E-LIB Suche - Ergebnisse für: Silengo, Margherita

1

Common PHOX2B poly-alanine contractions impair RET gene tra..:

Di Zanni, Eleonora ; Adamo, Annalisa ; Belligni, Elga...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1863 (2017) 7 - p. 1770-1777 , 2017

Link: https://doi.org/10.1016/..

2

Prevention and management of hearing loss in syndromic cran..:

Biamino, Elisa ; Canale, Andrea ; Lacilla, Michelangelo...
International Journal of Pediatric Otorhinolaryngology. 85 (2016) - p. 95-98 , 2016

Link: https://doi.org/10.1016/..

3

Defining the phenotype associated with microduplication rec..:

Novara, Francesca ; Stanzial, Franco ; Rossi, Elena...
American Journal of Medical Genetics Part A. 164 (2014) 8 - p. 2084-2090 , 2014

Link: https://doi.org/10.1002/..

4

Molecular Analysis, Pathogenic Mechanisms, and Readthrough ..:

Micale, Lucia ; Augello, Bartolomeo ; Maffeo, Claudia...
Human Mutation. 35 (2014) 7 - p. 841-850 , 2014

Link: https://doi.org/10.1002/..

5

Severe growth hormone deficiency and pituitary malformation..:

Vetro, Annalisa ; Pagani, Sara ; Silengo, Margherita...
Molecular Cytogenetics. 7 (2014) 1 - p. , 2014

Link: https://doi.org/10.1186/..

6

Phenotypic variability associated with the invariant SHOC2 ..:

Baldassarre, Giuseppina ; Mussa, Alessandro ; Banaudi, Elena...
American Journal of Medical Genetics Part A. 164 (2014) 12 - p. 3120-3125 , 2014

Link: https://doi.org/10.1002/..

7

3-M syndrome associated with growth hormone deficiency: 18 ..:

Meazza, Cristina ; Lausch, Ekkehard ; Pagani, Sara...
Italian Journal of Pediatrics. 39 (2013) 1 - p. , 2013

Link: https://doi.org/10.1186/..

8

20 novel point mutations and one large deletion in EXT1 and..:

Ciavarella, Michele ; Coco, Michelina ; Baorda, Filomena...
Gene. 515 (2013) 2 - p. 339-348 , 2013

Link: https://doi.org/10.1016/..

9

Progressive extreme heterotopic calcification:

Silengo, Margherita ; Defilippi, Claudio ; Belligni, Elga...
American Journal of Medical Genetics Part A. 161 (2013) 7 - p. 1706-1713 , 2013

Link: https://doi.org/10.1002/..

10

Comment on "Prenatal diagnosis and prognosis in Noonan synd..:

Baldassarre, Giuseppina ; Mussa, Alessandro ; Silengo, Margherita.
Prenatal Diagnosis. 33 (2013) 13 - p. 1318-1320 , 2013

Link: https://doi.org/10.1002/..

11

Transcriptional hallmarks of noonan syndrome and noonan‐lik..:

Ferrero, Giovanni Battista ; Picco, Gabriele ; Baldassarre, Giuseppina...
Human Mutation. 33 (2012) 4 - p. 703-709 , 2012

Link: https://doi.org/10.1002/..

12

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppr..:

Caputo, Viviana ; Cianetti, Luciano ; Niceta, Marcello...
The American Journal of Human Genetics. 90 (2012) 1 - p. 161-169 , 2012

Link: https://doi.org/10.1016/..

13

Neonatal hepatoblastoma in a newborn with severe phenotype ..:

Mussa, Alessandro ; Ferrero, Giovanni Battista ; Ceoloni, Barbara...
European Journal of Pediatrics. 170 (2011) 11 - p. 1407-1411 , 2011

Link: https://doi.org/10.1007/..

14

Relative Burden of Large CNVs on a Range of Neurodevelopmen..:

Girirajan, Santhosh ; Brkanac, Zoran ; Coe, Bradley P....
PLoS Genetics. 7 (2011) 11 - p. e1002334 , 2011

Link: https://doi.org/10.1371/..

15

Nephrological findings and genotype–phenotype correlation i..:

Mussa, Alessandro ; Peruzzi, Licia ; Chiesa, Nicoletta...
Pediatric Nephrology. 27 (2011) 3 - p. 397-406 , 2011

Link: https://doi.org/10.1007/..