Literature DB >> 25066065

Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.

Adam J Shapiro1, Karen E Weck2, Kay C Chao2, Margaret Rosenfeld3, Anders O H Nygren4, Michael R Knowles5, Margaret W Leigh6, Maimoona A Zariwala2.   

Abstract

Cri du chat syndrome (CdCS) and primary ciliary dyskinesia (PCD) are rare diseases that present with frequent respiratory symptoms. PCD can be caused by hemizygous DNAH5 mutation in combination with a 5p segmental deletion attributable to CdCS on the opposite chromosome. Chronic oto-sino-pulmonary symptoms or organ laterality defects in CdCS should prompt an evaluation for PCD.
Copyright © 2014 Elsevier Inc. All rights reserved.

Entities:  

Mesh：

Substances：

Year:  2014        PMID： 25066065      PMCID： PMC4177261          DOI： 10.1016/j.jpeds.2014.06.048

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  12 in total

1.  Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification.

Authors:  Jan P Schouten; Cathal J McElgunn; Raymond Waaijer; Danny Zwijnenburg; Filip Diepvens; Gerard Pals
Journal:  Nucleic Acids Res       Date:  2002-06-15       Impact factor: 16.971

2.  DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

Authors:  Nada Hornef; Heike Olbrich; Judit Horvath; Maimoona A Zariwala; Manfred Fliegauf; Niki Tomas Loges; Johannes Wildhaber; Peadar G Noone; Marcus Kennedy; Stylianos E Antonarakis; Jean-Louis Blouin; Lucia Bartoloni; Thomas Nüsslein; Peter Ahrens; Matthias Griese; Heiner Kuhl; Ralf Sudbrak; Michael R Knowles; Richard Reinhardt; Heymut Omran
Journal:  Am J Respir Crit Care Med       Date:  2006-04-20       Impact factor: 21.405

Review 3.  Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease.

Authors:  Michael R Knowles; Leigh Anne Daniels; Stephanie D Davis; Maimoona A Zariwala; Margaret W Leigh
Journal:  Am J Respir Crit Care Med       Date:  2013-10-15       Impact factor: 21.405

4.  High-resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization.

Authors:  Xiaoxiao Zhang; Antoine Snijders; Richard Segraves; Xiuqing Zhang; Anita Niebuhr; Donna Albertson; Huanming Yang; Joe Gray; Erik Niebuhr; Lars Bolund; Dan Pinkel
Journal:  Am J Hum Genet       Date:  2005-01-04       Impact factor: 11.025

5.  Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

Authors:  Adam J Shapiro; Stephanie D Davis; Thomas Ferkol; Sharon D Dell; Margaret Rosenfeld; Kenneth N Olivier; Scott D Sagel; Carlos Milla; Maimoona A Zariwala; Whitney Wolf; Johnny L Carson; Milan J Hazucha; Kimberlie Burns; Blair Robinson; Michael R Knowles; Margaret W Leigh
Journal:  Chest       Date:  2014-11       Impact factor: 9.410

Review 6.  The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.

Authors:  E Niebuhr
Journal:  Hum Genet       Date:  1978-11-16       Impact factor: 4.132

7.  Clinical heterogeneity in 80 home-reared children with cri du chat syndrome.

Authors:  L E Wilkins; J A Brown; W E Nance; B Wolf
Journal:  J Pediatr       Date:  1983-04       Impact factor: 4.406

Review 8.  Cri du Chat syndrome.

Authors:  Paola Cerruti Mainardi
Journal:  Orphanet J Rare Dis       Date:  2006-09-05       Impact factor: 4.123

9.  The natural history of Cri du Chat Syndrome. A report from the Italian Register.

Authors:  Paola Cerruti Mainardi; Guido Pastore; Chiara Castronovo; Michela Godi; Andrea Guala; Stefania Tamiazzo; Sandro Provera; Mauro Pierluigi; Franca Dagna Bricarelli
Journal:  Eur J Med Genet       Date:  2006-01-13       Impact factor: 2.708

10.  Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia.

Authors:  Mark A Chilvers; Andrew Rutman; Christopher O'Callaghan
Journal:  J Allergy Clin Immunol       Date:  2003-09       Impact factor: 10.793
View more
  5 in total

1.  Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia.

Authors:  Margaret W Leigh; Amjad Horani; BreAnna Kinghorn; Michael G O'Connor; Maimoona A Zariwala; Michael R Knowles
Journal:  Transl Sci Rare Dis       Date:  2019-07-04

Review 2.  5p deletions: Current knowledge and future directions.

Authors:  Joanne M Nguyen; Krista J Qualmann; Rebecca Okashah; AmySue Reilly; Mikhail F Alexeyev; Dennis J Campbell
Journal:  Am J Med Genet C Semin Med Genet       Date:  2015-08-03       Impact factor: 3.908

3.  Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School.

Authors:  Laura E Gardner; Katie L Horton; Amelia Shoemark; Jane S Lucas; Kim G Nielsen; Helene Kobbernagel; Bruna Rubbo; Robert A Hirst; Panayiotis Kouis; Nicola Ullmann; Ana Reula; Nisreen Rumman; Hannah M Mitchison; Andreia Pinto; Charlotte Richardson; Anne Schmidt; James Thompson; René Gaupmann; Maciej Dabrowski; Pleasantine Mill; Siobhan B Carr; Dominic P Norris; Claudia E Kuehni; Myrofora Goutaki; Claire Hogg
Journal:  BMC Proc       Date:  2020-06-19

4.  Genetics, diagnosis, and future treatment strategies for primary ciliary dyskinesia.

Authors:  M Leigh Anne Daniels; Peadar G Noone
Journal:  Expert Opin Orphan Drugs       Date:  2014-11-29       Impact factor: 0.694

Review 5.  Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review.

Authors:  Adam J Shapiro; Maimoona A Zariwala; Thomas Ferkol; Stephanie D Davis; Scott D Sagel; Sharon D Dell; Margaret Rosenfeld; Kenneth N Olivier; Carlos Milla; Sam J Daniel; Adam J Kimple; Michele Manion; Michael R Knowles; Margaret W Leigh
Journal:  Pediatr Pulmonol       Date:  2015-09-29
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.