Found: 30

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  • SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.

    Published in:
    Brain: A Journal of Neurology, 2023, v. 146, n. 11, p. 4547, doi. 10.1093/brain/awad235
    By:
    • Fasham, James;
    • Huebner, Antje K;
    • Liebmann, Lutz;
    • Khalaf-Nazzal, Reham;
    • Maroofian, Reza;
    • Kryeziu, Nderim;
    • Wortmann, Saskia B;
    • Leslie, Joseph S;
    • Ubeyratna, Nishanka;
    • Mancini, Grazia M S;
    • Slegtenhorst, Marjon van;
    • Wilke, Martina;
    • Haack, Tobias B;
    • Shamseldin, Hanan E;
    • Gleeson, Joseph G;
    • Almuhaizea, Mohamed;
    • Dweikat, Imad;
    • Abu-Libdeh, Bassam;
    • Daana, Muhannad;
    • Zaki, Maha S
    Publication type:
    Article

  • Definitions and classification of malformations of cortical development: practical guidelines.

    Published in:
    2020
    By:
    • Severino, Mariasavina;
    • Geraldo, Ana Filipa;
    • Utz, Norbert;
    • Tortora, Domenico;
    • Pogledic, Ivana;
    • Klonowski, Wlodzimierz;
    • Triulzi, Fabio;
    • Arrigoni, Filippo;
    • Mankad, Kshitij;
    • Leventer, Richard J;
    • Mancini, Grazia M S;
    • Barkovich, James A;
    • Lequin, Maarten H;
    • Rossi, Andrea
    Publication type:
    journal article

  • SYT1-associated neurodevelopmental disorder: a case series.

    Published in:
    2018
    By:
    • Baker, Kate;
    • Gordon, Sarah L;
    • Melland, Holly;
    • Bumbak, Fabian;
    • Scott, Daniel J;
    • Jiang, Tess J;
    • Owen, David;
    • Turner, Bradley J;
    • Boyd, Stewart G;
    • Rossi, Mari;
    • Al-Raqad, Mohammed;
    • Elpeleg, Orly;
    • Peck, Dawn;
    • Mancini, Grazia M S;
    • Wilke, Martina;
    • Zollino, Marcella;
    • Marangi, Giuseppe;
    • Weigand, Heike;
    • Borggraefe, Ingo;
    • Haack, Tobias
    Publication type:
    journal article

  • The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.

    Published in:
    Acta Obstetricia et Gynecologica Scandinavica, 2021, v. 100, n. 6, p. 1106, doi. 10.1111/aogs.14053
    By:
    • Diderich, Karin E. M.;
    • Romijn, Kathleen;
    • Joosten, Marieke;
    • Govaerts, Lutgarde C. P.;
    • Polak, Marike;
    • Bruggenwirth, Hennie T.;
    • Wilke, Martina;
    • Slegtenhorst, Marjon A.;
    • Bever, Yolande;
    • Brooks, Alice S.;
    • Mancini, Grazia M. S.;
    • Laar, Ingrid M. B. H.;
    • Kromosoeto, Joan N. R.;
    • Knapen, Maarten F. C. M.;
    • Go, Attie T. J. I.;
    • Van Opstal, Diane;
    • Hoefsloot, Lies H.;
    • Galjaard, Robert‐Jan H.;
    • Srebniak, Malgorzata I.
    Publication type:
    Article

  • De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.

    Published in:
    Human Genetics, 2023, v. 142, n. 7, p. 949, doi. 10.1007/s00439-023-02569-7
    By:
    • Smits, Daphne J.;
    • Schot, Rachel;
    • Popescu, Cristiana A.;
    • Dias, Kerith-Rae;
    • Ades, Lesley;
    • Briere, Lauren C.;
    • Sweetser, David A.;
    • Kushima, Itaru;
    • Aleksic, Branko;
    • Khan, Suliman;
    • Karageorgou, Vasiliki;
    • Ordonez, Natalia;
    • Sleutels, Frank J. G. T.;
    • van der Kaay, Daniëlle C. M.;
    • Van Mol, Christine;
    • Van Esch, Hilde;
    • Bertoli-Avella, Aida M.;
    • Roscioli, Tony;
    • Mancini, Grazia M. S.
    Publication type:
    Article

  • CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.

