E-LIB Suche - Ergebnisse für: Cesaretti, Claudia

1

Genetic/epigenetic effects in NF1 microdeletion syndrome: b..:

Tritto, Viviana ; Bettinaglio, Paola ; Mangano, Eleonora...
Human Genetics. 143 (2024) 6 - p. 775-795 , 2024

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

2

CATSHL syndrome, a new family and phenotypic expansion:

Cannova, Silvia ; Meossi, Camilla ; Grilli, Federico...
Clinical Genetics. , 2023

Link: https://doi.org/10.1111/..

3

New insights into the molecular basis of spinal neurofibrom..:

Bettinaglio, Paola ; Mangano, Eleonora ; Tritto, Viviana...
European Journal of Human Genetics. 31 (2023) 8 - p. 931-938 , 2023

Link: https://doi.org/10.1038/..

4

A Translational Approach to Spinal Neurofibromatosis: Clini..:

Paterra, Rosina ; Bettinaglio, Paola ; Borghi, Arianna...
Cancers. 15 (2022) 1 - p. 59 , 2022

Link: https://doi.org/10.3390/..

5

Congenital diaphragmatic hernia in Coffin Siris syndrome: F..:

Rimoldi, Martina ; Rinaldi, Berardo ; Villa, Roberta...
American Journal of Medical Genetics Part A. 191 (2022) 2 - p. 605-611 , 2022

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

6

Family history is key to the interpretation of exome sequen..:

Rinaldi, Berardo ; Cesaretti, Claudia ; Boito, Simona...
Prenatal Diagnosis. 42 (2022) 7 - p. 927-933 , 2022

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

7

Prenatal ultrasound findings associated with PIGW variants:..:

Ronzoni, Luisa ; Boito, Simona ; Meossi, Camilla...
Prenatal Diagnosis. 42 (2022) 12 - p. 1493-1502 , 2022

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

8

Neurofibromatosis Type 1 with Neck and Thoraco-Abdominal In..:

Tortora, Silvia ; Esposito, Andrea ; Della Pepa, Gianmarco...
Reports in Medical Imaging. 14 (2021) - p. 41-51 , 2021

Link: https://doi.org/10.2147/..

9

Case Report: The Association Between Chromosomal Anomalies ..:

Esposito, Cecilia Maria ; Enrico, Paolo ; Sciortino, Domenico...
Frontiers in Psychiatry. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

10

BIOM-10. PREVALENCE OF NF1 MISSENSE MUTATIONS AND CANDIDATE..:

Riva, Paola ; Bianchessi, Donata ; Mangano, Eleonora...
Neuro-Oncology. 22 (2020) Supplement_2 - p. ii3-ii3 , 2020

Link: https://doi.org/10.1093/..

11

Simultaneous Detection of NF1, SPRED1, LZTR1, and NF2 Gene ..:

Bianchessi, Donatella ; Ibba, Maria Cristina ; Saletti, Veronica...
Genes. 11 (2020) 6 - p. 671 , 2020

Link: https://doi.org/10.3390/..

12

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: N..:

Melloni, Giulia ; Eoli, Marica ; Cesaretti, Claudia...
Cancers. 11 (2019) 12 - p. 1838 , 2019

Link: https://doi.org/10.3390/..

13

Correction: The absence that makes the difference: choroida..:

Tucci, Arianna ; Saletti, Veronica ; Menni, Francesca...
Journal of Human Genetics. 63 (2018) 3 - p. 391-391 , 2018

Link: https://doi.org/10.1038/..

14

The absence that makes the difference: choroidal abnormalit..:

Tucci, Arianna ; Saletti, Veronica ; Menni, Francesca...
Journal of Human Genetics. 62 (2017) 11 - p. 1001-1004 , 2017

Link: https://doi.org/10.1038/..

15

Prenatal detection of 5q14.3 duplication including MEF2C an..:

Cesaretti, Claudia ; Spaccini, Luigina ; Righini, Andrea...
American Journal of Medical Genetics Part A. 170 (2016) 5 - p. 1352-1357 , 2016

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