Molecular analysis of holoprosencephaly in South America

Authors: Savastano, Clarice Pagani, El-Jaick, Kênia Balbi, Costa-Lima, Marcelo Aguiar, Abath, Cristina Maria Batista, Bianca, Sebastiano, Cavalcanti, Denise Pontes, Félix, Têmis Maria, Scarano, Gioacchino, Llerena Jr, Juan Clinton, Vargas, Fernando Regla, Moreira, Miguel Ângelo Martins, Seuánez, Hector N., Castilla, Eduardo Enrique, Orioli, Iêda Maria

Source: Genetics and Molecular Biology. January 2014 37(1)

Subject Terms: holoprosencephaly, ECLAMC, SHH, ZIC2, SIX3

File Description: text/html

Access URL: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572014000200011

Copy number variation analysis implicates novel pathways in patients with oculo‐auriculo‐vertebral‐spectrum and congenital heart defects

Authors: Guida, Valentina, Sparascio, Francesca Piceci, Bernardini, Laura, Pancheri, Francesco, Melis, Daniela, Cocciadiferro, Dario, Pagnoni, Mario, Puzzo, Marianna, Goldoni, Marina, Barone, Chiara, Hozhabri, Hossein, Putotto, Carolina, Giuffrida, Maria Grazia, Briuglia, Silvana, Palumbo, Orazio, Bianca, Sebastiano, Stanzial, Franco, Benedicenti, Francesco, Kariminejad, Ariana, Forzano, Francesca, Baghernajad Salehi, Leila, Mattina, Teresa, Brancati, Francesco, Castori, Marco, Carella, Massimo, Fadda, Maria Teresa, Iannetti, Giorgio, Dallapiccola, Bruno, Digilio, Maria Cristina, Marino, Bruno, Tartaglia, Marco, De Luca, Alessandro

Source: Clinical genetics. 100(3):268-279

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100137335148.0x000001&indx=1&recIds=ETOCvdc_100137335148.0x000001

Expanding the clinical and molecular spectrum of lethal congenital contracture syndrome 8 associated with biallelic variants of ADCY6

Authors: Agolini, Emanuele, Cherchi, Claudio, Bellacchio, Emanuele, Martinelli, Diego, Cocciadiferro, Dario, Cutrera, Renato, Chiarini Testa, Maria B., Barone, Chiara, Bianca, Sebastiano, Novelli, Antonio

Source: Clinical genetics. 97(4):649-654

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100106682874.0x000001&indx=1&recIds=ETOCvdc_100106682874.0x000001

In Silico Prediction of BRCA1 and BRCA2 Variants with Conflicting Clinical Interpretation in a Cohort of Breast Cancer Patients.

Authors: Stella, Stefania, Vitale, Silvia Rita, Massimino, Michele, Martorana, Federica, Tornabene, Irene, Tomarchio, Cristina, Drago, Melissa, Pavone, Giuliana, Gorgone, Cristina, Barone, Chiara, Bianca, Sebastiano, Manzella, Livia

Source: Genes; Jul2024, Vol. 15 Issue 7, p943, 15p

Subject Terms: GENETIC testing, BREAST cancer, BRCA genes, OVARIAN cancer, FAMILY history (Medicine)

ALG12-CDG: novel glycophenotype insights endorse the molecular defect

Authors: Sturiale, Luisa, Bianca, Sebastiano, Garozzo, Domenico, Terracciano, Alessandra, Agolini, Emanuele, Messina, Angela, Palmigiano, Angelo, Esposito, Francesca, Barone, Chiara, Novelli, Antonio, Fiumara, Agata, Jaeken, Jaak, Barone, Rita

Source: Glycoconjugate journal. 36(6):461-472

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100127531542.0x000001&indx=1&recIds=ETOCvdc_100127531542.0x000001

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

Authors: Baldelli, Ilaria, Baccarani, Alessio, Barone, Chiara, Bedeschi, Francesca, Bianca, Sebastiano, Calabrese, Olga, Castori, Marco, Catena, Nunzio, Corain, Massimo, Costanzo, Sara, Barbato, Giacomo De Paoli, De Stefano, Santa, Divizia, Maria Teresa, Feletti, Francesco, Formica, Matteo, Lando, Mario, Lerone, Margherita, Lorenzetti, Fulvio, Martinoli, Carlo, Mellini, Lorenzo, Nava, Maurizio Bruno, Porcellini, Giuseppe, Puliti, Aldamaria, Romanini, Maria Victoria, Rondoni, Franco, Santi, Pierluigi, Sartini, Silvana, Senes, Filippo, Spada, Lucia, Tarani, Luigi, Valle, Maura, Venturino, Cristina, Zaottini, Federico, Torre, Michele, Crimi, Marco

