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Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.

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Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. / Sieni, Elena; Cetica, Valentina; Santoro, Alessandra; Beutel, Karin; Mastrodicasa, Elena; Meeths, Marie; Ciambotti, Benedetta; Brugnolo, Francesca; Zur Stadt, Udo; Pende, Daniela; Moretta, Lorenzo; Griffiths, Gillian M; Henter, Jan-Inge; Janka-Schaub, Gritta; Aricò, Maurizio.

in: J MED GENET, Jahrgang 48, Nr. 5, 5, 2011, S. 343-352.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Sieni, E, Cetica, V, Santoro, A, Beutel, K, Mastrodicasa, E, Meeths, M, Ciambotti, B, Brugnolo, F, Zur Stadt, U, Pende, D, Moretta, L, Griffiths, GM, Henter, J-I, Janka-Schaub, G & Aricò, M 2011, 'Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.', J MED GENET, Jg. 48, Nr. 5, 5, S. 343-352. <http://www.ncbi.nlm.nih.gov/pubmed/21248318?dopt=Citation>

APA

Sieni, E., Cetica, V., Santoro, A., Beutel, K., Mastrodicasa, E., Meeths, M., Ciambotti, B., Brugnolo, F., Zur Stadt, U., Pende, D., Moretta, L., Griffiths, G. M., Henter, J-I., Janka-Schaub, G., & Aricò, M. (2011). Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. J MED GENET, 48(5), 343-352. [5]. http://www.ncbi.nlm.nih.gov/pubmed/21248318?dopt=Citation

Vancouver

Sieni E, Cetica V, Santoro A, Beutel K, Mastrodicasa E, Meeths M et al. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. J MED GENET. 2011;48(5):343-352. 5.

Bibtex

@article{263b3eb5412f4e6299ecfa6a87440a64,
title = "Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.",
abstract = "Mutations of UNC13D are causative for familial haemophagocytic lymphohistiocytosis type 3 (FHL3; OMIM 608898).",
keywords = "Humans, Male, Female, Adolescent, Child, Child, Preschool, Genotype, Infant, Infant, Newborn, Phenotype, Age of Onset, Mutation/genetics, Cell Degranulation/genetics/immunology, Cytotoxicity, Immunologic/genetics/immunology, Gene Order, *Genetic Association Studies, Killer Cells, Natural/physiology, *Lymphohistiocytosis, Hemophagocytic/genetics/immunology, Membrane Proteins/genetics, Humans, Male, Female, Adolescent, Child, Child, Preschool, Genotype, Infant, Infant, Newborn, Phenotype, Age of Onset, Mutation/genetics, Cell Degranulation/genetics/immunology, Cytotoxicity, Immunologic/genetics/immunology, Gene Order, *Genetic Association Studies, Killer Cells, Natural/physiology, *Lymphohistiocytosis, Hemophagocytic/genetics/immunology, Membrane Proteins/genetics",
author = "Elena Sieni and Valentina Cetica and Alessandra Santoro and Karin Beutel and Elena Mastrodicasa and Marie Meeths and Benedetta Ciambotti and Francesca Brugnolo and {Zur Stadt}, Udo and Daniela Pende and Lorenzo Moretta and Griffiths, {Gillian M} and Jan-Inge Henter and Gritta Janka-Schaub and Maurizio Aric{\`o}",
year = "2011",
language = "English",
volume = "48",
pages = "343--352",
journal = "J MED GENET",
issn = "0022-2593",
publisher = "BMJ PUBLISHING GROUP",
number = "5",

}

RIS

TY - JOUR

T1 - Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.

AU - Sieni, Elena

AU - Cetica, Valentina

AU - Santoro, Alessandra

AU - Beutel, Karin

AU - Mastrodicasa, Elena

AU - Meeths, Marie

AU - Ciambotti, Benedetta

AU - Brugnolo, Francesca

AU - Zur Stadt, Udo

AU - Pende, Daniela

AU - Moretta, Lorenzo

AU - Griffiths, Gillian M

AU - Henter, Jan-Inge

AU - Janka-Schaub, Gritta

AU - Aricò, Maurizio

PY - 2011

Y1 - 2011

N2 - Mutations of UNC13D are causative for familial haemophagocytic lymphohistiocytosis type 3 (FHL3; OMIM 608898).

AB - Mutations of UNC13D are causative for familial haemophagocytic lymphohistiocytosis type 3 (FHL3; OMIM 608898).

KW - Humans

KW - Male

KW - Female

KW - Adolescent

KW - Child

KW - Child, Preschool

KW - Genotype

KW - Infant

KW - Infant, Newborn

KW - Phenotype

KW - Age of Onset

KW - Mutation/genetics

KW - Cell Degranulation/genetics/immunology

KW - Cytotoxicity, Immunologic/genetics/immunology

KW - Gene Order

KW - Genetic Association Studies

KW - Killer Cells, Natural/physiology

KW - Lymphohistiocytosis, Hemophagocytic/genetics/immunology

KW - Membrane Proteins/genetics

KW - Humans

KW - Male

KW - Female

KW - Adolescent

KW - Child

KW - Child, Preschool

KW - Genotype

KW - Infant

KW - Infant, Newborn

KW - Phenotype

KW - Age of Onset

KW - Mutation/genetics

KW - Cell Degranulation/genetics/immunology

KW - Cytotoxicity, Immunologic/genetics/immunology

KW - Gene Order

KW - Genetic Association Studies

KW - Killer Cells, Natural/physiology

KW - Lymphohistiocytosis, Hemophagocytic/genetics/immunology

KW - Membrane Proteins/genetics

M3 - SCORING: Journal article

VL - 48

SP - 343

EP - 352

JO - J MED GENET

JF - J MED GENET

SN - 0022-2593

IS - 5

M1 - 5

ER -