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Parenti, Ilaria
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1

Assessment of Quality of Life Using the Kidslife Scale in I..:

Trujillano, Laura ; Ayerza-Casas, Ariadna ; Puisac, Beatriz...
Cureus.  , 2024
Link: https://doi.org/10.7759/..
 
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2

Menke-Hennekam syndrome; delineation of domain-specific sub..:

Haghshenas, Sadegheh ; Bout, Hidde J. ; Schijns, Josephine M....
Human Genetics and Genomics Advances.  5 (2024)  3 - p. 100287 , 2024
Link: https://doi.org/10.1016/..
 
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3

PHIP-associated Chung-Jansen syndrome: Report of 23 new ind..:

Kampmeier, Antje ; Leitão, Elsa ; Parenti, Ilaria...
Frontiers in Cell and Developmental Biology.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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4

Systematic analysis and prediction of genes associated with..:

Leitão, Elsa ; Schröder, Christopher ; Parenti, Ilaria...
Nature Communications.  13 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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5

The different clinical facets of SYN1-related neurodevelopm..:

Parenti, Ilaria ; Leitão, Elsa ; Kuechler, Alma...
Frontiers in Cell and Developmental Biology.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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6

Cornelia de Lange syndrome and cancer: An open question:

Pallotta, Maria M. ; Di Nardo, Maddalena ; Hennekam, Raoul C. M....
American Journal of Medical Genetics Part A.  191 (2022)  1 - p. 292-295 , 2022
Link: https://doi.org/10.1002/..
 
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7

Clinical relevance of postzygotic mosaicism in Cornelia de ..:

Latorre-Pellicer, Ana ; Gil-Salvador, Marta ; Parenti, Ilaria...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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8

ANKRD11 variants: KBG syndrome and beyond:

Parenti, Ilaria ; Mallozzi, Mark B. ; Hüning, Irina...
Clinical Genetics.  100 (2021)  2 - p. 187-200 , 2021
Link: https://doi.org/10.1111/..
 
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9

Syndromic neurodevelopmental disorder associated with de no..:

Burns, William ; Bird, Lynne M. ; Heron, Delphine...
American Journal of Medical Genetics Part A.  185 (2021)  10 - p. 2863-2872 , 2021
Link: https://doi.org/10.1002/..
 
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10

Cornelia de Lange Syndrome as Paradigm of Chromatinopathies:

Parenti, Ilaria ; Kaiser, Frank J.
Frontiers in Neuroscience.  15 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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11

Missense and truncating variants in CHD5 in a dominant neur..:

Parenti, Ilaria ; Lehalle, Daphné ; Nava, Caroline...
Human Genetics.  140 (2021)  7 - p. 1109-1120 , 2021
Link: https://doi.org/10.1007/..
 
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12

Evaluating Face2Gene as a Tool to Identify Cornelia de Lang..:

Latorre-Pellicer, Ana ; Ascaso, Ángela ; Trujillano, Laura...
International Journal of Molecular Sciences.  21 (2020)  3 - p. 1042 , 2020
Link: https://doi.org/10.3390/..
 
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13

Heterozygous de novo variants in CSNK1G1 are associated wit..:

Gold, Nina B. ; Li, Dong ; Chassevent, Anna...
Clinical Genetics.  98 (2020)  6 - p. 571-576 , 2020
Link: https://doi.org/10.1111/..
 
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14

MAU2 and NIPBL Variants Impair the Heterodimerization of th..:

Parenti, Ilaria ; Diab, Farah ; Gil, Sara Ruiz...
Cell Reports.  31 (2020)  7 - p. 107647 , 2020
Link: https://doi.org/10.1016/..
 
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15

Neurodevelopmental Disorders: From Genetics to Functional P..:

Parenti, Ilaria ; Rabaneda, Luis G. ; Schoen, Hanna.
Trends in Neurosciences.  43 (2020)  8 - p. 608-621 , 2020
Link: https://doi.org/10.1016/..
 
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