Search Results - "Cammarata, Francisco"

COVID‐19 and Down syndrome by Callea, Michele, Cammarata‐Scalisi, Francisco, Galeotti, Angela, Villani, Alberto, Valentini, Diletta

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Oral health in pediatric short bowel syndrome by Gigola, Francesca, Grimaldi, Chiara, Cairo, Francesco, Cammarata-Scalisi, Francisco, Cianci, Maria Chiara, Coletta, Riccardo, Morabito, Antonino, Callea, Michele

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Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis by López‐Gallardo, Ester, Cammarata‐Scalisi, Francisco, Emperador, Sonia, Hernández‐Ainsa, Carmen, Habbane, Mouna, Vela‐Sebastián, Ana, Bayona‐Bafaluy, María Pilar, Montoya, Julio, Ruiz‐Pesini, Eduardo

“…The frequency of dermatological manifestations in diseases due to mitochondrial DNA mutations is not well known, although multiple symmetric lipomatosis has…”
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A deep intronic SMARCB1 variant associated with schwannomatosis by Smith, Miriam J., Bowers, Naomi L., Banks, Catherine, Coates‐Brown, Rosanna, Morris, Katrina A., Ewans, Lisa, Wilson, Meredith, Pinner, Jason, Bhaskar, Sanjeev S., Cammarata‐Scalisi, Francisco, Wallace, Andrew J., Evans, Daffyd Gareth R.

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Clinical and molecular characterization of an 18‐month‐old infant with autosomal recessive cutis laxa type 1C due to a novel LTBP4 pathogenic variant, and literature review by Ritelli, Marco, Cammarata‐Scalisi, Francisco, Cinquina, Valeria, Colombi, Marina

“…Background Cutis laxa (CL) is a group of rare connective tissue disorders mainly characterized by wrinkled, redundant, inelastic, and sagging skin. Besides…”
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Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita by Callea, Michele, Martinelli, Diego, Cammarata-Scalisi, Francisco, Grimaldi, Chiara, Jilani, Houweyda, Grimaldi, Piercesare, Willoughby, Colin Eric, Morabito, Antonino

“…Dyskeratosis congenital (DC) is the first genetic syndrome described among telomeropathies. Its classical phenotype is characterized by the mucocutaneous triad…”
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Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta by Caparros‐Martin, Jose A., Aglan, Mona S., Temtamy, Samia, Otaify, Ghada A., Valencia, Maria, Nevado, Julián, Vallespin, Elena, Del Pozo, Angela, Prior de Castro, Carmen, Calatrava‐Ferreras, Lucia, Gutierrez, Pilar, Bueno, Ana M., Sagastizabal, Belen, Guillen‐Navarro, Encarna, Ballesta‐Martinez, Maria, Gonzalez, Vanesa, Basaran, Sarenur Y., Buyukoglan, Ruksan, Sarikepe, Bilge, Espinoza‐Valdez, Cecilia, Cammarata‐Scalisi, Francisco, Martinez‐Glez, Victor, Heath, Karen E., Lapunzina, Pablo, Ruiz‐Perez, Victor L.

“…Background Osteogenesis imperfecta (OI) is a heterogeneous bone disorder characterized by recurrent fractures. Although most cases of OI have heterozygous…”
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Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants by Zhang, Li Xin, Lemire, Gabrielle, Gonzaga-Jauregui, Claudia, Molidperee, Sirinart, Galaz-Montoya, Carolina, Liu, David S., Verloes, Alain, Shillington, Amelle G., Izumi, Kosuke, Ritter, Alyssa L., Keena, Beth, Zackai, Elaine, Li, Dong, Bhoj, Elizabeth, Tarpinian, Jennifer M., Bedoukian, Emma, Kukolich, Mary K., Innes, A. Micheil, Ediae, Grace U., Sawyer, Sarah L., Nair, Karippoth Mohandas, Soumya, Para Chottil, Subbaraman, Kinattinkara R., Probst, Frank J., Bassetti, Jennifer A., Sutton, Reid V., Gibbs, Richard A., Brown, Chester, Boone, Philip M., Holm, Ingrid A., Tartaglia, Marco, Ferrero, Giovanni Battista, Niceta, Marcello, Dentici, Maria Lisa, Radio, Francesca Clementina, Keren, Boris, Wells, Constance F., Coubes, Christine, Laquerrière, Annie, Aziza, Jacqueline, Dubucs, Charlotte, Nampoothiri, Sheela, Mowat, David, Patel, Millan S., Bracho, Ana, Cammarata-Scalisi, Francisco, Gezdirici, Alper, Fernandez-Jaen, Alberto, Hauser, Natalie, Zarate, Yuri A., Bosanko, Katherine A., Dieterich, Klaus, Carey, John C., Chong, Jessica X., Nickerson, Deborah A., Bamshad, Michael J., Lee, Brendan H., Yang, Xiang-Jiao, Lupski, James R., Campeau, Philippe M.

