The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.

Julia Brinkmann; Christina Lissewski; Valentina Pinna; Yoann Vial; Francesca Pantaleoni; Francesca Lepri; Paola Daniele; Birute Burnyte; Goran Cuturilo; Christine Fauth; Alper Gezdirici; Dieter Kotzot; Elif Yılmaz Güleç; Violeta Iotova; Denny Schanze; Francis Ramond; Markéta Havlovicová; Gulen Eda Utine; Pelin Ozlem Simsek-Kiper; Milena Stoyanova; Alain Verloes; Alessandro De Luca; Marco Tartaglia; Hélène Cavé; Martin Zenker

doi:10.1038/s41431-020-00743-3

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.

Julia Brinkmann
, Christina Lissewski
, Valentina Pinna
, Yoann Vial
, Francesca Pantaleoni
, Francesca Lepri
, Paola Daniele
, Birute Burnyte
, Goran Cuturilo
, Christine Fauth
, Alper Gezdirici
, Dieter Kotzot (Co-author)
, Elif Yılmaz Güleç
, Violeta Iotova
, Denny Schanze
, Francis Ramond
, Markéta Havlovicová
, Gulen Eda Utine
, Pelin Ozlem Simsek-Kiper
, Milena Stoyanova

Alain Verloes, Alessandro De Luca, Marco Tartaglia, Hélène Cavé, Martin Zenker

Institute of Human Genetics

Research output: Contribution to journal › Original Article › peer-review

10 Citations (Web of Science)

Original language	English
Pages (from-to)	524-527
Journal	EUROPEAN JOURNAL OF HUMAN GENETICS
Volume	29
Issue number	3
DOIs	https://doi.org/10.1038/s41431-020-00743-3
Publication status	Published - 2021

Keywords

ASSOCIATION
MUTATIONS
VARIANTS
A2ML1

Access to Document

10.1038/s41431-020-00743-3

Cite this

Brinkmann, J., Lissewski, C., Pinna, V., Vial, Y., Pantaleoni, F., Lepri, F., Daniele, P., Burnyte, B., Cuturilo, G., Fauth, C., Gezdirici, A., Kotzot, D., Güleç, E. Y., Iotova, V., Schanze, D., Ramond, F., Havlovicová, M., Utine, G. E., Simsek-Kiper, P. O., ... Zenker, M. (2021). The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered. EUROPEAN JOURNAL OF HUMAN GENETICS , 29(3), 524-527. https://doi.org/10.1038/s41431-020-00743-3

Brinkmann, Julia ; Lissewski, Christina ; Pinna, Valentina et al. / The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered. In: EUROPEAN JOURNAL OF HUMAN GENETICS 2021 ; Vol. 29, No. 3. pp. 524-527.

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title = "The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.",

keywords = "ASSOCIATION, MUTATIONS, VARIANTS, A2ML1",

author = "Julia Brinkmann and Christina Lissewski and Valentina Pinna and Yoann Vial and Francesca Pantaleoni and Francesca Lepri and Paola Daniele and Birute Burnyte and Goran Cuturilo and Christine Fauth and Alper Gezdirici and Dieter Kotzot and G{\"u}le{\c c}, \{Elif Yılmaz\} and Violeta Iotova and Denny Schanze and Francis Ramond and Mark{\'e}ta Havlovicov{\'a} and Utine, \{Gulen Eda\} and Simsek-Kiper, \{Pelin Ozlem\} and Milena Stoyanova and Alain Verloes and \{De Luca\}, Alessandro and Marco Tartaglia and H{\'e}l{\`e}ne Cav{\'e} and Martin Zenker",

year = "2021",

doi = "10.1038/s41431-020-00743-3",

language = "English",

volume = "29",

pages = "524--527",

journal = "EUROPEAN JOURNAL OF HUMAN GENETICS ",

issn = "1018-4813",

publisher = "Springer Nature",

number = "3",

}

Brinkmann, J, Lissewski, C, Pinna, V, Vial, Y, Pantaleoni, F, Lepri, F, Daniele, P, Burnyte, B, Cuturilo, G, Fauth, C, Gezdirici, A, Kotzot, D, Güleç, EY, Iotova, V, Schanze, D, Ramond, F, Havlovicová, M, Utine, GE, Simsek-Kiper, PO, Stoyanova, M, Verloes, A, De Luca, A, Tartaglia, M, Cavé, H & Zenker, M 2021, 'The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.', EUROPEAN JOURNAL OF HUMAN GENETICS , vol. 29, no. 3, pp. 524-527. https://doi.org/10.1038/s41431-020-00743-3

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered. / Brinkmann, Julia; Lissewski, Christina; Pinna, Valentina et al.
In: EUROPEAN JOURNAL OF HUMAN GENETICS , Vol. 29, No. 3, 2021, p. 524-527.

Research output: Contribution to journal › Original Article › peer-review

TY - JOUR

T1 - The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered.

AU - Brinkmann, Julia

AU - Lissewski, Christina

AU - Pinna, Valentina

AU - Vial, Yoann

AU - Pantaleoni, Francesca

AU - Lepri, Francesca

AU - Daniele, Paola

AU - Burnyte, Birute

AU - Cuturilo, Goran

AU - Fauth, Christine

AU - Gezdirici, Alper

AU - Kotzot, Dieter

AU - Güleç, Elif Yılmaz

AU - Iotova, Violeta

AU - Schanze, Denny

AU - Ramond, Francis

AU - Havlovicová, Markéta

AU - Utine, Gulen Eda

AU - Simsek-Kiper, Pelin Ozlem

AU - Stoyanova, Milena

AU - Verloes, Alain

AU - De Luca, Alessandro

AU - Tartaglia, Marco

AU - Cavé, Hélène

AU - Zenker, Martin

PY - 2021

Y1 - 2021

KW - ASSOCIATION

KW - MUTATIONS

KW - VARIANTS

KW - A2ML1

U2 - 10.1038/s41431-020-00743-3

DO - 10.1038/s41431-020-00743-3

M3 - Original Article

C2 - 33082526

SN - 1018-4813

VL - 29

SP - 524

EP - 527

JO - EUROPEAN JOURNAL OF HUMAN GENETICS

JF - EUROPEAN JOURNAL OF HUMAN GENETICS

IS - 3

ER -

Brinkmann J, Lissewski C, Pinna V, Vial Y, Pantaleoni F, Lepri F et al. The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered. EUROPEAN JOURNAL OF HUMAN GENETICS . 2021;29(3):524-527. doi: 10.1038/s41431-020-00743-3