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Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the geneZFHX1B (SIP1): Confirmation of the Mowat-Wilson syndrome

Autor: Ada Donadio, Christiane Zweier, Giacomo Banchini, Gianna Bertani, Livia Garavelli, G. Neri, Giuseppe Albertini, C. Del Rossi, E. Della Giustina, Anita Rauch, M Zollino, C. Zanacca

Publikováno v: American Journal of Medical Genetics. :385-388

We have identified six children with a distinctive facial phenotype in association with mental retardation (MR), microcephaly, and short stature, four of whom presented with Hirschsprung (HSCR) disease in the neonatal period. HSCR was diagnosed in a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28bf7b97c5786233b2c56c00343068a9
https://doi.org/10.1002/ajmg.a.10855

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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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Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog

Autor: Giovanni Neri, G. Caselli, Livia Garavelli, Giacomo Banchini, Véronique David, Fiorella Gurrieri, Christèle Dubourg, C. Zanacca, Sylvie Odent

Publikováno v: Scopus-Elsevier

Solitary median maxillary central incisor (SMMCI) is a rare dental anomaly. It is usually considered as a minor manifestation of holoprosencephaly (HPE). Some reported families had severe cases of HPE in some members and SMMCI in others. Mutations of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d38ede069bc240448ad191077f34f39d
https://pubmed.ncbi.nlm.nih.gov/15103725

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[Endoscopic study in the diagnosis of nodular lymphoid hyperplasia of the colon in childhood]

Autor: G L, de Angelis, C, Zanacca, G, Gregori, P, Caprio, C, Marenghi, G, Banchini

Publikováno v: La Pediatria medica e chirurgica : Medical and surgical pediatrics. 7(5)

Colonic lymphoid hyperplasia has been diagnosed in 10 children, aged from 11 months to 12 years, with heterogeneous clinical symptoms such as rectal bleeding, abdominal pain, chronic diarrhea and constipation. The Authors underline the value of endos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::86c9c36b07567d919fd621f902af0559
https://pubmed.ncbi.nlm.nih.gov/3837243

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[Clinical approach to constipation: proposal of a diagnostic and therapeutic protocol]

Autor: G L, de Angelis, C, Ghinelli, G, Gregori, F, Bassani, C, Zanacca, C, Del Rossi, G, Banchini

Publikováno v: La Pediatria medica e chirurgica : Medical and surgical pediatrics. 5(5)

A study concerning constipation in children has been carried out in the University Department of Pediatrics and in the Division of Pediatric Surgery of Parma with the aim of reaching an homogeneus approach: it has been applied to 20 children up to no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7a944ddbebf16f0b98d90c7c8eb824c5
https://pubmed.ncbi.nlm.nih.gov/6544418

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