Search Results - "Crisponi, Giangiorgio"

Genital anomalies in newborns by Mecarini, Federico, Fanos, Vassilios, Crisponi, Giangiorgio

“…Examination of genitalia should be an essential part of newborn assessment. Early detection of congenital disorders is essential to begin appropriate medical…”
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Anomalies of the oral cavity in newborns by Mecarini, Federico, Fanos, Vassilios, Crisponi, Giangiorgio

“…Examination of the oral cavity should be an essential part of the newborn assessment. Early detection of congenital disorders is essential to begin appropriate…”
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Congenital ocular anomalies in newborns: a practical atlas by Federico Mecarini, Vassilios Fanos, Giangiorgio Crisponi

“…All newborns should be examined for ocular structural abnormalities, an essential part of the newborn assessment. Early detection of congenital ocular…”
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Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1 by Crisponi, Laura, Crisponi, Giangiorgio, Meloni, Alessandra, Toliat, Mohammad Reza, Nürnberg, Gudrun, Usala, Gianluca, Uda, Manuela, Masala, Marco, Höhne, Wolfgang, Becker, Christian, Marongiu, Mara, Chiappe, Francesca, Kleta, Robert, Rauch, Anita, Wollnik, Bernd, Strasser, Friedrich, Reese, Thomas, Jakobs, Cornelis, Kurlemann, Gerd, Cao, Antonio, Nürnberg, Peter, Rutsch, Frank

“…Crisponi syndrome is a severe autosomal recessive condition that is phenotypically characterized by abnormal, paroxysmal muscular contractions resembling…”
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Isolated ‘sign of the horns’: A simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome by Dessì, Angelica, Fanos, Vassilios, Crisponi, Giangiorgio, Frau, Alessandro, Ottonello, Giovanni

“…The case of a patient presenting with Crisponi syndrome recently hospitalized at our institution is described. During pregnancy a diagnosis of this syndrome…”
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Crisponi syndrome in an Indian patient: A rare differential diagnosis for neonatal tetanus by Thomas, Niranjan, Danda, Sumita, Kumar, Manish, Jana, Atanu Kumar, Crisponi, Giangiorgio, Meloni, Alessandra, Crisponi, Laura

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Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report by Akleyin, Ebru, Yeniçeri Özata, Merve, Crisponi, Giangiorgio

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Dental management in a patient with Crisponi/cold-induced sweating syndrome type 1: a case report by Akleyin, Ebru, Yeniçeri Özata, Merve, Crisponi, Giangiorgio

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New mutations in DYNC2H1 and WDR60 genes revealed by whole-exome sequencing in two unrelated Sardinian families with Jeune asphyxiating thoracic dystrophy by Cossu, Carla, Incani, Federica, Serra, Maria Luisa, Coiana, Alessandra, Crisponi, Giangiorgio, Boccone, Loredana, Rosatelli, Maria Cristina

“…Jeune asphyxiating thoracic dystrophy (JATD; Jeune syndrome, MIM 208500) is a rare autosomal recessive chondrodysplasia, phenotypically overlapping with…”
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Feeding and Nutritional Key Features of Crisponi/Cold-Induced Sweating Syndrome by Onesimo, Roberta, Sforza, Elisabetta, Palermo, Federica, Giorgio, Valentina, Leoni, Chiara, Rigante, Donato, Trevisan, Valentina, Agazzi, Cristiana, Limongelli, Domenico, Proli, Francesco, Kuczynska, Eliza Maria, Crisponi, Laura, Crisponi, Giangiorgio, Zampino, Giuseppe

“…Feeding difficulties are constantly present in patients with Crisponi/cold-induced sweating syndrome type 1 (CS/CISS1). The aim of our study was to describe…”
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Crisponi/cold‐induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts by Buers, Insa, Persico, Ivana, Schöning, Lara, Nitschke, Yvonne, Di Rocco, Maja, Loi, Angela, Sahi, Puneet Kaur, Utine, Gulen Eda, Bayraktar‐Tanyeri, Bilge, Zampino, Giuseppe, Crisponi, Giangiorgio, Rutsch, Frank, Crisponi, Laura

“…Crisponi/cold‐induced sweating syndrome (CS/CISS) is an autosomal recessive disease characterized by hyperthermia, camptodactyly, feeding and respiratory…”
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Warmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1 by Testani, Elisa, Della Marca, Giacomo, La Torraca, Ilaria, Vollono, Catello, Crisponi, Giangiorgio, Zampino, Giuseppe, Valeriani, Massimiliano

