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Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.
Published in:
Clinical Genetics, 2018, v. 93, n. 3, p. 545, doi. 10.1111/cge.13060
By:
- Vetro, A.;
- Goidin, D.;
- Lesende, I.;
- Limongelli, I.;
- Ranzani, G. N.;
- Novara, F.;
- Bonaglia, M. C.;
- Rinaldi, B.;
- Franchi, F.;
- Manolakos, E.;
- Lonardo, F.;
- Scarano, F.;
- Scarano, G.;
- Costantino, L.;
- Tedeschi, S.;
- Giglio, S.;
- Zuffardi, O.
Publication type:
Article
SNORD116 deletions cause Prader-Willi syndrome with a mild phenotype and macrocephaly.
Published in:
Clinical Genetics, 2017, v. 92, n. 4, p. 440, doi. 10.1111/cge.13005
By:
- Fontana, P.;
- Grasso, M.;
- Acquaviva, F.;
- Gennaro, E.;
- Galli, M.L.;
- Falco, M.;
- Scarano, F.;
- Scarano, G.;
- Lonardo, F.
Publication type:
Article
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
Published in:
Clinical Genetics, 2015, v. 88, n. 5, p. 431, doi. 10.1111/cge.12537
By:
- Spena, S.;
- Milani, D.;
- Rusconi, D.;
- Negri, G.;
- Colapietro, P.;
- Elcioglu, N.;
- Bedeschi, F.;
- Pilotta, A.;
- Spaccini, L.;
- Ficcadenti, A.;
- Magnani, C.;
- Scarano, G.;
- Selicorni, A.;
- Larizza, L.;
- Gervasini, C.
Publication type:
Article
Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
Published in:
Clinical Genetics, 2015, v. 87, n. 2, p. 148, doi. 10.1111/cge.12348
By:
- Negri, G.;
- Milani, D.;
- Colapietro, P.;
- Forzano, F.;
- Della Monica, M.;
- Rusconi, D.;
- Consonni, L.;
- Caffi, L. G.;
- Finelli, P.;
- Scarano, G.;
- Magnani, C.;
- Selicorni, A.;
- Spena, S.;
- Larizza, L.;
- Gervasini, C.
Publication type:
Article
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.
Published in:
Clinical Genetics, 2007, v. 72, n. 2, p. 98, doi. 10.1111/j.1399-0004.2007.00832.x
By:
- Selicorni, A.;
- Russo, S.;
- Gervasini, C.;
- Castronovo, P.;
- Milani, D.;
- Cavalleri, F.;
- Bentivegna, A.;
- Masciadri, M.;
- Domi, A.;
- Divizia, M. T.;
- Sforzini, C.;
- Tarantino, E.;
- Memo, L.;
- Scarano, G.;
- Larizza, L.
Publication type:
Article
Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks of gestation.
Published in:
Prenatal Diagnosis, 1994, v. 14, n. 6, p. 502, doi. 10.1002/pd.1970140616
By:
- Capece, G.;
- Fasolino, A.;
- Monica, M. Della;
- Lonardo, F.;
- Scarano, G.;
- Neri, G.
Publication type:
Article
Prenatal diagnosis of severe structural congenital malformations in Europe.
Published in:
2005
By:
- Garne, E.;
- Loane, M.;
- Dolk, H.;
- de Vigan, C.;
- Scarano, G.;
- Tucker, D.;
- Stoll, C.;
- Genertt, B.;
- Pierinitt, A.;
- Nelen, V.;
- Rösch, C.;
- Gillero, Y.;
- Feijoo, M.;
- Tincheva, R.;
- Queisser-Luf, A.;
- Addor, M.-C.;
- Mosquera, C.;
- Gatt, M.;
- Barisicu, I.;
- Gener, B
Publication type:
journal article
Say‐Barber‐Biesecker‐Young‐Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?
Published in:
Clinical Genetics, 2019, v. 95, n. 2, p. 253, doi. 10.1111/cge.13127
By:
- Lonardo, F.;
- Lonardo, M.S.;
- Acquaviva, F.;
- Della Monica, M.;
- Scarano, F.;
- Scarano, G.
Publication type:
Article
WNT4 deficiency—a clinical phenotype distinct from the classic Mayer–Rokitansky–Kuster–Hauser syndrome: A Case Report.
Published in:
Human Reproduction, 2007, v. 22, n. 1, p. 224, doi. 10.1093/humrep/del360
By:
- A. Biason-Lauber;
- G. De Filippo;
- D. Konrad;
- G. Scarano;
- A. Nazzaro;
- E.J. Schoenle
Publication type:
Article
Kounis Syndrome as First Manifestation of Allergic Sensitization.
Published in:
Case Reports in Medicine, 2019, p. 1, doi. 10.1155/2019/6317956
By:
- Forlani, D.;
- Scarano, G.;
- D'Alleva, A.;
- Di Marco, M.;
- Paloscia, L.;
- Gatta, A.;
- Della Valle, L.;
- Farinelli, A.;
- Lumaca, A.;
- Petrarca, C.;
- Paganelli, R.;
- Di Giampaolo, L.;
- Di Gioacchino, M.
Publication type:
Article
Abnormal B.A.E.P. in a family with Moebius syndrome: evidence for supranuclear lesion.
Published in:
Clinical Genetics, 1984, v. 25, n. 5, p. 459, doi. 10.1111/j.1399-0004.1984.tb02017.x
By:
- Stabile, M.;
- Cavaliere, M. L.;
- Scarano, G.;
- Fels, A.;
- Valianl, R.;
- Ventruto, V.
Publication type:
Article

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