Delmonaco AG - Search Results

1

Clinical and molecular characterization of 40 patients with Noonan syndrome.

Ferrero GB, Baldassarre G, Delmonaco AG, Biamino E, Banaudi E, Carta C, Rossi C, Silengo MC. Ferrero GB, et al. Among authors: delmonaco ag. Eur J Med Genet. 2008 Nov-Dec;51(6):566-72. doi: 10.1016/j.ejmg.2008.06.011. Epub 2008 Jul 17. Eur J Med Genet. 2008. PMID: 18678287

2

Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.

Ferrero GB, Belligni E, Sorasio L, Delmonaco AG, Oggero R, Faravelli F, Pierluigi M, Silengo M. Ferrero GB, et al. Among authors: delmonaco ag. Am J Med Genet A. 2006 Apr 15;140(8):892-4. doi: 10.1002/ajmg.a.31188. Am J Med Genet A. 2006. PMID: 16532464

3

Low birth-weight, microcephalic malformation syndrome in a 46,XX girl and her 46,XY sister with agonadism: third report of the Kennerknecht syndrome or autosomal recessive Seckel-like syndrome with previously undescribed genital anomalies.

Silengo M, Del Monaco A, Linari A, Lala R. Silengo M, et al. Am J Med Genet. 2001 Jul 1;101(3):275-8. doi: 10.1002/ajmg.1384. Am J Med Genet. 2001. PMID: 11424145

4

Truncus arteriosus and isochromosome 8q.

Silengo M, Rulli I, Delmonaco AG, Ferrero GB, Pucci A, Sanna R. Silengo M, et al. Among authors: delmonaco ag. Am J Med Genet A. 2005 Mar 1;133A(2):223-4. doi: 10.1002/ajmg.a.30489. Am J Med Genet A. 2005. PMID: 15633189 No abstract available.

5

Myhre's syndrome in a girl with normal intelligence.

Rulli I, Ferrero GB, Belligni E, Delmonaco AG, Defilippi C, Silengo M. Rulli I, et al. Among authors: delmonaco ag. Am J Med Genet A. 2005 Apr 1;134A(1):100-2. doi: 10.1002/ajmg.a.30444. Am J Med Genet A. 2005. PMID: 15723310 No abstract available.

6

[Rudimentary acral anomalies in a patient with Acrocal-losal syndrome].

Silengo M, Del Monaco A, Defilippi C. Silengo M, et al. Radiol Med. 2001 Apr;101(4):299-301. Radiol Med. 2001. PMID: 11398065 Italian. No abstract available.

7

A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene.

Delmonaco AG, Gaidolfi E, Scheper GC, Girardo E, Molinatto C, Belligni E, Ferrero GB, Cirillo Silengo M, Van Der Knaap M. Delmonaco AG, et al. Minerva Pediatr. 2011 Apr;63(2):125-9. Minerva Pediatr. 2011. PMID: 21487377

8

HDR syndrome: a novel "de novo" mutation in GATA3 gene.

Ferraris S, Del Monaco AG, Garelli E, Carando A, De Vito B, Pappi P, Lala R, Ponzone A. Ferraris S, et al. Am J Med Genet A. 2009 Feb 15;149A(4):770-5. doi: 10.1002/ajmg.a.32689. Am J Med Genet A. 2009. PMID: 19248180

9

De novo partial duplication of 3q and distal deletion of 20p in a 15-week abort us with omphalocele.

Cinti R, Botta G, Asnaghi V, Del Monaco A, Salvego M, Silengo M. Cinti R, et al. Fetal Diagn Ther. 2000 Jan-Feb;15(1):61-2. doi: 10.1159/000020977. Fetal Diagn Ther. 2000. PMID: 10705217 No abstract available.

10

First diagnosis of multisystem inflammatory syndrome in children (MIS-C): an analysis of PoCUS findings in the ED.

Delmonaco AG, Carpino A, Raffaldi I, Pruccoli G, Garrone E, Del Monte F, Riboldi L, Licciardi F, Urbino AF, Parodi E. Delmonaco AG, et al. Ultrasound J. 2021 Sep 8;13(1):41. doi: 10.1186/s13089-021-00243-5. Ultrasound J. 2021. PMID: 34495434 Free PMC article.

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