Works by Bertoli‐Avella, Aida M.

Results: 36
    1
    2

    Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.

    Published in:
    Human Mutation, 2010, v. 31, n. 5, p. E1348, doi. 10.1002/humu.21234
    By:
    • Valstar, Marlies J.;
    • Bertoli-Avella, Aida M.;
    • Wessels, Marja W.;
    • Ruijter, George J.G.;
    • de Graaf, Bianca;
    • Olmer, Renske;
    • Elfferich, Peter;
    • Neijs, Sanne;
    • Kariminejad, Roxana;
    • Suheyl Ezgü, Fatih;
    • Tokatli, Aysegul;
    • Czartoryska, Barbara;
    • Bosschaart, Ad N.;
    • van den Bos-Terpstra, Feikje;
    • Puissant, Hugues;
    • Bürger, Friederike;
    • Omran, Heymut;
    • Eckert, D.;
    • Filocamo, Mirella;
    • Simeonov, Emil
    Publication type:
    Article
    3

    PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 9, p. 1345, doi. 10.1002/acn3.51634
    By:
    • Dafsari, Hormos Salimi;
    • Pemberton, Joshua G.;
    • Ferrer, Elizabeth A.;
    • Yammine, Tony;
    • Farra, Chantal;
    • Mohammadi, Mohammad Hasan;
    • Karimiani, Ehsan Ghayoor;
    • Hashemi, Narges;
    • Souaid, Mirna;
    • Sabbagh, Sandra;
    • Torbati, Paria Najarzadeh;
    • Khan, Suliman;
    • Roze, Emmanuel;
    • Moreno-De-Luca, Andres;
    • Bertoli-Avella, Aida M.;
    • Houlden, Henry;
    • Balla, Tamas;
    • Maroofian, Reza
    Publication type:
    Article
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    Linkage disequilibrium in young genetically isolated Dutch population.

    Published in:
    European Journal of Human Genetics, 2004, v. 12, n. 7, p. 527, doi. 10.1038/sj.ejhg.5201188
    By:
    • Aulchenko, Yurii S.;
    • Heutink, Peter;
    • Mackay, Ian;
    • Bertoli-Avella, Aida M.;
    • Pullen, Jan;
    • Vaessen, Norbert;
    • Rademaker, Tessa AM;
    • Sandkuijl, Lodewijk A.;
    • Cardon, Lon;
    • Oostra, Ben;
    • van Duijn, Cornelia M.
    Publication type:
    Article
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    7

    Novel parkin mutations detected in patients with early-onset Parkinson's disease.

    Published in:
    2005
    By:
    • Bertoli-Avella, Aida M.;
    • Giroud-Benitez, José L.;
    • Akyol, Ali;
    • Barbosa, Egberto;
    • Schaap, Onno;
    • van der Linde, Herma C.;
    • Martignoni, Emilia;
    • Lopiano, Leonardo;
    • Lamberti, Paolo;
    • Fincati, Emiliana;
    • Antonini, Angelo;
    • Stocchi, Fabrizio;
    • Montagna, Pasquale;
    • Squitieri, Ferdinando;
    • Marini, Paolo;
    • Abbruzzese, Giovanni;
    • Fabbrini, Giovanni;
    • Marconi, Roberto;
    • Dalla Libera, Alessio;
    • Trianni, Giorgio
    Publication type:
    journal article
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    First locus for primary pulmonary vein stenosis maps to chromosome 2q.

    Published in:
    European Heart Journal, 2009, v. 30, n. 20, p. 2485, doi. 10.1093/eurheartj/ehp271
    By:
    • van de Laar, Ingrid;
    • Wessels, Marja;
    • Frohn-Mulder, Ingrid;
    • Dalinghaus, Michiel;
    • de Graaf, Bianca;
    • van Tienhoven, Marianne;
    • van der Moer, Paul;
    • Husen-Ebbinge, Margreet;
    • Lequin, Maarten;
    • Dooijes, Dennis;
    • de Krijger, Ronald;
    • Oostra, Ben A.;
    • Bertoli-Avella, Aida M.
    Publication type:
    Article
    10