Source: Orphanet journal of rare diseases. 15(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100171869028.0x000001&indx=1&recIds=ETOCvdc_100171869028.0x000001

Recent Decrease in the Prevalence of Congenital Heart Defects in Europe

Authors: Khoshnood, Babak, Loane, Maria, Garne, Ester, Addor, Marie-Claude, Arriola, Larraitz, Bakker, Marian, Barisic, Ingeborg, Bianca, Sebastiano, Boyd, Patricia, Calzolari, Elisa, Doray, Berenice, Draper, Elizabeth, Gatt, Miriam, Haeusler, Martin, Melve, Kari Klungsoyr, Latos-Bielenska, Anna, McDonnell, Bob, Mullaney, Carmel, Nelen, Vera, O'Mahony, Mary, Pierini, Anna, Queisser-Luft, Annette, Randrianaivo, Hanitra, Rankin, Judith, Rissmann, Anke, Salvador, Joaquin, Tucker, David, Verellen-Dumoulin, Christine, Wellesley, Diana, Zymak-Zakutnya, Natalya, Dolk, Helen

Source: In The Journal of Pediatrics January 2013 162(1):108-113

Congenital talipes equinovarus: an epidemiological study in Sicily

Authors: Pavone, Vito, Bianca, Sebastiano, Grosso, Giuseppe, Pavone, Piero, Mistretta, Antonio, Longo, Maria Roberta, Marino, Silvia, Sessa, Giuseppe

Source: Acta orthopaedica. 83(3):294-298

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100105951544.0x000001&indx=1&recIds=ETOCvdc_100105951544.0x000001

Surveillance of adverse fetal effects of medications (SAFE-Med): Findings from the International Clearinghouse of Birth Defects Surveillance and Research

Authors: Lisi, Alessandra, Botto, Lorenzo D., Robert-Gnansia, Elisabeth, Castilla, Eduardo E., Bakker, Marian K., Bianca, Sebastiano, Cocchi, Guido, de Vigan, Caterine, da Graça Dutra, Maria, Horacek, Jiri, Merlob, Paul, Pierini, Anna, Scarano, Gioacchino, Sipek, Antonin, Yamanaka, Michiko, Mastroiacovo, Pierpaolo

Source: In Reproductive Toxicology 2010 29(4):433-442

Dextrocardia in patients with Poland syndrome: Phenotypic characterization provides insight into the pathogenesis

Authors: Torre, Michele, Baban, Anwar, Buluggiu, Anna, Costanzo, Sara, Bricco, Lara, Lerone, Margherita, Bianca, Sebastiano, Gatti, Gian Luca, Sénès, Filippo Maria, Valle, Maura, Calevo, Maria Grazia

Source: In The Journal of Thoracic and Cardiovascular Surgery 2010 139(5):1177-1182

15q11.2 microdeletion and hypoplastic left heart syndrome

Authors: Barone, Chiara, Novelli, Antonio, Bianca, Innocenzo, Cataliotti del Grano, Antonella, Campisi, Marcello, Ettore, Carla, Pappalardo, Elisa, Indaco, Lara, Ettore, Giuseppe, Bartoloni, Giovanni, Bianca, Sebastiano

Source: European journal of medical genetics. 58(11):608-610

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100038262717.0x000001&indx=1&recIds=ETOCvdc_100038262717.0x000001

Considerations on the use of carrier screening testing in human reproduction: comparison between recommendations from the Italian Society of Human Genetics and other international societies.

Authors: Capalbo, Antonio, Gabbiato, Ilaria, Caroselli, Silvia, Picchetta, Ludovica, Cavalli, Pietro, Lonardo, Fortunato, Bianca, Sebastiano, Giardina, Emiliano, Zuccarello, Daniela

Source: Journal of Assisted Reproduction & Genetics; Nov2022, Vol. 39 Issue 11, p2581-2593, 13p

Subject Terms: HUMAN genetics, MEDICAL screening, MEDICAL personnel, MEDICAL genetics, MEDICAL genomics, REPRODUCTION, HUMAN reproduction

Geographic Terms: NEW Zealand

Company/Entity: AMERICAN College of Obstetricians & Gynecologists

Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.

