Search Results - "Mencarelli, Amedea" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly

A New De Novo Missense Variant of the TET3 Gene in a Patient with Epilepsy and Macrocephaly

by Foti, Miryam Rosa Stella, Tedesco, Maria Giovanna, Colavito, Davide, Rogaia, Daniela, Mencarelli, Amedea, Schippa, Monica, Gradassi, Cristina, Romani, Rita, Ardisia, Carmela, Prontera, Paolo
Published in International journal of molecular sciences (06.09.2024)

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Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome

Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome

by Rooney, Kathleen, Levy, Michael A., Haghshenas, Sadegheh, Kerkhof, Jennifer, Rogaia, Daniela, Tedesco, Maria Giovanna, Imperatore, Valentina, Mencarelli, Amedea, Squeo, Gabriella Maria, Di Venere, Eleonora, Di Cara, Giuseppe, Verrotti, Alberto, Merla, Giuseppe, Tedder, Matthew L., DuPont, Barbara R., Sadikovic, Bekim, Prontera, Paolo
Published in International journal of molecular sciences (10.08.2021)

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Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma

Expanding the Clinical Spectrum of Sotos Syndrome in a Patient with the New "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]" NSD1 Missense Mutation and Complex Skin Hamartoma

by Mencarelli, Annalisa, Prontera, Paolo, Mencarelli, Amedea, Rogaia, Daniela, Stangoni, Gabriela, Cecconi, Massimiliano, Esposito, Susanna
Published in International journal of molecular sciences (16.10.2018)

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NFIA haploinsufficiency: case series and literature review

NFIA haploinsufficiency: case series and literature review

by Dini, Gianluca, Verrotti, Alberto, Gorello, Paolo, Soliani, Luca, Cordelli, Duccio Maria, Antona, Vincenzo, Mencarelli, Amedea, Colavito, Davide, Prontera, Paolo
Published in Frontiers in pediatrics (17.10.2023)

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Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

Schilbach-Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene

by Prontera, Paolo, Rogaia, Daniela, Sallicandro, Ester, Mencarelli, Amedea, Imperatore, Valentina, Squeo, Gabriella Maria, Merla, Giuseppe, Elisei, Sandro, Moretti-Ferreira, Danilo, Esposito, Susanna, Stangoni, Gabriela
Published in European journal of human genetics : EJHG (01.08.2019)

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Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature

by Prontera, Paolo, Rogaia, Daniela, Mencarelli, Amedea, Ottaviani, Valentina, Sallicandro, Ester, Guercini, Giorgio, Esposito, Susanna, Bersano, Anna, Merla, Giuseppe, Stangoni, Gabriela
Published in International journal of molecular sciences (17.09.2017)

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A novel MED12 mutation: Evidence for a fourth phenotype

A novel MED12 mutation: Evidence for a fourth phenotype

by Prontera, Paolo, Ottaviani, Valentina, Rogaia, Daniela, Isidori, Ilenia, Mencarelli, Amedea, Malerba, Natascia, Cocciadiferro, Dario, Rolph, Pfundt, Stangoni, Gabriela, Vulto-van Silfhout, Anneke, Merla, Giuseppe
Published in American journal of medical genetics. Part A (01.09.2016)

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Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri-Weill Dyschondrosteosis

Report of a Novel SHOX Missense Variant in a Boy With Short Stature and His Mother With Leri-Weill Dyschondrosteosis

by Lucchetti, Laura, Prontera, Paolo, Mencarelli, Amedea, Sallicandro, Ester, Mencarelli, Annalisa, Cofini, Marta, Leonardi, Alberto, Stangoni, Gabriela, Penta, Laura, Esposito, Susanna
Published in Frontiers in endocrinology (Lausanne) (10.04.2018)

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FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother

FMR1, FMR2, and SLITRK2 deletion inside a paracentric inversion involving bands Xq27.3-q28 in a male and his mother

by Cavani, Simona, Prontera, Paolo, Grasso, Marina, Ardisia, Carmela, Malacarne, Michela, Gradassi, Cristina, Cecconi, Massimiliano, Mencarelli, Amedea, Donti, Emilio, Pierluigi, Mauro
Published in American journal of medical genetics. Part A (01.01.2011)

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Cooperation between the RING + B1-B2 and coiled-coil domains of PML is necessary for its effects on cell survival

Cooperation between the RING + B1-B2 and coiled-coil domains of PML is necessary for its effects on cell survival

by FAGIOLI, M, ALCALAY, M, PELICCI, P. G, TOMASSON, L, FERRUCCI, P. F, MENCARELLI, A, RIGANELLI, D, GRIGNANI, Francesco, POZZAN, T, NICOLETTI, I, GRIGNANI, Fausto
Published in Oncogene (04.06.1998)