“…Purpose Genitopatellar syndrome and Say–Barber–Biesecker–Young–Simpson syndrome are caused by variants in the KAT6B gene and are part of a broad clinical…”
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Challenges in Communicating a Genetic Diagnosis by Cammarata-Scalisi, Francisco, Willoughby, Colin Eric, Romano, Vito, Callea, Michele

“…Communicating the diagnosis of a genetic entity/rare disease to a patient or their parents is a complex process; it requires the doctor, pediatrician, or…”
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Talla baja asociada a dientes supernumerarios y anomalías esqueléticas como clave diagnóstica de displasia cleidocraneal en pediatría. Caso clínico by Camacho, Nolis, Cammarata, Francisco, Silva, Gloria, Lobo, Carmine, Martorelli, Yoselin

“…La displasia cleidocraneal (OMIM #119600) es una osteocondrodisplasia de herencia autosómica dominante debida a una mutación en heterocigosis en el gen RUNX2…”
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Clinical and Genetic Aspects of Phelan-McDermid Syndrome: An Interdisciplinary Approach to Management by Cammarata-Scalisi, Francisco, Callea, Michele, Martinelli, Diego, Willoughby, Colin Eric, Tadich, Antonio Cárdenas, Araya Castillo, Maykol, Lacruz-Rengel, María Angelina, Medina, Marco, Grimaldi, Piercesare, Bertini, Enrico, Nevado, Julián

“…Phelan-McDermid syndrome (PMS) is a rare, heterogeneous, and complex neurodevelopmental disorder. It is generally caused by a heterozygous microdeletion of…”
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HED (Hypohidrotic Ectodermal Dysplasia): A Review by Callea, Michele, Cammarata Scalisi, Francisco, Yavuz, Izzet, Dogan, Mehmet Sinan, Willoughby, Colin Eric, Bashyam, Murali Dharan

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Membranous aplasia cutis congenita in trisomy 18 by Cammarata-Scalisi, Francisco, Diociaiuti, Andrea, de Guerrero, Blanca, Willoughby, Colin Eric, Callea, Michele

“…Abstract Background Aplasia cutis congenita (ACC) is a rare congenital condition characterized by the absence of skin layers and sometimes other underlying…”
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Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia by Callea, Michele, Bignotti, Stefano, Semeraro, Francesco, Cammarata-Scalisi, Francisco, El-Feghaly, Jinia, Morabito, Antonino, Romano, Vito, Willoughby, Colin E

“…The term ectodermal dysplasias (EDs) describes a heterogeneous group of inherited developmental disorders that affect several tissues of ectodermal origin. The…”
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Next generation sequencing panel target genes: possible diagnostic tool for ectodermal dysplasia related diseases by Callea, Michele, Bellacchio, Emanuele, Cammarata Scalisi, Francisco, El Feghaly, Jinia, El-Ghandour, Rabab K, Avendaño, Andrea, Yavuz, Yasemine, Diociaiuti, Andrea, Digilio, Maria C, DI Stazio, Mariateresa, Novelli, Antonio, Oranges, Teresa, Filippeschi, Cesare, Pisaneschi, Elisa, Jilani, Houweyda, Gigola, Francesca, Willoughby, Colin E, Morabito, Antonino

“…Ectodermal dysplasias (EDs) are a large and complex group of disorders affecting the ectoderm-derived organs; the clinical and genetic heterogeneity of these…”
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Aspectos clínicos, etiológicos y terapéuticos de la disqueratosis congénita by Perona, Rosario, Sastre, Leandro, Callea, Michele, Cammarata-Scalisi, Francisco

“…La disqueratosis congénita corresponde la primera entidad genética descrita entre las telomeropatías, cuya forma clásica se caracteriza por presentar la tríada…”
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TSC2 / PKD1 contiguous gene syndrome by Cammarata-Scalisi, Francisco, Vidales Moreno, Concha, Zara-Chirinos, Carmen, Bracho, Ana, Pérez, Diomar

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Clinical, etiopathogenic, and therapeutic aspects of KID syndrome by Cammarata‐Scalisi, Francisco, Willoughby, Colin Eric, Cárdenas Tadich, Antonio, Labrador, Nancy, Herrera, Adriana, Callea, Michele

“…Keratitis‐ichthyosis‐deafness (KID syndrome) is a syndromes ichthyoses that is clinically and genetically heterogeneous requiring early and long‐term…”
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Oral Manifestations and Complications in Childhood Acute Myeloid Leukemia by Cammarata-Scalisi, Francisco, Girardi, Katia, Strocchio, Luisa, Merli, Pietro, Garret-Bernardin, Annelyse, Galeotti, Angela, Magliarditi, Fabio, Inserra, Alessandro, Callea, Michele

“…Acute myeloid leukemia (AML) is a heterogeneous group of diseases, whose classification is based on lineage-commitment and genetics. Although rare in…”
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COVID‐19 and ectodermal dysplasias. Recommendations are necessary by Callea, Michele, Willoughby, Colin Eric, Perry, Diana, Holzer, Ulrike, Fedele, Giulia, Tadich, Antonio Cárdenas, Cammarata‐Scalisi, Francisco

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