Authors: Pavone, Piero, Pappalardo, Xena Giada, Mustafa, Naira, Falsaperla, Raffaele, Marino, Simona Domenica, Corsello, Giovanni, Bianca, Sebastiano, Parano, Enrico, Ruggieri, Martino

Source: Neurological Sciences; Nov2022, Vol. 43 Issue 11, p6529-6538, 10p, 3 Diagrams, 2 Charts, 1 Graph

Subject Terms: ANEUPLOIDY, FETAL growth retardation, EPILEPSY, GROWTH disorders, SPINDLE apparatus, OCULAR hypotony

Pathology of coronary narrowing after arterial switch operation: autopsy findings in two patients who died within 3 months of surgical treatment and review of the literature

Authors: Bartoloni, Giovanni, Bianca, Sebastiano, Patanè, Leonardo, Mignosa, Carmelo

Source: In Cardiovascular Pathology 2006 15(1):49-54

Preventing neural tube defects in Europe: A missed opportunity

Authors: Busby, Araceli ^*, Armstrong, Ben, Dolk, Helen, Armstrong, Nicola, Haeusler, Martin, Berghold, Andrea, Gillerot, Yves, Baguette, Andre, Gjergja, Romana, Barisic, Ingeborg, Christiansen, Marianne, Goujard, Janine, Steinbicker, Volker, Rösch, Christine, McDonnell, Robert, Scarano, Gioacchino, Calzolari, Elisa, Neville, Amanda, Cocchi, Guido, Bianca, Sebastiano, Gatt, Miriam, Walle, Hermien De, Braz, Paula, Latos-Bielenska, Anna, Gener, Blance, Portillo, Isabel, Addor, Marie-Claude, Abramsky, Lenore, Ritvanen, Annukka, Robert-Gnansia, Elisabeth, Daltveit, Anne Kjersti, Aneren, Goran, Olars, Birgitta, Edwards, Grace

Source: In Reproductive Toxicology 2005 20(3):393-402

12q21 Interstitial Deletions: Seven New Syndromic Cases Detected by Array-CGH and Review of the Literature.

Authors: Recalcati, Maria Paola, Catusi, Ilaria, Garzo, Maria, Redaelli, Serena, Massimello, Marta, Maitz, Silvia Beatrice, Gentile, Mattia, Ponzi, Emanuela, Orsini, Paola, Zilio, Anna, Montaldi, Annamaria, Calò, Annapaola, Capra, Anna Paola, Briuglia, Silvana, La Rosa, Maria Angela, Grillo, Lucia, Romano, Corrado, Bianca, Sebastiano, Malacarne, Michela, Busè, Martina

Source: Genes; May2022, Vol. 13 Issue 5, p780-780, 12p

Subject Terms: FAMILY counseling, GENETIC counseling, HEART abnormalities, DEVELOPMENTAL delay, PLANT chromosomes

Mutational Analysis of BRCA1 and BRCA2 Genes in Breast Cancer Patients from Eastern Sicily.

Authors: Stella, Stefania, Vitale, Silvia Rita, Martorana, Federica, Massimino, Michele, Pavone, Giuliana, Lanzafame, Katia, Bianca, Sebastiano, Barone, Chiara, Gorgone, Cristina, Fichera, Marco, Manzella, Livia

Source: Cancer Management & Research; Apr2022, Vol. 14, p1341-1352, 12p

Subject Terms: BRCA genes, SOMATIC mutation, CANCER patients, TUMOR grading

Geographic Terms: SICILY (Italy)

