Search Results - "Capolino, R"

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N‐terminal TUBB gene by Dentici, M.L., Terracciano, A., Bellacchio, E., Capolino, R., Novelli, A., Digilio, M.C., Dallapiccola, B.

“…Circumferential skin creases Kunze type (CSC‐KT; OMIM 156610, 616734) is a rare disorder characterized by folding of excess skin, which leads to ringed…”
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Congenital heart defects in the recurrent 2q13 deletion syndrome by Digilio, M.C., Dentici, M.L., Loddo, S., Laino, L., Calcagni, G., Genovese, S., Capolino, R., Bottillo, I., Calvieri, G., Dallapiccola, B., Marino, B., Novelli, A., Versacci, P.

“…The recurrent 2q13 deletion syndrome is a rare genetic disorder associated with developmental delay, cardiac and urogenital malformations, and minor facial…”
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RASopathies: Clinical Diagnosis in the First Year of Life by Digilio, M.C., Lepri, F., Baban, A., Dentici, M.L., Versacci, P., Capolino, R., Ferese, R., De Luca, A., Tartaglia, M., Marino, B., Dallapiccola, B.

“…Diagnosis within Noonan syndrome and related disorders (RASopathies) still presents a challenge during the first months of life, since most clinical features…”
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Syndromic non-compaction of the left ventricle: associated chromosomal anomalies by Digilio, MC, Bernardini, L, Gagliardi, MG, Versacci, P, Baban, A, Capolino, R, Dentici, ML, Roberti, MC, Angioni, A, Novelli, A, Marino, B, Dallapiccola, B

“…Non‐compaction of the left ventricle (NCLV) is a cardiomyopathy characterized by prominent left ventricular trabeculae and deep intertrabecular recesses…”
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Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location by Surace, C, Piazzolla, S, Sirleto, P, Digilio, MC, Roberti, MC, Lombardo, A, D'Elia, G, Tomaiuolo, AC, Petrocchi, S, Capolino, R, El Hachem, M, Claps Sepulveda, D, Sgura, A, Angioni, A

“…Ring 17 syndrome is a rare disorder with clinical features influenced by the presence or deletion of the Miller–Dieker critical region (MDCR). Presence of the…”
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Metals for Historic Roofing: An Update by LEVINE, JEFFREY S., CAPOLINO, REMO R., PALMER, JULIE M.

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Masked complex chromosome rearrangement in a child thought to have del(8qter) as the sole cytogenetic abnormality by Surace, C, Digilio, M C, Lombardo, A, Sirleto, P, Tomaiuolo, A C, Roberti, M C, Capolino, R, Angioni, A

“…Cytogenetic analyses of constitutional diseases have disclosed several chromosomal rearrangements. At the molecular level, these rearrangements often result in…”
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A PEDIATRIC CASE OF TEK-RELATED MALFORMATIONS AND MARFANOID HABITUS: AN INCIDENTAL FINDING OR A FEATURE? by Buonuomo, P.S., El Hachem, M., Mastrogiorgio, G., Pisaneschi, E., Diociaiuti, A., Rana, I., Macchiaiolo, M., Capolino, R., Gonfiantini, M.V., Vecchio, D., Novelli, A., Bartuli, A.

“…Vascular malformations encompass a wide range of complex vascular lesions. Due to the extreme variability of clinical presentation, classification and their…”
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Non-immune fetal hydrops associated with nuchal cystic hygroma: further evidence for an autosomal recessive subtype by Bruni, L, Maggi, E, Capolino, R, de Prosperi, V

“…Nuchal cystic hygroma (NCH) and non immune hydrops (NIH) were detected by ultrasound examinations in two sib male fetuses. Fetal and parental karyotypes were…”
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Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries by Piacentini, Gerardo, Digilio, M. Cristina, Capolino, Rossella, Zorzi, Andrea De, Toscano, Alessandra, Sarkozy, Anna, D'Agostino, Rita, Marasini, Maurizio, Russo, M. Giovanna, Dallapiccola, Bruno, Marino, Bruno

“…Familial recurrence of congenitally corrected transposition of the great arteries (CCTGA) is considered uncommon. Most of the previous familial studies…”
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Congenital intrahepatic portosystemic venous shunt: An unusual feature in LEOPARD syndrome and in neurofibromatosis type 1 by Digilio, Maria Cristina, Capolino, Rossella, Marino, Bruno, Sarkozy, Anna, Dallapiccola, Bruno

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Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2 by Digilio, M. Cristina, Marino, Bruno, Capolino, Rossella, Angioni, Adriano, Sarkozy, Anna, Roberti, M. Cristina, Conti, Emanuela, de Zorzi, Andrea, Dallapiccola, Bruno

“…The majority of nonsyndromic congenital heart defects (CHDs) are considered to follow a multifactorial model of inheritance. Multiple family members affected…”
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Down syndrome with unusual chromosome translocation: case report and review by Bruni, L, Capolino, R, Tozzi, M C, Colloridi, F, Smacchia, M P

“…We report a case of Down syndrome with unusual chromosome translocation. The proband is a 1 year old male with 47, XY, der (5) t(5;21) (q11:q21), + der (5)…”
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Hepatic fibrosis in Kabuki syndrome by Nobili, Valerio, Marcellini, Matilde, Devito, Rita, Capolino, Rossella, Viola, Laura, Digilio, M. Cristina

“…Kabuki (Niikawa–Kuroki) syndrome (KS) is characterized by a distinctive face, mental retardation, growth deficiency, skeletal anomalies, dermatoglyphic…”
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Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-Cardio-Facial syndrome) by Digilio, Mc, Marino, B, Capolino, R, Dallapiccola, B

“…Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is characterized by congenital heart defect (CHD), palatal anomalies, facial…”
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Polyvalvular heart disease associated with short stature, facial anomalies, and mental retardation: An additional familial report by Digilio, M. Cristina, Capolino, Rossella, Versacci, Paolo, Marino, Bruno

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Lipid anomaly in a child with partial duplication 3p by Bruni, L, Basili, R, Capolino, R, Mastropasqua, M, Paggi, A

“…The authors report a case regarding a 7-year-old girl affected by short height, bone growth delay, lipidic alterations (hypercholesterolemia,…”
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A case of pediatric systemic lupus erythematosus with early onset and unusual serologic and clinical findings by Tozzi, M C, Bruni, L, Capolino, R, Ferri, M, Ricci, T

“…The authors report on a case of Pediatric Systemic Lupus Erythematosus (SLE) in a female child aged 3 1/2 with a set of peculiar clinical and serologic…”
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Transposition of the great arteries in asplenia and polysplenia phenotypes by Marino, Bruno, Capolino, Rossella, Digilio, M. Cristina, Di Donato, Roberto

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