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Bestetti, Ilaria
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1

Long-read sequencing reveals chromothripsis in a molecularl..:

Bestetti, Ilaria ; Crippa, Milena ; Sironi, Alessandra...
Frontiers in Genetics.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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2

When alpha spectrin null alleles meet low expression alpha ..:

Fermo, Elisa ; Zaninoni, Anna ; Vercellati, Cristina...
British Journal of Haematology.  203 (2023)  4 - p. 684-687 , 2023
Link: https://doi.org/10.1111/..
 
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3

Positive predictive values and outcomes for uninformative c..:

Grati, Francesca Romana ; Bestetti, Ilaria ; De Siero, Daria...
Prenatal Diagnosis.  42 (2022)  13 - p. 1575-1586 , 2022
Link: https://doi.org/10.1002/..
 
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4

A unique Smith-Magenis patient with a de novo intragenic de..:

Sironi, Alessandra ; Bestetti, Ilaria ; Masciadri, Maura...
European Journal of Human Genetics.  30 (2022)  11 - p. 1233-1238 , 2022
Link: https://doi.org/10.1038/..
 
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5

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in..:

Bestetti, Ilaria ; Crippa, Milena ; Sironi, Alessandra...
International Journal of Molecular Sciences.  23 (2022)  11 - p. 5912 , 2022
Link: https://doi.org/10.3390/..
 
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6

Cerebral folate transporter deficiency syndrome in three si..:

Brunetti, Sara ; Malerba, Laura ; Giordano, Lucio...
American Journal of Medical Genetics Part A.  185 (2021)  8 - p. 2526-2531 , 2021
Link: https://doi.org/10.1002/..
 
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7

Lynch syndrome and Muir-Torre phenotype associated with a r..:

Cini, Giulia ; Carnevali, Ileana ; Sahnane, Nora...
Cancer Genetics.  254-255 (2021)  - p. 1-10 , 2021
Link: https://doi.org/10.1016/..
 
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8

SETD5 Gene Haploinsufficiency in Three Patients With Suspec..:

Crippa, Milena ; Bestetti, Ilaria ; Maitz, Silvia...
Frontiers in Neurology.  11 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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9

Fundamental role of BMP15 in human ovarian folliculogenesis..:

Rossetti, Raffaella ; Ferrari, Ilaria ; Bestetti, Ilaria...
Human Mutation.  41 (2020)  5 - p. 983-997 , 2020
Link: https://doi.org/10.1002/..
 
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10

9q34.3 microduplications lead to neurodevelopmental disorde..:

Bonati, Maria Teresa ; Castronovo, Chiara ; Sironi, Alessandra...
neurogenetics.  20 (2019)  3 - p. 145-154 , 2019
Link: https://doi.org/10.1007/..
 
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11

Molecular Etiology Disclosed by Array CGH in Patients With ..:

Crippa, Milena ; Bonati, Maria Teresa ; Calzari, Luciano...
Frontiers in Genetics.  10 (2019)  - p. , 2019
Link: https://doi.org/10.3389/..
 
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12

Testing single/combined clinical categories on 5110 Italian..:

Catusi, Ilaria ; Recalcati, Maria Paola ; Bestetti, Ilaria...
Molecular Genetics & Genomic Medicine.  8 (2019)  1 - p. , 2019
Link: https://doi.org/10.1002/..
 
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13

13q mosaic deletion including RB1 associated to mild phenot..:

Bestetti, Ilaria ; Sironi, Alessandra ; Catusi, Ilaria...
Molecular Cytogenetics.  11 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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14

Constitutional de novo deletion of the FBXW7 gene in a pati..:

Roversi, Gaia ; Picinelli, Chiara ; Bestetti, Ilaria...
Scientific Reports.  5 (2015)  1 - p. , 2015
Link: https://doi.org/10.1038/..
 
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15

Familial intragenic duplication of ANKRD11 underlying three..:

Crippa, Milena ; Rusconi, Daniela ; Castronovo, Chiara...
Molecular Cytogenetics.  8 (2015)  1 - p. , 2015
Link: https://doi.org/10.1186/..
 
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