Výsledky vyhledávání - "Romana Marini"

Akademický článek

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

Autor: Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia

Publikováno v: BMC Pediatrics, Vol 20, Iss 1, Pp 1-9 (2020)

Abstract Background Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern

Externí odkaz: https://doaj.org/article/c06ccff5eedb42eead89a617da39ae99

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Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

Autor: Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Maria Cristina Digilio, Romana Marini, Marco Tartaglia, Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Marco Cappa, Enrico Bertini, Bruno Dallapiccola

Publikováno v: BMC Pediatrics
BMC Pediatrics, Vol 20, Iss 1, Pp 1-9 (2020)

Background Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern cognitive

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6d92ecaec0b444274d69c36d24e523d
https://pubmed.ncbi.nlm.nih.gov/32164589

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Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience

Autor: Nicole Olivini, Romana Marini, Stefania Pedicelli, Carla Bizzarri, Marco Cappa, Paola Cambiaso, Germana Giannone

Publikováno v: Italian Journal of Pediatrics

Background Salt-wasting represents a relatively common cause of emergency admission in infants and may result in life-threatening complications. Neonatal kidneys show low glomerular filtration rate and immaturity of the distal nephron leading to redu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b168ef074e6950f19faf5ba22138e9ac
https://doi.org/10.1186/s13052-016-0282-3

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Partially Reversible Hypopituitarism in an Adolescent with a Rathke Cleft Cyst

Autor: Carla Bizzarri, Marco Cappa, Graziamaria Ubertini, Romana Marini

Publikováno v: Clinical Pediatric Endocrinology

Rathke cleft cysts are remnants of the Rathke pouch. Most of them are asymptomatic, but sometimes they can grow enough to cause compression of structures within and/or close to the sella, thus eliciting symptoms such as visual disturbance, pituitary

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fd0ed2bf29b157199c455ad5994b7e6
http://europepmc.org/articles/PMC3687652

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Clinical features suggestive of non-classical 21-hydroxylase deficiency in children presenting with precocious pubarche

Autor: Lucilla Ravà, Romana Marini, Danila Benevento, Ottavia Porzio, Francesca Crea, Carla Bizzarri, Marco Cappa

Publikováno v: Journal of Pediatric Endocrinology and Metabolism. 25

Precocious pubarche (PP) is defined as the onset of pubic hair at 8 years of age in girls and at 9 years of age in boys. PP is idiopathic (IPP) in most children, but it is the earliest manifestation of non-classical congenital adrenal hyperplasia owi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28efeb60bcfe39f985c150e34eb467a7
https://doi.org/10.1515/jpem-2012-0241

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Final height after growth hormone therapy in non-growth-hormone-deficient children with short stature

Autor: D. Carta, Sandro Loche, Marco Cappa, Paola Cambiaso, Romana Marini, Patrizia Borrelli, Stefano Setzu

Publikováno v: The Journal of pediatrics. 125(2)

We report the effect of growth hormone (GH) treatment for 4 to 10 years in 15 prepubertal non-GH-deficient short children (10 boys, 5 girls, aged 7.4 to 13.2 years). In 7 patients, GH was administered at a dosage of 0.5 U/kg per week (group 1: 4 boys

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c858ed1acb41f7c9deec49efc1612fc4
https://pubmed.ncbi.nlm.nih.gov/8040761

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The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases

Autor: G. Sabetta, M. L. Vaccario, L. G. Spagnoli, T. de Barsy, Romana Marini, Enrico Bertini, G. P. Palmieri

Three female cases of the "rigid spine" syndrome are reported and associated with different nosological entities. One patient was affected by congenital muscular dystrophy and one by a morphological pattern of fibre type disproportion with type I atr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28a2a95cb073ae208712eda39d1fab77
http://hdl.handle.net/2108/69345

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Periodical

Cutis Verticis Gyrata and Chromosomal Abnormalities

Autor: ROMANA, MARINI, CAPPA, MARCO, NERI, GIOVANNI

Publikováno v: American Journal of Diseases of Children; March 1989, Vol. 143 Issue: 3 p269-270, 2p

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