共 6 条
[1]
Short telomere syndrome and fibrosis
[J].
Al-Issa, K.
;
Tolle, L. B.
;
Purysko, A. S.
;
Hanouneh, I. A.
.
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE,
2016, 109 (02)
:125-126

Al-Issa, K.
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin, Dept Internal Med, Inst Internal Med, Cleveland, OH 44195 USA Cleveland Clin, Dept Internal Med, Inst Internal Med, Cleveland, OH 44195 USA

Tolle, L. B.
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin, Dept Pulm, Resp Inst, Cleveland, OH 44195 USA
Cleveland Clin, Dept Crit Care Med, Resp Inst, Cleveland, OH 44195 USA Cleveland Clin, Dept Internal Med, Inst Internal Med, Cleveland, OH 44195 USA

Purysko, A. S.
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin, Dept Diagnost Radiol, Imaging Inst, Cleveland, OH 44195 USA Cleveland Clin, Dept Internal Med, Inst Internal Med, Cleveland, OH 44195 USA

Hanouneh, I. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Cleveland Clin, Dept Gastroenterol & Hepatol, Inst Digest Dis, 9500 Euclid Ave,Mail Code A30, Cleveland, OH 44195 USA Cleveland Clin, Dept Internal Med, Inst Internal Med, Cleveland, OH 44195 USA
[2]
AlSabbagh MM, 2020, J DTSCH DERMATOL GES, V18, P943, DOI [10.1111/ddg.14268_g, 10.1111/ddg.14268]
[3]
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Hoyeraal-Hreidarsson syndrome
[J].
Benyelles, Maname
;
O'donohue, Marie-Francoise
;
Kermasson, Laetitia
;
Lainey, Elodie
;
Borie, Raphael
;
Lagresle-Peyrou, Chantal
;
Nunes, Hilario
;
Cazelles, Clarisse
;
Fourrage, Cecile
;
Ollivier, Emmanuelle
;
Marcais, Ambroise
;
Gamez, Anne-Sophie
;
Morice-Picard, Fanny
;
Caillaud, Denis
;
Pottier, Nicolas
;
Menard, Christelle
;
Ba, Ibrahima
;
Fernandes, Alicia
;
Crestani, Bruno
;
de Villartay, Jean-Pierre
;
Gleizes, Pierre-Emmanuel
;
Callebaut, Isabelle
;
Kannengiesser, Caroline
;
Revy, Patrick
.
HUMAN MOLECULAR GENETICS,
2020, 29 (06)
:907-+

Benyelles, Maname
论文数: 0 引用数: 0
h-index: 0
机构:
Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France
Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

O'donohue, Marie-Francoise
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toulouse, CBI, Lab Biol Mol Eucaryote, UPS,CNRS, Toulouse, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

Kermasson, Laetitia
论文数: 0 引用数: 0
h-index: 0
机构:
Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France
Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

Lainey, Elodie
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Inst Denis Diderot, Robert DEBRE Hosp, AP HP, Hematol Lab,Sch Med, Paris, France
Univ Inst Denis Diderot, UMR 1131, INSERM, Sch Med,Hematol, Paris, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

Borie, Raphael
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bichat Claude Bernard, AP HP, Serv Pneumol A, DHU FIRE, Paris, France
INSERM, Unite 1152, Paris, France
Univ Paris Diderot, Paris, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

Lagresle-Peyrou, Chantal
论文数: 0 引用数: 0
h-index: 0
机构:
INSERM, Lab Human Lymphohematopoiesis, Imagine Inst, UMR 1163, Paris, France
Univ Paris 05, Sorbonne Paris Cite, Paris, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

论文数: 引用数:
h-index:
机构:

Cazelles, Clarisse
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, Serv Hematol Adulte, Paris, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

Fourrage, Cecile
论文数: 0 引用数: 0
h-index: 0
机构:
Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Genom Platform, UMR 1163,INSERM, Paris, France
Imagine Inst Struct Federat Rech Necker, INSERM U1163, Genom Core Facil, Paris, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

