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Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-58
By:
- Ritelli, Marco;
- Dordoni, Chiara;
- Venturini, Marina;
- Chiarelli, Nicola;
- Quinzani, Stefano;
- Traversa, Michele;
- Zoppi, Nicoletta;
- Vascellaro, Annalisa;
- Wischmeijer, Anita;
- Manfredini, Emanuela;
- Garavelli, Livia;
- Calzavara-Pinton, Piergiacomo;
- Colombi, Marina
Publication type:
Article
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
Published in:
2013
By:
- Ritelli, Marco;
- Dordoni, Chiara;
- Venturini, Marina;
- Chiarelli, Nicola;
- Quinzani, Stefano;
- Traversa, Michele;
- Zoppi, Nicoletta;
- Vascellaro, Annalisa;
- Wischmeijer, Anita;
- Manfredini, Emanuela;
- Garavelli, Livia;
- Calzavara-Pinton, Piergiacomo;
- Colombi, Marina
Publication type:
journal article
Aortic arch geometry predicts outcome in patients with Loeys–Dietz syndrome independent of the causative gene.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1673, doi. 10.1002/ajmg.a.61608
By:
- Mariucci, Elisabetta;
- Spinardi, Luca;
- Stagni, Silvia;
- Graziano, Claudio;
- Lovato, Luigi;
- Pacini, Davide;
- Di Marco, Luca;
- Careddu, Lucio;
- Angeli, Emanuela;
- Ciuca, Cristina;
- Wischmeijer, Anita;
- Gargiulo, Gaetano;
- Donti, Andrea
Publication type:
Article
Noonan syndrome-like disorder with loose anagen hair: A second case with neuroblastoma.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1902, doi. 10.1002/ajmg.a.37082
By:
- Garavelli, Livia;
- Cordeddu, Viviana;
- Errico, Stefania;
- Bertolini, Patrizia;
- Street, Maria Elisabeth;
- Rosato, Simonetta;
- Pollazzon, Marzia;
- Wischmeijer, Anita;
- Ivanovski, Ivan;
- Daniele, Paola;
- Bacchini, Ermanno;
- Lombardi, Alfonsa Anna;
- Izzi, Giancarlo;
- Biasucci, Giacomo;
- Del Rossi, Carmine;
- Corradi, Domenico;
- Cazzaniga, Giovanni;
- Dominici, Carlo;
- Rossi, Cesare;
- De Luca, Alessandro
Publication type:
Article
Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1015, doi. 10.1002/ajmg.a.36376
By:
- Gargano, Giancarlo;
- Guidotti, Isotta;
- Balestri, Eleonora;
- Vagnarelli, Federica;
- Rosato, Simonetta;
- Comitini, Giuseppina;
- Wischmeijer, Anita;
- La Sala, Giovanni Battista;
- Iughetti, Lorenzo;
- Cordeddu, Viviana;
- Rossi, Cesare;
- Tartaglia, Marco;
- Garavelli, Livia
Publication type:
Article
Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2894, doi. 10.1002/ajmg.a.36259
By:
- Garavelli, Livia;
- Piemontese, Maria Rosaria;
- Cavazza, Alberto;
- Rosato, Simonetta;
- Wischmeijer, Anita;
- Gelmini, Chiara;
- Albertini, Enrico;
- Albertini, Giuseppe;
- Forzano, Francesca;
- Franchi, Fabrizia;
- Carella, Massimo;
- Zelante, Leopoldo;
- Superti‐Furga, Andrea
Publication type:
Article
Focal dermal hypoplasia (goltz-gorlin syndrome): A new case with a novel variant in the PORCN gene (c.1250T>C:p.F417S) and unusual spinal anomaly.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1750, doi. 10.1002/ajmg.a.35964
By:
- Garavelli, Livia;
- Simonte, Graziella;
- Rosato, Simonetta;
- Wischmeijer, Anita;
- Albertini, Enrico;
- Guareschi, Elisa;
- Longo, Caterina;
- Albertini, Giuseppe;
- Gelmini, Chiara;
- Greco, Chiara;
- Errico, Stefania;
- Savino, Gustavo;
- Pavanello, Marco;
- Happle, Rudolf;
- Unger, Sheila;
- Superti‐Furga, Andrea;
- Grzeschik, Karl‐Heinz
Publication type:
Article
Thoracic Aortic Aneurysm in Infancy in Aneurysms- Osteoarthritis Syndrome Due to a Novel SMAD 3 Mutation: Further Delineation of the Phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 5, p. 1028, doi. 10.1002/ajmg.a.35852
By:
- Wischmeijer, Anita;
- Van Laer, Lut;
- Tortora, Giada;
- Bolar, Nikhita Ajit;
- Van Camp, Guy;
- Fransen, Erik;
- Peeters, Nils;
- di Bartolomeo, Roberto;
- Pacini, Davide;
- Gargiulo, Gaetano;
- Turci, Simone;
- Bonvicini, Marco;
- Mariucci, Elisabetta;
- Lovato, Luigi;
- Brusori, Stefano;
- Ritelli, Marco;
- Colombi, Marina;
- Garavelli, Livia;
- Seri, Marco;
- Loeys, Bart L.
