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1 . Academic Journal
Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome
저자
by
Ilaria Bestetti
;
Milena Crippa
;
Alessandra Sironi
;
Matteo Bellini
;
Francesca Tumiatti
, et al.
소스
Frontiers in Genetics, Vol 15 (2024)
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7 . Academic Journal
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome
저자
by
Ilaria Bestetti
;
Milena Crippa
;
Alessandra Sironi
;
Francesca Tumiatti
;
Maura Masciadri
, et al.
소스
International Journal of Molecular Sciences, Vol 23, Iss 11, p 5912 (2022)
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7 . Academic Journal
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome
저자
by
Milena Crippa
;
Ilaria Bestetti
;
Silvia Maitz
;
Karin Weiss
;
Alice Spano
, et al.
소스
Frontiers in Neurology, Vol 11 (2020)
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7 . Academic Journal
Testing single/combined clinical categories on 5110 Italian patients with developmental phenotypes to improve array‐based detection rate
저자
by
Ilaria Catusi
;
Maria Paola Recalcati
;
Ilaria Bestetti
;
Maria Garzo
;
Chiara Valtorta
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 1, Pp n/a-n/a (2020)
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7 . Academic Journal
13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature
저자
by
Ilaria Bestetti
;
Alessandra Sironi
;
Ilaria Catusi
;
Milena Mariani
;
Daniela Giardino
, et al.
소스
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-8 (2018)
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7 . Academic Journal
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes
저자
by
Milena Crippa
;
Maria Teresa Bonati
;
Luciano Calzari
;
Chiara Picinelli
;
Cristina Gervasini
, et al.
소스
Frontiers in Genetics, Vol 10 (2019)
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7 .
A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele
저자
by
Alessandra Sironi
;
Ilaria Bestetti
;
Maura Masciadri
;
Francesca Tumiatti
;
Milena Crippa
, et al.
소스
European Journal of Human Genetics
. 30:1233-1238
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7 .
Lynch syndrome and Muir-Torre phenotype associated with a recurrent variant in the 3’UTR of the MSH6 gene
저자
by
Ilaria Bestetti
;
Ileana Carnevali
;
Anastasia Dell’Elice
;
Nora Sahnane
;
Elisa Pin
, et al.
소스
Cancer Genetics
. :1-10
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7 .
Cerebral folate transporter deficiency syndrome in three siblings: Why genetic testing for developmental and epileptic encephalopathies should be performed early and include the
FOLR1
gene
저자
by
Renzo Guerrini
;
Lucio Giordano
;
Elena Parrini
;
Ilaria Bestetti
;
Laura Malerba
, et al.
소스
American Journal of Medical Genetics Part A
. 185:2526-2531
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7 .
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO Study)
저자
by
Francesca Romana Grati
;
Ilaria Bestetti
;
Daria De Siero
;
Francesca Malvestiti
;
Nicoletta Villa
, et al.
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