I agree that this site is using cookies. You can find further informations here.
X
Baffico, A. Maria
39  results:
Search for persons X
?
1

SHOX deficiency in children with growth impairment: evaluat..:

Vannelli, Silvia ; Baffico, Maria ; Buganza, Raffaele...
Italian Journal of Pediatrics.  46 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
?
2

Duplications upstream and downstream of SHOX identified as ..:

Bunyan, David J. ; Baffico, Maria ; Capone, Lucia...
American Journal of Medical Genetics Part A.  170 (2015)  4 - p. 949-957 , 2015
Link: https://doi.org/10.1002/..
 
?
3

Novel c.358C>T mutation ofSOX9gene in prenatal diagnosis of..:

Barone, Chiara ; Bartoloni, Giovanni ; Baffico, A. Maria...
Congenital Anomalies.  54 (2014)  3 - p. 193-194 , 2014
Link: https://doi.org/10.1111/..
 
?
4

Characterization of a Disease-associated Mutation Affecting..:

Faà, Valeria ; Incani, Federica ; Meloni, Alessandra...
Journal of Biological Chemistry.  284 (2009)  44 - p. 30024-30031 , 2009
Link: https://doi.org/10.1074/..
 
?
5

Germline mosaicism in achondroplasia detected in sperm DNA ..:

Natacci, Federica ; Baffico, Maria ; Cavallari, Ugo...
American Journal of Medical Genetics Part A.  146A (2008)  6 - p. 784-786 , 2008
Link: https://doi.org/10.1002/..
 
?
6

Prenatal ultrasound diagnosis of a case of Pfeiffer syndrom..:

Nazzaro, Alfredo ; Monica, Matteo Della ; Lonardo, Fortunato...
Prenatal Diagnosis.  24 (2004)  11 - p. 918-922 , 2004
Link: https://doi.org/10.1002/..
 
?
7

Fontaine-farriaux craniosynostosis: Second report in the li..:

Priolo, Manuela ; De Toni, Teresina ; Baffico, Maria...
American Journal of Medical Genetics.  100 (2001)  3 - p. 214-218 , 2001
Link: https://doi.org/10.1002/..
 
?
8

Meier‐Gorlin syndrome (ear–patella–short stature syndrome) ..:

Cohen, Amnon ; Mulas, Roberta ; Seri, Marco...
American Journal of Medical Genetics.  107 (2001)  1 - p. 48-51 , 2001
Link: https://doi.org/10.1002/..
 
?
9

Occurrence of thanatophoric dysplasia type I (R248C) and hy..:

Camera, Gianni ; Baldi, Maurizia ; Strisciuglio, Giuseppe...
American Journal of Medical Genetics.  104 (2001)  4 - p. 277-281 , 2001
Link: https://doi.org/10.1002/..
 
?
10

Pfeiffer syndrome type 2 associated with a single amino aci..:

Priolo, Manuela ; Lerone, Margherita ; Baffico, Maria...
Clinical Genetics.  58 (2000)  1 - p. 81-83 , 2000
Link: https://doi.org/10.1034/..
 
?
11

Sonographic and molecular diagnosis of thanatophoric dyspla..:

De Biasio, Pierangela ; Prefumo, Federico ; Baffico, Maria...
Prenatal Diagnosis.  20 (2000)  10 - p. 835-837 , 2000
Link: https://doi.org/10.1002/..
 
?
12

An unusual radiological finding in thanatophoric dysplasia ..:

Camera, Gianni ; Baldi, Maurizia ; Baffico, Maria.
American Journal of Medical Genetics.  71 (1997)  1 - p. 122-123 , 1997
Link: https://doi.org/10.1002/..
 
?
13

The L467F-F508del Complex Allele Hampers Pharmacological Re..:

Sondo, Elvira ; Cresta, Federico ; Pastorino, Cristina...
International Journal of Molecular Sciences.  23 (2022)  6 - p. 3175 , 2022
Link: https://doi.org/10.3390/..
 
?
14

Variants in the 5′UTR reduce SHOX expression and contribute..:

Babu, Deepak ; Vannelli, Silvia ; Fanelli, Antonella...
European Journal of Human Genetics.  29 (2020)  1 - p. 110-121 , 2020
Link: https://doi.org/10.1038/..
 
?
15

Skeletal dysplasia with bowing long bones: Proposed flowcha..:

Tonni, Gabriele ; Palmisano, Marcella ; Lituania, Mario...
Taiwanese Journal of Obstetrics and Gynecology.  55 (2016)  6 - p. 771-776 , 2016
Link: https://doi.org/10.1016/..
 
1-15