Publication type:
Article
Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 273, doi. 10.1002/ajmg.a.35717
By:
- Cordelli, Duccio Maria;
- Garavelli, Livia;
- Savasta, Salvatore;
- Guerra, Azzurra;
- Pellicciari, Alessandro;
- Giordano, Lucio;
- Bonetti, Silvia;
- Cecconi, Ilaria;
- Wischmeijer, Anita;
- Seri, Marco;
- Rosato, Simonetta;
- Gelmini, Chiara;
- Della Giustina, Elvio;
- Ferrari, Anna Rita;
- Zanotta, Nicoletta;
- Epifanio, Roberta;
- Grioni, Daniele;
- Malbora, Baris;
- Mammi, Isabella;
- Mari, Francesca
Publication type:
Article
Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2245, doi. 10.1002/ajmg.a.35474
By:
- Garavelli, Livia;
- Gargano, Giancarlo;
- Simonte, Graziella;
- Rosato, Simonetta;
- Wischmeijer, Anita;
- Melli, Nives;
- Braibanti, Silvia;
- Gelmini, Chiara;
- Forzano, Francesca;
- Pietrobono, Roberta;
- Pomponi, Maria Grazia;
- Andreucci, Elena;
- Toutain, Annick;
- Superti-Furga, Andrea;
- Neri, Giovanni
Publication type:
Article
Spontaneous coronary artery dissection in a young woman with Loeys-Dietz syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 5, p. 1216, doi. 10.1002/ajmg.a.35277
By:
- Fattori, Rossella;
- Sangiorgio, Pietro;
- Mariucci, Elisabetta;
- Ritelli, Marco;
- Wischmeijer, Anita;
- Greco, Cristiano;
- Colombi, Marina
Publication type:
Article
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 927, doi. 10.1002/ajmg.a.35231
By:
- Zampatti, Stefania;
- Castori, Marco;
- Fischer, Bjoern;
- Ferrari, Paola;
- Garavelli, Livia;
- Dionisi-Vici, Carlo;
- Agolini, Emanuele;
- Wischmeijer, Anita;
- Morava, Eva;
- Novelli, Giuseppe;
- Häberle, Johannes;
- Kornak, Uwe;
- Brancati, Francesco
Publication type:
Article
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.
Published in:
FASEB Journal, 2019, v. 33, n. 10, p. 1, doi. 10.1096/fj.201802722R
By:
- Diquigiovanni, Chiara;
- Bergamini, Christian;
- Diaz, Rebeca;
- Liparulo, Irene;
- Bianco, Francesca;
- Masin, Luca;
- Baldassarro, Vito Antonio;
- Rizzardi, Nicola;
- Tranchina, Antonia;
- Buscherini, Francesco;
- Wischmeijer, Anita;
- Pippucci, Tommaso;
- Scarano, Emanuela;
- Cordelli, Duccio Maria;
- Fato, Romana;
- Seri, Marco;
- Paracchini, Silvia;
- Bonora, Elena
Publication type:
Article
Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role.
Published in:
Interactive Cardiovascular & Thoracic Surgery, 2017, v. 25, n. 5, p. 813, doi. 10.1093/icvts/ivx242
By:
- Tortora, Giada;
- Wischmeijer, Anita;
- Berretta, Paolo;
- Alfonsi, Jacopo;
- Di Marco, Luca;
- Barbieri, Andrea;
- Marconi, Caterina;
- Isidori, Federica;
- Rossi, Cesare;
- Leone, Ornella;
- Di Bartolomeo, Roberto;
- Seri, Marco;
- Pacini, Davide
Publication type:
Article
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.
