A
Anne Destree
Publications - 35
Citations - 1935
Anne Destree is an academic researcher. The author has contributed to research in topics: Missense mutation & Microcephaly. The author has an hindex of 18, co-authored 34 publications receiving 1605 citations.
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Journal ArticleDOI
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
Alexander J Doyle,Alexander J Doyle,Alexander J Doyle,Jefferson J. Doyle,Seneca L. Bessling,Samantha Maragh,Samantha Maragh,Mark E. Lindsay,Dorien Schepers,Elisabeth Gillis,Geert Mortier,Tessa Homfray,Kimberly Sauls,Russell A. Norris,Nicholas D Huso,Daniel J. Leahy,Daniel J. Leahy,David W. Mohr,Mark J. Caulfield,Alan F. Scott,Anne Destree,Raoul C.M. Hennekam,Pamela Arn,Cynthia J. Curry,Lut Van Laer,Andrew S. McCallion,Bart Loeys,Bart Loeys,Harry C. Dietz,Harry C. Dietz +29 more
TL;DR: Drawing the conclusions that increased TGF-β signaling is the mechanism underlying SGS and that high signaling contributes to multiple syndromic presentations of aortic aneurysm are supported.
Journal ArticleDOI
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
David A. Koolen,Andrew J. Sharp,Andrew J. Sharp,Jane A. Hurst,Helen V. Firth,Samantha J. L. Knight,Alice Goldenberg,Pascale Saugier-Veber,R. Pfundt,Lisenka E.L.M. Vissers,Anne Destree,Bernard Grisart,Liesbeth Rooms,N. Van der Aa,Michael Field,Anna Hackett,Kathleen Bell,Małgorzata J.M. Nowaczyk,Grazia M.S. Mancini,Pino J. Poddighe,C. E. Schwartz,Elena Rossi,M. De Gregori,L. L. Antonacci-Fulton,Michael D. McLellan,J. M. Garrett,M. A. Wiechert,Tracie L. Miner,Seth D. Crosby,Roberto Ciccone,Lionel Willatt,Anita Rauch,Martin Zenker,Swaroop Aradhya,Melanie A. Manning,T. M. Strom,J. Wagenstaller,Ana Cristina Victorino Krepischi-Santos,Angela Maria Vianna-Morgante,Carla Rosenberg,Susan Price,H. Stewart,Charles Shaw-Smith,Han G. Brunner,Andrew O.M. Wilkie,Joris A. Veltman,Orsetta Zuffardi,Evan E. Eichler,Evan E. Eichler,B. B. A. de Vries +49 more
TL;DR: The data establish the 17q21.31 microdeletion syndrome as a clinically and molecularly well recognisable genomic disorder and shows that it is highly underdiagnosed.
Journal ArticleDOI
STXBP1 encephalopathy A neurodevelopmental disorder including epilepsy
Hannah Stamberger,Marina Nikanorova,Marjolein H. Willemsen,Patrizia Accorsi,Marco Angriman,Hartmut Baier,Ira Benkel-Herrenbrueck,Valérie Benoit,Mauro Budetta,Almuth Caliebe,Gaetano Cantalupo,Giuseppe Capovilla,Gianluca Casara,Carolina Courage,Marie Deprez,Anne Destree,Robertino Dilena,Corrie E. Erasmus,Madeleine Fannemel,Roar Fjær,Lucio Giordano,Katherine L. Helbig,Henrike O. Heyne,Joerg Klepper,Gerhard Kluger,Damien Lederer,Monica Lodi,Oliver Maier,Andreas Merkenschlager,Nina Michelberger,Carlo Minetti,Hiltrud Muhle,Judith Phalin,Keri Ramsey,Antonino Romeo,Jens Schallner,Ina Schanze,Marwan Shinawi,Kristel Sleegers,Katalin Sterbova,Steffen Syrbe,Monica Traverso,Andreas Tzschach,Peter Uldall,Rudy Van Coster,Helene Verhelst,Maurizio Viri,Susan Winter,Markus Wolff,Martin Zenker,Leonardo Zoccante,Peter De Jonghe,Ingo Helbig,Pasquale Striano,Johannes R. Lemke,Rikke S. Møller,Sarah Weckhuysen +56 more
TL;DR: De novo STXBP1 mutations are among the most frequent causes of epilepsy and encephalopathy with little correlation among seizure onset, seizure severity, and the degree of ID, and it is hypothesize that seizure severity and ID present 2 independent dimensions of the STX BP1-E phenotype.
Journal ArticleDOI
Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome
Nathalie Van der Aa,Liesbeth Rooms,Geert Vandeweyer,Jenneke van den Ende,Edwin Reyniers,Marco Fichera,Corrado Romano,Barbara Delle Chiaie,Geert Mortier,Björn Menten,Anne Destree,Isabelle Maystadt,Katrin Männik,Ants Kurg,Tiia Reimand,Dom McMullan,Christine Oley,Louise Brueton,Ernie M.H.F. Bongers,Bregje W.M. van Bon,Rolph Pfund,Sébastien Jacquemont,Alessandra Ferrarini,Danielle Martinet,Connie Schrander-Stumpel,Alexander P.A. Stegmann,Suzanna G.M. Frints,Bert B.A. de Vries,Berten Ceulemans,R. Frank Kooy +29 more
TL;DR: This patient collection demonstrates that the 7q11.23 microduplication not only causes language delay, but is also associated with congenital anomalies and a recognizable face.
Journal ArticleDOI
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Kitiwan Rojnueangnit,Kitiwan Rojnueangnit,Jing Xie,Alicia Gomes,Angela Sharp,Tom Callens,Yunjia Chen,Ying Liu,Meagan E. Cochran,Mary Alice Abbott,Joan F. Atkin,Dusica Babovic-Vuksanovic,Christopher P. Barnett,Melissa Crenshaw,Dennis Bartholomew,Lina Basel,Gary Bellus,Shay Ben-Shachar,Martin G. Bialer,David P. Bick,Bruce Blumberg,Fanny Cortés,Karen L. David,Anne Destree,Anna Duat-Rodriguez,Dawn L. Earl,Luis F. Escobar,Marthanda Eswara,Begona Ezquieta,Ian M. Frayling,Moshe Frydman,Kathy Gardner,Karen W. Gripp,Concepción Hernández-Chico,Kurt Heyrman,Jennifer Ibrahim,Sandra Janssens,Beth Keena,Isabel Llano-Rivas,Kathy A. Leppig,Marie T. McDonald,Vinod K. Misra,Jennifer Mulbury,Vinodh Narayanan,Naama Orenstein,Patricia Galvin-Parton,Helio Pedro,Eniko K. Pivnick,Cynthia M. Powell,Linda M. Randolph,Salmo Raskin,Jordi Rosell,Karol Rubin,Margretta R. Seashore,Christian P. Schaaf,Angela E. Scheuerle,Meredith Schultz,Elizabeth K. Schorry,Rhonda E. Schnur,Elizabeth Siqveland,Amanda Tkachuk,James H. Tonsgard,Meena Upadhyaya,Ishwar C. Verma,Stephanie E Wallace,Charles A. Williams,Elaine H. Zackai,Jonathan Zonana,Conxi Lázaro,Kathleen Claes,Bruce R. Korf,Yolanda Martin,Eric Legius,Ludwine Messiaen +73 more
TL;DR: 136 individuals with a distinct phenotype carrying one of five different NF1 missense mutations affecting p.Arg1809 affect 1.23% of unrelated NF1 probands in the UAB cohort, therefore this specific NF1 genotype–phenotype correlation will affect counseling and management of a significant number of patients.