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Authors: Calì, Elisa, Lin, Sheng-Jia, Rocca, Clarissa, Sahin, Yavuz, Al Shamsi, Aisha, El Chehadeh, Salima, Chaabouni, Myriam, Mankad, Kshitij, Galanaki, Evangelia, Efthymiou, Stephanie, Sudhakar, Sniya, Athanasiou-Fragkouli, Alkyoni, Çelik, Tamer, Narlı, Nejat, Bianca, Sebastiano, Murphy, David, De Carvalho Moreira, Francisco Martins, Hannah, Michael G., Bugiardini, Enrico, Kriouile, Yamna, El Khorassani, Mohamed, Aguennouz, Mhammed, Groppa, Stanislav, Karashova, Blagovesta Marinova, Di Rosa, Gabriella, Goraya, Jatinder S., Sultan, Tipu, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Veggiotti, Pierangelo, Verrotti, Alberto, Savasta, Salvatore, Ruiz, Alfons Macaya, Garavaglia, Barbara, Borgione, Eugenia, Papacostas, Savvas, Compagnoni, Chiara, Piccirilli, Alessandra, Vikelis, Michail, Chelban, Viorica, Kaiyrzhanov, Rauan, Cortese, Andrea, Sullivan, Roisin, Papanicolaou, Eleni Zamba, Dardiotis, Efthymios, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Rana, Nuzhat Noureen, Atawneh, Osama, Lim, Shen-Yang, Shaikh, Farooq, Scardamaglia, Annarita, Koutsis, George, Mangano, Salvatore, Scuderi, Carmela, Borgione, Eugenia, Morello, Giovanna, Zollo, Massimo, Heimer, Gali, Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Alkuraya, Fowzan S., Rizig, Mie, Shashkin, Chingiz, Zharkynbekova, Nazira, Koneyev, Kairgali, Manizha, Ganieva, Isrofilov, Maksud, Guliyeva, Ulviyya, Salayev, Kamran, Khachatryan, Samson, Xiromerisiou, Georgia, Spanaki, Cleanthe, Tucci, Arianna, Fiorillo, Chiara, Rissotto, Federico, Munell, Francina, Gagliano, Antonella, Jan, Farida, Chimenz, Roberto, Gitto, Eloisa, Cuppari, Caterina, Romeo, Carmelo, Magrinelli, Francesca, Gupta, Neerja, Kabra, Madhulika, Benrhouma, Hanene, Tazir, Meriem, Zagaroli, Luca, Caloisi, Claudia, Fabiano, Cecilia, Bottone, Gabriella, Farello, Giovanni, Di Fabio, Sandra, Obeid, Makram, Bakhtadze, Sophia, Saadi, Nebal W., Zaki, Maha S., Triki, Chahnez C., Kara, Majdi, Belcastro, Vincenzo, Specchio, Nicola, Karimiani, Ehsan G., Salih, Ahmed M., Ramenghi, Luca A., David, Emanuele, Curró, Riccardo, Iezzi, Maria Laura, Iapadre, Giulia, Nanni, Giuliana, Scorrano, Giovanna, Fiorile, Maria F., Brancati, Francesco, Di Falco, Giovanna, Mandarà, Luana, Barrano, Giuseppe, Elia, Maurizio, Terrone, Gaetano, Operto, Francesca F., Valenzise, Mariella, Della Rocca, Ylenia, Zazzeroni, Francesca, Alesse, Edoardo, Manti, Filippo, Galosi, Serena, Nardecchia, Francesca, Leuzzi, Vincenzo, Pironti, Erica, Amore, Greta, Ceravolo, Giorgia, Zafar, Faisal, Ullah, Ehsan, Afzal, Erum, Javed, Iram, Rahman, Fatima, Ahmed, Muhammad Mehboob, Parisi, Pasquale, Borgia, Paola, Mangano, Giuseppe D., Chiarelli, Francesco, Genomics, Queen Square, Accogli, Andrea, Petree, Cassidy, Huang, Kevin, Monastiri, Kamel, Edizadeh, Masoud, Nardello, Rosaria, Ognibene, Marzia, De Marco, Patrizia, Ruggieri, Martino, Zara, Federico, Striano, Pasquale, Şahin, Yavuz, Al-Gazali, Lihadh, Abi Warde, Marie Therese, Gerard, Benedicte, Zifarelli, Giovanni, Beetz, Christian, Fortuna, Sara, Soler, Miguel, Valente, Enza Maria, Varshney, Gaurav, Maroofian, Reza, Salpietro, Vincenzo, Houlden, Henry

Source: Genetics in Medicine; October 2022, Vol. 24 Issue: 10 p2194-2203, 10p

Elevated incidence of hypospadias in two sicilian towns where exposure to industrial and agricultural pollutants is high

Authors: Bianca, Sebastiano, Li Volti, Giovanni, Caruso-Nicoletti, Manuela, Ettore, Giuseppe, Barone, Patrizia, Lupo, Lorenzo, Li Volti, Salvatore

Source: In Reproductive Toxicology 2003 17(5):539-545

Non-allelic heterogeneity in familial unilateral renal adysplasia

Authors: Li Volti, Salvatore ^*, Faiella, Antonio, Perrotta, Silverio, Li Volti, Giovanni, Lama, Giuliana, Bianca, Sebastiano, Boncinelli, Edoardo

Source: In Annales de genetique 2002 45(3):123-126