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Dentici, Maria L.
163  results:
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1

POU3F3‐related disorder: Defining the phenotype and expandi..:

Rossi, Alessandra ; Blok, Lot Snijders ; Neuser, Sonja...
Clinical Genetics.  104 (2023)  2 - p. 186-197 , 2023
Link: https://doi.org/10.1111/..
 
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2

Identifying phenotypic expansions for congenital diaphragma..:

Hardcastle, Amy ; Berry, Aliska M. ; Campbell, Ian M....
American Journal of Medical Genetics Part A.  188 (2022)  10 - p. 2958-2968 , 2022
Link: https://doi.org/10.1002/..
 
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3

Proximal variants in CCND2 associated with microcephaly, sh..:

Pirozzi, Filomena ; Lee, Benson ; Horsley, Nicole...
American Journal of Medical Genetics Part A.  185 (2021)  9 - p. 2719-2738 , 2021
Link: https://doi.org/10.1002/..
 
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4

TUBB3E410Ksyndrome: Case report and review of the clinical ..:

Dentici, Maria L. ; Maglione, Vittorio ; Agolini, Emanuele...
American Journal of Medical Genetics Part A.  182 (2020)  8 - p. 1977-1984 , 2020
Link: https://doi.org/10.1002/..
 
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5

Microcephalic osteodysplastic primordial dwarfism typeIIand..:

Rossi‐Espagnet, Maria C. ; Dentici, Maria L. ; Pasquini, Luca...
American Journal of Medical Genetics Part A.  182 (2020)  10 - p. 2372-2376 , 2020
Link: https://doi.org/10.1002/..
 
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6

POGZ‐related epilepsy: Case report and review of the litera..:

Ferretti, Alessandro ; Barresi, Sabina ; Trivisano, Marina...
American Journal of Medical Genetics Part A.  179 (2019)  8 - p. 1631-1636 , 2019
Link: https://doi.org/10.1002/..
 
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7

Expanding the clinical spectrum associated with PACS2 mutat..:

Dentici, Maria L. ; Barresi, Sabina ; Niceta, Marcello...
Clinical Genetics.  95 (2019)  4 - p. 525-531 , 2019
Link: https://doi.org/10.1111/..
 
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8

Unclassifiable pattern of hypopigmentation in a patient wit..:

Alesi, Viola ; Dentici, Maria L. ; Restaldi, Fabrizia...
American Journal of Medical Genetics Part A.  173 (2017)  7 - p. 1943-1946 , 2017
Link: https://doi.org/10.1002/..
 
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9

New patients with Temple syndrome caused by 14q32 deletion:..:

Severi, Giulia ; Bernardini, Laura ; Briuglia, Silvana...
American Journal of Medical Genetics Part A.  170 (2015)  1 - p. 162-169 , 2015
Link: https://doi.org/10.1002/..
 
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10

Association of DiGeorge anomaly and caudal dysplasia sequen..:

Dentici, Maria L. ; Placidi, Silvia ; Francalanci, Paola...
Cardiology in the Young.  23 (2012)  1 - p. 14-17 , 2012
Link: https://doi.org/10.1017/..
 
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11

SOS1 mutations in Noonan syndrome: molecular spectrum, stru..:

Lepri, Francesca ; De Luca, Alessandro ; Stella, Lorenzo...
Human Mutation.  32 (2011)  7 - p. 760-772 , 2011
Link: https://doi.org/10.1002/..
 
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12

A restricted spectrum of NRAS mutations causes Noonan syndr..:

Cirstea, Ion C ; Kutsche, Kerstin ; Dvorsky, Radovan...
Nature Genetics.  42 (2009)  1 - p. 27-29 , 2009
Link: https://doi.org/10.1038/..
 
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13

GermlineBRAFmutations in Noonan, LEOPARD, and cardiofaciocu..:

Sarkozy, Anna ; Carta, Claudio ; Moretti, Sonia...
Human Mutation.  30 (2009)  4 - p. 695-702 , 2009
Link: https://doi.org/10.1002/..
 
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14

Corrigendum: PTCHD1 gene mutation/deletion: the cognitive-b..:

Montanaro, Federica Alice Maria ; Mandarino, Alessandra ; Alesi, Viola...
Frontiers in Psychiatry.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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15

Case report: A new de novo 6q21q22.1 interstitial deletion ..:

Minotti, Chiara ; Graziani, Ludovico ; Sallicandro, Ester...
Frontiers in Genetics.  14 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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