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Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement. / Kline, Antonie D; Moss, Joanna F; Selicorni, Angelo; Bisgaard, Anne-Marie; Deardorff, Matthew A; Gillett, Peter M; Ishman, Stacey L; Kerr, Lynne M; Levin, Alex V; Mulder, Paul A; Ramos, Feliciano J; Wierzba, Jolanta; Ajmone, Paola Francesca; Axtell, David; Blagowidow, Natalie; Cereda, Anna; Costantino, Antonella; Cormier-Daire, Valerie; FitzPatrick, David; Grados, Marco; Groves, Laura; Guthrie, Whitney; Huisman, Sylvia; Kaiser, Frank J; Koekkoek, Gerritjan; Levis, Mary; Mariani, Milena; McCleery, Joseph P; Menke, Leonie A; Metrena, Amy; O'Connor, Julia; Oliver, Chris; Pie, Juan; Piening, Sigrid; Potter, Carol J; Quaglio, Ana L; Redeker, Egbert; Richman, David; Rigamonti, Claudia; Shi, Angell; Tümer, Zeynep; Van Balkom, Ingrid D C; Hennekam, Raoul C.
I:
Nature Reviews. Genetics, Bind 19, 2018, s. 649-666.
Publikation: Bidrag til tidsskrift › Review › Forskning › fagfællebedømt
Harvard
Kline, AD, Moss, JF, Selicorni, A, Bisgaard, A-M, Deardorff, MA, Gillett, PM, Ishman, SL, Kerr, LM, Levin, AV, Mulder, PA, Ramos, FJ, Wierzba, J, Ajmone, PF, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, FJ, Koekkoek, G, Levis, M, Mariani, M, McCleery, JP, Menke, LA, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, CJ, Quaglio, AL, Redeker, E, Richman, D, Rigamonti, C, Shi, A
, Tümer, Z, Van Balkom, IDC & Hennekam, RC 2018, '
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement',
Nature Reviews. Genetics, bind 19, s. 649-666.
https://doi.org/10.1038/s41576-018-0031-0APA
Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A-M., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P. F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., ... Hennekam, R. C. (2018).
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Nature Reviews. Genetics,
19, 649-666.
https://doi.org/10.1038/s41576-018-0031-0Vancouver
Kline AD, Moss JF, Selicorni A, Bisgaard A-M, Deardorff MA, Gillett PM o.a.
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Nature Reviews. Genetics. 2018;19:649-666.
https://doi.org/10.1038/s41576-018-0031-0Author
Kline, Antonie D ; Moss, Joanna F ; Selicorni, Angelo ; Bisgaard, Anne-Marie ; Deardorff, Matthew A ; Gillett, Peter M ; Ishman, Stacey L ; Kerr, Lynne M ; Levin, Alex V ; Mulder, Paul A ; Ramos, Feliciano J ; Wierzba, Jolanta ; Ajmone, Paola Francesca ; Axtell, David ; Blagowidow, Natalie ; Cereda, Anna ; Costantino, Antonella ; Cormier-Daire, Valerie ; FitzPatrick, David ; Grados, Marco ; Groves, Laura ; Guthrie, Whitney ; Huisman, Sylvia ; Kaiser, Frank J ; Koekkoek, Gerritjan ; Levis, Mary ; Mariani, Milena ; McCleery, Joseph P ; Menke, Leonie A ; Metrena, Amy ; O'Connor, Julia ; Oliver, Chris ; Pie, Juan ; Piening, Sigrid ; Potter, Carol J ; Quaglio, Ana L ; Redeker, Egbert ; Richman, David ; Rigamonti, Claudia ; Shi, Angell ; Tümer, Zeynep ; Van Balkom, Ingrid D C ; Hennekam, Raoul C. / Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement. I: Nature Reviews. Genetics. 2018 ; Bind 19. s. 649-666.
Bibtex
@article{3d62e6e9144b484eaafc32594a27be48,
title = "Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement",
abstract = "Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.",
author = "Kline, {Antonie D} and Moss, {Joanna F} and Angelo Selicorni and Anne-Marie Bisgaard and Deardorff, {Matthew A} and Gillett, {Peter M} and Ishman, {Stacey L} and Kerr, {Lynne M} and Levin, {Alex V} and Mulder, {Paul A} and Ramos, {Feliciano J} and Jolanta Wierzba and Ajmone, {Paola Francesca} and David Axtell and Natalie Blagowidow and Anna Cereda and Antonella Costantino and Valerie Cormier-Daire and David FitzPatrick and Marco Grados and Laura Groves and Whitney Guthrie and Sylvia Huisman and Kaiser, {Frank J} and Gerritjan Koekkoek and Mary Levis and Milena Mariani and McCleery, {Joseph P} and Menke, {Leonie A} and Amy Metrena and Julia O'Connor and Chris Oliver and Juan Pie and Sigrid Piening and Potter, {Carol J} and Quaglio, {Ana L} and Egbert Redeker and David Richman and Claudia Rigamonti and Angell Shi and Zeynep T{\"u}mer and {Van Balkom}, {Ingrid D C} and Hennekam, {Raoul C}",
year = "2018",
doi = "10.1038/s41576-018-0031-0",
language = "English",
volume = "19",
pages = "649--666",
journal = "Nature Reviews. Genetics",
issn = "1471-0056",
publisher = "nature publishing group",
}
RIS
TY - JOUR
T1 - Diagnosis and management of Cornelia de Lange syndrome
T2 - first international consensus statement
AU - Kline, Antonie D
AU - Moss, Joanna F
AU - Selicorni, Angelo
AU - Bisgaard, Anne-Marie
AU - Deardorff, Matthew A
AU - Gillett, Peter M
AU - Ishman, Stacey L
AU - Kerr, Lynne M
AU - Levin, Alex V
AU - Mulder, Paul A
AU - Ramos, Feliciano J
AU - Wierzba, Jolanta
AU - Ajmone, Paola Francesca
AU - Axtell, David
AU - Blagowidow, Natalie
AU - Cereda, Anna
AU - Costantino, Antonella
AU - Cormier-Daire, Valerie
AU - FitzPatrick, David
AU - Grados, Marco
AU - Groves, Laura
AU - Guthrie, Whitney
AU - Huisman, Sylvia
AU - Kaiser, Frank J
AU - Koekkoek, Gerritjan
AU - Levis, Mary
AU - Mariani, Milena
AU - McCleery, Joseph P
AU - Menke, Leonie A
AU - Metrena, Amy
AU - O'Connor, Julia
AU - Oliver, Chris
AU - Pie, Juan
AU - Piening, Sigrid
AU - Potter, Carol J
AU - Quaglio, Ana L
AU - Redeker, Egbert
AU - Richman, David
AU - Rigamonti, Claudia
AU - Shi, Angell
AU - Tümer, Zeynep
AU - Van Balkom, Ingrid D C
AU - Hennekam, Raoul C
PY - 2018
Y1 - 2018
N2 - Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.
AB - Cornelia de Lange syndrome (CdLS) is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.
U2 - 10.1038/s41576-018-0031-0
DO - 10.1038/s41576-018-0031-0
M3 - Review
C2 - 29995837
VL - 19
SP - 649
EP - 666
JO - Nature Reviews. Genetics
JF - Nature Reviews. Genetics
SN - 1471-0056
ER -