    Published in:
    Human Genetics, 2023, v. 142, n. 3, p. 379, doi. 10.1007/s00439-022-02511-3
    By:
    • Smits, Daphne J.;
    • Dekker, Jordy;
    • Schot, Rachel;
    • Tabarki, Brahim;
    • Alhashem, Amal;
    • Demmers, Jeroen A. A.;
    • Dekkers, Dick H. W.;
    • Romito, Antonio;
    • van der Spek, Peter J.;
    • van Ham, Tjakko J.;
    • Bertoli-Avella, Aida M.;
    • Mancini, Grazia M. S.
    Publication type:
    Article

  • Infantile sialic acid storage disease (ISSD): Report of the first case detected in Poland.

    Published in:
    Pediatrics International, 2003, v. 45, n. 2, p. 199, doi. 10.1046/j.1442-200X.2003.01693.x
    By:
    • Tylki-SzymáNska, Anna;
    • Czartoryska, Barbara;
    • Lugowska, Agnieszka;
    • Verheijen, Frans W;
    • Mancini, Grazia M S;
    • Rokicki, Dariusz;
    • Taybert, Joanna;
    • ChmielíNska, Elzbieta
    Publication type:
    Article

  • EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 627, doi. 10.1002/ajmg.c.31751
    By:
    • Oegema, Renske;
    • McGillivray, George;
    • Leventer, Richard;
    • Le Moing, Anne‐Gaëlle;
    • Bahi‐Buisson, Nadia;
    • Barnicoat, Angela;
    • Mandelstam, Simone;
    • Francis, David;
    • Francis, Fiona;
    • Mancini, Grazia M. S.;
    • Savelberg, Sanne;
    • Haaften, Gijs;
    • Mankad, Kshitij;
    • Lequin, Maarten H.
    Publication type:
    Article

  • Human RAD50 deficiency: Confirmation of a distinctive phenotype.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 6, p. 1378, doi. 10.1002/ajmg.a.61570
    By:
    • Ragamin, Aviël;
    • Yigit, Gökhan;
    • Bousset, Kristine;
    • Beleggia, Filippo;
    • Verheijen, Frans W.;
    • Wit, Marie‐Claire Y.;
    • Strom, Tim M.;
    • Dörk, Thilo;
    • Wollnik, Bernd;
    • Mancini, Grazia M. S.
    Publication type:
    Article

  • Mixoploidy combined with aneuploidy in a 13 year‐old patient with severe multiple congenital abnormalities and intellectual disability.

    Published in:
    American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 492, doi. 10.1002/ajmg.a.38553
    By:
    • van Zutven, Laura J. C. M.;
    • Mancini, Grazia M. S.;
    • Bindels‐de Heus, Karen G. C. B.;
    • van den Akker, Erica L. T.;
    • Hulsman, Lorette O. M.;
    • Smit, Marjan;
    • Berna Beverloo, H.
    Publication type:
    Article

  • Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 6, p. 1601, doi. 10.1002/ajmg.a.38240
    By:
    • Huijmans, Jan G. M.;
    • Schot, Rachel;
    • de Klerk, Johannis B. C.;
    • Williams, Monique;
    • de Coo, René F. M.;
    • Duran, Marinus;
    • Verheijen, Frans W.;
    • van Slegtenhorst, Marjon;
    • Mancini, Grazia M. S.
    Publication type:
    Article

  • Severe presentation of WDR62 mutation: Is there a role for modifying genetic factors?

    Published in:
    American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2161, doi. 10.1002/ajmg.a.36611
    By:
    • Poulton, Cathryn J.;
    • Schot, Rachel;
    • Seufert, Katja;
    • Lequin, Maarten H.;
    • Accogli, Andrea;
    • Annunzio, Giuseppe D';
    • Villard, Laurent;
    • Philip, Nicole;
    • de Coo, René;
    • Catsman‐Berrevoets, Coriene;
    • Grasshoff, Ute;
    • Kattentidt‐Mouravieva, Anja;
    • Calf, Hans;
    • de Vreugt‐Gronloh, Erika;
    • van Unen, Leontine;
    • Verheijen, Frans W.;
    • Galjart, Niels;
    • Morris‐Rosendahl, Deborah J.;
    • Mancini, Grazia M. S.
    Publication type:
    Article

  • Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of ?-dystroglycan.