Published in:
Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0164-1
By:
- Magini, Pamela;
- Poscente, Monica;
- Ferrari, Simona;
- Vargiolu, Manuela;
- Bacchelli, Elena;
- Graziano, Claudio;
- Wischmeijer, Anita;
- Turchetti, Daniela;
- Malaspina, Elisabetta;
- Marchiani, Valentina;
- Cordelli, Duccio Maria;
- Franzoni, Emilio;
- Romeo, Giovanni;
- Seri, Marco
Publication type:
Article
Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: Genetic homogeneity and nosological delineation.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 2, p. 332, doi. 10.1002/ajmg.a.33793
By:
- Garavelli, Livia;
- Wischmeijer, Anita;
- Rosato, Simonetta;
- Gelmini, Chiara;
- Reverberi, Sandro;
- Sassi, Silvia;
- Ferrari, Adriano;
- Mari, Francesca;
- Zabel, Bernhard;
- Lausch, Ekkehart;
- Unger, Sheila;
- Superti-Furga, Andrea
Publication type:
Article
Diagnostic Accuracy of Aortic Root Cross-sectional Area/Height Ratio in Children and Young Adults with Marfan and Loeys-Dietz Syndrome.
Published in:
Congenital Heart Disease, 2016, v. 11, n. 3, p. 276, doi. 10.1111/chd.12315
By:
- Mariucci, Elisabetta;
- Donti, Andrea;
- Guidarini, Marta;
- Oppido, Guido;
- Angeli, Emanuela;
- Lovato, Luigi;
- Wischmeijer, Anita;
- Finlay, Malcolm;
- Gargiulo, Gaetano D.;
- Picchio, Fernando M.;
- Bonvicini, Marco
Publication type:
Article
Multiple sulfatase deficiency with neonatal manifestation.
Published in:
Italian Journal of Pediatrics, 2014, v. 40, n. 1, p. 1, doi. 10.1186/s13052-014-0086-2
By:
- Garavelli, Livia;
- Santoro, Lucia;
- Iori, Alexandra;
- Gargano, Giancarlo;
- Braibanti, Silvia;
- Pedori, Simona;
- Melli, Nives;
- Frattini, Daniele;
- Zampini, Lucia;
- Galeazzi, Tiziana;
- Padella, Lucia;
- Pepe, Stefano;
- Wischmeijer, Anita;
- Rosato, Simonetta;
- Ivanovski, Ivan;
- Iughetti, Lorenzo;
- Gelmini, Chiara;
- Bernasconi, Sergio;
- Superti-Furga, Andrea;
- Ballabio, Andrea
Publication type:
Article
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Published in:
Human Mutation, 2016, v. 37, n. 2, p. 175, doi. 10.1002/humu.22922
By:
- Negri, Gloria;
- Magini, Pamela;
- Milani, Donatella;
- Colapietro, Patrizia;
- Rusconi, Daniela;
- Scarano, Emanuela;
- Bonati, Maria Teresa;
- Priolo, Manuela;
- Crippa, Milena;
- Mazzanti, Laura;
- Wischmeijer, Anita;
- Tamburrino, Federica;
- Pippucci, Tommaso;
- Finelli, Palma;
- Larizza, Lidia;
- Gervasini, Cristina
Publication type:
Article
EEC- and ADULT-Associated TP63 Mutations Exhibit Functional Heterogeneity Toward P63 Responsive Sequences.
