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Items: 43

1.

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Péron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan JA, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page MJ, Boesch S, Wortmann SB, Kopajtich R, Stong N, Sperl W, Davis E, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V.

J Clin Invest. 2019 Sep 24. pii: 128514. doi: 10.1172/JCI128514. [Epub ahead of print]

2.

Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.

Magini P, Smits DJ, Vandervore L, Schot R, Columbaro M, Kasteleijn E, van der Ent M, Palombo F, Lequin MH, Dremmen M, de Wit MCY, Severino M, Divizia MT, Striano P, Ordonez-Herrera N, Alhashem A, Al Fares A, Al Ghamdi M, Rolfs A, Bauer P, Demmers J, Verheijen FW, Wilke M, van Slegtenhorst M, van der Spek PJ, Seri M, Jansen AC, Stottmann RW, Hufnagel RB, Hopkin RJ, Aljeaid D, Wiszniewski W, Gawlinski P, Laure-Kamionowska M, Alkuraya FS, Akleh H, Stanley V, Musaev D, Gleeson JG, Zaki MS, Brunetti-Pierri N, Cappuccio G, Davidov B, Basel-Salmon L, Bazak L, Shahar NR, Bertoli-Avella A, Mirzaa GM, Dobyns WB, Pippucci T, Fornerod M, Mancini GMS.

Am J Hum Genet. 2019 Oct 3;105(4):689-705. doi: 10.1016/j.ajhg.2019.08.006. Epub 2019 Sep 5.

PMID:
31495489
3.

P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9.

Magini P, Marco-Marin C, Escamilla-Honrubia JM, Martinelli D, Dionisi-Vici C, Faravelli F, Forzano F, Seri M, Rubio V, Panza E.

Ann Clin Transl Neurol. 2019 Aug;6(8):1533-1540. doi: 10.1002/acn3.50821. Epub 2019 Jul 19.

4.

Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21.

Pelleri MC, Cicchini E, Petersen MB, Tranebjaerg L, Mattina T, Magini P, Antonaros F, Caracausi M, Vitale L, Locatelli C, Seri M, Strippoli P, Piovesan A, Cocchi G.

Mol Genet Genomic Med. 2019 Aug;7(8):e797. doi: 10.1002/mgg3.797. Epub 2019 Jun 25.

5.

Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders.

Magini P, Scarano E, Donati I, Sensi A, Mazzanti L, Perri A, Tamburrino F, Mongelli P, Percesepe A, Visconti P, Parmeggiani A, Seri M, Graziano C.

Gene. 2019 Jul 20;706:162-171. doi: 10.1016/j.gene.2019.05.007. Epub 2019 May 11.

PMID:
31085274
6.
7.

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.

Negri G, Magini P, Milani D, Crippa M, Biamino E, Piccione M, Sotgiu S, Perrìa C, Vitiello G, Frontali M, Boni A, Di Fede E, Gandini MC, Colombo EA, Bamshad MJ, Nickerson DA, Smith JD, Loddo I, Finelli P, Seri M, Pippucci T, Larizza L, Gervasini C.

Hum Genet. 2019 Mar;138(3):257-269. doi: 10.1007/s00439-019-01985-y. Epub 2019 Feb 26.

8.

A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disability.

Kashevarova AA, Nazarenko LP, Skryabin NA, Nikitina TV, Vasilyev SA, Tolmacheva EN, Lopatkina ME, Salyukova OA, Chechetkina NN, Vorotelyak EA, Kalabusheva EP, Fishman VS, Kzhyshkowska J, Graziano C, Magini P, Romeo G, Lebedev IN.

Am J Med Genet A. 2018 Nov;176(11):2395-2403. doi: 10.1002/ajmg.a.40478. Epub 2018 Sep 23.

PMID:
30244536
9.

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S.

Hum Mol Genet. 2017 Oct 1;26(19):3868. doi: 10.1093/hmg/ddx225. No abstract available.

10.

Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force.

