1987 …2020

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2020

ALK-negative anaplastic large cell lymphoma with “Hodgkin-like” cytomorphology and nuclear expression of PAX5

Fratoni, S., Niscola, P., Zhao, X. F., Larocca, L. M., Capalbo, A., Fabbretti, M., Bernardini, L. & Abruzzese, E., Feb 2020, In : Pathology Research and Practice. 216, 2, 152724.

Research output: Contribution to journalArticle

2019

A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1

Giuffrida, M. G., Mastromoro, G., Guida, V., Truglio, M., Fabbretti, M., Torres, B., Mazza, T., De Luca, A., Roggini, M., Bernardini, L. & Pizzuti, A., Jan 1 2019, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes

Sinibaldi, L., Parisi, V., Lanciotti, S., Fontana, P., Kuechler, A., Baujat, G., Torres, B., Koetting, J., Splendiani, A., Postorivo, D., Beygo, J., Garaci, F. G., Malan, V., Lüdecke, H-J., Guida, V., Krumbiegel, M., Lonardo, F., Novelli, A., Albrecht, B., Perria, C. & 6 others, Scarano, G., Spielmann, M., Nardone, A. M., Battaglia, A., Brancati, F. & Bernardini, L., 2019, In : Clinical Genetics.

Research output: Contribution to journalArticle

Delineation of MidXq28-Duplication Syndrome Distal to MECP2 and Proximal to RAB39B genes

Sinibaldi, L., Parisi, V., Lanciotti, S., Fontana, P., Kuechler, A., Baujat, G., Torres, B., Koetting, J., Splendiani, A., Postorivo, D., Beygo, J., Garaci, F. G., Malan, V., Hermann-Josef-Lüdecke, Guida, V., Krumbiegel, M., Lonardo, F., Novelli, A., Albrecht, B., Perria, C. & 6 others, Scarano, G., Spielmann, M., Nardone, A., Battaglia, A., Brancati, F. & Bernardini, L., May 15 2019, In : Clinical Genetics.

Research output: Contribution to journalArticle

Epilepsy phenotype in patients with Xp22.31 microduplication

Brinciotti, M., Fioriello, F., Mittica, A., Bernardini, L., Goldoni, M. & Matricardi, M., Jan 1 2019, In : Epilepsy and Behavior Case Reports. 11, p. 31-34 4 p.

Research output: Contribution to journalArticle

Generation of induced pluripotent stem cell line CSSi008-A (4698) from a patient affected by advanced stage of Dentato-Rubral-Pallidoluysian atrophy (DRPLA)

Bidollari, E., Rotundo, G., Altieri, F., Amicucci, M., Wiquel, D., Ferrari, D., Goldoni, M., Bernardini, L., Consoli, F., De Luca, A., Fanelli, S., Lamorte, G., D'Agruma, L., Vescovi, A. L., Squitieri, F. & Rosati, J., Oct 1 2019, In : Stem Cell Research. 40, 101551.

Research output: Contribution to journalArticle

Open Access

Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation

Traversa, A., Bernardo, S., Paiardini, A., Giovannetti, A., Marchionni, E., Genovesi, M. L., Guadagnolo, D., Torres, B., Paolacci, S., Bernardini, L., Mazza, T., Carella, M., Caputo, V. & Pizzuti, A., Jan 1 2019, (Accepted/In press) In : Molecular Genetics and Genomic Medicine. e1054.

Research output: Contribution to journalArticle

Open Access

Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome

Altieri, F., D'Anzi, A., Martello, F., Tardivo, S., Spasari, I., Ferrari, D., Bernardini, L., Lamorte, G., Mazzoccoli, G., Valente, E. M., Vescovi, A. L. & Rosati, J., Jul 1 2019, In : Stem Cell Research. 38, 101480.

Research output: Contribution to journalArticle

Open Access

Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome

Altieri, F., D'Anzi, A., Martello, F., Tardivo, S., Spasari, I., Ferrari, D., Bernardini, L., Lamorte, G., Mazzoccoli, G., Valente, E. M., Vescovi, A. L. & Rosati, J., Jul 2019, In : Stem Cell Research. 38, p. 101480

Research output: Contribution to journalArticle

Pruritus characteristics in a large Italian cohort of psoriatic patients

Psocare Registry Network, Jul 1 2019, In : Journal of the European Academy of Dermatology and Venereology. 33, 7, p. 1316-1324 9 p.