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Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism

Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism

by Cinque, Luigia, Sparaneo, Angelo, Penta, Laura, Mencarelli, Amedea, Rogaia, Daniela, Esposito, Susanna, Fabrizio, Federico Pio, Baorda, Filomena, Verrotti, Alberto, Falorni, Alberto, Stangoni, Gabriela, Hendy, Geoffrey N, Guarnieri, Vito, Prontera, Paolo
Published in The journal of clinical endocrinology and metabolism (01.11.2017)

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A patient with novel MBOAT7 variant: The cerebellar atrophy is progressive and displays a peculiar neurometabolic profile

by Farnè, Marianna, Tedesco, Giovanna M., Bedetti, Chiara, Mencarelli, Amedea, Rogaia, Daniela, Colavito, Davide, Di Cara, Giuseppe, Stangoni, Gabriela, Troiani, Stefania, Ferlini, Alessandra, Prontera, Paolo
Published in American journal of medical genetics. Part A (01.10.2020)

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Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype

Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype

by Tedesco, Maria Giovanna, Lonardo, Fortunato, Ceccarini, Caterina, Cesarano, Carla, Digilio, Maria Cristina, Magliozzi, Monia, Rogaia, Daniela, Mencarelli, Amedea, Leoni, Chiara, Piscopo, Carmelo, Imperatore, Valentina, Falco, Maria Teresa, Fontana, Paolo, Nardone, Anna Maria, Novelli, Antonio, Troiani, Stefania, Seri, Marco, Prontera, Paolo
Published in American journal of medical genetics. Part A (01.04.2021)

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A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3

by Flex, Elisabetta, Imperatore, Valentina, Carpentieri, Giovanna, Bruselles, Alessandro, Ciolfi, Andrea, Pizzi, Simone, Tedesco, Maria Giovanna, Rogaia, Daniela, Mencarelli, Amedea, Di Cara, Giuseppe, Verrotti, Alberto, Troiani, Stefania, Merla, Giuseppe, Tartaglia, Marco, Prontera, Paolo
Published in Genes (12.09.2021)

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Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome

Cleft palate and ADULT phenotype in a patient with a novel TP63 mutation suggests lumping of EEC/LM/ADULT syndromes into a unique entity: ELA syndrome

by Prontera, Paolo, Garelli, Emanuela, Isidori, Ilenia, Mencarelli, Amedea, Carando, Adriana, Silengo, Margherita Cirillo, Donti, Emilio
Published in American journal of medical genetics. Part A (01.11.2011)

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A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening

A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening

by Prontera, Paolo, Isidori, Ilenia, Mencarini, Valeria, Pennoni, Guido, Mencarelli, Amedea, Stangoni, Gabriela, Di Cara, Giuseppe, Verrotti, Alberto
Published in Public health genomics (01.01.2016)

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Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia

Trisomy 2 mosaicism with caudal dysgenesis, Hirschsprung disease, and micro-anophthalmia

by Prontera, Paolo, Stangoni, Gabriela, Ardisia, Carmela, Rogaia, Daniela, Mencarelli, Amedea, Donti, Emilio
Published in American journal of medical genetics. Part A (01.04.2011)

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Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML)

Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML)

by Prontera, Paolo, Stangoni, Gabriela, Manes, Iris, Mencarelli, Amedea, Donti, Emilio
Published in American journal of medical genetics. Part A (01.03.2009)

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High-efficiency gene transfer and selection of human hematopoietic progenitor cells with a hybrid EBV/retroviral vector expressing the green fluorescence protein

High-efficiency gene transfer and selection of human hematopoietic progenitor cells with a hybrid EBV/retroviral vector expressing the green fluorescence protein

by GRIGNANI, F, KINSELLA, T, MENCARELLI, A, VALTIERI, M, RIGANELLI, D, GRIGNANI, F, LANFRANCONE, L, PESCHLE, C, NOLAN, G. P, PELICCI, P. G
Published in Cancer research (Chicago, Ill.) (1998)

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The acute promyelocytic leukemia-specific PML-RARα fusion protein inhibits differentiation and promotes survival of myeloid precursor cells

The acute promyelocytic leukemia-specific PML-RARα fusion protein inhibits differentiation and promotes survival of myeloid precursor cells

by Grignani, Francesco, Ferrucci, Pier Francesco, Testa, Ugo, Talamo, Giampaolo, Fagioli, Marta, Alcalay, Myriam, Mencarelli, Amedea, Grignani, Fausto, Peschle, Cesare, Nicoletti, Ildo, Pelicci, Pier Giuseppe
Published in Cell (13.08.1993)

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