Rinaldi B, Vaisfeld A, Amarri S, Baldo C, Gobbi G, Magini P, Melli E, Neri G, Novara F, Pippucci T, Rizzi R, Soresina A, Zampini L, Zuffardi O, Crimi M.

Orphanet J Rare Dis. 2017 Apr 11;12(1):69. doi: 10.1186/s13023-017-0606-4. Review.

11.

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.

Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics, Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR.

Am J Hum Genet. 2016 Oct 6;99(4):831-845. doi: 10.1016/j.ajhg.2016.08.007. Epub 2016 Sep 15.

12.

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

Magini P, Palombo F, Boito S, Lanzoni G, Mongelli P, Rizzuti T, Baccarin M, Pippucci T, Seri M, Lalatta F.

Am J Med Genet A. 2016 Dec;170(12):3258-3264. doi: 10.1002/ajmg.a.37873. Epub 2016 Sep 9.

PMID:
27612164
13.

From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.

Negri G, Magini P, Milani D, Colapietro P, Rusconi D, Scarano E, Bonati MT, Priolo M, Crippa M, Mazzanti L, Wischmeijer A, Tamburrino F, Pippucci T, Finelli P, Larizza L, Gervasini C.

Hum Mutat. 2016 Feb;37(2):175-83. doi: 10.1002/humu.22922. Epub 2015 Nov 4.

PMID:
26486927
14.

New patients with Temple syndrome caused by 14q32 deletion: Genotype-phenotype correlations and risk of thyroid cancer.

Severi G, Bernardini L, Briuglia S, Bigoni S, Buldrini B, Magini P, Dentici ML, Cordelli DM, Arrigo T, Franzoni E, Fini S, Italyankina E, Loddo I, Novelli A, Graziano C.

Am J Med Genet A. 2016 Jan;170A(1):162-9. doi: 10.1002/ajmg.a.37346. Epub 2015 Sep 3.

PMID:
26333654
15.

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.

Magini P, Poscente M, Ferrari S, Vargiolu M, Bacchelli E, Graziano C, Wischmeijer A, Turchetti D, Malaspina E, Marchiani V, Cordelli DM, Franzoni E, Romeo G, Seri M.

Mol Cytogenet. 2015 Aug 1;8:58. doi: 10.1186/s13039-015-0164-1. eCollection 2015.

16.

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.

Pippucci T, Maresca A, Magini P, Cenacchi G, Donadio V, Palombo F, Papa V, Incensi A, Gasparre G, Valentino ML, Preziuso C, Pisano A, Ragno M, Liguori R, Giordano C, Tonon C, Lodi R, Parmeggiani A, Carelli V, Seri M.

EMBO Mol Med. 2015 Jun;7(6):848-58. doi: 10.15252/emmm.201404399.

17.

Messenger RNA processing is altered in autosomal dominant leukodystrophy.

Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S.

Hum Mol Genet. 2015 May 15;24(10):2746-56. doi: 10.1093/hmg/ddv034. Epub 2015 Jan 30. Erratum in: Hum Mol Genet. 2017 Oct 1;26(19):3868.

18.

Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability.

Kashevarova AA, Nazarenko LP, Schultz-Pedersen S, Skryabin NA, Salyukova OA, Chechetkina NN, Tolmacheva EN, Rudko AA, Magini P, Graziano C, Romeo G, Joss S, Tümer Z, Lebedev IN.

Mol Cytogenet. 2014 Dec 31;7(1):97. doi: 10.1186/s13039-014-0097-0. eCollection 2014.

19.

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.

Kuechler A, Zink AM, Wieland T, Lüdecke HJ, Cremer K, Salviati L, Magini P, Najafi K, Zweier C, Czeschik JC, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi M, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad R, Schlessinger A, Wieczorek D, Strom TM, Novarino G, Engels H.

Eur J Hum Genet. 2015 Jun;23(6):753-60. doi: 10.1038/ejhg.2014.165. Epub 2014 Aug 20.

20.

Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis.

