Works by Bertoli‐Avella, Aida M.

Results: 36

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
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
Prenatal and postnatal diagnosis of Schuurs‐Hoeijmakers syndrome: Case series and review of the literature.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 384, doi. 10.1002/ajmg.a.61964
By:
- Seto, Mimi Tin‐Yan;
- Bertoli‐Avella, Aida M.;
- Cheung, Ka Wang;
- Chan, Kelvin Yuen‐Kwong;
- Yeung, Kit San;
- Fung, Jasmine Lee‐Fong;
- Beetz, Christian;
- Bauer, Peter;
- Luk, Ho Ming;
- Lo, Ivan Fai‐Man;
- Lee, Chin Peng;
- Chung, Brian Hon‐Yin;
- Kan, Anita Sik‐Yau
Publication type:
Article
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
Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease.
Published in:
Movement Disorders, 2003, v. 18, n. 11, p. 1240, doi. 10.1002/mds.10534
By:
- Aida M. Bertoli-Avella;
- Jose L. Giroud-Benitez;
- Vincenzo Bonifati;
- Eduardo Alvarez-Gonzalez;
- Luis Heredero-Baute;
- Cornelia M. Van Duijn;
- Peter Heutink
Publication type:
Article
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
Evidence for novel loci for late-onset Parkinson’s disease in a genetic isolate from the Netherlands.
Published in:
Human Genetics, 2006, v. 119, n. 1/2, p. 51, doi. 10.1007/s00439-005-0108-7
By:
- Bertoli-Avella, Aida M.;
- Dekker, Marieke C. J.;
- Aulchenko, Yurii S.;
- Houwing-Duistermaat, Jeanine J.;
- Simons, Erik;
- Testers, Leon;
- Pardo, Luba M.;
- Rademaker, Tessa A. M.;
- Snijders, Pieter J. L.;
- Swieten, John C.;
- Bonifati, Vincenzo;
- Heutink, Peter;
- van Duijn, Cornelia M.;
- Oostra, Ben A.
Publication type:
Article
Chasing genes in Alzheimer’s and Parkinson’s disease.
Published in:
Human Genetics, 2004, v. 114, n. 5, p. 413, doi. 10.1007/s00439-004-1097-7
By:
- Bertoli-Avella, Aida M.;
- Oostra, Ben A.;
- Heutink, Peter
Publication type:
Article
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
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
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
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.
Published in:
Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2019.00425
By:
- Greenbaum, Lior;
- Pode-Shakked, Ben;
- Eisenberg-Barzilai, Shlomit;
- Dicastro-Keidar, Michal;
- Bar-Ziv, Anat;
- Goldstein, Nurit;
- Reznik-Wolf, Haike;
- Poran, Hana;
- Rigbi, Amihai;
- Barel, Ortal;
- Bertoli-Avella, Aida M.;
- Bauer, Peter;
- Regev, Miriam;
- Raas-Rothschild, Annick;
- Pras, Elon;
- Berkenstadt, Michal
Publication type:
Article
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
O2-02-03: Linkage-based full genome scan for late onset Alzheimer’s disease in a genetically isolated population
Published in:
2006
By:
- Liu, Fan;
- Arias-Vásquez, Alejandro;
- Aulchenko, Yurii S.;
- Sleegers, Kristel;
- Sanchez-Juan, Pascual;
- Bertoli-Avella, Aida M.;
- Jian Feng, Bing;
- Isaacs, Aaron;
- Heutink, Peter;
- van Broeckhoven, Christine;
- Oostra, Ben A.;
- van Duijn, Cornelia M.
Publication type:
Abstract
O2-02-03: Linkage-based full genome scan for late onset Alzheimer’s disease in a genetically isolated population
Published in:
2006
By:
- Liu, Fan;
- Arias-Vásquez, Alejandro;
- Aulchenko, Yurii S.;
- Sleegers, Kristel;
- Sanchez-Juan, Pascual;
- Bertoli-Avella, Aida M.;
- Jian Feng, Bing;
- Isaacs, Aaron;
- Heutink, Peter;
- van Broeckhoven, Christine;
- Oostra, Ben A.;
- van Duijn, Cornelia M.
Publication type:
Abstract
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
Published in:
Neurogenetics, 2009, v. 10, n. 4, p. 289, doi. 10.1007/s10048-009-0193-1
By:
- Brusse, Esther;
- Majoor-Krakauer, Danielle;
- de Graaf, Bianca M.;
- Visser, Gerhard H.;
- Swagemakers, Sigrid;
- Boon, Agnita J. W.;
- Oostra, Ben A.;
- Bertoli-Avella, Aida M.
Publication type:
Article
A comprehensive global genotype-phenotype database for rare diseases.
Published in:
Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 1, p. 66, doi. 10.1002/mgg3.262
By:
- Trujillano, Daniel;
- Oprea, Gabriela‐Elena;
- Schmitz, Yvonne;
- Bertoli‐Avella, Aida M.;
- Abou Jamra, Rami;
- Rolfs, Arndt
Publication type:
Article
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
Adding to the evidence of gene‐disease association of RAP1B and syndromic thrombocytopenia.
Published in:
Clinical Genetics, 2024, v. 105, n. 2, p. 196, doi. 10.1111/cge.14438
By:
- Pardo, Luba M.;
- Aanicai, Ruxandra;
- Zonic, Emir;
- Hakonen, Anna H.;
- Zielske, Susan;
- Bauer, Peter;
- Bertoli‐Avella, Aida M.