    Published in:
    Nature Genetics, 2012, v. 44, n. 5, p. 581, doi. 10.1038/ng.2253
    By:
    • Roscioli, Tony;
    • Kamsteeg, Erik-Jan;
    • Buysse, Karen;
    • Maystadt, Isabelle;
    • van Reeuwijk, Jeroen;
    • van den Elzen, Christa;
    • van Beusekom, Ellen;
    • Riemersma, Moniek;
    • Pfundt, Rolph;
    • Vissers, Lisenka E L M;
    • Schraders, Margit;
    • Altunoglu, Umut;
    • Buckley, Michael F;
    • Brunner, Han G;
    • Grisart, Bernard;
    • Zhou, Huiqing;
    • Veltman, Joris A;
    • Gilissen, Christian;
    • Mancini, Grazia M S;
    • Delrée, Paul
    Publication type:
    Article

  • De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 4, p. 440, doi. 10.1038/ng.1091
    By:
    • Rivière, Jean-Baptiste;
    • van Bon, Bregje W M;
    • Hoischen, Alexander;
    • Kholmanskikh, Stanislav S;
    • O'Roak, Brian J;
    • Gilissen, Christian;
    • Gijsen, Sabine;
    • Sullivan, Christopher T;
    • Christian, Susan L;
    • Abdul-Rahman, Omar A;
    • Atkin, Joan F;
    • Chassaing, Nicolas;
    • Drouin-Garraud, Valerie;
    • Fry, Andrew E;
    • Fryns, Jean-Pierre;
    • Gripp, Karen W;
    • Kempers, Marlies;
    • Kleefstra, Tjitske;
    • Mancini, Grazia M S;
    • Nowaczyk, Ma?gorzata J M
    Publication type:
    Article

  • Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome.

    Published in:
    Nature Genetics, 2006, v. 38, n. 4, p. 452, doi. 10.1038/ng1764
    By:
    • Coucke, Paul J.;
    • Willaert, Andy;
    • Wessels, Marja W.;
    • Callewaert, Bert;
    • Zoppi, Nicoletta;
    • De Backer, Julie;
    • Fox, Joyce E.;
    • Mancini, Grazia M. S.;
    • Kambouris, Marios;
    • Gardella, Rita;
    • Facchetti, Fabio;
    • Willems, Patrick J.;
    • Forsyth, Ramses;
    • Dietz, Harry C.;
    • Barlati, Sergio;
    • Colombi, Marina;
    • Loeys, Bart;
    • De Paepe, Anne
    Publication type:
    Article

  • Altered distribution of ATG9A and accumulation of axonal aggregates in neurons from a mouse model of AP-4 deficiency syndrome.

    Published in:
    PLoS Genetics, 2018, v. 14, n. 4, p. 1, doi. 10.1371/journal.pgen.1007363
    By:
    • De Pace, Raffaella;
    • Skirzewski, Miguel;
    • Damme, Markus;
    • Mattera, Rafael;
    • Mercurio, Jeffrey;
    • Foster, Arianne M.;
    • Cuitino, Loreto;
    • Jarnik, Michal;
    • Hoffmann, Victoria;
    • Morris, H. Douglas;
    • Han, Tae-Un;
    • Mancini, Grazia M. S.;
    • Buonanno, Andrés;
    • Bonifacino, Juan S.
    Publication type:
    Article

  • Long-term follow-up of type 1 lissencephaly: survival is related to neuroimaging abnormalities.

    Published in:
    2011
    By:
    • DE WIT, MARIE-CLAIRE Y.;
    • DE RIJK-VAN ANDEL, JOJANNEKE;
    • HALLEY, DICKY J.;
    • PODDIGHE, PINO J.;
    • ARTS, WILLEM FRANS M.;
    • DE COO, IRENAEUS F. M.;
    • MANCINI, GRAZIA M. S.
    Publication type:
    journal article

  • Loss of USP18 in microglia induces white matter pathology.