“…ABSTRACT Introduction Cold‐induced sweating syndrome type 1 (CISS1), is a rare, severe, autosomal recessive disease. It is characterized by morphological…”
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3MC syndrome: molecular findings in previously reported and milder patients expand the natural history and phenotypic spectrum by Ashton, Chloe Jade, Perveen, Rahat, Beaman, Glenda, Crisponi, Giangiorgio, González-Del Angel, Ariadna, Garza-Mayén, Gilda, Alcántara-Ortigoza, Miguel Angel, O’Sullivan, James, Clayton-Smith, Jill

“…The 3MC syndromes types 1–3 (MIM#257920, 265050 and 248340, respectively) are rare autosomal recessive genetic disorders caused by pathogenic variants in genes…”
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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa by Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

“…Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) is a very rare autosomal-recessive disorder characterized by a complex phenotype with high…”
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Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa by Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, Manila, Marongiu, Mara, Atalay, Hatice Tuba, Inan, Sibel, El Assy, Osama, Smit, Leo M.E., Okur, Ilyas, Boduroglu, Koray, Utine, Gülen Eda, Kılıç, Esra, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

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Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses by Angius, Andrea, Uva, Paolo, Oppo, Manuela, Buers, Insa, Persico, Ivana, Onano, Stefano, Cuccuru, Gianmauro, Van Allen, Margot I., Hulait, Gurdip, Aubertin, Gudrun, Muntoni, Francesco, Fry, Andrew E., Annerén, Göran, Stattin, Eva‐Lena, Palomares‐Bralo, María, Santos‐Simarro, Fernando, Cucca, Francesco, Crisponi, Giangiorgio, Rutsch, Frank, Crisponi, Laura

“…Crisponi/cold‐induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding…”
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Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders by HERHOLZ, Jana, MELONI, Alessandra, CRISPONI, Giangiorgio, CRISPONI, Laura, RUTSCH, Frank, MARONGIU, Mara, CHIAPPE, Francesca, DEIANA, Manila, HERRERO, Carmen Roche, ZAMPINO, Giuseppe, HAMAMY, Hanan, ZALLOUM, Yusra, WAALER, Per Erik

“…Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) are disorders caused by mutations in CRLF1. The two syndromes share clinical…”
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Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome by Piras, Roberta, Chiappe, Francesca, Torraca, Ilaria La, Buers, Insa, Usala, Gianluca, Angius, Andrea, Akin, Mustafa Ali, Basel-Vanagaite, Lina, Benedicenti, Francesco, Chiodin, Elisabetta, El Assy, Osama, Feingold-Zadok, Michal, Guibert, Javier, Kamien, Benjamin, Kasapkara, Çiğdem Seher, Kılıç, Esra, Boduroğlu, Koray, Kurtoglu, Selim, Manzur, Adnan Y, Onal, Eray Esra, Paderi, Enrica, Roche, Carmen Herrero, Tümer, Leyla, Unal, Sezin, Utine, Gülen Eda, Zanda, Giovanni, Zankl, Andreas, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank

“…ABSTRACT Crisponi syndrome (CS) and cold‐induced sweating syndrome type 1 (CISS1) share clinical characteristics, such as dysmorphic features, muscle…”
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p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation by van Bokhoven, Hans, Hamel, Ben C.J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H.G., Vanmolkot, Kaate R.J., van Beusekom, Ellen, van Beersum, Sylvia E.C., Celli, Jacopo, Merkx, Gerard F.M., Tenconi, Romano, Fryns, Jean Pierre, Verloes, Alain, Newbury-Ecob, Ruth A., Raas-Rotschild, Annick, Majewski, Frank, Beemer, Frits A., Janecke, Andreas, Chitayat, David, Crisponi, Giangiorgio, Kayserili, Hülya, Yates, John R.W., Neri, Giovanni, Brunner, Han G.

“…p63 mutations have been associated with EEC syndrome ( ectrodactyly, ectodermal dysplasia, and cleft lip/palate), as well as with nonsyndromic split hand–split…”
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Central apneas in a case of Crisponi syndrome by Della Marca, Giacomo, Barone, Giuseppe, Vollono, Catello, Dittoni, Serena, Vasta, Isabella, Timpani, Giuseppina, Crisponi, Giangiorgio, Zampino, Giuseppe

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