Advances in dysmorphology: from diagnosis to treatment.
作者信息
Donnai Dian
机构信息
University of Manchester and Central Manchester Foundation Hospitals NHS Trust.
出版信息
Clin Med (Lond). 2009 Apr;9(2):154-5. doi: 10.7861/clinmedicine.9-2-154.
Abstract
摘要
相似文献
1
Advances in dysmorphology: from diagnosis to treatment.
Clin Med (Lond). 2009 Apr;9(2):154-5. doi: 10.7861/clinmedicine.9-2-154.
2
A practical approach to dysmorphology.
Pediatr Ann. 1990 Feb;19(2):95-101. doi: 10.3928/0090-4481-19900201-07.
3
The primary care physician's approach to congenital anomalies.
Prim Care. 2004 Sep;31(3):605-19, x. doi: 10.1016/j.pop.2004.04.015.
4
Current concepts in genetics. Congenital malformations.
N Engl J Med. 1976 Jul 22;295(4):204-7. doi: 10.1056/NEJM197607222950406.
5
Genetic aspects of birth defects: new understandings of old problems.
Arch Dis Child Fetal Neonatal Ed. 2007 Jul;92(4):F308-14. doi: 10.1136/adc.2004.062968.
6
Dysmorphology: an approach to diagnosing children with structural defects of the head and neck.
Head Neck Surg. 1978 Sep-Oct;1(1):35-46. doi: 10.1002/hed.2890010106.
7
Facilitating diagnosis, prognosis, and management: distinguishing isolated and syndromic anomalies.
J Craniofac Surg. 1994 Sep;5(4):208-12. doi: 10.1097/00001665-199409000-00002.
8
Genetics for the clinical obstetrician-gynecologist.
Obstet Gynecol Annu. 1980;9:1-53.
9
Cyclopia, proboscis and alobar holoprosencephaly representative for trisomy 13.
Genet Couns. 2014;25(3):349-51.
10
Structural abnormalities. A systematic approach to diagnosis.
Clin Symp. 1990;42(2):1-32.
引用本文的文献
1
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.
BMC Biotechnol. 2017 Dec 19;17(1):90. doi: 10.1186/s12896-017-0410-1.
2
When to suspect a genetic syndrome.
Am Fam Physician. 2012 Nov 1;86(9):826-33.
本文引用的文献
1
Therapy of Marfan syndrome.
Annu Rev Med. 2008;59:43-59. doi: 10.1146/annurev.med.59.103106.103801.
2
What's new in the neuro-cardio-facial-cutaneous syndromes?
Eur J Pediatr. 2007 Nov;166(11):1091-8. doi: 10.1007/s00431-007-0535-7. Epub 2007 Jul 5.
3
Holoprosencephaly.
Orphanet J Rare Dis. 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8.
4
Predicting disease genes using protein-protein interactions.
J Med Genet. 2006 Aug;43(8):691-8. doi: 10.1136/jmg.2006.041376. Epub 2006 Apr 12.
5
From syndrome families to functional genomics.
Nat Rev Genet. 2004 Jul;5(7):545-51. doi: 10.1038/nrg1383.
6
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
Nat Genet. 1996 Nov;14(3):357-60. doi: 10.1038/ng1196-357.
7
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.
Nat Genet. 1996 Feb;12(2):130-6. doi: 10.1038/ng0296-130.
8
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.
Nature. 1995 Jul 27;376(6538):348-51. doi: 10.1038/376348a0.
9
A computerised data base for the diagnosis of rare dysmorphic syndromes.
J Med Genet. 1984 Apr;21(2):121-3. doi: 10.1136/jmg.21.2.121.
10
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.
Nature. 1992 Feb 13;355(6361):635-6. doi: 10.1038/355635a0.
Zotero 插件