Research output: Contribution to journalArticle

Results from Phase I Clinical Trial with Intraspinal Injection of Neural Stem Cells in Amyotrophic Lateral Sclerosis: A Long-Term Outcome

on behalf of the ALS-NSCs Trial Study Group, Jan 1 2019, In : Stem cells translational medicine.

Research output: Contribution to journalArticle

Open Access

Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings

Mastromoro, G., Capalbo, A., Guido, C. A., Torres, B., Fabbretti, M., Traversa, A., Giancotti, A., Ventriglia, F., Bernardini, L., Spalice, A. & Pizzuti, A., Jan 1 2019, (Accepted/In press) In : European Journal of Medical Genetics. 103772.

Research output: Contribution to journalArticle

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

Hijazi, H., Coelho, F. S., Gonzaga-Jauregui, C., Bernardini, L., Mar, S. S., Manning, M. A., Hanson-Kahn, A., Naidu, S. B., Srivastava, S., Lee, J. A., Jones, J. R., Friez, M. J., Alberico, T., Torres, B., Fang, P., Cheung, S. W., Song, X., Davis-Williams, A., Jornlin, C., Wight, P. A. & 9 others, Patyal, P., Taube, J., Poretti, A., Inoue, K., Zhang, F., Pehlivan, D., Carvalho, C. M. B., Hobson, G. M. & Lupski, J. R., Jan 1 2019, (Accepted/In press) In : Human Mutation.

Research output: Contribution to journalArticle

2018

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations

Ritelli, M., Morlino, S., Giacopuzzi, E., Bernardini, L., Torres, B., Santoro, G., Ravasio, V., Chiarelli, N., D'Angelantonio, D., Novelli, A., Grammatico, P., Colombi, M. & Castori, M., Jan 1 2018, In : Clinical Genetics. 93, 1, p. 126-133 8 p.

Research output: Contribution to journalArticle

Atypical Post-Injection Reactions with Delayed Onset Following Glatiramer Acetate 40 mg: Need for Titration?

Zecca, C., Bellavia, G., Brambilla, L., Gutierrez, L. P., Gerardi, C., Fiori, A. M., Bernardini, L. R., Camera, G., Disanto, G., Petrini, L., Perugini, J., Antozzi, C. G., Torri Clerici, V., Bellino, A., Confalonieri, P. A., Gobbi, C., Mantegazza, R. E. & Rossi, S., Jul 2018, In : CNS Drugs. 32, 7, p. 653-660 8 p.

Research output: Contribution to journalArticle

Copy number variations in healthy subjects. Case study: iPSC line CSSi005-A (3544) production from an individual with variation in 15q13.3 chromosome duplicating gene CHRNA7

Turco, E. M., Vinci, E., Altieri, F., Ferrari, D., Torres, B., Goldoni, M., Lamorte, G., Tata, A. M., Mazzoccoli, G., Postorivo, D., Della Monica, M., Bernardini, L., Vescovi, A. L. & Rosati, J., Oct 1 2018, In : Stem Cell Research. 32, p. 73-77 5 p.

Research output: Contribution to journalArticle

Establishment of stable iPS-derived human neural stem cell lines suitable for cell therapies

Rosati, J., Ferrari, D., Altieri, F., Tardivo, S., Ricciolini, C., Fusilli, C., Zalfa, C., Profico, D. C., Pinos, F., Bernardini, L., Torres, B., Manni, I., Piaggio, G., Binda, E., Copetti, M., Lamorte, G., Mazza, T., Carella, M., Gelati, M., Valente, E. M. & 2 others, Simeone, A. & Vescovi, A. L., Oct 1 2018, In : Cell Death and Disease. 9, 10, 937.

Research output: Contribution to journalArticle

Further delineation of Malan syndrome

Priolo, M., Schanze, D., Tatton-Brown, K., Mulder, P. A., Tenorio, J., Kooblall, K., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., González, N. G. & 34 others, Huber, I., Iascone, M., Kaiser, A. S., Kamath, A., Liebelt, J., Lynch, S. A., Maas, S. M., Mammì, C., Mathijssen, I. B., McKee, S., Menke, L. A., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Valdez, R. M., Van Haeringen, A., Van Hagen, J. M., Zollino, M., Lapunzina, P., Thakker, R. V., Zenker, M. & Hennekam, R. C., Sep 1 2018, In : Human Mutation. 39, 9, p. 1226-1237 12 p.

Research output: Contribution to journalArticle

Generation of induced pluripotent stem cell line, CSSi002-A (2851), from a patient with juvenile Huntington Disease

Rosati, J., Bidollari, E., Rotundo, G., Ferrari, D., Torres, B., Bernardini, L., Consoli, F., De Luca, A., Santimone, I., Lamorte, G., Squitieri, F. & Vescovi, A. L., Mar 1 2018, In : Stem Cell Research. 27, p. 86-89 4 p.

