Milani D - Search Results

1

DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies.

Kerkhof J, Squeo GM, McConkey H, Levy MA, Piemontese MR, Castori M, Accadia M, Biamino E, Della Monica M, Di Giacomo MC, Gervasini C, Maitz S, Melis D, Milani D, Piccione M, Prontera P, Selicorni A, Sadikovic B, Merla G. Kerkhof J, et al. Among authors: milani d. Genet Med. 2022 Jan;24(1):51-60. doi: 10.1016/j.gim.2021.08.007. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906459 Free article.

2

Biliary atresia and Kabuki syndrome: another case with long-term follow-up.

Selicorni A, Colombo C, Bonato S, Milani D, Giunta AM, Bedeschi MF. Selicorni A, et al. Among authors: milani d. Am J Med Genet. 2001 May 1;100(3):251. doi: 10.1002/ajmg.1253. Am J Med Genet. 2001. PMID: 11343312 No abstract available.

3

Right pulmonary agenesis with ipsilateral microtia: a new laterality association or part of the oculoauriculovertebral spectrum?

Milani D, Selicorni A. Milani D, et al. Prenat Diagn. 2002 Nov;22(11):1053-4; author reply 1054-5. doi: 10.1002/pd.446. Prenat Diagn. 2002. PMID: 12424776 No abstract available.

4

Gastroesophageal reflux and Cornelia de Lange syndrome: typical and atypical symptoms.

Luzzani S, Macchini F, Valadè A, Milani D, Selicorni A. Luzzani S, et al. Among authors: milani d. Am J Med Genet A. 2003 Jun 15;119A(3):283-7. doi: 10.1002/ajmg.a.20191. Am J Med Genet A. 2003. PMID: 12784293

5

Two new cases of Barraquer-Simons syndrome.

Ferrarini A, Milani D, Bottigelli M, Cagnoli G, Selicorni A. Ferrarini A, et al. Among authors: milani d. Am J Med Genet A. 2004 May 1;126A(4):427-9. doi: 10.1002/ajmg.a.20623. Am J Med Genet A. 2004. PMID: 15098243

6

Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis.

Selicorni A, Ferrarini A, Cagnoli G, Fratoni A, Bottigelli M, Milani D. Selicorni A, et al. Among authors: milani d. Am J Med Genet A. 2005 Jan 15;132A(2):189-90. doi: 10.1002/ajmg.a.30415. Am J Med Genet A. 2005. PMID: 15578583 Review.

7

Anomalies of the kidney and urinary tract are common in de Lange syndrome.

Selicorni A, Sforzini C, Milani D, Cagnoli G, Fossali E, Bianchetti MG. Selicorni A, et al. Among authors: milani d. Am J Med Genet A. 2005 Feb 1;132A(4):395-7. doi: 10.1002/ajmg.a.30445. Am J Med Genet A. 2005. PMID: 15633188

8

Another patient with MECP2 mutation without classic Rett syndrome phenotype.

Milani D, Pantaleoni C, D'Arrigo S, Selicorni A, Riva D. Milani D, et al. Among authors: d arrigo s. Pediatr Neurol. 2005 May;32(5):355-7. doi: 10.1016/j.pediatrneurol.2004.12.012. Pediatr Neurol. 2005. PMID: 15866439

9

Thyroid anomalies in Williams syndrome: investigation of 95 patients.

Selicorni A, Fratoni A, Pavesi MA, Bottigelli M, Arnaboldi E, Milani D. Selicorni A, et al. Among authors: milani d. Am J Med Genet A. 2006 May 15;140(10):1098-101. doi: 10.1002/ajmg.a.31210. Am J Med Genet A. 2006. PMID: 16596673

10

X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L. Musio A, et al. Among authors: milani d. Nat Genet. 2006 May;38(5):528-30. doi: 10.1038/ng1779. Epub 2006 Apr 9. Nat Genet. 2006. PMID: 16604071

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