet Med, Beirut, Lebanon

Lefranc, G
论文数: 0 引用数: 0
h-index: 0
机构: Univ St Joseph, Fac Med, Unite Genet Med, Beirut, Lebanon

Naman, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ St Joseph, Fac Med, Unite Genet Med, Beirut, Lebanon

Loiselet, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ St Joseph, Fac Med, Unite Genet Med, Beirut, Lebanon

论文数: 引用数:
h-index:
机构:

Serre, JL
论文数: 0 引用数: 0
h-index: 0
机构: Univ St Joseph, Fac Med, Unite Genet Med, Beirut, Lebanon

Mégarbané, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ St Joseph, Fac Med, Unite Genet Med, Beirut, Lebanon