Research output: Contribution to journalArticle

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Faundes, V., Newman, W. G., Bernardini, L., Canham, N., Clayton-Smith, J., Dallapiccola, B., Davies, S. J., Demos, M. K., Goldman, A., Gill, H., Horton, R., Kerr, B., Kumar, D., Lehman, A., McKee, S., Morton, J., Parker, M. J., Rankin, J., Robertson, L., Temple, I. K. & 1 others, Banka, S., Jan 4 2018, In : American Journal of Human Genetics. 102, 1, p. 175-187 13 p.

Research output: Contribution to journalArticle

Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome

Altieri, F., Turco, E. M., Vinci, E., Torres, B., Ferrari, D., De Jaco, A., Mazzoccoli, G., Lamorte, G., Nardone, A., Della Monica, M., Bernardini, L., Vescovi, A. L. & Rosati, J., Apr 1 2018, In : Stem Cell Research. 28, p. 153-156 4 p.

Research output: Contribution to journalArticle

Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)

Rosati, J., Altieri, F., Tardivo, S., Turco, E. M., Goldoni, M., Spasari, I., Ferrari, D., Bernardini, L., Lamorte, G., Valente, E. M. & Vescovi, A. L., Mar 2018, In : Stem Cell Research. 27, p. 74-77 4 p.

Research output: Contribution to journalArticle

Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)

Rosati, J., Altieri, F., Tardivo, S., Turco, E. M., Goldoni, M., Spasari, I., Ferrari, D., Bernardini, L., Lamorte, G., Valente, E. M. & Vescovi, A. L., Mar 1 2018, In : Stem Cell Research. 27, p. 74-77 4 p.

Research output: Contribution to journalArticle

Small 4p16.3 deletions: Three additional patients and review of the literature

Bernardini, L., Radio, F. C., Acquaviva, F., Gorgone, C., Postorivo, D., Torres, B., Alesi, V., Magliozzi, M., Lonardo, F., Monica, M. D., Nardone, A. M., Cesario, C., Mattina, T., Scarano, G., Dallapiccola, B., Digilio, M. C. & Novelli, A., Sep 23 2018, In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

Small 4p16.3 deletions: Three additional patients and review of the literature

Bernardini, L., Radio, F. C., Acquaviva, F., Gorgone, C., Postorivo, D., Torres, B., Alesi, V., Magliozzi, M., Lonardo, F., Monica, M. D., Nardone, A. M., Cesario, C., Mattina, T., Scarano, G., Dallapiccola, B., Digilio, M. C. & Novelli, A., 2018, In : American Journal of Medical Genetics, Part A. 176, 11, p. 2501-2508 8 p.

Research output: Contribution to journalArticle

2017

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Cuvertino, S., Stuart, H. M., Chandler, K. E., Roberts, N. A., Armstrong, R., Bernardini, L., Bhaskar, S., Callewaert, B., Clayton-Smith, J., Davalillo, C. H., Deshpande, C., Devriendt, K., Digilio, M. C., Dixit, A., Edwards, M., Friedman, J. M., Gonzalez-Meneses, A., Joss, S., Kerr, B., Lampe, A. K. & 21 others, Langlois, S., Lennon, R., Loget, P., Ma, D. Y. T., McGowan, R., Des Medt, M., O'Sullivan, J., Odent, S., Parker, M. J., Pebrel-Richard, C., Petit, F., Stark, Z., Stockler-Ipsiroglu, S., Tinschert, S., Vasudevan, P., Villa, O., White, S. M., Zahir, F. R., Woolf, A. S., Banka, S. & Study, T. DDD., Dec 7 2017, In : American Journal of Human Genetics. 101, 6, p. 1021-1033 13 p.

Research output: Contribution to journalArticle

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Cuvertino, S., Stuart, H. M., Chandler, K. E., Roberts, N. A., Armstrong, R., Bernardini, L., Bhaskar, S., Callewaert, B., Clayton-Smith, J., Davalillo, C. H., Deshpande, C., Devriendt, K., Digilio, M. C., Dixit, A., Edwards, M., Friedman, J. M., Gonzalez-Meneses, A., Joss, S., Kerr, B., Lampe, A. K. & 21 others, Langlois, S., Lennon, R., Loget, P., Ma, D. Y. T., McGowan, R., Des Medt, M., O'Sullivan, J., Odent, S., Parker, M. J., Pebrel-Richard, C., Petit, F., Stark, Z., Stockler-Ipsiroglu, S., Tinschert, S., Vasudevan, P., Villa, O., White, S. M., Zahir, F. R., Woolf, A. S., Banka, S. & The DDD Study, Dec 7 2017, In : American Journal of Human Genetics. 101, 6, p. 1021-1033 13 p.