    Published in:
    2019
    By:
    • Schwabenland, Marius;
    • Mossad, Omar;
    • Peres, Adam G.;
    • Kessler, Franziska;
    • Maron, Feres Jose Mocayar;
    • Harsan, Laura-Adela;
    • Bienert, Thomas;
    • von Elverfeldt, Dominik;
    • Knobeloch, Klaus-Peter;
    • Staszewski, Ori;
    • Heppner, Frank L.;
    • Meuwissen, Marije E. C.;
    • Mancini, Grazia M. S.;
    • Prinz, Marco;
    • Blank, Thomas
    Publication type:
    Letter

  • The clinical spectrum of complete FBN1 allele deletions.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 3, p. 247, doi. 10.1038/ejhg.2010.174
    By:
    • Hilhorst-Hofstee, Yvonne;
    • Hamel, Ben C. J.;
    • Verheij, Joke B. G. M.;
    • Rijlaarsdam, Marry E. B.;
    • Mancini, Grazia M. S.;
    • Cobben, Jan M.;
    • Giroth, Cindy;
    • Ruivenkamp, Claudia A. L.;
    • Hansson, Kerstin B. M.;
    • Timmermans, Janneke;
    • Moll, Henriette A.;
    • Breuning, Martijn H.;
    • Pals, Gerard
    Publication type:
    Article

  • A single strand that links multiple neuropathologies in human disease.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. e266, doi. 10.1093/brain/awt197
    By:
    • Oegema, Renske;
    • Poulton, Cathryn J.;
    • Mancini, Grazia M. S.
    Publication type:
    Article

  • Magnetic resonance imaging pattern recognition in hypomyelinating disorders.

    Published in:
    Brain: A Journal of Neurology, 2010, v. 133, n. 10, p. 2971, doi. 10.1093/brain/awq257
    By:
    • Steenweg, Marjan E.;
    • Vanderver, Adeline;
    • Blaser, Susan;
    • Bizzi, Alberto;
    • De Koning, Tom J.;
    • Mancini, Grazia M. S.;
    • Van Wieringen, Wessel N.;
    • Barkhof, Frederik;
    • Wolf, Nicole I.;
    • Van der Knaap, Marjo S.
    Publication type:
    Article

  • The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 5, p. 574, doi. 10.1111/cge.14587
    By:
    • Furia, Francesca;
    • Levy, Amanda M.;
    • Theunis, Miel;
    • Bamshad, Michael J.;
    • Bartos, Meghan N.;
    • Bijlsma, Emilia K.;
    • Brancati, Francesco;
    • Cejudo, Lucile;
    • Chong, Jessica X.;
    • De Luca, Chiara;
    • Dean, Sarah Joy;
    • Egense, Alena;
    • Goel, Himanshu;
    • Guenzel, Adam J.;
    • Hüffmeier, Ulrike;
    • Legius, Eric;
    • Mancini, Grazia M. S.;
    • Marcos‐Alcalde, Iñigo;
    • Niclass, Tanguy;
    • Planes, Marc
    Publication type:
    Article

  • A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement.

    Published in:
    Clinical Genetics, 2022, v. 101, n. 1, p. 32, doi. 10.1111/cge.14027
    By:
    • Douzgou, Sofia;
    • Rawson, Myfanwy;
    • Baselga, Eulalia;
    • Danielpour, Moise;
    • Faivre, Laurence;
    • Kashanian, Alon;
    • Keppler‐Noreuil, Kim M.;
    • Kuentz, Paul;
    • Mancini, Grazia M. S.;
    • Maniere, Marie‐Cecile;
    • Martinez‐Glez, Victor;
    • Parker, Victoria E.;
    • Semple, Robert K.;
    • Srivastava, Siddharth;
    • Vabres, Pierre;
    • De Wit, Marie‐Claire Y.;
    • Graham, John M.;
    • Clayton‐Smith, Jill;
    • Mirzaa, Ghayda M.;
    • Biesecker, Leslie G.
    Publication type:
    Article

  • Intracerebral hemorrhage and COL4A1 and COL4A2 mutations, from fetal life into adulthood.

    Published in:
    Annals of Neurology, 2012, v. 71, n. 4, p. 439, doi. 10.1002/ana.23544
    By:
    • de Vries, Linda S.;
    • Mancini, Grazia M. S.
    Publication type:
    Article

  • Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.