Caramaschi E, Stanghellini I, Magini P, Giuffrida MG, Scullin S, Giuva T, Bergonzini P, Guerra A, Paolucci P, Percesepe A.

Ital J Pediatr. 2014 Apr 28;40:39. doi: 10.1186/1824-7288-40-39.

21.

Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.

Noris P, Schlegel N, Klersy C, Heller PG, Civaschi E, Pujol-Moix N, Fabris F, Favier R, Gresele P, Latger-Cannard V, Cuker A, Nurden P, Greinacher A, Cattaneo M, De Candia E, Pecci A, Hurtaud-Roux MF, Glembotsky AC, Muñiz-Diaz E, Randi ML, Trillot N, Bury L, Lecompte T, Marconi C, Savoia A, Balduini CL, Bayart S, Bauters A, Benabdallah-Guedira S, Boehlen F, Borg JY, Bottega R, Bussel J, De Rocco D, de Maistre E, Faleschini M, Falcinelli E, Ferrari S, Ferster A, Fierro T, Fleury D, Fontana P, James C, Lanza F, Le Cam Duchez V, Loffredo G, Magini P, Martin-Coignard D, Menard F, Mercier S, Mezzasoma A, Minuz P, Nichele I, Notarangelo LD, Pippucci T, Podda GM, Pouymayou C, Rigouzzo A, Royer B, Sie P, Siguret V, Trichet C, Tucci A, Saposnik B, Veneri D; European Hematology Association – Scientific Working Group on Thrombocytopenias and Platelet Function Disorders.

Haematologica. 2014 Aug;99(8):1387-94. doi: 10.3324/haematol.2014.105924. Epub 2014 Apr 24.

22.

Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.

Bonora E, Graziano C, Minopoli F, Bacchelli E, Magini P, Diquigiovanni C, Lomartire S, Bianco F, Vargiolu M, Parchi P, Marasco E, Mantovani V, Rampoldi L, Trudu M, Parmeggiani A, Battaglia A, Mazzone L, Tortora G; IMGSAC, Maestrini E, Seri M, Romeo G.

EMBO Mol Med. 2014 Jun;6(6):795-809. doi: 10.1002/emmm.201303235. Epub 2014 Apr 6. Erratum in: EMBO Mol Med. 2014 Dec;6(12):1639.

23.

LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF).

Magini P, Bisulli F, Baldassari S, Stipa C, Naldi I, Licchetta L, Menghi V, Tinuper P, Seri M, Pippucci T.

Epilepsy Res. 2014 Jul;108(5):972-7. doi: 10.1016/j.eplepsyres.2014.03.005. Epub 2014 Mar 26.

PMID:
24721199
24.

Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31.

Bisulli F, Naldi I, Baldassari S, Magini P, Licchetta L, Castegnaro G, Fabbri M, Stipa C, Ferrari S, Seri M, Gonçalves Silva GE, Tinuper P, Pippucci T.

Epilepsia. 2014 Jun;55(6):841-8. doi: 10.1111/epi.12560. Epub 2014 Mar 1.

25.

A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.

Magini P, Pippucci T, Tsai IC, Coppola S, Stellacci E, Bartoletti-Stella A, Turchetti D, Graziano C, Cenacchi G, Neri I, Cordelli DM, Marchiani V, Bergamaschi R, Gasparre G, Neri G, Mazzanti L, Patrizi A, Franzoni E, Romeo G, Bordo D, Tartaglia M, Katsanis N, Seri M.

Hum Mol Genet. 2014 Jul 1;23(13):3607-17. doi: 10.1093/hmg/ddu070. Epub 2014 Feb 19.

PMID:
24556213
26.

9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?

Mucciolo M, Magini P, Marozza A, Mongelli P, Mencarelli MA, Hayek G, Tavalazzi F, Mari F, Seri M, Renieri A, Graziano C.

Am J Med Genet A. 2014 Mar;164A(3):685-90. doi: 10.1002/ajmg.a.36361. Epub 2013 Dec 20.