Research output: Contribution to journalArticle

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations

Ritelli, M., Morlino, S., Giacopuzzi, E., Bernardini, L., Torres, B., Santoro, G., Ravasio, V., Chiarelli, N., D'Angelantonio, D., Novelli, A., Grammatico, P., Colombi, M. & Castori, M., Aug 21 2017, In : Clinical Genetics. 93, 1, p. 126-133 8 p.

Research output: Contribution to journalArticle

haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Le Tanno, P., Breton, J., Bidart, M., Satre, V., Harbuz, R., Ray, P. F., Bosson, C., Dieterich, K., Jaillard, S., Odent, S., Poke, G., Beddow, R., Digilio, M. C., Novelli, A., Bernardini, L., Pisanti, M. A., Mackenroth, L., Hackmann, K., Vogel, I., Christensen, R. & 10 others, Fokstuen, S., Béna, F., Amblard, F., Devillard, F., Vieville, G., Apostolou, A., Jouk, P-S., Guebre-Egziabher, F., Sartelet, H. & Coutton, C., Jul 2017, In : Journal of Medical Genetics. 54, 7, p. 502-510 9 p.

Research output: Contribution to journalArticle

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Study, Dec 21 2017, In : American Journal of Human Genetics. 102, 1, p. 175-187 13 p.

Research output: Contribution to journalArticle

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

Tanno, P. L., Breton, J., Bidart, M., Satre, V., Harbuz, R., Ray, P. F., Bosson, C., Dieterich, K., Jaillard, S., Odent, S., Poke, G., Beddow, R., Digilio, M. C., Novelli, A., Bernardini, L., Pisanti, M. A., Mackenroth, L., Hackmann, K., Vogel, I., Christensen, R. & 10 others, Fokstuen, S., Béna, F., Amblard, F., Devillard, F., Vieville, G., Apostolou, A., Jouk, P. S., Guebre-Egziabher, F., Sartelet, H. & Coutton, C., Jul 1 2017, In : Journal of Medical Genetics. 54, 7, p. 502-510 9 p.

Research output: Contribution to journalArticle

2016

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

Loviglio, M. N., Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., Roberts-Caldeira, I., Gheldof, N., Migliavacca, E., Alfaiz, A. A., Hippolyte, L., Maillard, A. M., Van Dijck, A., Frank Kooy, R., Sanlaville, D., Rosenfeld, J. A., Shaffer, L. G., Andrieux, J. & 16 others, Marshall, J. C., Scherer, S. W., Shen, Y., Gusella, J. F., Thorsteinsdottir, U., Thorleifsson, G., Dermitzakis, E. T., Deplancke, B., Beckmann, J. S., Rougemont, J., Jacquemont, S., Reymond, A., 2p15 Consortium, Merla, G., Micale, L. & Bernardini, L., 2016, In : Molecular Psychiatry.

Research output: Contribution to journalArticle

Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement

Laino, L., Bottillo, I., Piedimonte, C., Bernardini, L., Torres, B., Grammatico, B., Bargiacchi, S., Mulargia, C., Calvani, M., Cardona, F., Castori, M. & Grammatico, P., Apr 18 2016, (Accepted/In press) In : European Journal of Paediatric Neurology.

Research output: Contribution to journalArticle

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, M. L., Cordelli, D. M., Arrigo, T., Franzoni, E., Fini, S., Italyankina, E., Loddo, I., Novelli, A. & Graziano, C., Jan 1 2016, In : American Journal of Medical Genetics, Part A. 170, 1, p. 162-169 8 p.

Research output: Contribution to journalArticle

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, M. L., Cordelli, D. M., Arrigo, T., Franzoni, E., Fini, S., Italyankina, E., Loddo, I., Novelli, A. & Graziano, C., Jan 1 2016, In : American Journal of Medical Genetics, Part A. 170, 1, p. 162-169 8 p.

Research output: Contribution to journalArticle

Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome

Battaglia, A., Bernardini, L., Torrente, I., Novelli, A. & Scarselli, G., Oct 2016, In : American Journal of Medical Genetics, Part A. 170, 10, p. 2531-9 9 p.

