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Your search keyword '"Haaften, G. (Gijs) van"' showing total 3 results
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3 results on '"Haaften, G. (Gijs) van"'

1. EML1-associated brain overgrowth syndrome with ribbon-like heterotopia

Author

Oegema, R. (Renske), McGillivray, G. (George), Leventer, R.J. (Richard), Le Moing, A.-G. (Anne-Gaëlle), Bahi-Buisson, N. (Nadia), Barnicoat, A. (Angela), Mandelstam, S. (Simone), Francis, D. (David), Francis, F. (Fiona), Mancini, G.M.S. (Grazia), Savelberg, S.M.C. (Sanne M.C.), Haaften, G. (Gijs) van, Mankad, K. (Kshitij), Leguin, M. (Maarten), Oegema, R. (Renske), McGillivray, G. (George), Leventer, R.J. (Richard), Le Moing, A.-G. (Anne-Gaëlle), Bahi-Buisson, N. (Nadia), Barnicoat, A. (Angela), Mandelstam, S. (Simone), Francis, D. (David), Francis, F. (Fiona), Mancini, G.M.S. (Grazia), Savelberg, S.M.C. (Sanne M.C.), Haaften, G. (Gijs) van, Mankad, K. (Kshitij), and Leguin, M. (Maarten)

Abstract

EML1 encodes the protein Echinoderm microtubule-associated protein-like 1 or EMAP-1 that binds to the microtubule complex. Mutations in this gene resulting in complex brain malformations have only recently been published with limited clinical descriptions. We provide further clinical and imaging details on three previously published families, and describe two novel unrelated individuals with a homozygous partial EML1 deletion and a homozygous missense variant c.760G>A, p.(Val254Met), respectively. From review of the clinical and imaging data of eight individuals from five families with biallelic EML1 variants, a very consistent imaging phenotype emerges. The clinical syndrome is characterized by mainly neurological features including severe developmental delay, drug-resistant seizures and visual impairment. On brain imaging there is megalencephaly with a characteristic ribbo

Published
2019
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2. Genetic obesity: Next-generation sequencing results of 1230 patients with obesity

Author

Kleinendorst, L. (Lotte), Massink, M.P.G. (Maarten P.G.), Cooiman, M.I. (Mellody I.), Savas, M. (Mesut), Van Der Baan-Slootweg, O.H. (Olga H.), Roelants, R.J. (Roosje J.), Janssen, I.C.M. (Ignace C. M.), Meijers-Heijboer, H.J. (Hanne J.), Knoers, N.V.A.M. (Nine), Ploos van Amstel, H.K. (Hans), Rossum, E.F.C. (Liesbeth) van, Akker, E.L.T. (Erica) van den, Haaften, G. (Gijs) van, Zwaag, B. (Bert) van der, Haelst, M.M. (Mieke) van, Kleinendorst, L. (Lotte), Massink, M.P.G. (Maarten P.G.), Cooiman, M.I. (Mellody I.), Savas, M. (Mesut), Van Der Baan-Slootweg, O.H. (Olga H.), Roelants, R.J. (Roosje J.), Janssen, I.C.M. (Ignace C. M.), Meijers-Heijboer, H.J. (Hanne J.), Knoers, N.V.A.M. (Nine), Ploos van Amstel, H.K. (Hans), Rossum, E.F.C. (Liesbeth) van, Akker, E.L.T. (Erica) van den, Haaften, G. (Gijs) van, Zwaag, B. (Bert) van der, and Haelst, M.M. (Mieke) van

Abstract

Background Obesity is a global and severe health problem. Due to genetic heterogeneity, the identificatio

Published
2018
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3. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Author

Ockeloen, C. (Charlotte), Willemsen, M.H. (Marjolein), Munnik, S.A. (Sonja) de, Bon, B. (Bregje) van, Leeuw, N. (Nicole) de, Verrips, A. (Aad), Kant, S.G. (Sarina), Jones, E.A. (Elizabeth A.), Brunner, H.G., Van Loon, R.L.E. (Rosa), Smeets, E.E.J. (Eric E.J.), Haelst, M.M. (Mieke) van, Haaften, G. (Gijs) van, Nordgren, A. (Ann), Malmgren, H. (Helena), Grigelioniene, G. (Giedre), Vermeer, S.E. (Sarah), Louro, P. (Pedro), Ramos, L. (Lina), Maal, T.J.J. (Thomas J.J.), Heumen, C.C.M. (Céleste) van, Yntema, H.G., Carels, C.E.L. (Carine), Kleefstra, T. (Tjitske), Ockeloen, C. (Charlotte), Willemsen, M.H. (Marjolein), Munnik, S.A. (Sonja) de, Bon, B. (Bregje) van, Leeuw, N. (Nicole) de, Verrips, A. (Aad), Kant, S.G. (Sarina), Jones, E.A. (Elizabeth A.), Brunner, H.G., Van Loon, R.L.E. (Rosa), Smeets, E.E.J. (Eric E.J.), Haelst, M.M. (Mieke) van, Haaften, G. (Gijs) van, Nordgren, A. (Ann), Malmgren, H. (Helena), Grigelioniene, G. (Giedre), Vermeer, S.E. (Sarah), Louro, P. (Pedro), Ramos, L. (Lina), Maal, T.J.J. (Thomas J.J.), Heumen, C.C.M. (Céleste) van, Yntema, H.G., Carels, C.E.L. (Carine), and Kleefstra, T. (Tjitske)

Abstract

Loss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental, neurobehavioural, craniofacial and skeletal

Published
2015
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