    The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

    Published in:
    Clinical Genetics, 2024, v. 105, n. 5, p. 510, doi. 10.1111/cge.14481
    By:
    • Elkhateeb, Nour;
    • Issa, Mahmoud Y.;
    • Elbendary, Hasnaa M.;
    • Elnaggar, Walaa;
    • Ramadan, Areef;
    • Rafat, Karima;
    • Kamel, Mona;
    • Abdel‐Ghafar, Sherif F.;
    • Amer, Fawzia;
    • Hassaan, Hebatallah M.;
    • Trunzo, Roberta;
    • Pereira, Catarina;
    • Abdel‐Hamid, Mohamed S.;
    • D'Arco, Felice;
    • Bauer, Peter;
    • Bertoli‐Avella, Aida M.;
    • Girgis, Marian;
    • Gleeson, Joseph G.;
    • Zaki, Maha S.;
    • Selim, Laila
    Publication type:
    Article
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    HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein.

    Published in:
    Clinical Genetics, 2022, v. 102, n. 5, p. 444, doi. 10.1111/cge.14203
    By:
    • Kraatari‐Tiri, Minna;
    • Soikkonen, Leila;
    • Myllykoski, Matti;
    • Jamshidi, Yalda;
    • Karimiani, Ehsan G.;
    • Komulainen‐Ebrahim, Jonna;
    • Kallankari, Hanna;
    • Mignot, Cyril;
    • Depienne, Christel;
    • Keren, Boris;
    • Nougues, Marie‐Christine;
    • Alsahlawi, Zahra;
    • Romito, Antonio;
    • Martini, Javier;
    • Toosi, Mehran B.;
    • Carroll, Christopher J.;
    • Tripolszki, Kornelia;
    • Bauer, Peter;
    • Uusimaa, Johanna;
    • Bertoli‐Avella, Aida M.
    Publication type:
    Article
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    ADAMTS19‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.

    Published in:
    Clinical Genetics, 2020, v. 98, n. 1, p. 56, doi. 10.1111/cge.13760
    By:
    • Massadeh, Salam;
    • Alhashem, Amal;
    • Laar, Ingrid M.B.H.;
    • Alhabshan, Fahad;
    • Ordonez, Natalia;
    • Alawbathani, Salem;
    • Khan, Suliman;
    • Kabbani, Mohamed S.;
    • Chaikhouni, Farah;
    • Sheereen, Atia;
    • Almohammed, Iman;
    • Alghamdi, Bader;
    • Frohn‐Mulder, Ingrid;
    • Ahmad, Salim;
    • Beetz, Christian;
    • Bauer, Peter;
    • Wessels, Marja W.;
    • Alaamery, Manal;
    • Bertoli‐Avella, Aida M.
    Publication type:
    Article
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    Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1196, doi. 10.1002/ajmg.a.36997
    By:
    • Monroe, Glen R;
    • Harakalova, Magdalena;
    • van der Crabben, Saskia N;
    • Majoor‐Krakauer, Danielle;
    • Bertoli‐Avella, Aida M;
    • Moll, Frans L;
    • Oranen, Björn I;
    • Dooijes, Dennis;
    • Vink, Aryan;
    • Knoers, Nine V;
    • Maugeri, Alessandra;
    • Pals, Gerard;
    • Nijman, Isaac J;
    • van Haaften, Gijs;
    • Baas, Annette F
    Publication type:
    Article
    19

    A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.

    Published in:
    Human Genetics, 2008, v. 122, n. 6, p. 595, doi. 10.1007/s00439-007-0436-x
    By:
    • Wessels, Marja W.;
    • Graaf, Bianca M.;
    • Cohen-Overbeek, Titia E.;
    • Spitaels, Silja E.;
    • Groot-de Laat, Lotte E.;
    • Ten Cate, Folkert J.;
    • Frohn-Mulder, Ingrid F. M.;
    • de Krijger, Ronald;
    • Bartelings, Margot M.;
    • Essed, Nienke;
    • Wladimiroff, Jury W.;
    • Niermeijer, Martinus F.;
    • Heutink, Peter;
    • Oostra, Ben A.;
    • Dooijes, Dennis;
    • Bertoli-Avella, Aida M.;
    • Willems, Patrick J.
    Publication type:
    Article
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    Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome.

