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Carpentieri, Giovanna
106  results:
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1

Enhancer hijacking at the ARHGAP36 locus is associated with..:

Melo, Uirá Souto ; Jatzlau, Jerome ; Prada-Medina, Cesar A....
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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2

Germline bi-allelic SH2B3/LNK alteration predisposes to a n..:

Arfeuille, Chloé ; Vial, Yoann ; Cadenet, Margaux...
Haematologica.  , 2023
Link: https://doi.org/10.3324/..
 
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3

Author Correction: Enhancer hijacking at the ARHGAP36 locus..:

Melo, Uirá Souto ; Jatzlau, Jerome ; Prada-Medina, Cesar A....
Nature Communications.  14 (2023)  1 - p. , 2023
Link: https://doi.org/10.1038/..
 
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4

3′UTR Deletion of NONO Leads to Corpus Callosum Anomaly, Le..:

Giuffrida, Maria Grazia ; Goldoni, Marina ; Genovesi, Maria Luce...
Diagnostics.  12 (2022)  10 - p. 2354 , 2022
Link: https://doi.org/10.3390/..
 
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5

Metabolic profiling of Costello syndrome: Insights from a s..:

Leoni, Chiara ; Massese, Miriam ; Gervasoni, Jacopo...
European Journal of Medical Genetics.  65 (2022)  3 - p. 104439 , 2022
Link: https://doi.org/10.1016/..
 
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6

Dominantly acting KIF5B variants with pleiotropic cellular ..:

Flex, Elisabetta ; Albadri, Shahad ; Radio, Francesca Clementina...
Human Molecular Genetics.  32 (2022)  3 - p. 473-488 , 2022
Link: https://doi.org/10.1093/..
 
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7

Compound heterozygosity for PTPN11 variants in a subject wi..:

Lorca, Rebeca ; Pannone, Luca ; Cuesta‐Llavona, Elías...
Clinical Genetics.  99 (2021)  3 - p. 457-461 , 2021
Link: https://doi.org/10.1111/..
 
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8

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Cau..:

Flex, Elisabetta ; Imperatore, Valentina ; Carpentieri, Giovanna...
Genes.  12 (2021)  9 - p. 1406 , 2021
Link: https://doi.org/10.3390/..
 
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9

Targeting Oncogenic Src Homology 2 Domain-Containing Phosph..:

Bobone, Sara ; Pannone, Luca ; Biondi, Barbara...
Journal of Medicinal Chemistry.  64 (2021)  21 - p. 15973-15990 , 2021
Link: https://doi.org/10.1021/..
 
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10

Hyperactive HRAS dysregulates energetic metabolism in fibro..:

Carpentieri, Giovanna ; Leoni, Chiara ; Pietraforte, Donatella...
Human Molecular Genetics.  31 (2021)  4 - p. 561-575 , 2021
Link: https://doi.org/10.1093/..
 
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11

De Novo VPS4A Mutations Cause Multisystem Disease with Abno..:

Rodger, Catherine ; Flex, Elisabetta ; Allison, Rachel J....
The American Journal of Human Genetics.  107 (2020)  6 - p. 1129-1148 , 2020
Link: https://doi.org/10.1016/..
 
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12

The 4Ds of ectopic ACTH syndrome: diagnostic dilemmas of a ..:

Vieira-Corrêa, Marcelo ; Moroto, Débora ; Carpentieri, Giovanna..
Archives of Endocrinology and Metabolism.  , 2019
Link: https://doi.org/10.20945..
 
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13

Aberrant Function of the C-Terminal Tail of HIST1H1E Accele..:

Flex, Elisabetta ; Martinelli, Simone ; Van Dijck, Anke...
The American Journal of Human Genetics.  105 (2019)  3 - p. 493-508 , 2019
Link: https://doi.org/10.1016/..
 
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14

BiallelicSQSTM1mutations in early-onset, variably progressi..:

Muto, Valentina ; Flex, Elisabetta ; Kupchinsky, Zachary...
Neurology.  91 (2018)  4 - p. , 2018
Link: https://doi.org/10.1212/..
 
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15

Hypoglycemia post bariatric surgery: drugs with different m..:

Carpentieri, Giovanna Braganholo ; Gonçalves, Sandra Elisa Adami Batista ; Mourad, Walid Mohamed..
Archives of Endocrinology and Metabolism.  , 2023
Link: https://doi.org/10.20945..
 
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