Colombo L - Search Results

1

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome.

Bedeschi MF, Colombo L, Mari F, Hofmann K, Rauch A, Gentilin B, Renieri A, Clerici D. Bedeschi MF, et al. Among authors: colombo l. Mol Syndromol. 2010;1(5):239-245. doi: 10.1159/000328135. Epub 2011 May 18. Mol Syndromol. 2010. PMID: 22140376 Free PMC article.

2

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.

Bedeschi MF, Bianchi V, Gentilin B, Colombo L, Natacci F, Giglio S, Andreucci E, Trespidi L, Acaia B, Furga AS, Lalatta F. Bedeschi MF, et al. Among authors: colombo l. Orphanet J Rare Dis. 2011 Feb 28;6:7. doi: 10.1186/1750-1172-6-7. Orphanet J Rare Dis. 2011. PMID: 21356074 Free PMC article.

3

Unusual prenatal presentation of Rubinstein-Taybi syndrome: a case report.

Bedeschi MF, Crippa BL, Colombo L, Guez S, Cerruti M, Fogliani R, Gervasini C, Lalatta F. Bedeschi MF, et al. Among authors: colombo l. Am J Med Genet A. 2014 Oct;164A(10):2663-6. doi: 10.1002/ajmg.a.36684. Epub 2014 Jul 29. Am J Med Genet A. 2014. PMID: 25073882

4

Congenital midline cervical cleft: clinical approach to a congenital anterior neck defect.

Crippa BL, Bedeschi MF, Cantarella G, Colombo L, Agosti V, Amodeo I, Fumagalli M, Mazzola I, Mosca F. Crippa BL, et al. Among authors: colombo l. Congenit Anom (Kyoto). 2015 May;55(2):112-5. doi: 10.1111/cga.12086. Congenit Anom (Kyoto). 2015. PMID: 25145974 Free article.

5

Prenatal ultrasound factors and genetic disorders in pregnancies complicated by polyhydramnios.

Boito S, Crovetto F, Ischia B, Crippa BL, Fabietti I, Bedeschi MF, Lalatta F, Colombo L, Mosca F, Fedele L, Persico N. Boito S, et al. Among authors: colombo l. Prenat Diagn. 2016 Aug;36(8):726-30. doi: 10.1002/pd.4851. Epub 2016 Jun 24. Prenat Diagn. 2016. PMID: 27247190

6

Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases.

Bedeschi MF, Calvello M, Paganini L, Pezzani L, Baccarin M, Fontana L, Sirchia SM, Guerneri S, Canazza L, Leva E, Colombo L, Lalatta F, Mosca F, Tabano S, Miozzo M. Bedeschi MF, et al. Among authors: colombo l. BMC Med Genet. 2017 Oct 18;18(1):115. doi: 10.1186/s12881-017-0470-z. BMC Med Genet. 2017. PMID: 29047350 Free PMC article.

7

STAR syndrome plus: The first description of a female patient with the lethal form.

Bedeschi MF, Giangiobbe S, Paganini L, Tabano S, Silipigni R, Colombo L, Crippa BL, Lalatta F, Guerneri S, Miozzo M. Bedeschi MF, et al. Among authors: colombo l. Am J Med Genet A. 2017 Dec;173(12):3226-3230. doi: 10.1002/ajmg.a.38484. Epub 2017 Oct 31. Am J Med Genet A. 2017. PMID: 29088509

8

A case series of CHARGE syndrome: identification of key features for a neonatal diagnosis.

Bedeschi MF, Crippa BL, Colombo L, Buscemi M, Rossi C, Villa R, Gangi S, Picciolini O, Cinnante C, Fergnani VGC, Ajmone PF, Scola E, Triulzi F, Mosca F. Bedeschi MF, et al. Among authors: colombo l. Ital J Pediatr. 2020 Apr 23;46(1):53. doi: 10.1186/s13052-020-0806-8. Ital J Pediatr. 2020. PMID: 32326958 Free PMC article.

9

Structural brain anomalies in Cri-du-Chat syndrome: MRI findings in 14 patients and possible genotype-phenotype correlations.

Villa R, Fergnani VGC, Silipigni R, Guerneri S, Cinnante C, Guala A, Danesino C, Scola E, Conte G, Fumagalli M, Gangi S, Colombo L, Picciolini O, Ajmone PF, Accogli A, Madia F, Tassano E, Scala M, Capra V, Srour M, Spaccini L, Righini A, Greco D, Castiglia L, Romano C, Bedeschi MF. Villa R, et al. Among authors: colombo l. Eur J Paediatr Neurol. 2020 Sep;28:110-119. doi: 10.1016/j.ejpn.2020.07.002. Epub 2020 Jul 28. Eur J Paediatr Neurol. 2020. PMID: 32800423 Free article.

10

Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?

Beltrami B, Cerasani J, Consales A, Villa R, Resta N, Loconte DC, Boito S, Caschera L, Bassi L, Colombo L, Iascone M, Bedeschi MF. Beltrami B, et al. Among authors: colombo l. Clin Case Rep. 2022 Aug 22;10(8):e6256. doi: 10.1002/ccr3.6256. eCollection 2022 Aug. Clin Case Rep. 2022. PMID: 36017115 Free PMC article.

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