Research output: Contribution to journalArticle

Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome

Battaglia, A., Bernardini, L., Torrente, I., Novelli, A. & Scarselli, G., 2016, (Accepted/In press) In : American Journal of Medical Genetics, Part A.

Research output: Contribution to journalArticle

2015

A de novo 0.63Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity

Salpietro, V., Ruggieri, M., Mankad, K., Di Rosa, G., Granata, F., Loddo, I., Moschella, E., Calabro, M. P., Capalbo, A., Bernardini, L., Novelli, A., Polizzi, A., Seidler, D. G., Arrigo, T. & Briuglia, S., Sep 1 2015, In : American Journal of Medical Genetics, Part A. 167, 9, p. 2042-2051 10 p.

Research output: Contribution to journalArticle

A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum

Guida, V., Sinibaldi, L., Pagnoni, M., Bernardini, L., Loddo, S., Margiotti, K., Digilio, M. C., Fadda, M. T., Dallapiccola, B., Iannetti, G. & Alessandro, D. L., Apr 1 2015, In : American Journal of Medical Genetics, Part A. 167, 4, p. 797-801 5 p.

Research output: Contribution to journalArticle

Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1

Nicita, F., Ulgiati, F., Bernardini, L., Garone, G., Papetti, L., Novelli, A. & Spalice, A., May 1 2015, In : Annals of Human Genetics. 79, 3, p. 209-217 9 p.

Research output: Contribution to journalArticle

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3

Tokita, M. J., Chow, P. M., Mirzaa, G., Dikow, N., Maas, B., Isidor, B., Le Caignec, C., Penney, L. S., Mazzotta, G., Bernardini, L., Filippi, T., Battaglia, A., Donti, E., Earl, D. & Prontera, P., Jun 15 2015, In : European Journal of Human Genetics. 23, 6, p. 761-765 5 p.

Research output: Contribution to journalArticle

Human neural stem cell transplantation in ALS: Initial results from a phase I trial

Mazzini, L., Gelati, M., Profico, D. C., Sgaravizzi, G., Projetti Pensi, M., Muzi, G., Ricciolini, C., Rota Nodari, L., Carletti, S., Giorgi, C., Spera, C., Domenico, F., Bersano, E., Petruzzelli, F., Cisari, C., Maglione, A., Sarnelli, M. F., Stecco, A., Querin, G., Masiero, S. & 21 others, Cantello, R., Ferrari, D., Zalfa, C., Binda, E., Visioli, A., Trombetta, D., Novelli, A., Torres, B., Bernardini, L., Carriero, A., Prandi, P., Servo, S., Cerino, A., Cima, V., Gaiani, A., Nasuelli, N., Massara, M., Glass, J., Sorarù, G., Boulis, N. M. & Vescovi, A. L., Jan 27 2015, In : Journal of Translational Medicine. 13, 1, 17.

Research output: Contribution to journalArticle

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion

Chatron, N., Haddad, V., Andrieux, J., Désir, J., Boute, O., Dieux, A., Baumann, C., Drunat, S., Gérard, M., Bonnet, C., Leheup, B., Till, M., Rossi, M., Flori, E., Alembik, Y., Stewart, H., Mcparland, J., Bernardini, L., Castelluccio, P., Roos, L. & 11 others, Tümer, Z., Fagan, K., Hackett, A., Bain, N., van Haeringen, A., Ruivenkamp, C., Benzacken, B., Sanlaville, D., Edery, P., Aboura, A. & Schluth-Bolard, C., May 1 2015, In : American Journal of Medical Genetics, Part A. 167, 5, p. 1008-1017 10 p.

Research output: Contribution to journalArticle

2014

17p13.1 microdeletion: Genetic and clinical findings in a new patient with epilepsy and comparison with literature

Giordano, L., Palestra, F., Giuffrida Maria, G., Molinaro, A., Iodice, A., Bernardini, L., La Boria, P., Accorsi, P. & Novelli, A., Jan 2014, In : American Journal of Medical Genetics, Part A. 164, 1, p. 225-230 6 p.

Research output: Contribution to journalArticle

Chromosomal microarray as first-tier approach in low-risk pregnancies: Detection rate should not be the only criterion for its application

Baroncini, A., Sinibaldi, L., Bernardini, L., Cavalli, P., Faravelli, F., Gentile, M., Lituania, M., Volpe, P., Camurri, L., Novelli, A. & Dallapiccola, B., Mar 2014, In : Ultrasound in Obstetrics and Gynecology. 43, 3, p. 357-358 2 p.

Research output: Contribution to journalArticle