标题
VACTERL/VATER Association
作者
关键词
-
出版物
Orphanet Journal of Rare Diseases
Volume 6, Issue 1, Pages 56
出版商
Springer Nature
发表日期
2011-08-17
DOI
10.1186/1750-1172-6-56
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Analysis of FOXF1 and the FOX gene cluster in patients with VACTERL association
- (2011) Nneamaka B. Agochukwu et al. European Journal of Medical Genetics
- Sonic hedgehog mutation analysis in patients with VACTERL association
- (2010) Mónica Aguinaga et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Analysis of component findings in 79 patients diagnosed with VACTERL association
- (2010) Benjamin D. Solomon et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Molecular and phenotypic aspects ofCHD7mutation in CHARGE syndrome
- (2010) Gabriel E. Zentner et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Analysis of genotype-phenotype correlations in human holoprosencephaly
- (2010) Benjamin D. Solomon et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- 5q11.2 deletion in a patient with tracheal agenesis
- (2010) Elisabeth M de Jong et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Long-term outcomes of adults with features of VACTERL association
- (2010) Manu S. Raam et al. European Journal of Medical Genetics
- Evidence for inheritance in patients with VACTERL association
- (2010) Benjamin D. Solomon et al. HUMAN GENETICS
- Polyalanine expansion in the ZIC3 gene leading to X-linked heterotaxy with VACTERL association: a new polyalanine disorder?
- (2010) M. W. Wessels et al. JOURNAL OF MEDICAL GENETICS
- Early and Long Term Outcome in Children with Esophageal Atresia Treated Over the Last 22 Years
- (2010) M. Lacher et al. KLINISCHE PADIATRIE
- Maternal diabetes and oocyte quality
- (2010) Qiang Wang et al. MITOCHONDRION
- Single Umbilical Artery Risk Factors and Pregnancy Outcomes
- (2010) Lynn Murphy-Kaulbeck et al. OBSTETRICS AND GYNECOLOGY
- Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations
- (2010) Charlotte H. W. Wijers et al. PEDIATRIC SURGERY INTERNATIONAL
- Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies
- (2010) Lars T van der Veken et al. Molecular Cytogenetics
- Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations
- (2009) Paweł Stankiewicz et al. AMERICAN JOURNAL OF HUMAN GENETICS
- How the Fanconi Anemia Pathway Guards the Genome
- (2009) George-Lucian Moldovan et al. Annual Review of Genetics
- Prenatal diagnosis of VACTERL syndrome and partial caudal regression syndrome: A previously unreported association
- (2009) Ali Gedikbasi et al. JOURNAL OF CLINICAL ULTRASOUND
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- Chronic kidney disease in the VACTERL association: clinical course and outcome
- (2009) Sun-Young Ahn et al. PEDIATRIC NEPHROLOGY
- Identification of aHOXD13mutation in a VACTERL patient
- (2008) Maria-Mercè Garcia-Barceló et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- VACTERL association and maternal diabetes: A possible causal relationship?
- (2008) Marco Castori et al. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
- Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL association
- (2008) Elisabeth M. de Jong et al. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
- Mutational analysis ofSHHandGLI3in anorectal malformations
- (2008) Maria-Mercè Garcia-Barceló et al. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY
- VACTERL/caudal regression/Currarino syndrome-like malformations in mice with mutation in the proprotein convertase Pcsk5
- (2008) D. Szumska et al. GENES & DEVELOPMENT
- Spectrum ofHLXB9gene mutations in Currarino syndrome and genotype-phenotype correlation
- (2008) C. Crétolle et al. HUMAN MUTATION
- Genotype-phenotype correlations in MYCN-related Feingold syndrome
- (2008) Carlo L.M. Marcelis et al. HUMAN MUTATION
- Bronchial anomalies in VACTERL association
- (2008) Adaobi Kanu et al. PEDIATRIC PULMONOLOGY
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