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Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review

Autor: L, Garavelli, S, Pedori, R, Dal Zotto, F, Franchi, M, Marinelli, G F, Croci, S, Bellato, A, Ammenti, R, Virdis, G, Banchini, A, Superti-Furga

Publikováno v: Genetic counseling (Geneva, Switzerland). 17(4)

Anophthalmos with limb anomalies (Waardenburg Opththalmo-Acromelic Syndrome) is a very rare autosomal recessive multiple congenital anomaly syndrome, first described by Waardenburg et al. in 1961 (MIM 206920). It is characterized by mono or more ofte

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1c6ac1b87b7ad6e498ff3e58c9f313fa
https://pubmed.ncbi.nlm.nih.gov/17375532

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Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1

Autor: Livia, Garavelli, S, Pedori, C, Zanacca, G, Caselli, A, Loiodice, G, Mantovani, A, Ammenti, Raffaele, Virdis, G, Banchini

Publikováno v: Acta bio-medica : Atenei Parmensis. 76(1)

Albright's hereditary osteodystrophy is characterized by ectopic calcification and ossification, round face, short hands and feet with short terminal phalanges, short metacarpals (especially 4th and 5th) and absence of the 4th knuckle (brachydactyly

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::46d584e8f7191df73e738b01bfd9896d
https://pubmed.ncbi.nlm.nih.gov/16116826

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MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature

Autor: L, Garavelli, K, Leask, C, Zanacca, S, Pedori, G, Albertini, E, Della Giustina, G F, Croci, C, Magnani, G, Banchini, J, Clayton-Smith, M, Bocian, H, Firth, J A, Gold, J, Hurst

Publikováno v: Genetic counseling (Geneva, Switzerland). 16(2)

MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature: We describe the clinical history and magnetic resonance imaging (MRI) findings in 10 children with the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5c5a713257206e715221265a7140f9e3
https://pubmed.ncbi.nlm.nih.gov/16080291

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Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review

Autor: L, Garavelli, P, Cerruti-Mainardi, R, Virdis, S, Pedori, G, Pastore, M, Godi, S, Provera, A, Rauch, C, Zweier, M, Zollino, G, Banchini, N, Longo, D, Mowat, G, Neri, S, Bernasconi

Publikováno v: Hormone research. 63(4)

Hypospadias, when the urethra opens on the ventral side of the penis, is a common malformation seen in about 3 per 1,000 male births. It is a complex disorder associated with genetic and environmental factors and can be part of genetic syndromes. Mow

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3dac30ea6edd6277d78b420b765a2b75
https://pubmed.ncbi.nlm.nih.gov/15908750

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[Use of palivizumab in the prevention of syncytial virus respiratory infection]

Autor: F, Vagnarelli, C, Magnani, A, Vancini, G, Bonacini, A, Iori, S, Mariani, M, Attanasio, G, Banchini

Publikováno v: Acta bio-medica de L'Ateneo parmense : organo della Societa di medicina e scienze naturali di Parma. 71

Monthly intramuscular Palivizumab (Synagis, MedImmune, Inc.) is effective in reducing the incidence of RSV-attributable hospitalization by 55% if compared with placebo and seems to be well tolerated.Our clinical experience in the use of palivizumab i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::35a4a8f7afa0d8653914a8609539a4f5
https://pubmed.ncbi.nlm.nih.gov/11424809

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[Care recommendations for type 1 neurofibromatosis]

Autor: A, Donadio, L, Garavelli, M E, Lorenzetti, A R, Villani, G, Banchini, R, Virdis

Publikováno v: Acta bio-medica de L'Ateneo parmense : organo della Societa di medicina e scienze naturali di Parma. 71(3-4)

Neurofibromatosis type 1 (NF1) is a progressive, multisystem disorder affecting about 1:3000 individuals. About one third of patients show serious complications and about one half are mildly affected. Since the original National Institutes of Health

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c7512e4ee6b7b74afec0edd125ccd0a3
https://pubmed.ncbi.nlm.nih.gov/11424620

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[Genetics of type 1 neurofibromatosis]

Autor: L, Garavelli, A, Donadio, M, Sigorini, L, Grassi, G, Banchini

Publikováno v: Acta bio-medica de L'Ateneo parmense : organo della Societa di medicina e scienze naturali di Parma. 71(3-4)

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterised by cafè au lait spots, multiple neurofibromas and Lisch nodules of the iris, with marked variability of expression. The NF1 gene is located at 17q11.2, spans 350 kb genom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7b43120f0d5d6e9dc2e496686c319331
https://pubmed.ncbi.nlm.nih.gov/11424621

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Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling

Autor: L, Garavelli, A, Donadio, G, Banchini, C, Magnani, E, Calzolari, J P, Fryns

Publikováno v: Genetic counseling (Geneva, Switzerland). 11(2)

The Marden-Walker syndrome is characterized by a mask-like face with blepharophimosis, micrognathia, cleft or high-arched palate, low-set ears, congenital joint contractures, decreased muscular mass, failure to thrive and psychomotor retardation. We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::df500571c91147ca0c8095ee30038b14
https://pubmed.ncbi.nlm.nih.gov/10893662

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