Publication type:
Article
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
Biallelic loss‐of‐function HACD1 variants are a bona fide cause of congenital myopathy.
Published in:
Clinical Genetics, 2021, v. 99, n. 4, p. 513, doi. 10.1111/cge.13905
By:
- Abbasi‐Moheb, Lia;
- Westenberger, Ana;
- Alotaibi, Maha;
- Alghamdi, Malak Ali;
- Hertecant, Jozef L.;
- Ariamand, Amir;
- Beetz, Christian;
- Rolfs, Arndt;
- Bertoli‐Avella, Aida M.;
- Bauer, Peter
Publication type:
Article
An X‐linked syndrome with severe neurodevelopmental delay, hydrocephalus, and early lethality caused by a missense variation in the OTUD5 gene.
Published in:
Clinical Genetics, 2021, v. 99, n. 2, p. 303, doi. 10.1111/cge.13873
By:
- Tripolszki, Kornelia;
- Sasaki, Erina;
- Hotakainen, Ronja;
- Kassim, Abdul Halim;
- Pereira, Catarina;
- Rolfs, Arndt;
- Bauer, Peter;
- Reardon, William;
- Bertoli‐Avella, Aida M.
Publication type:
Article
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
A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia.
Published in:
Clinical Genetics, 2019, v. 95, n. 5, p. 631, doi. 10.1111/cge.13513
By:
- Yüksel, Zafer;
- Vogel, Florian;
- Alhashem, Amal M.;
- Alanzi, Talal S.A.;
- Tabarki, Brahim;
- Kampe, Kapil;
- Kandaswamy, Krishna K.;
- Werber, Martin;
- Bertoli‐Avella, Aida M.;
- Beetz, Christian;
- Rolfs, Arndt;
- Bauer, Peter
Publication type:
Article
Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder.
Published in:
European Journal of Human Genetics, 2010, v. 18, n. 2, p. 206, doi. 10.1038/ejhg.2009.148
By:
- Vegt, Rinus;
- Bertoli-Avella, Aida M.;
- Tulen, Joke H. M.;
- de Graaf, Bianca;
- Verkerk, Annemieke J. M. H.;
- Vervoort, Jeroen;
- Twigt, Carla M.;
- Maat-Kievit, Anneke;
- van Tuijl, Ruud;
- van der Lijn, Marieke;
- Hengeveld, Michiel W.;
- Oostra, Ben A.
Publication type:
Article
A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity.
Published in:
Pediatric Nephrology, 2008, v. 23, n. 4, p. 587, doi. 10.1007/s00467-007-0675-z
By:
- Conte, Maria Luisa;
- Bertoli-Avella, Aida M.;
- de Graaf, Bianca M.;
- Punzo, Francesca;
- Lama, Giuliana;
- La Manna, Angela;
- Grassia, Carolina;
- Rambaldi, Pier Francesco;
- Oostra, Ben A.;
- Perrotta, Silverio
Publication type:
Article
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
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
Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 5, p. 389, doi. 10.1038/sj.ejhg.5201161
By:
- Croes, Esther A.;
- Alizadeh, Behrooz Z.;
- Bertoli-Avella, Aida M.;
- Rademaker, Tessa;
- Vergeer-Drop, Jeannette;
- Dermaut, Bart;
- Houwing-Duistermaat, Jeanine J.;
- Wientjens, Dorothee P. W. M.;
- Hofman, Albert;
- Van Broeckhoven, Christine;
- van Duijn, Cornelia M.
Publication type:
Article
Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.
Published in:
2011
By:
- Punzo, Francesca;
- Bertoli-Avella, Aida M;
- Scianguetta, Saverio;
- Della Ragione, Fulvio;
- Casale, Maddalena;
- Ronzoni, Luisa;
- Cappellini, Maria D;
- Forni, Gianluca;
- Oostra, Ben A;
- Perrotta, Silverio
Publication type:
journal article
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
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive Families.
Published in:
Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00425
By:
- Greenbaum, Lior;
- Pode-Shakked, Ben;
- Eisenberg-Barzilai, Shlomit;
- Dicastro-Keidar, Michal;
- Bar-Ziv, Anat;
- Goldstein, Nurit;
- Reznik-Wolf, Haike;
- Poran, Hana;
- Rigbi, Amihai;
- Barel, Ortal;
- Bertoli-Avella, Aida M.;
- Bauer, Peter;
- Regev, Miriam;
- Raas-Rothschild, Annick;
- Pras, Elon;
- Berkenstadt, Michal
Publication type:
Article
Spectrum of FAR1 (Fatty Acyl‐CoA Reductase 1) Variants and Related Neurological Conditions.
Published in:
Movement Disorders, 2023, v. 38, n. 3, p. 502, doi. 10.1002/mds.29323
By:
- Westenberger, Ana;
- Ruiz‐Herrera, Adriana;
- Bozdoğan, Sevcan;
- Bisgin, Atil;
- Almuqbil, Mohammed;
- Alhashem, Amal;
- Alanzi, Talal;
- Romito, Antonio;
- Rolfs, Arndt;
- Dias, Patricia;
- Gouveia Silva, Raquel;
- Bertoli‐Avella, Aida M.;
- Bauer, Peter;
- Beetz, Christian
Publication type:
Article
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
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