Published in:
Human Mutation, 2013, v. 34, n. 6, p. 894, doi. 10.1002/humu.22304
By:
- Monti, Paola;
- Russo, Debora;
- Bocciardi, Renata;
- Foggetti, Giorgia;
- Menichini, Paola;
- Divizia, Maria T.;
- Lerone, Margherita;
- Graziano, Claudio;
- Wischmeijer, Anita;
- Viadiu, Hector;
- Ravazzolo, Roberto;
- Inga, Alberto;
- Fronza, Gilberto
Publication type:
Article
NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 24, p. 4907, doi. 10.1093/hmg/ddp461
By:
- Deveault, Catherine;
- Qian, Jian Hua;
- Chebaro, Wafaa;
- Ao, Asangla;
- Gilbert, Lucy;
- Mehio, Amira;
- Khan, Rabia;
- Tan, Seang Lin;
- Wischmeijer, Anita;
- Coullin, Philippe;
- Xie, Xing;
- Slim, Rima
Publication type:
Article
NLRP7 mutations in women with diploid androgenetic and triploid moles: a proposed mechanism for mole formation.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 5, p. 888, doi. 10.1093/hmg/ddn418
By:
- Deveault, Catherine;
- Qian, Jian Hua;
- Chebaro, Wafaa;
- Ao, Asangla;
- Gilbert, Lucy;
- Mehio, Amira;
- Khan, Rabia;
- Tan, Seang Lin;
- Wischmeijer, Anita;
- Coullin, Philippe;
- Xie, Xing;
- Slim, Rima
Publication type:
Article
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes.
Published in:
Genes, 2023, v. 14, n. 8, p. 1526, doi. 10.3390/genes14081526
By:
- Ambrosetti, Irene;
- Bernardini, Laura;
- Pollazzon, Marzia;
- Giuffrida, Maria Grazia;
- Guida, Valentina;
- Peluso, Francesca;
- Baroni, Maria Chiara;
- Polizzi, Valeria;
- Napoli, Manuela;
- Rosato, Simonetta;
- Trimarchi, Gabriele;
- Gelmini, Chiara;
- Caraffi, Stefano Giuseppe;
- Wischmeijer, Anita;
- Frattini, Daniele;
- Novelli, Antonio;
- Garavelli, Livia
Publication type:
Article
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Published in:
Genes, 2019, v. 10, n. 10, p. 764, doi. 10.3390/genes10100764
By:
- Camerota, Letizia;
- Ritelli, Marco;
- Wischmeijer, Anita;
- Majore, Silvia;
- Cinquina, Valeria;
- Fortugno, Paola;
- Monetta, Rosanna;
- Gigante, Laura;
- Sangiuolo, Federica Carla;
- Novelli, Giuseppe;
- Colombi, Marina;
- Brancati, Francesco
Publication type:
Article
Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients.
Published in:
2024
By:
- Goodkey, Kara;
- Wischmeijer, Anita;
- Perrin, Laurence;
- Watson, Adrianne E. S.;
- Qureshi, Leenah;
- Cordelli, Duccio Maria;
- Toni, Francesco;
- Gnazzo, Maria;
- Benedicenti, Francesco;
- Elmaleh‑Berges, Monique;
- Low, Karen J.;
- Voronova, Anastassia
Publication type:
Correction Notice
Correction: Olfactory bulb anomalies in KBG syndrome mouse model and patients.
Published in:
2024
By:
- Goodkey, Kara;
- Wischmeijer, Anita;
- Perrin, Laurence;
- Watson, Adrianne E. S.;
- Qureshi, Leenah;
- Cordelli, Duccio Maria;
- Toni, Francesco;
- Gnazzo, Maria;
- Benedicenti, Francesco;
- Elmaleh‑Berges, Monique;
- Low, Karen J.;
- Voronova, Anastassia
Publication type:
Correction Notice
Olfactory bulb anomalies in KBG syndrome mouse model and patients.
Published in:
BMC Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12916-024-03363-6
By:
- Goodkey, Kara;
- Wischmeijer, Anita;
- Perrin, Laurence;
- Watson, Adrianne E. S.;
- Qureshi, Leenah;
- Cordelli, Duccio Maria;
- Toni, Francesco;
- Gnazzo, Maria;
- Benedicenti, Francesco;
- Elmaleh-Bergès, Monique;
- Low, Karen J.;
- Voronova, Anastassia
Publication type:
Article
Olfactory bulb anomalies in KBG syndrome mouse model and patients.
Published in:
BMC Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12916-024-03363-6
By:
- Goodkey, Kara;
- Wischmeijer, Anita;
- Perrin, Laurence;
- Watson, Adrianne E. S.;
- Qureshi, Leenah;
- Cordelli, Duccio Maria;
- Toni, Francesco;
- Gnazzo, Maria;
- Benedicenti, Francesco;
- Elmaleh-Bergès, Monique;
- Low, Karen J.;
- Voronova, Anastassia
Publication type:
Article

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