Ollivier, Emmanuelle
论文数: 0 引用数: 0
h-index: 0
机构:
Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Genom Platform, UMR 1163,INSERM, Paris, France
Imagine Inst Struct Federat Rech Necker, INSERM U1163, Genom Core Facil, Paris, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

Marcais, Ambroise
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Necker Enfants Malad, AP HP, Serv Hematol Adultes, Paris, France
Univ Paris 05, INSERM U1151, Inst Necker Enfants Malad, Lab Oncohematol, Paris, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

Gamez, Anne-Sophie
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Montpellier, Serv Montpellier, Montpellier, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

Morice-Picard, Fanny
论文数: 0 引用数: 0
h-index: 0
机构:
CHU Bordeaux, Serv Dermatol Pediat, Ctr Reference Malad Rares Peau, F-33076 Bordeaux, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

Caillaud, Denis
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Clermont Auvergne, Serv Pneumol Allergol, Hop Gabriel Montpied, Clermont Ferrand, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

Pottier, Nicolas
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Lille, Inst Pasteur Lille, CHU Lille, EA4483,IMPECS, Lille, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

Menard, Christelle
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bichat Claude Bernard, AP HP, Serv Genet, Paris, France
France Univ Paris Diderot, Sorbonne Paris Cite, Paris, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

Ba, Ibrahima
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bichat Claude Bernard, AP HP, Serv Genet, Paris, France
France Univ Paris Diderot, Sorbonne Paris Cite, Paris, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

Fernandes, Alicia
论文数: 0 引用数: 0
h-index: 0
机构:
AP HP, Biol Resources Ctr, Struct Federat Rech Necker, INSERM US24,CNRS,UMS3633, Paris, France
Inst Imagine, Paris, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

Crestani, Bruno
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bichat Claude Bernard, AP HP, Serv Pneumol A, DHU FIRE, Paris, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

de Villartay, Jean-Pierre
论文数: 0 引用数: 0
h-index: 0
机构:
Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France
Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

Gleizes, Pierre-Emmanuel
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Toulouse, CBI, Lab Biol Mol Eucaryote, UPS,CNRS, Toulouse, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

论文数: 引用数:
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Kannengiesser, Caroline
论文数: 0 引用数: 0
h-index: 0
机构:
Hop Bichat Claude Bernard, AP HP, Serv Genet, Paris, France
France Univ Paris Diderot, Sorbonne Paris Cite, Paris, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France

Revy, Patrick
论文数: 0 引用数: 0
h-index: 0
机构:
Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France
Paris Descartes Sorbonne Paris Cite Univ, Imagine Inst, Paris, France Equipe Labellisee Ligue Canc, Lab Genome Dynam Immune Syst, INSERM, UMR 1163, Paris, France
[4]
Long-Term Follow-Up of a Case with Dyskeratosis Congenita Caused by NHP2-V126M/X154R Mutation: Genotype-Phenotype Association
[J].
Erdem, Melek
;
Tufekci, Ozlem
;
Yilmaz, Sebnem
;
Alacacioglu, Inci
;
Oren, Hale
.
ACTA HAEMATOLOGICA,
2019, 141 (01)
:28-31

Erdem, Melek
论文数: 0 引用数: 0
h-index: 0
机构:
Dokuz Eylul Univ, Fac Med, Dept Pediat Hematol, TR-35340 Izmir, Turkey Dokuz Eylul Univ, Fac Med, Dept Pediat Hematol, TR-35340 Izmir, Turkey

Tufekci, Ozlem
论文数: 0 引用数: 0
h-index: 0
机构:
Dokuz Eylul Univ, Fac Med, Dept Pediat Hematol, TR-35340 Izmir, Turkey Dokuz Eylul Univ, Fac Med, Dept Pediat Hematol, TR-35340 Izmir, Turkey

Yilmaz, Sebnem
论文数: 0 引用数: 0
h-index: 0
机构:
Dokuz Eylul Univ, Fac Med, Dept Pediat Hematol, TR-35340 Izmir, Turkey Dokuz Eylul Univ, Fac Med, Dept Pediat Hematol, TR-35340 Izmir, Turkey