    Published in:
    2022
    By:
    • Ali Alghamdi, Malak;
    • Benabdelkamel, Hicham;
    • Masood, Afshan;
    • Saheb Sharif-Askari, Narjes;
    • Hachim, Mahmood Y.;
    • Alsheikh, Hamad;
    • Hamad, Muddathir H.;
    • Salih, Mustafa A.;
    • Bashiri, Fahad A.;
    • Alhasan, Khalid;
    • Kashour, Tarek;
    • Guatibonza Moreno, Pilar;
    • Schröder, Sabine;
    • Karageorgou, Vasiliki;
    • Bertoli-Avella, Aida M.;
    • Alkhalidi, Hisham;
    • Jamjoom, Dima Z.;
    • Alorainy, Ibrahim A.;
    • Alfadda, Assim A.;
    • Halwani, Rabih
    Publication type:
    Case Study
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    Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

    Published in:
    NPJ Genomic Medicine, 2020, v. 5, n. 1, p. N.PAG, doi. 10.1038/s41525-020-00150-z
    By:
    • Cheema, Huma;
    • Bertoli-Avella, Aida M.;
    • Skrahina, Volha;
    • Anjum, Muhammad Nadeem;
    • Waheed, Nadia;
    • Saeed, Anjum;
    • Beetz, Christian;
    • Perez-Lopez, Jordi;
    • Rocha, Maria Eugenia;
    • Alawbathani, Salem;
    • Pereira, Catarina;
    • Hovakimyan, Marina;
    • Patric, Irene Rosita Pia;
    • Paknia, Omid;
    • Ameziane, Najim;
    • Cozma, Claudia;
    • Bauer, Peter;
    • Rolfs, Arndt
    Publication type:
    Article
    27

    Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis.

    Published in:
    Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 12, p. 1, doi. 10.1002/mgg3.2256
    By:
    • Alabdulrazzaq, Fatima;
    • Alanzi, Talal;
    • Al‐Balool, Haya H.;
    • Gardham, Alice;
    • Wakeling, Emma;
    • Leitch, Harry G.;
    • AlSayed, Moeenaldeen;
    • Abdulrahim, Maha;
    • Aladwani, Abdulaziz;
    • Romito, Antonio;
    • Kampe, Kapil;
    • Ferdinandusse, Sacha;
    • Aboelanine, Ashraf H.;
    • Abdullah, Amira;
    • Alwadani, Amal;
    • Bastaki, Laila;
    • Vaz, Frédéric M.;
    • Bertoli‐Avella, Aida M.;
    • Marafi, Dana
    Publication type:
    Article
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    Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants.

    Published in:
    Journal of Clinical Medicine, 2024, v. 13, n. 20, p. 6197, doi. 10.3390/jcm13206197
    By:
    • Rösner, Sabine;
    • Pardo, Luba M.;
    • Bertoli-Avella, Aida M.;
    • Skrahina, Volha;
    • Engel, Pierre;
    • Schröder, Sabine;
    • Zielske, Susan;
    • Bonke, Valerie;
    • Kreth, Janett;
    • Westphal, Gina;
    • Reder, Felix;
    • Skobalj, Snezana;
    • Zielke, Susanne;
    • Bogdanovic, Xenia;
    • Grieger, Paula;
    • Rennecke, Jörg;
    • Skripuletz, Thomas;
    • Patten, Monica;
    • Aßmus, Birgit;
    • Hahn, Katrin
    Publication type:
    Article
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    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
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    Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).

    Published in:
    Human Genetics, 2018, v. 137, n. 9, p. 753, doi. 10.1007/s00439-018-1929-5
    By:
    • Bramswig, Nuria C.;
    • Bertoli-Avella, Aida M.;
    • Albrecht, Beate;
    • Al Aqeel, Aida I.;
    • Alhashem, Amal;
    • Al-Sannaa, Nouriya;
    • Bah, Maissa;
    • Bröhl, Katharina;
    • Depienne, Christel;
    • Dorison, Nathalie;
    • Doummar, Diane;
    • Ehmke, Nadja;
    • Elbendary, Hasnaa M.;
    • Gorokhova, Svetlana;
    • Héron, Delphine;
    • Horn, Denise;
    • James, Kiely;
    • Keren, Boris;
    • Kuechler, Alma;
    • Ismail, Samira
    Publication type:
    Article