Colombo L - Search Results

1

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.

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

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.

4

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

5

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.

6

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

7

Abdominal cystic lymphangioma in a term newborn: A case report and update of new treatments.

Amodeo I, Cavallaro G, Raffaeli G, Colombo L, Fumagalli M, Cavalli R, Leva E, Mosca F. Amodeo I, et al. Among authors: colombo l. Medicine (Baltimore). 2017 Feb;96(8):e5984. doi: 10.1097/MD.0000000000005984. Medicine (Baltimore). 2017. PMID: 28225486 Free PMC article.

8

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

9

Breastfeeding Determinants in Healthy Term Newborns.

Colombo L, Crippa BL, Consonni D, Bettinelli ME, Agosti V, Mangino G, Bezze EN, Mauri PA, Zanotta L, Roggero P, Plevani L, Bertoli D, Giannì ML, Mosca F. Colombo L, et al. Nutrients. 2018 Jan 5;10(1):48. doi: 10.3390/nu10010048. Nutrients. 2018. PMID: 29304013 Free PMC article.

10

Serum creatinine during physiological perinatal dehydration may estimate individual nephron endowment.

Ardissino G, Tel F, Possenti I, Pavesi M, Perrone M, Forni G, Salice P, Colombo L, Ghirardello S, Castiglione B, Consonni D, Baca L, Vecchi DL, la Marca G, Mosca F. Ardissino G, et al. Among authors: colombo l. Eur J Pediatr. 2018 Sep;177(9):1383-1388. doi: 10.1007/s00431-018-3087-0. Epub 2018 Feb 1. Eur J Pediatr. 2018. PMID: 29387982

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