Alacacioglu, Inci
论文数: 0 引用数: 0
h-index: 0
机构:
Dokuz Eylul Univ, Fac Med, Dept Hematol, Izmir, Turkey Dokuz Eylul Univ, Fac Med, Dept Pediat Hematol, TR-35340 Izmir, Turkey

Oren, Hale
论文数: 0 引用数: 0
h-index: 0
机构:
Dokuz Eylul Univ, Fac Med, Dept Pediat Hematol, TR-35340 Izmir, Turkey Dokuz Eylul Univ, Fac Med, Dept Pediat Hematol, TR-35340 Izmir, Turkey
[5]
Hepatic manifestations of telomere biology disorders
[J].
Patnaik, Mrinal M.
;
Kamath, Patrick S.
;
Simonetto, Douglas A.
.
JOURNAL OF HEPATOLOGY,
2018, 69 (03)
:736-743

Patnaik, Mrinal M.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Div Hematol, Rochester, MN USA Mayo Clin, Div Hematol, Rochester, MN USA

Kamath, Patrick S.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Div Gastroenterol & Hepatol, Rochester, MN USA Mayo Clin, Div Hematol, Rochester, MN USA

Simonetto, Douglas A.
论文数: 0 引用数: 0
h-index: 0
机构:
Mayo Clin, Div Gastroenterol & Hepatol, Rochester, MN USA Mayo Clin, Div Hematol, Rochester, MN USA
[6]
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita
[J].
Vulliamy, Tom
;
Beswick, Richard
;
Kirwan, Michael
;
Marrone, Anna
;
Digweed, Martin
;
Walne, Amanda
;
Dokal, Inderjeet
.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA,
2008, 105 (23)
:8073-8078

Vulliamy, Tom
论文数: 0 引用数: 0
h-index: 0
机构:
Barts & London Queen Marys Sch Med & Dent, Inst Cell & Mol Sci, Acad Unit Paediat, London E1 2AT, England Barts & London Queen Marys Sch Med & Dent, Inst Cell & Mol Sci, Acad Unit Paediat, London E1 2AT, England

Beswick, Richard
论文数: 0 引用数: 0
h-index: 0
机构:
Barts & London Queen Marys Sch Med & Dent, Inst Cell & Mol Sci, Acad Unit Paediat, London E1 2AT, England Barts & London Queen Marys Sch Med & Dent, Inst Cell & Mol Sci, Acad Unit Paediat, London E1 2AT, England

Kirwan, Michael
论文数: 0 引用数: 0
h-index: 0
机构:
Barts & London Queen Marys Sch Med & Dent, Inst Cell & Mol Sci, Acad Unit Paediat, London E1 2AT, England Barts & London Queen Marys Sch Med & Dent, Inst Cell & Mol Sci, Acad Unit Paediat, London E1 2AT, England

Marrone, Anna
论文数: 0 引用数: 0
h-index: 0
机构:
Barts & London Queen Marys Sch Med & Dent, Inst Cell & Mol Sci, Acad Unit Paediat, London E1 2AT, England Barts & London Queen Marys Sch Med & Dent, Inst Cell & Mol Sci, Acad Unit Paediat, London E1 2AT, England

Digweed, Martin
论文数: 0 引用数: 0
h-index: 0
机构:
Charite, Inst Human Genet, D-13353 Berlin, Germany Barts & London Queen Marys Sch Med & Dent, Inst Cell & Mol Sci, Acad Unit Paediat, London E1 2AT, England

Walne, Amanda
论文数: 0 引用数: 0
h-index: 0
机构:
Barts & London Queen Marys Sch Med & Dent, Inst Cell & Mol Sci, Acad Unit Paediat, London E1 2AT, England Barts & London Queen Marys Sch Med & Dent, Inst Cell & Mol Sci, Acad Unit Paediat, London E1 2AT, England

Dokal, Inderjeet
论文数: 0 引用数: 0
h-index: 0
机构:
Barts & London Queen Marys Sch Med & Dent, Inst Cell & Mol Sci, Acad Unit Paediat, London E1 2AT, England Barts & London Queen Marys Sch Med & Dent, Inst Cell & Mol Sci, Acad Unit Paediat, London E1 2AT, England