« Previous
Next »
Paediatric Respiratory Reviews
Volume 13, Issue 1
, Pages 2-9
, March 2012
Pulmonary Complications of Genetic Disorders
References
- . The Respiratory System. Langman's Medical Embryology. 9th Ed.. Baltimore, MD: Lippincott, Williams & Wilkins; 2004;pp. 275–284
- . Agenesis of the lung: report of four patients with unusual anomalies. Chest. 1985;87:522–527
- Familial total anomalous pulmonary venous return: a large Utah-Idaho family. Am J Med Genet. 1994;52:462–466
- Two sibs with anophthalmia and pulmonary hypoplasia (the Matthew-Wood syndrome). Am J Med Genet. 1996;62:227–229
- . Primary (isolated) bilateral pulmonary hypoplasia: a comparative study of radiologic findings and autopsy results. Pediatr Radiol. 1986;16:175–179
- Multiple pterygium syndrome: evolution of the phenotype. J Med Genet. 1987;24:733–749
- Migrating atelectasis in Werdnig-Hoffman disease: pulmonary manifestations in two cases of spinal muscular atrophy type 1. Pediatr Pulmonol. 1999;28(2):149–153
- Association of a new chromosomal deletion [del (1) (q32q42)] with diaphragmatic hernia: assignment of a human ferritin gene. Hum Genet. 1988;78:267–270
- Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet. 2005;42:730–736
- . Body Cavities. Langman's Medical Embryology. 9th Ed.. Baltimore: Lippincott, Williams & Wilkins; 2004;pp. 211–221
- Infants with Bochdalek diaphragmatic hernia: sibling precurrence (sic) and monozygotic twin discordance in a hospital-based malformation surveillance program. Am J Med Genet. 2005;138A:81–88
- Genetics of human heterotaxias. Eur J Hum Genet. 2006;14:17–25
- Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias-severe Rubinstein-Taybi syndrome. Hum Genet. 2006;120:179–186
- . New concepts in the Pathology of Congenital Lung Malformations. Seminars in Pediatr Surgery. 2003;12:17–37
- Cystic lung disease in Down syndrome. Ped Radiol. 1994;24(2):137–138
- Berry aneurysms, cirrhosis, pulmonary emphysema, and bilateral symmetrical cerebral calcifications: a new syndrome. Am J Med Genet. 1987;(Suppl 3):343–356
- Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2. J Med Genet. 2007;44:1–9
- . Alpha-1-antitrypsin deficiency: incidence and detection program. Respir Med. 2000;94(Suppl C):18–21
- Non-CF bronchiectasis: does knowing the aetiology lead to changes in management?. Eur Respir J. 2005;26(1):8–14
- Primary ciliary dyskinesia (PCD) in children –age at diagnosis and symptom history. Acta Paediatric. 2002;91:667–669
- Primary Ciliary Dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med. 2004;169:459–467
- Genetic defects in ciliary ultrastructure and function. Ann Rev Physiol. 2007;69:423–450
- Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation. 2007;115:2814–2821
- . Summary of Pulmonary Hypertension Genetics and Genomics. Advances in Pulmonary Hypertension. 2009;8(2):78–79
- . Cystic Fibrosis. N Engl J Med. 2005;352:1992–2001
- Guidelines for Diagnosis of Cystic Fibrosis in Nerwborns through Older Adults: Cystic Fibrosis Consensus Report. J Pediatr. 2008;153:S4–S14
- Genetic Disorders of Surfactant Dysfunction. Pediatr and Developmental Pathol. 2009;12:253–274
PII: S1526-0542(11)00007-8
doi: 10.1016/j.prrv.2011.01.006
© 2011 Elsevier Ltd. All rights reserved.
« Previous
Next »
Paediatric Respiratory Reviews
Volume 13, Issue 1
, Pages 2-9
, March 2012
