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。SNP Array Mapping of Chromosome 20p Deletions: Genotypes, Phenotypes, and Copy Number Variation
Binita M. Kamath et al.
HUMAN MUTATION (2009)
Comparing Two Diagnostic Laboratory Tests for Several Microdeletions Causing Mental Retardation Syndromes: Multiplex Ligation-Dependent Amplification vs Fluorescent In Situ Hybridization
Eun Hae Cho et al.
KOREAN JOURNAL OF LABORATORY MEDICINE (2009)
Clinical and pathological characteristics of Alagille syndrome in Chinese children
Jian-She Wang et al.
World Journal of Pediatrics (2008)
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway
Ryan McDaniell et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Jagged1 (JAG1) mutations in alagille syndrome:: Increasing the mutation detection rate
DM Warthen et al.
HUMAN MUTATION (2006)
Twelve Novel JAG1 Gene Mutations in Polish Alagille Syndrome Patients
Dorota Jurkiewicz et al.
HUMAN MUTATION (2005)
Hepatocellular carcinoma occurring in Alagille syndrome
B Kim et al.
PATHOLOGY RESEARCH AND PRACTICE (2005)
Consequences of JAG1 mutations
BM Kamath et al.
JOURNAL OF MEDICAL GENETICS (2003)
Living-related liver transplantation for alagille syndrome
M Kasahara et al.
TRANSPLANTATION (2003)
DHPLC Mutation Analysis of Jagged1 (JAG1) Reveals Six Novel Mutations in Australian Alagille Syndrome Patients
Mandy L. Heritage et al.
HUMAN MUTATION (2002)
Facial features in Alagille syndrome: Specific or cholestasis facies?
BM Kamath et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Parental mosaicism of JAG1 mutations in families with Alagille syndrome (vol 9, pg 209, 2001)
J Giannakudis et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2001)
The DSL domain in mutant JAG1 ligand is essential for the severity of the liver defect in Alagille syndrome
ZR Yuan et al.
CLINICAL GENETICS (2001)
分享论文