PMID:
24376033
27.

Array CGH analysis of a cohort of Russian patients with intellectual disability.

Kashevarova AA, Nazarenko LP, Skryabin NA, Salyukova OA, Chechetkina NN, Tolmacheva EN, Sazhenova EA, Magini P, Graziano C, Romeo G, Kučinskas V, Lebedev IN.

Gene. 2014 Feb 15;536(1):145-50. doi: 10.1016/j.gene.2013.11.029. Epub 2013 Nov 27.

PMID:
24291026
28.

EXCAVATOR: detecting copy number variants from whole-exome sequencing data.

Magi A, Tattini L, Cifola I, D'Aurizio R, Benelli M, Mangano E, Battaglia C, Bonora E, Kurg A, Seri M, Magini P, Giusti B, Romeo G, Pippucci T, De Bellis G, Abbate R, Gensini GF.

Genome Biol. 2013;14(10):R120.

29.

[Clinical and genetic analysis of idiopathic intellectual disability based on array comparative genomic hybridization].

Kashevarova AA, Skryabin NA, Cheremnykh AD, Tolmacheva EN, Sazhenova EA, Salyukova OA, Chechetkina NN, Didenko LI, Sukhanova NN, Yakovleva YS, Torkhova NB, Nazarenko LP, Magini P, Graziano C, Romeo G, Lebedev IN.

Zh Nevrol Psikhiatr Im S S Korsakova. 2013;113(9):70-4. Russian.

PMID:
24107884
30.

ANKRD26-related thrombocytopenia and myeloid malignancies.

Noris P, Favier R, Alessi MC, Geddis AE, Kunishima S, Heller PG, Giordano P, Niederhoffer KY, Bussel JB, Podda GM, Vianelli N, Kersseboom R, Pecci A, Gnan C, Marconi C, Auvrignon A, Cohen W, Yu JC, Iguchi A, Miller Imahiyerobo A, Boehlen F, Ghalloussi D, De Rocco D, Magini P, Civaschi E, Biino G, Seri M, Savoia A, Balduini CL.

Blood. 2013 Sep 12;122(11):1987-9. doi: 10.1182/blood-2013-04-499319. No abstract available.

PMID:
24030261
31.

Structural chromosomal abnormalities detected during CVS analysis and their role in the prenatal ascertainment of cryptic subtelomeric rearrangements.

Pittalis MC, Mattarozzi A, Menozzi C, Malacarne M, Baccolini I, Farina A, Pompilii E, Magini P, Percesepe A.

Am J Med Genet A. 2013 Oct;161A(10):2559-63. doi: 10.1002/ajmg.a.36035. Epub 2013 Aug 6.

PMID:
23922197
32.

A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype.

Licchetta L, Pippucci T, Bisulli F, Cantalupo G, Magini P, Alvisi L, Baldassari S, Martinelli P, Naldi I, Vanni N, Liguori R, Seri M, Tinuper P.

Epilepsia. 2013 Jul;54(7):1298-306. doi: 10.1111/epi.12216. Epub 2013 May 11. Erratum in: Epilepsia. 2013 Sep;54(9):1709.

33.

An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum.

Graziano C, David M, Magini P, Superti-Furga A, Seri M.

Am J Med Genet A. 2012 Dec;158A(12):3211-3. doi: 10.1002/ajmg.a.35656. Epub 2012 Nov 19. No abstract available.

PMID:
23165915
34.

Synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome: is PTPN22 involved?

Colina M, Pippucci T, Moro MA, Marconi C, Magini P, Ciancio G, Romeo G, Trotta F, Seri M.

Clin Exp Rheumatol. 2012 May-Jun;30(3):451. Epub 2012 Jun 26. No abstract available.

PMID:
22513164
35.

Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

Magini P, Della Monica M, Uzielli ML, Mongelli P, Scarselli G, Gambineri E, Scarano G, Seri M.

Am J Med Genet A. 2012 Apr;158A(4):917-21. doi: 10.1002/ajmg.a.35265. Epub 2012 Mar 14.