    Published in:
    Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 3, p. 393, doi. 10.1002/mgg3.387
    By:
    • van der Schoot, Vyne;
    • de Munnik, Sonja;
    • Venselaar, Hanka;
    • Elting, Mariet;
    • Mancini, Grazia M. S.;
    • Ravenswaaij-Arts, Conny M. A.;
    • Anderlid, Britt-Marie;
    • Brunner, Han G.;
    • Stevens, Servi J. C.
    Publication type:
    Article

  • Contiguous mutation syndrome in the era of high-throughput sequencing.

    Published in:
    Molecular Genetics & Genomic Medicine, 2015, v. 3, n. 3, p. 215, doi. 10.1002/mgg3.134
    By:
    • Langouët, Maéva;
    • Siquier‐Pernet, Karine;
    • Sanquer, Sylvia;
    • Bole‐Feysot, Christine;
    • Nitschke, Patrick;
    • Boddaert, Nathalie;
    • Munnich, Arnold;
    • Mancini, Grazia M. S.;
    • Barouki, Robert;
    • Amiel, Jeanne;
    • Colleaux, Laurence
    Publication type:
    Article

  • Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.

    Published in:
    Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-95743-8
    By:
    • Gabrielle, Pierre-Henry;
    • Faivre, Laurence;
    • Audo, Isabelle;
    • Zanlonghi, Xavier;
    • Dollfus, Hélène;
    • Thiadens, Alberta A. H. J.;
    • Zeitz, Christina;
    • Mancini, Grazia M. S.;
    • Perdomo, Yaumara;
    • Mohand-Saïd, Saddek;
    • Lizé, Eléonore;
    • Lhussiez, Vincent;
    • Nandrot, Emeline F.;
    • Acar, Niyazi;
    • Creuzot-Garcher, Catherine;
    • Sahel, José-Alain;
    • Ansar, Muhammad;
    • Thauvin-Robinet, Christel;
    • Duplomb, Laurence;
    • Da Costa, Romain
    Publication type:
    Article

  • Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP.

    Published in:
    Human Mutation, 2020, v. 41, n. 11, p. 1906, doi. 10.1002/humu.24097
    By:
    • MacKenzie, Katherine C.;
    • Graaf, Bianca M.;
    • Syrimis, Andreas;
    • Zhao, Yuying;
    • Brosens, Erwin;
    • Mancini, Grazia M. S.;
    • Schot, Rachel;
    • Halley, Dicky;
    • Wilke, Martina;
    • Vøllo, Arve;
    • Flinter, Frances;
    • Green, Andrew;
    • Mansour, Sahar;
    • Pilch, Jacek;
    • Stark, Zornitza;
    • Zamba‐Papanicolaou, Eleni;
    • Christophidou‐Anastasiadou, Violetta;
    • Hofstra, Robert M. W.;
    • Jongbloed, Jan D. H.;
    • Nicolaou, Nayia
    Publication type:
    Article

  • WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.

    Published in:
    Human Mutation, 2015, v. 36, n. 11, p. 1021, doi. 10.1002/humu.22828
    By:
    • Vodopiutz, Julia;
    • Seidl, Rainer;
    • Prayer, Daniela;
    • Khan, M. Imran;
    • Mayr, Johannes A.;
    • Streubel, Berthold;
    • Steiß, Jens‐Oliver;
    • Hahn, Andreas;
    • Csaicsich, Dagmar;
    • Castro, Christel;
    • Assoum, Mirna;
    • Müller, Thomas;
    • Wieczorek, Dagmar;
    • Mancini, Grazia M. S.;
    • Sadowski, Carolin E.;
    • Lévy, Nicolas;
    • Mégarbané, André;
    • Godbole, Koumudi;
    • Schanze, Denny;
    • Hildebrandt, Friedhelm
    Publication type:
    Article

  • Sialic Acid Storage Disorders: Observations on Clinical and Biochemical Variation.

    Published in:
    Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 327, doi. 10.1159/000112181
    By:
    • Mancini, Grazia M. S.;
    • Verheijen, Frans W.;
    • Beerens, Cecile E. M. T.;
    • Renlund, Martin;
    • Aula, Pertti
    Publication type:
    Article