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Literature DB >> 2357097

Hydrocephalus, bronchiectasis, and ciliary aplasia.

M M De Santi¹, A Magni, E A Valletta, C Gardi, G Lungarella.

Abstract

A girl presented in the neonatal period with hydrocephalus, bronchiectasis, and ciliary aplasia. A common defect both in respiratory tract cilia and in ventricular ependyma cilia may explain the association of the two diseases.

Entities: Disease Species

Mesh：

Year: 1990 PMID： 2357097 PMCID： PMC1792142 DOI： 10.1136/adc.65.5.543

Source DB: PubMed Journal: Arch Dis Child ISSN： 0003-9888 Impact factor: 3.791

4 in total

1. The saccharin method for testing mucociliary function in patients suspected of having primary ciliary dyskinesia.

Authors: M Canciani; E G Barlocco; G Mastella; M M de Santi; C Gardi; G Lungarella
Journal: Pediatr Pulmonol Date: 1988

Review 2. The immotile-cilia syndrome: a microtubule-associated defect.

Authors: B A Afzelius
Journal: CRC Crit Rev Biochem Date: 1985

3. Cilia-lacking respiratory cells in ciliary aplasia.

Authors: M M de Santi; C Gardi; G Barlocco; M Canciani; G Mastella; G Lungarella
Journal: Biol Cell Date: 1988 Impact factor: 4.458

4. Hydrocephalus and primary ciliary dyskinesia.

Authors: M A Greenstone; R W Jones; A Dewar; B G Neville; P J Cole
Journal: Arch Dis Child Date: 1984-05 Impact factor: 3.791

4 in total

25 in total

Review 1. Primary ciliary dyskinesia, an orphan disease.

Authors: Mieke Boon; Mark Jorissen; Marijke Proesmans; Kris De Boeck
Journal: Eur J Pediatr Date: 2012-07-10 Impact factor: 3.183

2. Ultrastructure and movement of the ependymal and tracheal cilia in congenitally hydrocephalic WIC-Hyd rats.

Authors: A Shimizu; M Koto
Journal: Childs Nerv Syst Date: 1992-02 Impact factor: 1.475

Review 3. The development and functions of multiciliated epithelia.

Authors: Nathalie Spassky; Alice Meunier
Journal: Nat Rev Mol Cell Biol Date: 2017-04-12 Impact factor: 94.444

Review 4. Ciliary aplasia associated with hydrocephalus: an extremely rare occurrence.

Authors: Marco Berlucchi; Maria Margherita de Santi; Elisa Bertoni; Elena Spinelli; Silviana Timpano; Rita Padoan
Journal: Eur Arch Otorhinolaryngol Date: 2012-07-12 Impact factor: 2.503

5. Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia.

Authors: Anu Sironen; Noora Kotaja; Howard Mulhern; Todd A Wyatt; Joseph H Sisson; Jacqueline A Pavlik; Mari Miiluniemi; Mark D Fleming; Lance Lee
Journal: Biol Reprod Date: 2011-06-29 Impact factor: 4.285

6. Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.

Authors: Izak J Bisschoff; Christine Zeschnigk; Denise Horn; Brigitte Wellek; Angelika Rieß; Maja Wessels; Patrick Willems; Peter Jensen; Andreas Busche; Jens Bekkebraten; Maya Chopra; Hanne Dahlgaard Hove; Christina Evers; Ketil Heimdal; Ann-Sophie Kaiser; Erdmut Kunstmann; Kristina Lagerstedt Robinson; Maja Linné; Patricia Martin; James McGrath; Winnie Pradel; Katrina E Prescott; Bernd Roesler; Gorazd Rudolf; Ulrike Siebers-Renelt; Nataliya Tyshchenko; Dagmar Wieczorek; Gerhard Wolff; William B Dobyns; Deborah J Morris-Rosendahl
Journal: Hum Mutat Date: 2012-10-17 Impact factor: 4.878