PMID:
22419483
36.

Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletion.

Pradella LM, Zuntini R, Magini P, Ceccarelli C, Neri I, Cerasoli S, Graziano C, Gasparre G, Turchetti D.

J Med Genet. 2011 Nov;48(11):779-82. doi: 10.1136/jmedgenet-2011-100152. Epub 2011 Sep 16.

PMID:
21926107
37.

EX-HOM (EXome HOMozygosity): a proof of principle.

Pippucci T, Benelli M, Magi A, Martelli PL, Magini P, Torricelli F, Casadio R, Seri M, Romeo G.

Hum Hered. 2011;72(1):45-53. doi: 10.1159/000330164. Epub 2011 Aug 18.

38.

Mitochondrial DNA genotyping reveals synchronous nature of simultaneously detected endometrial and ovarian cancers.

Guerra F, Kurelac I, Magini P, Cormio A, Santini D, Ceccarelli C, Gasparre G.

Gynecol Oncol. 2011 Aug;122(2):457-8. doi: 10.1016/j.ygyno.2011.04.036. Epub 2011 May 18.

PMID:
21592547
39.

Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype.

Wischmeijer A, Magini P, Giorda R, Gnoli M, Ciccone R, Cecconi L, Franzoni E, Mazzanti L, Romeo G, Zuffardi O, Seri M.

Mol Syndromol. 2011 Jan;1(4):176-184. Epub 2010 Nov 25.

40.

Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2.

Pippucci T, Savoia A, Perrotta S, Pujol-Moix N, Noris P, Castegnaro G, Pecci A, Gnan C, Punzo F, Marconi C, Gherardi S, Loffredo G, De Rocco D, Scianguetta S, Barozzi S, Magini P, Bozzi V, Dezzani L, Di Stazio M, Ferraro M, Perini G, Seri M, Balduini CL.

Am J Hum Genet. 2011 Jan 7;88(1):115-20. doi: 10.1016/j.ajhg.2010.12.006.

41.

Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.

Giorda R, Bonaglia MC, Beri S, Fichera M, Novara F, Magini P, Urquhart J, Sharkey FH, Zucca C, Grasso R, Marelli S, Castiglia L, Di Benedetto D, Musumeci SA, Vitello GA, Failla P, Reitano S, Avola E, Bisulli F, Tinuper P, Mastrangelo M, Fiocchi I, Spaccini L, Torniero C, Fontana E, Lynch SA, Clayton-Smith J, Black G, Jonveaux P, Leheup B, Seri M, Romano C, dalla Bernardina B, Zuffardi O.

Am J Hum Genet. 2009 Sep;85(3):394-400. doi: 10.1016/j.ajhg.2009.08.001. Epub 2009 Aug 27. Erratum in: Am J Hum Genet. 2009 Sep;85(3):419.

42.

Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation.

Graziano C, Carone S, Panza E, Marino F, Magini P, Romeo G, Pession A, Seri M.

Blood. 2009 Aug 20;114(8):1655-7. doi: 10.1182/blood-2009-04-217851. Epub 2009 Jun 24.

PMID:
19553636
43.

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

De Gregori M, Ciccone R, Magini P, Pramparo T, Gimelli S, Messa J, Novara F, Vetro A, Rossi E, Maraschio P, Bonaglia MC, Anichini C, Ferrero GB, Silengo M, Fazzi E, Zatterale A, Fischetto R, Previderé C, Belli S, Turci A, Calabrese G, Bernardi F, Meneghelli E, Riegel M, Rocchi M, Guerneri S, Lalatta F, Zelante L, Romano C, Fichera M, Mattina T, Arrigo G, Zollino M, Giglio S, Lonardo F, Bonfante A, Ferlini A, Cifuentes F, Van Esch H, Backx L, Schinzel A, Vermeesch JR, Zuffardi O.

J Med Genet. 2007 Dec;44(12):750-62. Epub 2007 Aug 31.

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